Mutagenetix > Incidental Mutation

Incidental Mutation 'Z1188:Kmt2d'

666149

Institutional Source

Beutler Lab

Gene Symbol

Kmt2d

Ensembl Gene

ENSMUSG00000048154

Gene Name

lysine (K)-specific methyltransferase 2D

Synonyms

Mll2, C430014K11Rik, Mll4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

Z1188 ()

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98831669-98871204 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98851744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 2656 (N2656D)

Ref Sequence

ENSEMBL: ENSMUSP00000023741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023741] [ENSMUST00000178486] [ENSMUST00000184363]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000023741
AA Change: N2656D

SMART Domains

Protein: ENSMUSP00000023741
Gene: ENSMUSG00000048154
AA Change: N2656D

Domain	Start	End	E-Value	Type
low complexity region	135	145	N/A	INTRINSIC
PHD	171	218	1.65e-5	SMART
RING	172	217	2.01e0	SMART
PHD	228	274	2.13e-8	SMART
RING	229	273	2.11e-3	SMART
PHD	275	321	1.57e-11	SMART
RING	276	320	2.36e0	SMART
low complexity region	430	489	N/A	INTRINSIC
low complexity region	500	562	N/A	INTRINSIC
low complexity region	564	613	N/A	INTRINSIC
low complexity region	619	717	N/A	INTRINSIC
internal_repeat_3	719	768	2.82e-8	PROSPERO
internal_repeat_3	773	822	2.82e-8	PROSPERO
low complexity region	826	842	N/A	INTRINSIC
low complexity region	844	919	N/A	INTRINSIC
low complexity region	958	981	N/A	INTRINSIC
low complexity region	985	1023	N/A	INTRINSIC
low complexity region	1069	1076	N/A	INTRINSIC
low complexity region	1139	1153	N/A	INTRINSIC
low complexity region	1259	1285	N/A	INTRINSIC
low complexity region	1307	1314	N/A	INTRINSIC
PHD	1335	1384	7.01e-9	SMART
RING	1336	1383	1.46e1	SMART
PHD	1385	1431	8.56e-13	SMART
PHD	1462	1513	1.11e-6	SMART
RING	1463	1512	1.46e1	SMART
low complexity region	1514	1538	N/A	INTRINSIC
low complexity region	1567	1576	N/A	INTRINSIC
low complexity region	1589	1612	N/A	INTRINSIC
low complexity region	1634	1646	N/A	INTRINSIC
low complexity region	1707	1719	N/A	INTRINSIC
low complexity region	1883	1896	N/A	INTRINSIC
low complexity region	1931	1950	N/A	INTRINSIC
HMG	1969	2037	6.35e-6	SMART
low complexity region	2064	2079	N/A	INTRINSIC
low complexity region	2147	2167	N/A	INTRINSIC
low complexity region	2170	2181	N/A	INTRINSIC
low complexity region	2306	2323	N/A	INTRINSIC
low complexity region	2334	2359	N/A	INTRINSIC
low complexity region	2366	2388	N/A	INTRINSIC
low complexity region	2402	2419	N/A	INTRINSIC
low complexity region	2546	2559	N/A	INTRINSIC
low complexity region	2610	2622	N/A	INTRINSIC
coiled coil region	2632	2665	N/A	INTRINSIC
coiled coil region	2768	2813	N/A	INTRINSIC
low complexity region	2855	2868	N/A	INTRINSIC
low complexity region	2887	2899	N/A	INTRINSIC
low complexity region	3151	3165	N/A	INTRINSIC
low complexity region	3189	3204	N/A	INTRINSIC
low complexity region	3241	3263	N/A	INTRINSIC
low complexity region	3390	3400	N/A	INTRINSIC
low complexity region	3629	3659	N/A	INTRINSIC
coiled coil region	3712	3749	N/A	INTRINSIC
low complexity region	3781	3801	N/A	INTRINSIC
coiled coil region	3910	4003	N/A	INTRINSIC
low complexity region	4128	4159	N/A	INTRINSIC
low complexity region	4167	4183	N/A	INTRINSIC
low complexity region	4226	4246	N/A	INTRINSIC
low complexity region	4266	4293	N/A	INTRINSIC
low complexity region	4306	4322	N/A	INTRINSIC
low complexity region	4361	4378	N/A	INTRINSIC
coiled coil region	4591	4613	N/A	INTRINSIC
low complexity region	4661	4684	N/A	INTRINSIC
low complexity region	4745	4755	N/A	INTRINSIC
low complexity region	4877	4896	N/A	INTRINSIC
low complexity region	4957	4983	N/A	INTRINSIC
low complexity region	4989	5029	N/A	INTRINSIC
low complexity region	5100	5107	N/A	INTRINSIC
PHD	5142	5188	4.67e-5	SMART
RING	5143	5187	4.87e0	SMART
FYRN	5242	5285	5.07e-21	SMART
FYRC	5291	5378	2.51e-43	SMART
SET	5448	5570	5.69e-36	SMART
PostSET	5572	5588	3.58e-5	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000178486
AA Change: N2656D

SMART Domains

Protein: ENSMUSP00000135941
Gene: ENSMUSG00000048154
AA Change: N2656D

Domain	Start	End	E-Value	Type
low complexity region	135	145	N/A	INTRINSIC
PHD	171	218	1.65e-5	SMART
RING	172	217	2.01e0	SMART
PHD	228	274	2.13e-8	SMART
RING	229	273	2.11e-3	SMART
PHD	275	321	1.57e-11	SMART
RING	276	320	2.36e0	SMART
low complexity region	430	489	N/A	INTRINSIC
low complexity region	500	562	N/A	INTRINSIC
low complexity region	564	613	N/A	INTRINSIC
low complexity region	619	717	N/A	INTRINSIC
internal_repeat_3	719	768	2.82e-8	PROSPERO
internal_repeat_3	773	822	2.82e-8	PROSPERO
low complexity region	826	842	N/A	INTRINSIC
low complexity region	844	919	N/A	INTRINSIC
low complexity region	958	981	N/A	INTRINSIC
low complexity region	985	1023	N/A	INTRINSIC
low complexity region	1069	1076	N/A	INTRINSIC
low complexity region	1139	1153	N/A	INTRINSIC
low complexity region	1259	1285	N/A	INTRINSIC
low complexity region	1307	1314	N/A	INTRINSIC
PHD	1335	1384	7.01e-9	SMART
RING	1336	1383	1.46e1	SMART
PHD	1385	1431	8.56e-13	SMART
PHD	1462	1513	1.11e-6	SMART
RING	1463	1512	1.46e1	SMART
low complexity region	1514	1538	N/A	INTRINSIC
low complexity region	1567	1576	N/A	INTRINSIC
low complexity region	1589	1612	N/A	INTRINSIC
low complexity region	1634	1646	N/A	INTRINSIC
low complexity region	1707	1719	N/A	INTRINSIC
low complexity region	1883	1896	N/A	INTRINSIC
low complexity region	1931	1950	N/A	INTRINSIC
HMG	1969	2037	6.35e-6	SMART
low complexity region	2064	2079	N/A	INTRINSIC
low complexity region	2147	2167	N/A	INTRINSIC
low complexity region	2170	2181	N/A	INTRINSIC
low complexity region	2306	2323	N/A	INTRINSIC
low complexity region	2334	2359	N/A	INTRINSIC
low complexity region	2366	2388	N/A	INTRINSIC
low complexity region	2402	2419	N/A	INTRINSIC
low complexity region	2546	2559	N/A	INTRINSIC
low complexity region	2610	2622	N/A	INTRINSIC
coiled coil region	2632	2665	N/A	INTRINSIC
coiled coil region	2768	2813	N/A	INTRINSIC
low complexity region	2855	2868	N/A	INTRINSIC
low complexity region	2887	2899	N/A	INTRINSIC
low complexity region	3151	3165	N/A	INTRINSIC
low complexity region	3189	3204	N/A	INTRINSIC
low complexity region	3241	3263	N/A	INTRINSIC
low complexity region	3390	3400	N/A	INTRINSIC
low complexity region	3629	3659	N/A	INTRINSIC
coiled coil region	3712	3749	N/A	INTRINSIC
low complexity region	3781	3801	N/A	INTRINSIC
coiled coil region	3910	4003	N/A	INTRINSIC
low complexity region	4128	4159	N/A	INTRINSIC
low complexity region	4167	4183	N/A	INTRINSIC
low complexity region	4226	4246	N/A	INTRINSIC
low complexity region	4266	4293	N/A	INTRINSIC
low complexity region	4306	4322	N/A	INTRINSIC
low complexity region	4361	4378	N/A	INTRINSIC
coiled coil region	4591	4613	N/A	INTRINSIC
low complexity region	4661	4684	N/A	INTRINSIC
low complexity region	4745	4755	N/A	INTRINSIC
low complexity region	4877	4896	N/A	INTRINSIC
low complexity region	4957	4983	N/A	INTRINSIC
low complexity region	4989	5029	N/A	INTRINSIC
low complexity region	5100	5107	N/A	INTRINSIC
PHD	5142	5188	4.67e-5	SMART
RING	5143	5187	4.87e0	SMART
FYRN	5242	5285	5.07e-21	SMART
FYRC	5291	5378	2.51e-43	SMART
SET	5448	5570	5.69e-36	SMART
PostSET	5572	5588	3.58e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184363

SMART Domains

Protein: ENSMUSP00000139020
Gene: ENSMUSG00000048154

Domain	Start	End	E-Value	Type
low complexity region	73	85	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229651

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 97.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality around E9.5. Mice homozygous for a conditional allele activated in different cell-types exhibit impaired adipogenesis, impaired myogenesis, perturbed germinal B cell development and promoteion of lymphomagenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 415 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	G	11: 65,153,302 (GRCm38)	L22P	unknown	Het
1700086D15Rik	A	G	11: 65,153,288 (GRCm38)	W27R	unknown	Het
1700086D15Rik	T	A	11: 65,152,968 (GRCm38)	Q89L	unknown	Het
1700086D15Rik	A	C	11: 65,152,983 (GRCm38)	V84G	unknown	Het
1700086D15Rik	A	G	11: 65,153,254 (GRCm38)	F38S	unknown	Het
1810065E05Rik	C	T	11: 58,425,799 (GRCm38)	L202F	probably benign	Het
1810065E05Rik	C	T	11: 58,422,234 (GRCm38)	L38F	possibly damaging	Het
1810065E05Rik	C	T	11: 58,422,201 (GRCm38)	L27F	probably benign	Het
2810021J22Rik	C	T	11: 58,880,535 (GRCm38)	A281V	probably benign	Het
4930438A08Rik	A	G	11: 58,294,018 (GRCm38)	T521A	unknown	Het
4933427D14Rik	G	A	11: 72,176,709 (GRCm38)	T585I	possibly damaging	Het
4933427D14Rik	G	T	11: 72,189,616 (GRCm38)	P408H	probably damaging	Het
4933427D14Rik	AAAAGTAA	AAA	11: 72,195,712 (GRCm38)		probably null	Het
4933427D14Rik	A	G	11: 72,195,743 (GRCm38)	C281R	possibly damaging	Het
4933427D14Rik	T	G	11: 72,198,924 (GRCm38)	S45R	probably damaging	Het
4933427D14Rik	C	A	11: 72,198,534 (GRCm38)	A175S	probably benign	Het
4933427D14Rik	T	G	11: 72,195,754 (GRCm38)	K277T	probably damaging	Het
4933427D14Rik	G	A	11: 72,198,482 (GRCm38)	P192L	probably benign	Het
4933427D14Rik	T	TCCCCAGC	11: 72,195,764 (GRCm38)		probably null	Het
Ablim2	G	A	5: 35,837,023 (GRCm38)	D326N	probably damaging	Het
Akap10	T	A	11: 61,915,270 (GRCm38)	S211C	probably benign	Het
Alox8	A	G	11: 69,197,496 (GRCm38)	V76A	probably benign	Het
Alox8	C	T	11: 69,186,047 (GRCm38)	R536Q	probably benign	Het
Aloxe3	C	T	11: 69,148,603 (GRCm38)	A667V	probably benign	Het
Aloxe3	A	G	11: 69,128,675 (GRCm38)	Q138R	probably benign	Het
Aspa	G	T	11: 73,322,187 (GRCm38)	L110I	probably benign	Het
Aurkb	C	T	11: 69,047,866 (GRCm38)	R44W	probably damaging	Het
Aurkb	T	C	11: 69,047,870 (GRCm38)	F45S	probably benign	Het
B9d1	A	T	11: 61,505,203 (GRCm38)		probably benign	Het
Baz2b	T	G	2: 59,977,405 (GRCm38)	N170T	probably benign	Het
Borcs6	G	A	11: 69,060,627 (GRCm38)	R277Q	possibly damaging	Het
Btnl10	T	C	11: 58,919,312 (GRCm38)	V93A	probably benign	Het
Btnl10	AAAGA	AAAGAAGA	11: 58,923,927 (GRCm38)		probably benign	Het
Btnl10	C	T	11: 58,926,824 (GRCm38)	T250I	unknown	Het
Cacna1a	A	C	8: 84,515,054 (GRCm38)	S213R	probably damaging	Het
Ccdc42	C	T	11: 68,587,191 (GRCm38)		probably benign	Het
Ccdc92b	A	G	11: 74,630,054 (GRCm38)	M61V	possibly damaging	Het
Chd3	C	A	11: 69,348,445 (GRCm38)	E1753D	probably benign	Het
Chd3	A	G	11: 69,361,451 (GRCm38)	W42R	probably benign	Het
Clec3a	G	A	8: 114,418,119 (GRCm38)	V12M	possibly damaging	Het
Clec4b1	A	G	6: 123,050,046 (GRCm38)		probably benign	Het
Cluh	CGAGCCTGAGCCTGAGCC	CGAGCCTGAGCCTGAGCCTGAGCC	11: 74,669,517 (GRCm38)		probably benign	Het
Cntnap5a	G	A	1: 116,518,205 (GRCm38)	V1103M	possibly damaging	Het
Cntrob	C	T	11: 69,305,578 (GRCm38)	R677H	probably benign	Het
Cntrob	G	A	11: 69,308,056 (GRCm38)	P622L	probably benign	Het
Cyb5d1	C	A	11: 69,395,272 (GRCm38)	A8S	probably benign	Het
Cyb5d1	A	G	11: 69,395,202 (GRCm38)	L31P	probably benign	Het
Dmxl1	T	G	18: 49,868,003 (GRCm38)	V830G	probably damaging	Het
Dnah9	G	A	11: 66,147,381 (GRCm38)	H110Y	probably benign	Het
Dnah9	A	C	11: 66,085,174 (GRCm38)	S1350A	probably benign	Het
Elac2	T	C	11: 64,979,189 (GRCm38)	S27P	probably benign	Het
Ep400	T	G	5: 110,755,683 (GRCm38)	K350T	unknown	Het
Epha6	C	T	16: 59,654,090 (GRCm38)	R1108Q	probably damaging	Het
Epn2	C	A	11: 61,579,634 (GRCm38)		probably benign	Het
Fam114a2	C	T	11: 57,514,234 (GRCm38)	G14E	probably benign	Het
Fam114a2	T	C	11: 57,499,797 (GRCm38)	N304D	probably benign	Het
Fam114a2	C	T	11: 57,499,755 (GRCm38)	V318I	probably benign	Het
Fam114a2	G	A	11: 57,490,114 (GRCm38)	A438V	probably benign	Het
Fam114a2	A	G	11: 57,484,032 (GRCm38)	S494P	probably benign	Het
Fam83g	G	A	11: 61,703,194 (GRCm38)	R518Q	probably benign	Het
Fat2	T	G	11: 55,309,799 (GRCm38)	K816N	probably benign	Het
Fat2	TGTACCTCACCCCAGTACCT	TGTACCT	11: 55,308,970 (GRCm38)		probably null	Het
Fbxw10	G	A	11: 62,876,845 (GRCm38)	V836I	probably benign	Het
Fbxw10	G	C	11: 62,847,292 (GRCm38)	R4T	probably benign	Het
Fmnl2	A	G	2: 53,114,871 (GRCm38)	E659G	unknown	Het
Foxo6	C	T	4: 120,287,135 (GRCm38)	G40R	possibly damaging	Het
Fthl17b	C	A	X: 8,962,574 (GRCm38)	A86S	probably benign	Het
Galnt10	G	A	11: 57,765,688 (GRCm38)	V233I	probably benign	Het
Gemin5	C	G	11: 58,146,519 (GRCm38)	E623D	probably benign	Het
Gemin5	C	G	11: 58,139,575 (GRCm38)	C808S	probably benign	Het
Gemin5	C	G	11: 58,139,510 (GRCm38)	A830P	probably benign	Het
Gemin5	T	C	11: 58,130,071 (GRCm38)	M1097V	probably benign	Het
Gemin5	T	C	11: 58,125,218 (GRCm38)	S1321G	probably benign	Het
Gemin5	C	G	11: 58,122,289 (GRCm38)	S1446T	probably benign	Het
Ggnbp2	C	T	11: 84,836,652 (GRCm38)	R481Q	probably benign	Het
Gjc2	ACCCTCCCT	ACCCTCCCTCCCT	11: 59,182,735 (GRCm38)		probably benign	Het
Gjc2	A	G	11: 59,176,492 (GRCm38)	V388A	unknown	Het
Gjc2	T	C	11: 59,176,433 (GRCm38)	S408G	unknown	Het
Glod4	A	G	11: 76,243,010 (GRCm38)	V6A	probably benign	Het
Glod4	C	A	11: 76,242,993 (GRCm38)		probably null	Het
Glod4	T	C	11: 76,243,604 (GRCm38)	K14R	probably benign	Het
Glod4	T	C	11: 76,243,605 (GRCm38)	K14E	probably benign	Het
Glp2r	C	A	11: 67,770,836 (GRCm38)	A13S	probably benign	Het
Glp2r	A	G	11: 67,744,947 (GRCm38)	V189A	probably benign	Het
Glp2r	T	C	11: 67,742,303 (GRCm38)	T235A	probably benign	Het
Glp2r	T	C	11: 67,741,059 (GRCm38)	I281V	probably benign	Het
Glp2r	A	G	11: 67,741,052 (GRCm38)	V283A	probably benign	Het
Glp2r	C	T	11: 67,740,167 (GRCm38)	V295I	probably benign	Het
Glp2r	C	G	11: 67,709,646 (GRCm38)	G459A	probably benign	Het
Glp2r	C	A	11: 67,709,644 (GRCm38)	V460F	probably benign	Het
Glp2r	C	A	11: 67,709,568 (GRCm38)	R485L	probably damaging	Het
Gm12253	G	A	11: 58,441,009 (GRCm38)	A215T	possibly damaging	Het
Gm12253	G	A	11: 58,435,483 (GRCm38)	S108N	probably benign	Het
Gm12253	A	C	11: 58,435,411 (GRCm38)	E84A	probably benign	Het
Gm12253	A	C	11: 58,434,860 (GRCm38)	E52D	probably benign	Het
Gm12253	A	G	11: 58,434,832 (GRCm38)	E43G	probably benign	Het
Gm12253	G	C	11: 58,434,541 (GRCm38)	S13T	possibly damaging	Het
Gm12258	G	C	11: 58,859,864 (GRCm38)	G622R	unknown	Het
Gm12258	T	A	11: 58,859,188 (GRCm38)		probably benign	Het
Gm12258	A	G	11: 58,859,187 (GRCm38)		probably benign	Het
Gm12258	A	T	11: 58,859,007 (GRCm38)	E336V	unknown	Het
Gm12258	G	A	11: 58,858,950 (GRCm38)	G317E	unknown	Het
Gm12258	G	A	11: 58,858,938 (GRCm38)	R313H	unknown	Het
Gm12258	C	T	11: 58,858,436 (GRCm38)	R146W		Het
Gm12258	T	G	11: 58,858,300 (GRCm38)	S100R		Het
Gm13272	G	C	4: 88,780,333 (GRCm38)	V162L	probably damaging	Het
Gps2	C	T	11: 69,916,304 (GRCm38)	A60V	probably benign	Het
Gucy2e	C	G	11: 69,236,603 (GRCm38)	G15R	unknown	Het
Gucy2e	C	A	11: 69,223,605 (GRCm38)	A1033S	probably benign	Het
Guk1	G	A	11: 59,191,921 (GRCm38)		probably benign	Het
Haspin	T	C	11: 73,137,348 (GRCm38)	Q305R	probably benign	Het
Haspin	A	G	11: 73,137,951 (GRCm38)	L104P	probably benign	Het
Hes7	T	C	11: 69,122,956 (GRCm38)	S214P	probably benign	Het
Hic1	G	A	11: 75,167,526 (GRCm38)	T179M	probably damaging	Het
Hydin	T	G	8: 110,415,787 (GRCm38)	I766S	probably benign	Het
Iba57	CAGA	CAGAGA	11: 59,161,503 (GRCm38)		probably null	Het
Iba57	T	C	11: 59,161,555 (GRCm38)	T87A	unknown	Het
Iba57	T	C	11: 59,161,558 (GRCm38)	T86A	unknown	Het
Iba57	C	G	11: 59,163,039 (GRCm38)	G36R	unknown	Het
Iftap	T	C	2: 101,610,605 (GRCm38)	K18E	probably benign	Het
Ighv5-8	TATATATATATATATATA	TATATATATATATATATATA	12: 113,654,949 (GRCm38)		probably null	Het
Igtp	C	G	11: 58,207,118 (GRCm38)	L372V	probably benign	Het
Igtp	C	G	11: 58,206,965 (GRCm38)	L321V	possibly damaging	Het
Igtp	T	G	11: 58,206,343 (GRCm38)	D113E	probably damaging	Het
Irgm2	T	A	11: 58,219,513 (GRCm38)	V10D	probably benign	Het
Irgm2	A	G	11: 58,219,563 (GRCm38)	N27D	probably benign	Het
Irgm2	T	C	11: 58,219,912 (GRCm38)	I143T	probably benign	Het
Irgm2	T	C	11: 58,219,954 (GRCm38)	L157S	probably benign	Het
Irgm2	C	G	11: 58,220,563 (GRCm38)	T360S	probably benign	Het
Irgm2	G	T	11: 58,220,412 (GRCm38)	A310S	possibly damaging	Het
Irgm2	A	C	11: 58,220,125 (GRCm38)	H214P	probably benign	Het
Irgm2	G	A	11: 58,220,098 (GRCm38)	S205N	probably benign	Het
Irgm2	G	A	11: 58,220,007 (GRCm38)	V175I	probably benign	Het
Itgae	A	G	11: 73,115,640 (GRCm38)	H378R	probably benign	Het
Itgae	G	A	11: 73,118,087 (GRCm38)	V465I	probably benign	Het
Itgae	A	T	11: 73,121,931 (GRCm38)	K696N	probably benign	Het
Itgae	G	T	11: 73,121,957 (GRCm38)	G705V	probably benign	Het
Itgae	C	G	11: 73,134,127 (GRCm38)	S1028W	probably benign	Het
Itgae	A	T	11: 73,103,960 (GRCm38)	Q46L	probably damaging	Het
Itgae	T	A	11: 73,103,887 (GRCm38)	L22M	possibly damaging	Het
Kif1c	C	T	11: 70,724,114 (GRCm38)	P578L	probably benign	Het
Larp1	G	A	11: 58,042,340 (GRCm38)	V257I	probably benign	Het
Llgl1	ACCCCAGCCCTTCTGATTACTGCCCTCCCCAGC	ACCCCAGC	11: 60,713,097 (GRCm38)		probably null	Het
Lrp1b	A	T	2: 40,750,934 (GRCm38)	N3499K		Het
Lypd8	G	A	11: 58,384,663 (GRCm38)	E75K	probably benign	Het
Lypd8	CAATCACCAACA	CAATCACCAACAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAACA	11: 58,390,233 (GRCm38)		probably benign	Het
Lypd8	C	A	11: 58,384,649 (GRCm38)	A70E	possibly damaging	Het
Lypd8	T	C	11: 58,382,775 (GRCm38)	Y27H	probably benign	Het
Lypd8l	T	G	11: 58,612,571 (GRCm38)	S44R	probably benign	Het
Lypd8l	A	G	11: 58,612,561 (GRCm38)	L47P	probably benign	Het
Lypd8l	G	A	11: 58,608,509 (GRCm38)	P161L	probably benign	Het
Mapk7	CGCTGGTGCTGG	CGCTGGTGCTGGTGCTGG	11: 61,490,212 (GRCm38)		probably benign	Het
Mapk7	TGGGGCAGGGGCAGGGGCAGG	TGGCGCTGGGGCAGGGGCAGGGGCAGGGGCAGG	11: 61,490,227 (GRCm38)		probably benign	Het
Mapk7	CAGG	CAGGGGAAGG	11: 61,490,244 (GRCm38)		probably benign	Het
Mfap3	G	A	11: 57,528,076 (GRCm38)	G21S	probably benign	Het
Mfap3	A	T	11: 57,528,040 (GRCm38)	I9F	possibly damaging	Het
Mrm3	C	T	11: 76,247,395 (GRCm38)	P203L	probably benign	Het
Mrm3	G	A	11: 76,244,077 (GRCm38)	R102K	probably benign	Het
Mroh2a	G	T	1: 88,235,216 (GRCm38)	Q360H	probably benign	Het
Mrpl22	G	A	11: 58,171,695 (GRCm38)	A4T	unknown	Het
Mrpl55	A	T	11: 59,204,589 (GRCm38)	L26F	probably benign	Het
Mrpl55	A	G	11: 59,204,173 (GRCm38)		probably null	Het
Myh1	A	C	11: 67,204,446 (GRCm38)	T211P	probably benign	Het
Myh2	T	C	11: 67,188,813 (GRCm38)	I1032T	probably benign	Het
Myh8	A	C	11: 67,297,486 (GRCm38)	N991T	probably benign	Het
Myocd	A	G	11: 65,184,592 (GRCm38)	S697P	probably benign	Het
Nlgn2	A	G	11: 69,828,394 (GRCm38)	V210A	possibly damaging	Het
Nlrp1a	C	G	11: 71,142,529 (GRCm38)		probably null	Het
Nlrp1a	T	C	11: 71,124,088 (GRCm38)	E112G	probably benign	Het
Nlrp1a	T	C	11: 71,099,616 (GRCm38)	I1038V	probably benign	Het
Nlrp1a	C	T	11: 71,097,251 (GRCm38)	R1131Q	probably damaging	Het
Nlrp1a	T	C	11: 71,092,243 (GRCm38)	K1299R	probably benign	Het
Nlrp1b	T	C	11: 71,182,677 (GRCm38)	I113M	probably benign	Het
Nlrp1b	T	A	11: 71,182,570 (GRCm38)	Q149L	probably benign	Het
Nlrp1b	A	T	11: 71,182,552 (GRCm38)	M155K	probably benign	Het
Nlrp1b	C	G	11: 71,182,544 (GRCm38)	E158Q	probably benign	Het
Nlrp1b	T	C	11: 71,182,454 (GRCm38)	T188A	probably benign	Het
Nlrp1b	A	T	11: 71,182,440 (GRCm38)	D192E	probably benign	Het
Nlrp1b	A	G	11: 71,182,322 (GRCm38)	Y232H	probably benign	Het
Nlrp1b	G	C	11: 71,182,309 (GRCm38)	T236R	probably benign	Het
Nlrp1b	A	G	11: 71,181,799 (GRCm38)	I406T	probably benign	Het
Nlrp1b	A	C	11: 71,181,713 (GRCm38)	S435A	probably benign	Het
Nlrp1b	C	A	11: 71,181,708 (GRCm38)	M436I	probably benign	Het
Nmur2	T	C	11: 56,040,278 (GRCm38)	I202M	probably benign	Het
Obscn	C	A	11: 59,081,872 (GRCm38)	G2116V	possibly damaging	Het
Obscn	C	T	11: 59,086,679 (GRCm38)	R1865H	probably benign	Het
Obscn	T	C	11: 59,086,701 (GRCm38)	R1858G	probably benign	Het
Obscn	A	G	11: 59,086,739 (GRCm38)	V1845A	probably benign	Het
Obscn	T	C	11: 59,090,747 (GRCm38)	H1815R	probably benign	Het
Obscn	A	G	11: 59,093,316 (GRCm38)	F1771S	probably benign	Het
Obscn	C	T	11: 59,093,413 (GRCm38)	V1739M	possibly damaging	Het
Obscn	G	T	11: 59,093,508 (GRCm38)	A1707D	possibly damaging	Het
Obscn	C	T	11: 59,093,509 (GRCm38)	A1707T	probably benign	Het
Obscn	G	A	11: 59,093,559 (GRCm38)	A1690V	probably benign	Het
Obscn	C	T	11: 59,099,909 (GRCm38)	A1613T	possibly damaging	Het
Obscn	T	C	11: 59,099,929 (GRCm38)	H1606R	probably benign	Het
Obscn	C	G	11: 59,103,341 (GRCm38)	A1572P	probably damaging	Het
Obscn	T	C	11: 59,103,514 (GRCm38)	H1514R	probably benign	Het
Obscn	G	A	11: 59,103,538 (GRCm38)	A1506V	probably benign	Het
Obscn	T	C	11: 59,112,554 (GRCm38)	E1306G	probably benign	Het
Obscn	T	C	11: 59,112,636 (GRCm38)	M1279V	probably benign	Het
Obscn	T	C	11: 59,122,737 (GRCm38)	M1095V	probably benign	Het
Obscn	C	T	11: 59,128,066 (GRCm38)	A949T	probably benign	Het
Obscn	C	T	11: 59,128,069 (GRCm38)	V973M	probably damaging	Het
Obscn	T	C	11: 59,129,687 (GRCm38)	M844V	probably benign	Het
Obscn	G	T	11: 59,129,837 (GRCm38)	L794M	probably benign	Het
Obscn	C	T	11: 59,130,623 (GRCm38)	R797H	probably damaging	Het
Obscn	C	T	11: 59,133,111 (GRCm38)	A578T	possibly damaging	Het
Obscn	G	A	11: 59,133,240 (GRCm38)	P535S	probably damaging	Het
Obscn	C	G	11: 59,133,246 (GRCm38)	A533P	probably benign	Het
Obscn	T	C	11: 59,135,679 (GRCm38)	I233V	probably benign	Het
Obscn	C	G	11: 59,079,896 (GRCm38)	V2328L	probably benign	Het
Obscn	G	A	11: 59,079,158 (GRCm38)	R53C	probably damaging	Het
Obscn	C	T	11: 59,076,508 (GRCm38)	V2792I	possibly damaging	Het
Obscn	C	A	11: 59,069,931 (GRCm38)	A3185S	probably benign	Het
Obscn	C	T	11: 59,067,829 (GRCm38)	V3433I	probably benign	Het
Obscn	G	A	11: 59,067,147 (GRCm38)	R3576C	probably benign	Het
Obscn	T	C	11: 59,063,576 (GRCm38)	K3727E	probably damaging	Het
Obscn	T	C	11: 59,063,474 (GRCm38)	T4037A		Het
Obscn	CCACACACACACAC	CCACACACACAC	11: 59,063,453 (GRCm38)		probably null	Het
Obscn	C	T	11: 59,062,139 (GRCm38)	D4113N	probably damaging	Het
Obscn	G	C	11: 59,062,133 (GRCm38)	P4115A	probably benign	Het
Obscn	C	T	11: 59,061,582 (GRCm38)	R3887K	probably benign	Het
Obscn	C	T	11: 59,061,562 (GRCm38)	G3894R	probably benign	Het
Obscn	C	A	11: 59,060,997 (GRCm38)	G3977W	probably damaging	Het
Obscn	A	G	11: 59,056,769 (GRCm38)	M4478T		Het
Obscn	G	T	11: 59,056,110 (GRCm38)	A4066E	possibly damaging	Het
Obscn	C	T	11: 59,055,514 (GRCm38)	R4455K	probably benign	Het
Obscn	T	C	11: 59,055,505 (GRCm38)	D4458G	probably damaging	Het
Obscn	C	T	11: 59,055,457 (GRCm38)	R4474H	probably damaging	Het
Obscn	T	C	11: 59,054,834 (GRCm38)	T4184A	probably benign	Het
Obscn	C	T	11: 59,054,350 (GRCm38)	R4614Q	probably benign	Het
Obscn	T	C	11: 59,054,218 (GRCm38)	E4658G	probably benign	Het
Obscn	T	C	11: 59,053,825 (GRCm38)	K4681R	probably benign	Het
Obscn	C	T	11: 59,053,768 (GRCm38)	R4700Q	probably benign	Het
Obscn	T	C	11: 59,052,613 (GRCm38)	M4237V	probably benign	Het
Obscn	G	A	11: 59,051,557 (GRCm38)	T4372M	probably benign	Het
Obscn	T	C	11: 59,049,797 (GRCm38)	T5307A		Het
Obscn	C	A	11: 59,049,788 (GRCm38)	R4593S	possibly damaging	Het
Obscn	C	T	11: 59,049,480 (GRCm38)	D5354N		Het
Obscn	G	A	11: 59,043,052 (GRCm38)	R5329C	probably benign	Het
Obscn	G	A	11: 59,043,027 (GRCm38)	A5337V	probably benign	Het
Obscn	T	C	11: 59,042,950 (GRCm38)	T5363A	probably benign	Het
Obscn	T	C	11: 59,041,775 (GRCm38)	I4869V	probably benign	Het
Obscn	T	A	11: 59,039,164 (GRCm38)	Q5075L	probably damaging	Het
Obscn	G	C	11: 59,039,150 (GRCm38)	P5080A	probably benign	Het
Obscn	C	T	11: 59,031,108 (GRCm38)	R5954Q	probably damaging	Het
Obscn	G	C	11: 59,013,188 (GRCm38)	T7320S	probably benign	Het
Obscn	C	G	11: 59,009,193 (GRCm38)	G938A	probably benign	Het
Obscn	G	A	11: 59,000,889 (GRCm38)	A6939V	probably benign	Het
Olfr329-ps	G	T	11: 58,543,446 (GRCm38)	S23Y	probably benign	Het
Or11l3	G	A	11: 58,625,249 (GRCm38)	S79F	probably benign	Het
Or11l3	C	G	11: 58,625,304 (GRCm38)	G61R	probably benign	Het
Or11l3	G	A	11: 58,625,762 (GRCm38)	P95S	probably benign	Het
Or11l3	T	G	11: 58,625,793 (GRCm38)	K84N	probably benign	Het
Or11l3	A	C	11: 58,625,906 (GRCm38)	C46G	possibly damaging	Het
Or2ab1	A	C	11: 58,597,518 (GRCm38)	I35L	probably benign	Het
Or2ab1	A	G	11: 58,597,530 (GRCm38)	I39V	probably benign	Het
Or2ab1	A	G	11: 58,597,665 (GRCm38)	S84G	possibly damaging	Het
Or2ab1	A	G	11: 58,597,950 (GRCm38)	S179G	probably benign	Het
Or2ak4	G	A	11: 58,757,967 (GRCm38)	A101T	probably benign	Het
Or2ak4	C	T	11: 58,758,069 (GRCm38)	L135F	probably benign	Het
Or2ak4	A	G	11: 58,758,105 (GRCm38)	S147G	probably benign	Het
Or2ak4	A	C	11: 58,758,360 (GRCm38)	K232Q	probably benign	Het
Or2ak4	A	C,T	11: 58,758,342 (GRCm38)	I226L	probably benign	Het
Or2ak4	G	A	11: 58,758,327 (GRCm38)	V221M	probably damaging	Het
Or2ak5	G	A	11: 58,721,096 (GRCm38)		probably benign	Het
Or2ak6	A	C	11: 58,701,958 (GRCm38)	I86L	probably benign	Het
Or2ak6	C	T	11: 58,702,327 (GRCm38)	L209F	possibly damaging	Het
Or2ak6	C	A	11: 58,702,396 (GRCm38)	Q232K	probably benign	Het
Or2ak7	G	T	11: 58,683,932 (GRCm38)	D20Y	probably benign	Het
Or2ak7	T	C	11: 58,683,989 (GRCm38)	F39L	probably benign	Het
Or2ak7	G	A	11: 58,684,115 (GRCm38)	V81M	probably benign	Het
Or2ak7	G	A	11: 58,684,257 (GRCm38)	R128Q	probably benign	Het
Or2ak7	C	T	11: 58,684,463 (GRCm38)	H197Y	probably benign	Het
Or2ak7	G	A	11: 58,684,715 (GRCm38)	V281I	probably benign	Het
Or2ak7	T	C	11: 58,684,722 (GRCm38)	L283P	probably benign	Het
Or2av9	C	A	11: 58,489,748 (GRCm38)	E336*	probably null	Het
Or2av9	C	T	11: 58,490,297 (GRCm38)	A153T	probably benign	Het
Or2av9	T	C	11: 58,490,488 (GRCm38)	Q89R	probably benign	Het
Or2t43	C	T	11: 58,567,094 (GRCm38)	V84I	probably benign	Het
Or2t43	A	T	11: 58,566,695 (GRCm38)	S217T	probably benign	Het
Or2t43	G	A	11: 58,566,562 (GRCm38)	A261V	probably benign	Het
Or2t44	A	G	11: 58,786,947 (GRCm38)	T238A	probably damaging	Het
Or2t46	T	C	11: 58,580,931 (GRCm38)	V29A	probably benign	Het
Or2t46	G	A	11: 58,581,002 (GRCm38)	V53I	probably benign	Het
Or2t46	T	G	11: 58,581,296 (GRCm38)	L151V	probably benign	Het
Or2t46	G	C	11: 58,581,657 (GRCm38)	S271T	probably benign	Het
Or2t46	C	T	11: 58,580,924 (GRCm38)	H27Y	probably benign	Het
Or2t47	C	T	11: 58,552,114 (GRCm38)	A42T	probably benign	Het
Or2t47	C	T	11: 58,551,975 (GRCm38)	S88N	probably benign	Het
Or2t47	T	C	11: 58,551,561 (GRCm38)	K226R	probably benign	Het
Or2t49	C	T	11: 58,502,570 (GRCm38)	M1I	probably null	Het
Or2t49	C	G	11: 58,502,461 (GRCm38)	V38L	probably benign	Het
Or2t49	GGTGGATTGGTATGTGGAT	GGTGGAT	11: 58,502,386 (GRCm38)		probably benign	Het
Or2t49	C	A	11: 58,502,110 (GRCm38)	V155F	probably benign	Het
Or2t49	T	C	11: 58,502,101 (GRCm38)	I158V	probably benign	Het
Or2t49	T	C	11: 58,501,648 (GRCm38)	M309V	probably benign	Het
Or2w3	T	G	11: 58,666,516 (GRCm38)	I319R	probably benign	Het
Or2w3b	T	C	11: 58,732,649 (GRCm38)	H172R	probably benign	Het
Or2w3b	C	A	11: 58,733,222 (GRCm38)		probably benign	Het
Or2w3b	G	A	11: 58,732,469 (GRCm38)	A232V	probably benign	Het
Or2w3b	T	G	11: 58,732,374 (GRCm38)	N264H	probably benign	Het
Or5af2	T	C	11: 58,817,682 (GRCm38)	C225R	probably benign	Het
Or5af2	C	G	11: 58,817,417 (GRCm38)	H136Q	probably benign	Het
Or5af2	A	C	11: 58,817,394 (GRCm38)	I129L	probably benign	Het
Or5af2	C	G	11: 58,817,818 (GRCm38)	P270R	probably benign	Het
Or5af2	T	C	11: 58,817,296 (GRCm38)	V96A	probably benign	Het
Or5af2	A	G	11: 58,817,061 (GRCm38)	I18V	probably benign	Het
Or9e1	G	C	11: 58,841,081 (GRCm38)		probably benign	Het
Or9e1	G	T	11: 58,841,119 (GRCm38)	A2S	probably benign	Het
Or9e1	C	T	11: 58,841,206 (GRCm38)	L31F	probably benign	Het
Or9e1	T	C	11: 58,841,258 (GRCm38)	I48T	probably benign	Het
Or9e1	G	A	11: 58,841,743 (GRCm38)	A210T	probably benign	Het
Or9e1	A	G	11: 58,841,789 (GRCm38)	H225R	probably benign	Het
Ovca2	T	C	11: 75,178,702 (GRCm38)	T32A	probably benign	Het
Pgbd5	G	A	8: 124,380,216 (GRCm38)	R196C	probably damaging	Het
Pimreg	TCACA	TCA	11: 72,044,975 (GRCm38)		probably benign	Het
Pimreg	G	A	11: 72,045,153 (GRCm38)	R154H	probably damaging	Het
Pitpnm3	C	T	11: 72,120,143 (GRCm38)	R21Q	probably benign	Het
Pitpnm3	T	C	11: 72,064,129 (GRCm38)	K520E	probably benign	Het
Prpsap2	A	C	11: 61,756,252 (GRCm38)	V21G	possibly damaging	Het
Rabep1	C	CT	11: 70,940,084 (GRCm38)		probably null	Het
Rai1	A	G	11: 60,187,563 (GRCm38)	N818D	probably benign	Het
Rap1gap2	C	T	11: 74,596,895 (GRCm38)	E52K	probably benign	Het
Rc3h2	T	C	2: 37,399,600 (GRCm38)	H400R	possibly damaging	Het
Rnf112	A	G	11: 61,450,949 (GRCm38)	L343P	unknown	Het
Rnf167	C	CACAGGGA	11: 70,650,820 (GRCm38)		probably null	Het
Rpl26	A	G	11: 68,903,243 (GRCm38)	Y78C	probably benign	Het
Rtn4rl1	C	T	11: 75,266,037 (GRCm38)	P432S	probably benign	Het
Shisa6	GCCGCC	GCCGCCTCCGCC	11: 66,525,693 (GRCm38)		probably benign	Het
Slc10a2	G	A	8: 5,105,063 (GRCm38)	L41F	probably damaging	Het
Slc11a2	A	G	15: 100,408,099 (GRCm38)		probably null	Het
Slc15a5	G	T	6: 138,017,958 (GRCm38)	L122M		Het
Slc2a4	GGCCG	GG	11: 69,943,992 (GRCm38)		probably benign	Het
Slc2a4	GCC	G	11: 69,943,993 (GRCm38)		probably null	Het
Slc6a4	G	A	11: 77,010,556 (GRCm38)	G39E	probably benign	Het
Slc6a4	A	G	11: 77,013,032 (GRCm38)	K152R	probably benign	Het
Smcr8	C	A	11: 60,779,873 (GRCm38)	R616S	probably benign	Het
Smcr8	T	C	11: 60,779,106 (GRCm38)	V360A	probably benign	Het
Smcr8	A	G	11: 60,777,980 (GRCm38)		probably benign	Het
Smg6	G	T	11: 75,156,266 (GRCm38)	A1262S	probably benign	Het
Spns3	T	C	11: 72,550,037 (GRCm38)	I58V	probably benign	Het
Spns3	G	A	11: 72,550,091 (GRCm38)	P40S	probably benign	Het
Spns3	T	C	11: 72,550,160 (GRCm38)	S17G	probably benign	Het
Srebf1	C	T	11: 60,206,235 (GRCm38)	V256M	probably benign	Het
Tbc1d32	G	T	10: 56,170,881 (GRCm38)	L564M	probably damaging	Het
Tekt1	T	C	11: 72,359,771 (GRCm38)	Q33R	probably benign	Het
Timm22	T	G	11: 76,407,117 (GRCm38)	V18G	probably benign	Het
Tmc3	T	A	7: 83,612,478 (GRCm38)	L588H	probably damaging	Het
Tmem102	C	G	11: 69,805,076 (GRCm38)	G53A	possibly damaging	Het
Tmem102	G	C	11: 69,805,101 (GRCm38)	R45G	probably benign	Het
Tmem11	A	G	11: 60,875,832 (GRCm38)		probably benign	Het
Tom1l2	C	T	11: 60,241,856 (GRCm38)	A414T	probably benign	Het
Top3a	C	T	11: 60,750,584 (GRCm38)	G425S	probably benign	Het
Trim16	C	T	11: 62,820,602 (GRCm38)	A33V	probably benign	Het
Trim16	G	C	11: 62,820,676 (GRCm38)	V58L	probably benign	Het
Trim16	TGAAGA	TGAAGAAGA	11: 62,820,690 (GRCm38)		probably benign	Het
Trim16	A	AAGC	11: 62,820,695 (GRCm38)		probably benign	Het
Trim16	G	A	11: 62,836,817 (GRCm38)	E322K	probably benign	Het
Trim16	T	C	11: 62,840,746 (GRCm38)	V481A	probably benign	Het
Trim16	C	A	11: 62,840,849 (GRCm38)	D515E	probably benign	Het
Trim17	A	G	11: 58,970,446 (GRCm38)	N259S	probably benign	Het
Trim17	G	A	11: 58,965,505 (GRCm38)	M129I	probably benign	Het
Trim58	C	A	11: 58,640,858 (GRCm38)	L131M	possibly damaging	Het
Trim58	A	G	11: 58,651,660 (GRCm38)	N482S	probably benign	Het
Trpv1	C	A	11: 73,254,291 (GRCm38)	D734E	probably benign	Het
Trpv1	C	G	11: 73,240,601 (GRCm38)	P322A	possibly damaging	Het
Trpv3	A	G	11: 73,283,676 (GRCm38)	T290A	probably benign	Het
Trpv3	G	A	11: 73,278,977 (GRCm38)	A125T	probably benign	Het
Trpv3	C	T	11: 73,269,687 (GRCm38)	A9V	probably benign	Het
Tvp23b	A	C	11: 62,881,943 (GRCm38)	N7H	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984 (GRCm38)		probably benign	Het
Uqcrc2	A	C	7: 120,640,293 (GRCm38)	K109N	probably benign	Het
Usp43	C	T	11: 67,856,506 (GRCm38)	G792S	probably benign	Het
Usp43	AGGGC	AGGGCAGGGGATGAACCTCGGGC	11: 67,855,719 (GRCm38)		probably benign	Het
Vamp2	G	A	11: 69,090,063 (GRCm38)	G124R	possibly damaging	Het
Vamp2	C	T	11: 69,088,585 (GRCm38)		probably benign	Het
Vat1l	A	C	8: 114,205,723 (GRCm38)	K3T	probably damaging	Het
Vmn2r120	A	T	17: 57,522,436 (GRCm38)	V487E	probably damaging	Het
Xaf1	T	C	11: 72,309,055 (GRCm38)	L206S	unknown	Het
Xaf1	G	C	11: 72,309,030 (GRCm38)	V198L	unknown	Het
Xaf1	GGCT	GGCTGGCCAGCT	11: 72,309,020 (GRCm38)		probably null	Het
Xaf1	T	G	11: 72,308,966 (GRCm38)	C176W	unknown	Het
Xaf1	A	G	11: 72,308,650 (GRCm38)	E71G	probably benign	Het
Xaf1	C	A	11: 72,306,608 (GRCm38)	L137I	probably benign	Het
Xaf1	G	C	11: 72,306,603 (GRCm38)	C135S	probably damaging	Het
Xaf1	G	A	11: 72,306,600 (GRCm38)	R134H	probably benign	Het
Zar1l	C	A	5: 150,507,193 (GRCm38)	R251I	possibly damaging	Het
Zfp286	A	G	11: 62,787,969 (GRCm38)	V44A	probably benign	Het
Zfp286	G	A	11: 62,784,956 (GRCm38)	T60M	probably damaging	Het
Zfp287	G	A	11: 62,722,931 (GRCm38)	R225*	probably null	Het
Zfp287	C	G	11: 62,715,349 (GRCm38)	C244S	probably benign	Het
Zfp287	C	T	11: 62,713,807 (GRCm38)	R758H	probably benign	Het
Zfp39	T	A	11: 58,890,925 (GRCm38)	K337M	probably benign	Het
Zfp39	T	A	11: 58,891,141 (GRCm38)	H265L	probably damaging	Het
Zfp39	A	G	11: 58,890,898 (GRCm38)	V346A	probably benign	Het
Zfp39	A	C	11: 58,890,886 (GRCm38)	V350G	probably benign	Het
Zfp39	A	C	11: 58,890,876 (GRCm38)	H353Q	probably damaging	Het
Zfp39	A	G	11: 58,890,779 (GRCm38)	S386P	probably benign	Het
Zfp39	G	T	11: 58,890,771 (GRCm38)	N388K	probably benign	Het
Zfp39	T	C	11: 58,890,700 (GRCm38)	N412S	possibly damaging	Het
Zfp39	A	G	11: 58,891,297 (GRCm38)	I213T	probably benign	Het
Zfp39	T	C	11: 58,891,316 (GRCm38)	K207E	probably benign	Het
Zfp39	G	T	11: 58,900,581 (GRCm38)	S93R	probably benign	Het
Zfp39	T	G	11: 58,900,583 (GRCm38)	S93R	probably benign	Het
Zfp39	T	C	11: 58,890,448 (GRCm38)	D496G	possibly damaging	Het
Zfp39	G	C	11: 58,890,447 (GRCm38)	D496E	probably benign	Het
Zfp39	G	C	11: 58,890,304 (GRCm38)	T544R	possibly damaging	Het
Zfp39	A	C	11: 58,890,047 (GRCm38)	Y630D	probably benign	Het
Zfp39	G	C	11: 58,890,045 (GRCm38)	Y630*	probably null	Het
Zfp672	G	T	11: 58,329,626 (GRCm38)	T49K	unknown	Het
Zfp692	G	A	11: 58,310,018 (GRCm38)	V242I	probably benign	Het
Zfp692	G	T	11: 58,309,033 (GRCm38)	E149D	probably benign	Het
Zzef1	G	A	11: 72,889,182 (GRCm38)	R1927H	probably benign	Het

Other mutations in Kmt2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Kmt2d	APN	15	98,862,333 (GRCm38)	missense	unknown
IGL00927:Kmt2d	APN	15	98,845,009 (GRCm38)	unclassified	probably benign
IGL01123:Kmt2d	APN	15	98,837,148 (GRCm38)	missense	unknown
IGL01288:Kmt2d	APN	15	98,865,044 (GRCm38)	missense	probably damaging	1.00
IGL01538:Kmt2d	APN	15	98,860,657 (GRCm38)	unclassified	probably benign
IGL01575:Kmt2d	APN	15	98,846,855 (GRCm38)	utr 3 prime	probably benign
IGL01584:Kmt2d	APN	15	98,856,369 (GRCm38)	unclassified	probably benign
IGL01750:Kmt2d	APN	15	98,853,168 (GRCm38)	unclassified	probably benign
IGL02163:Kmt2d	APN	15	98,835,228 (GRCm38)	unclassified	probably benign
IGL02209:Kmt2d	APN	15	98,854,567 (GRCm38)	unclassified	probably benign
IGL02253:Kmt2d	APN	15	98,858,175 (GRCm38)	unclassified	probably benign
IGL02271:Kmt2d	APN	15	98,866,428 (GRCm38)	missense	possibly damaging	0.89
IGL02291:Kmt2d	APN	15	98,865,492 (GRCm38)	splice site	probably benign
IGL02448:Kmt2d	APN	15	98,844,110 (GRCm38)	unclassified	probably benign
IGL02472:Kmt2d	APN	15	98,850,077 (GRCm38)	missense	probably benign	0.23
IGL02496:Kmt2d	APN	15	98,857,558 (GRCm38)	unclassified	probably benign
IGL02527:Kmt2d	APN	15	98,841,747 (GRCm38)	unclassified	probably benign
IGL02576:Kmt2d	APN	15	98,864,120 (GRCm38)	missense	unknown
IGL02597:Kmt2d	APN	15	98,863,831 (GRCm38)	missense	unknown
IGL02609:Kmt2d	APN	15	98,851,793 (GRCm38)	unclassified	probably benign
IGL03085:Kmt2d	APN	15	98,839,940 (GRCm38)	unclassified	probably benign
IGL03102:Kmt2d	APN	15	98,855,543 (GRCm38)	missense	probably benign
IGL03123:Kmt2d	APN	15	98,861,771 (GRCm38)	missense	unknown
G1citation:Kmt2d	UTSW	15	98,849,459 (GRCm38)	unclassified	probably benign
R0091:Kmt2d	UTSW	15	98,844,479 (GRCm38)	unclassified	probably benign
R0136:Kmt2d	UTSW	15	98,854,278 (GRCm38)	unclassified	probably benign
R0243:Kmt2d	UTSW	15	98,850,137 (GRCm38)	unclassified	probably benign
R0276:Kmt2d	UTSW	15	98,850,311 (GRCm38)	unclassified	probably benign
R0477:Kmt2d	UTSW	15	98,853,581 (GRCm38)	unclassified	probably benign
R0478:Kmt2d	UTSW	15	98,853,581 (GRCm38)	unclassified	probably benign
R0586:Kmt2d	UTSW	15	98,835,207 (GRCm38)	unclassified	probably benign
R0632:Kmt2d	UTSW	15	98,853,581 (GRCm38)	unclassified	probably benign
R0678:Kmt2d	UTSW	15	98,850,413 (GRCm38)	unclassified	probably benign
R0780:Kmt2d	UTSW	15	98,862,857 (GRCm38)	missense	unknown
R0891:Kmt2d	UTSW	15	98,852,691 (GRCm38)	unclassified	probably benign
R1136:Kmt2d	UTSW	15	98,857,765 (GRCm38)	unclassified	probably benign
R1417:Kmt2d	UTSW	15	98,866,430 (GRCm38)	missense	probably damaging	0.99
R1499:Kmt2d	UTSW	15	98,844,938 (GRCm38)	unclassified	probably benign
R1510:Kmt2d	UTSW	15	98,856,377 (GRCm38)	unclassified	probably benign
R1586:Kmt2d	UTSW	15	98,865,053 (GRCm38)	splice site	probably benign
R1640:Kmt2d	UTSW	15	98,845,057 (GRCm38)	unclassified	probably benign
R1714:Kmt2d	UTSW	15	98,862,950 (GRCm38)	missense	unknown
R1725:Kmt2d	UTSW	15	98,845,234 (GRCm38)	unclassified	probably benign
R1728:Kmt2d	UTSW	15	98,865,132 (GRCm38)	missense	probably damaging	1.00
R1729:Kmt2d	UTSW	15	98,865,132 (GRCm38)	missense	probably damaging	1.00
R1741:Kmt2d	UTSW	15	98,845,234 (GRCm38)	unclassified	probably benign
R1744:Kmt2d	UTSW	15	98,865,047 (GRCm38)	missense	probably damaging	0.99
R1746:Kmt2d	UTSW	15	98,864,378 (GRCm38)	missense	probably damaging	0.97
R1753:Kmt2d	UTSW	15	98,843,482 (GRCm38)	unclassified	probably benign
R1782:Kmt2d	UTSW	15	98,857,548 (GRCm38)	unclassified	probably benign
R1789:Kmt2d	UTSW	15	98,852,074 (GRCm38)	unclassified	probably benign
R1802:Kmt2d	UTSW	15	98,862,985 (GRCm38)	missense	unknown
R1808:Kmt2d	UTSW	15	98,866,686 (GRCm38)	missense	probably damaging	1.00
R1822:Kmt2d	UTSW	15	98,861,780 (GRCm38)	missense	unknown
R1831:Kmt2d	UTSW	15	98,855,343 (GRCm38)	missense	probably damaging	0.97
R1920:Kmt2d	UTSW	15	98,855,591 (GRCm38)	missense	probably damaging	1.00
R1920:Kmt2d	UTSW	15	98,855,590 (GRCm38)	missense	probably damaging	0.96
R1956:Kmt2d	UTSW	15	98,859,590 (GRCm38)	unclassified	probably benign
R2100:Kmt2d	UTSW	15	98,846,480 (GRCm38)	unclassified	probably benign
R2120:Kmt2d	UTSW	15	98,839,529 (GRCm38)	unclassified	probably benign
R2188:Kmt2d	UTSW	15	98,839,300 (GRCm38)	unclassified	probably benign
R2191:Kmt2d	UTSW	15	98,861,049 (GRCm38)	critical splice donor site	probably null
R2234:Kmt2d	UTSW	15	98,865,248 (GRCm38)	missense	probably damaging	0.98
R2422:Kmt2d	UTSW	15	98,862,266 (GRCm38)	missense	unknown
R2762:Kmt2d	UTSW	15	98,852,055 (GRCm38)	unclassified	probably benign
R2895:Kmt2d	UTSW	15	98,843,939 (GRCm38)	unclassified	probably benign
R3624:Kmt2d	UTSW	15	98,842,902 (GRCm38)	unclassified	probably benign
R3791:Kmt2d	UTSW	15	98,844,149 (GRCm38)	unclassified	probably benign
R3794:Kmt2d	UTSW	15	98,837,359 (GRCm38)	unclassified	probably benign
R3871:Kmt2d	UTSW	15	98,851,021 (GRCm38)	unclassified	probably benign
R3958:Kmt2d	UTSW	15	98,855,549 (GRCm38)	missense	possibly damaging	0.69
R3983:Kmt2d	UTSW	15	98,846,046 (GRCm38)	unclassified	probably benign
R4211:Kmt2d	UTSW	15	98,840,189 (GRCm38)	unclassified	probably benign
R4212:Kmt2d	UTSW	15	98,845,003 (GRCm38)	unclassified	probably benign
R4240:Kmt2d	UTSW	15	98,844,571 (GRCm38)	unclassified	probably benign
R4246:Kmt2d	UTSW	15	98,840,089 (GRCm38)	unclassified	probably benign
R4361:Kmt2d	UTSW	15	98,863,670 (GRCm38)	missense	unknown
R4388:Kmt2d	UTSW	15	98,853,626 (GRCm38)	unclassified	probably benign
R4602:Kmt2d	UTSW	15	98,850,259 (GRCm38)	unclassified	probably benign
R4606:Kmt2d	UTSW	15	98,839,716 (GRCm38)	unclassified	probably benign
R4658:Kmt2d	UTSW	15	98,852,529 (GRCm38)	unclassified	probably benign
R4840:Kmt2d	UTSW	15	98,861,894 (GRCm38)	missense	unknown
R4895:Kmt2d	UTSW	15	98,844,487 (GRCm38)	unclassified	probably benign
R4906:Kmt2d	UTSW	15	98,849,539 (GRCm38)	unclassified	probably benign
R4976:Kmt2d	UTSW	15	98,847,194 (GRCm38)	utr 3 prime	probably benign
R5093:Kmt2d	UTSW	15	98,856,162 (GRCm38)	missense	probably damaging	1.00
R5119:Kmt2d	UTSW	15	98,847,194 (GRCm38)	utr 3 prime	probably benign
R5160:Kmt2d	UTSW	15	98,840,224 (GRCm38)	unclassified	probably benign
R5260:Kmt2d	UTSW	15	98,842,860 (GRCm38)	unclassified	probably benign
R5274:Kmt2d	UTSW	15	98,854,230 (GRCm38)	unclassified	probably benign
R5450:Kmt2d	UTSW	15	98,855,086 (GRCm38)	missense	probably damaging	1.00
R5461:Kmt2d	UTSW	15	98,852,109 (GRCm38)	unclassified	probably benign
R5462:Kmt2d	UTSW	15	98,852,109 (GRCm38)	unclassified	probably benign
R5463:Kmt2d	UTSW	15	98,852,109 (GRCm38)	unclassified	probably benign
R5465:Kmt2d	UTSW	15	98,852,109 (GRCm38)	unclassified	probably benign
R5467:Kmt2d	UTSW	15	98,852,109 (GRCm38)	unclassified	probably benign
R5481:Kmt2d	UTSW	15	98,862,005 (GRCm38)	missense	unknown
R5509:Kmt2d	UTSW	15	98,839,676 (GRCm38)	unclassified	probably benign
R5534:Kmt2d	UTSW	15	98,837,357 (GRCm38)	unclassified	probably benign
R5536:Kmt2d	UTSW	15	98,852,109 (GRCm38)	unclassified	probably benign
R5537:Kmt2d	UTSW	15	98,852,109 (GRCm38)	unclassified	probably benign
R5538:Kmt2d	UTSW	15	98,852,109 (GRCm38)	unclassified	probably benign
R5546:Kmt2d	UTSW	15	98,853,068 (GRCm38)	unclassified	probably benign
R5595:Kmt2d	UTSW	15	98,850,024 (GRCm38)	unclassified	probably benign
R5645:Kmt2d	UTSW	15	98,844,397 (GRCm38)	unclassified	probably benign
R5679:Kmt2d	UTSW	15	98,854,272 (GRCm38)	unclassified	probably benign
R5710:Kmt2d	UTSW	15	98,854,106 (GRCm38)	unclassified	probably benign
R5755:Kmt2d	UTSW	15	98,863,646 (GRCm38)	missense	unknown
R5817:Kmt2d	UTSW	15	98,862,363 (GRCm38)	missense	unknown
R5841:Kmt2d	UTSW	15	98,852,109 (GRCm38)	unclassified	probably benign
R5842:Kmt2d	UTSW	15	98,852,109 (GRCm38)	unclassified	probably benign
R5843:Kmt2d	UTSW	15	98,852,109 (GRCm38)	unclassified	probably benign
R5844:Kmt2d	UTSW	15	98,852,109 (GRCm38)	unclassified	probably benign
R5845:Kmt2d	UTSW	15	98,852,109 (GRCm38)	unclassified	probably benign
R6122:Kmt2d	UTSW	15	98,860,692 (GRCm38)	unclassified	probably benign
R6612:Kmt2d	UTSW	15	98,845,858 (GRCm38)	unclassified	probably benign
R6718:Kmt2d	UTSW	15	98,850,539 (GRCm38)	unclassified	probably benign
R6718:Kmt2d	UTSW	15	98,849,586 (GRCm38)	unclassified	probably benign
R6822:Kmt2d	UTSW	15	98,849,459 (GRCm38)	unclassified	probably benign
R6866:Kmt2d	UTSW	15	98,857,393 (GRCm38)	unclassified	probably benign
R6950:Kmt2d	UTSW	15	98,840,020 (GRCm38)	unclassified	probably benign
R7089:Kmt2d	UTSW	15	98,850,272 (GRCm38)	missense	unknown
R7120:Kmt2d	UTSW	15	98,861,065 (GRCm38)	missense	unknown
R7131:Kmt2d	UTSW	15	98,849,616 (GRCm38)	unclassified	probably benign
R7177:Kmt2d	UTSW	15	98,850,386 (GRCm38)	missense	unknown
R7194:Kmt2d	UTSW	15	98,843,833 (GRCm38)	missense	unknown
R7252:Kmt2d	UTSW	15	98,844,266 (GRCm38)	missense	unknown
R7282:Kmt2d	UTSW	15	98,854,104 (GRCm38)	missense	unknown
R7307:Kmt2d	UTSW	15	98,849,418 (GRCm38)	missense	unknown
R7313:Kmt2d	UTSW	15	98,856,623 (GRCm38)	missense	unknown
R7394:Kmt2d	UTSW	15	98,856,384 (GRCm38)	missense	unknown
R7404:Kmt2d	UTSW	15	98,845,495 (GRCm38)	missense	unknown
R7409:Kmt2d	UTSW	15	98,855,354 (GRCm38)	missense	probably damaging	1.00
R7414:Kmt2d	UTSW	15	98,839,856 (GRCm38)	missense	unknown
R7534:Kmt2d	UTSW	15	98,852,018 (GRCm38)	missense	unknown
R7575:Kmt2d	UTSW	15	98,849,611 (GRCm38)	unclassified	probably benign
R7650:Kmt2d	UTSW	15	98,850,870 (GRCm38)	missense	unknown
R7687:Kmt2d	UTSW	15	98,862,120 (GRCm38)	missense	unknown
R7699:Kmt2d	UTSW	15	98,843,719 (GRCm38)	missense	unknown
R7700:Kmt2d	UTSW	15	98,843,719 (GRCm38)	missense	unknown
R7765:Kmt2d	UTSW	15	98,852,334 (GRCm38)	missense	unknown
R7797:Kmt2d	UTSW	15	98,864,406 (GRCm38)	missense	probably benign	0.24
R7803:Kmt2d	UTSW	15	98,862,923 (GRCm38)	missense	unknown
R7952:Kmt2d	UTSW	15	98,850,768 (GRCm38)	missense	unknown
R8054:Kmt2d	UTSW	15	98,843,925 (GRCm38)	missense	unknown
R8084:Kmt2d	UTSW	15	98,842,064 (GRCm38)	missense	unknown
R8089:Kmt2d	UTSW	15	98,842,869 (GRCm38)	missense	unknown
R8133:Kmt2d	UTSW	15	98,864,942 (GRCm38)	missense	probably damaging	1.00
R8138:Kmt2d	UTSW	15	98,843,653 (GRCm38)	missense	unknown
R8343:Kmt2d	UTSW	15	98,852,597 (GRCm38)	missense	unknown
R8681:Kmt2d	UTSW	15	98,846,067 (GRCm38)	missense	unknown
R8694:Kmt2d	UTSW	15	98,844,734 (GRCm38)	missense	unknown
R8837:Kmt2d	UTSW	15	98,864,167 (GRCm38)	missense	unknown
R8855:Kmt2d	UTSW	15	98,856,356 (GRCm38)	missense	unknown
R8934:Kmt2d	UTSW	15	98,861,886 (GRCm38)	missense	unknown
R9100:Kmt2d	UTSW	15	98,849,951 (GRCm38)	missense	unknown
R9158:Kmt2d	UTSW	15	98,843,139 (GRCm38)	missense	unknown
R9190:Kmt2d	UTSW	15	98,852,015 (GRCm38)	missense	unknown
R9222:Kmt2d	UTSW	15	98,849,443 (GRCm38)	missense	unknown
R9263:Kmt2d	UTSW	15	98,849,618 (GRCm38)	frame shift	probably null
R9336:Kmt2d	UTSW	15	98,845,816 (GRCm38)	missense	unknown
R9397:Kmt2d	UTSW	15	98,850,113 (GRCm38)	missense	unknown
R9415:Kmt2d	UTSW	15	98,839,705 (GRCm38)	missense	unknown
R9482:Kmt2d	UTSW	15	98,865,165 (GRCm38)	missense	probably damaging	1.00
R9529:Kmt2d	UTSW	15	98,839,768 (GRCm38)	missense	unknown
R9610:Kmt2d	UTSW	15	98,845,176 (GRCm38)	unclassified	probably benign
R9611:Kmt2d	UTSW	15	98,845,176 (GRCm38)	unclassified	probably benign
R9611:Kmt2d	UTSW	15	98,845,173 (GRCm38)	unclassified	probably benign
R9612:Kmt2d	UTSW	15	98,845,176 (GRCm38)	unclassified	probably benign
R9613:Kmt2d	UTSW	15	98,845,176 (GRCm38)	unclassified	probably benign
R9644:Kmt2d	UTSW	15	98,845,504 (GRCm38)	missense	unknown
R9716:Kmt2d	UTSW	15	98,843,402 (GRCm38)	missense	unknown
R9763:Kmt2d	UTSW	15	98,845,176 (GRCm38)	unclassified	probably benign
R9782:Kmt2d	UTSW	15	98,866,716 (GRCm38)	missense	probably damaging	1.00
X0018:Kmt2d	UTSW	15	98,852,922 (GRCm38)	unclassified	probably benign
X0024:Kmt2d	UTSW	15	98,853,053 (GRCm38)	unclassified	probably benign
X0062:Kmt2d	UTSW	15	98,849,819 (GRCm38)	unclassified	probably benign
Z1187:Kmt2d	UTSW	15	98,851,744 (GRCm38)	missense	unknown
Z1189:Kmt2d	UTSW	15	98,851,744 (GRCm38)	missense	unknown
Z1190:Kmt2d	UTSW	15	98,851,744 (GRCm38)	missense	unknown
Z1192:Kmt2d	UTSW	15	98,851,744 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAGCAGATGACGGTGTAGCC -3'
(R):5'- GGATGCAGGCATATCTAGCCTC -3'

Sequencing Primer
(F):5'- TGTAGCCACCTTCAGGACG -3'
(R):5'- GGCATATCTAGCCTCAGCCAG -3'

Posted On

2021-03-08