Mutagenetix > Incidental Mutation

Incidental Mutation 'R1808:Kmt2d'

203634

Institutional Source

Beutler Lab

Gene Symbol

Kmt2d

Ensembl Gene

ENSMUSG00000048154

Gene Name

lysine (K)-specific methyltransferase 2D

Synonyms

Mll4, Mll2, C430014K11Rik

MMRRC Submission

039837-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98729550-98769085 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98764567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 12 (D12G)

Ref Sequence

ENSEMBL: ENSMUSP00000135941 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000023741
AA Change: D12G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023741
Gene: ENSMUSG00000048154
AA Change: D12G

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 damaging
Transcript: ENSMUST00000178486
AA Change: D12G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135941
Gene: ENSMUSG00000048154
AA Change: D12G

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	G	T	5: 146,121,691 (GRCm39)	Y69*	probably null	Het
2310011J03Rik	A	G	10: 80,156,015 (GRCm39)		probably null	Het
A2ml1	A	C	6: 128,520,262 (GRCm39)	D1367E	probably damaging	Het
Adam6a	C	G	12: 113,508,334 (GRCm39)	L236V	probably benign	Het
Arf3	T	C	15: 98,638,954 (GRCm39)	N101S	probably benign	Het
Arhgap42	T	C	9: 9,180,051 (GRCm39)	E76G	probably damaging	Het
Atp2a1	A	G	7: 126,052,573 (GRCm39)	F382S	probably damaging	Het
Bud13	T	A	9: 46,199,705 (GRCm39)	F355L	probably benign	Het
C2	G	A	17: 35,083,508 (GRCm39)	P349S	probably damaging	Het
Cbl	C	A	9: 44,075,526 (GRCm39)	G373V	probably damaging	Het
Ccdc3	T	A	2: 5,142,896 (GRCm39)	L51Q	probably damaging	Het
Ccdc34	T	A	2: 109,874,601 (GRCm39)	M320K	probably benign	Het
Cntln	A	G	4: 85,015,000 (GRCm39)	E1097G	probably damaging	Het
Ctsc	A	C	7: 87,948,750 (GRCm39)	K195Q	possibly damaging	Het
Ctsf	C	T	19: 4,906,562 (GRCm39)	P163L	probably benign	Het
Dcxr	A	T	11: 120,616,438 (GRCm39)		probably null	Het
Dgki	T	C	6: 37,126,509 (GRCm39)	E157G	possibly damaging	Het
Dnah8	T	C	17: 30,903,160 (GRCm39)	L933P	probably damaging	Het
Dtna	T	C	18: 23,702,697 (GRCm39)	L76P	probably damaging	Het
Fcgbp	T	A	7: 27,784,515 (GRCm39)	C192S	probably benign	Het
Galnt5	T	A	2: 57,916,137 (GRCm39)	D683E	probably benign	Het
Greb1l	G	A	18: 10,542,143 (GRCm39)	A1297T	probably benign	Het
Grik4	T	C	9: 42,540,322 (GRCm39)	N286S	probably benign	Het
Hrc	A	T	7: 44,986,202 (GRCm39)	E451V	probably damaging	Het
Hrh3	G	A	2: 179,741,577 (GRCm39)		probably benign	Het
Ints13	A	G	6: 146,455,695 (GRCm39)	I152T	probably damaging	Het
Irgm1	A	T	11: 48,757,259 (GRCm39)	V184D	probably damaging	Het
Itga5	C	T	15: 103,258,826 (GRCm39)	A791T	probably damaging	Het
Kcp	T	C	6: 29,505,654 (GRCm39)	T73A	probably benign	Het
Kidins220	A	G	12: 25,053,008 (GRCm39)	T433A	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Mms19	A	G	19: 41,954,698 (GRCm39)	S74P	probably damaging	Het
Myh1	G	T	11: 67,102,300 (GRCm39)	E864*	probably null	Het
Nek1	A	G	8: 61,469,264 (GRCm39)	D107G	probably damaging	Het
Npc1	T	C	18: 12,327,149 (GRCm39)	N1149D	probably damaging	Het
Or14j6	T	A	17: 38,214,661 (GRCm39)	S75T	probably damaging	Het
Or3a1b	C	A	11: 74,012,257 (GRCm39)	S47R	probably damaging	Het
Or4k36	T	C	2: 111,146,343 (GRCm39)	V173A	probably benign	Het
Or5p79	A	C	7: 108,221,817 (GRCm39)	K266T	possibly damaging	Het
Osbp	T	C	19: 11,948,142 (GRCm39)	S150P	probably damaging	Het
Paf1	T	C	7: 28,096,247 (GRCm39)	Y287H	probably damaging	Het
Pdgfrb	T	C	18: 61,201,174 (GRCm39)	V420A	probably benign	Het
Pdss1	G	T	2: 22,796,846 (GRCm39)	E120*	probably null	Het
Pink1	A	T	4: 138,044,630 (GRCm39)	V339E	probably damaging	Het
Pkn3	C	T	2: 29,969,663 (GRCm39)	R58C	probably damaging	Het
Pm20d1	G	A	1: 131,730,165 (GRCm39)	V235I	probably benign	Het
Ppp2r2a	A	G	14: 67,276,412 (GRCm39)	I31T	probably damaging	Het
Rbms3	T	C	9: 116,651,894 (GRCm39)	E152G	probably damaging	Het
Rfx1	A	C	8: 84,821,677 (GRCm39)	Q804H	probably damaging	Het
Rpe	G	T	1: 66,754,356 (GRCm39)	V143L	probably benign	Het
Sap30l	G	T	11: 57,700,771 (GRCm39)	V142L	probably benign	Het
Sh3tc1	T	C	5: 35,863,268 (GRCm39)	Q973R	probably benign	Het
Slc10a2	T	C	8: 5,154,856 (GRCm39)	T110A	probably damaging	Het
Snrnp200	A	T	2: 127,060,947 (GRCm39)		probably null	Het
Snrnp200	G	A	2: 127,060,948 (GRCm39)		probably null	Het
Spaca3	T	A	11: 80,758,511 (GRCm39)	V158E	probably damaging	Het
Sprtn	C	A	8: 125,629,770 (GRCm39)	N354K	probably benign	Het
Stab1	T	A	14: 30,863,101 (GRCm39)	Y2166F	possibly damaging	Het
Tmem106c	G	A	15: 97,866,548 (GRCm39)		probably null	Het
Tnc	A	G	4: 63,918,168 (GRCm39)	S1248P	probably damaging	Het
Tshr	T	C	12: 91,504,090 (GRCm39)	F343L	probably benign	Het
Ttn	C	A	2: 76,555,698 (GRCm39)	A30436S	probably damaging	Het
Ubxn2a	A	T	12: 4,935,839 (GRCm39)	M68K	probably benign	Het
Ucp2	T	C	7: 100,148,021 (GRCm39)	V238A	probably damaging	Het
Urgcp	C	A	11: 5,667,242 (GRCm39)	L365F	probably damaging	Het
Vezt	A	T	10: 93,826,026 (GRCm39)	D328E	probably damaging	Het
Vmn1r168	G	T	7: 23,240,184 (GRCm39)	V14L	probably benign	Het
Vps13b	T	C	15: 35,792,205 (GRCm39)	F2158L	probably benign	Het

Other mutations in Kmt2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Kmt2d	APN	15	98,760,214 (GRCm39)	missense	unknown
IGL00927:Kmt2d	APN	15	98,742,890 (GRCm39)	unclassified	probably benign
IGL01123:Kmt2d	APN	15	98,735,029 (GRCm39)	missense	unknown
IGL01288:Kmt2d	APN	15	98,762,925 (GRCm39)	missense	probably damaging	1.00
IGL01538:Kmt2d	APN	15	98,758,538 (GRCm39)	unclassified	probably benign
IGL01575:Kmt2d	APN	15	98,744,736 (GRCm39)	utr 3 prime	probably benign
IGL01584:Kmt2d	APN	15	98,754,250 (GRCm39)	unclassified	probably benign
IGL01750:Kmt2d	APN	15	98,751,049 (GRCm39)	unclassified	probably benign
IGL02163:Kmt2d	APN	15	98,733,109 (GRCm39)	unclassified	probably benign
IGL02209:Kmt2d	APN	15	98,752,448 (GRCm39)	unclassified	probably benign
IGL02253:Kmt2d	APN	15	98,756,056 (GRCm39)	unclassified	probably benign
IGL02271:Kmt2d	APN	15	98,764,309 (GRCm39)	missense	possibly damaging	0.89
IGL02291:Kmt2d	APN	15	98,763,373 (GRCm39)	splice site	probably benign
IGL02448:Kmt2d	APN	15	98,741,991 (GRCm39)	unclassified	probably benign
IGL02472:Kmt2d	APN	15	98,747,958 (GRCm39)	missense	probably benign	0.23
IGL02496:Kmt2d	APN	15	98,755,439 (GRCm39)	unclassified	probably benign
IGL02527:Kmt2d	APN	15	98,739,628 (GRCm39)	unclassified	probably benign
IGL02576:Kmt2d	APN	15	98,762,001 (GRCm39)	missense	unknown
IGL02597:Kmt2d	APN	15	98,761,712 (GRCm39)	missense	unknown
IGL02609:Kmt2d	APN	15	98,749,674 (GRCm39)	unclassified	probably benign
IGL03085:Kmt2d	APN	15	98,737,821 (GRCm39)	unclassified	probably benign
IGL03102:Kmt2d	APN	15	98,753,424 (GRCm39)	missense	probably benign
IGL03123:Kmt2d	APN	15	98,759,652 (GRCm39)	missense	unknown
G1citation:Kmt2d	UTSW	15	98,747,340 (GRCm39)	unclassified	probably benign
R0091:Kmt2d	UTSW	15	98,742,360 (GRCm39)	unclassified	probably benign
R0136:Kmt2d	UTSW	15	98,752,159 (GRCm39)	unclassified	probably benign
R0243:Kmt2d	UTSW	15	98,748,018 (GRCm39)	unclassified	probably benign
R0276:Kmt2d	UTSW	15	98,748,192 (GRCm39)	unclassified	probably benign
R0477:Kmt2d	UTSW	15	98,751,462 (GRCm39)	unclassified	probably benign
R0478:Kmt2d	UTSW	15	98,751,462 (GRCm39)	unclassified	probably benign
R0586:Kmt2d	UTSW	15	98,733,088 (GRCm39)	unclassified	probably benign
R0632:Kmt2d	UTSW	15	98,751,462 (GRCm39)	unclassified	probably benign
R0678:Kmt2d	UTSW	15	98,748,294 (GRCm39)	unclassified	probably benign
R0780:Kmt2d	UTSW	15	98,760,738 (GRCm39)	missense	unknown
R0891:Kmt2d	UTSW	15	98,750,572 (GRCm39)	unclassified	probably benign
R1136:Kmt2d	UTSW	15	98,755,646 (GRCm39)	unclassified	probably benign
R1417:Kmt2d	UTSW	15	98,764,311 (GRCm39)	missense	probably damaging	0.99
R1499:Kmt2d	UTSW	15	98,742,819 (GRCm39)	unclassified	probably benign
R1510:Kmt2d	UTSW	15	98,754,258 (GRCm39)	unclassified	probably benign
R1586:Kmt2d	UTSW	15	98,762,934 (GRCm39)	splice site	probably benign
R1640:Kmt2d	UTSW	15	98,742,938 (GRCm39)	unclassified	probably benign
R1714:Kmt2d	UTSW	15	98,760,831 (GRCm39)	missense	unknown
R1725:Kmt2d	UTSW	15	98,743,115 (GRCm39)	unclassified	probably benign
R1728:Kmt2d	UTSW	15	98,763,013 (GRCm39)	missense	probably damaging	1.00
R1729:Kmt2d	UTSW	15	98,763,013 (GRCm39)	missense	probably damaging	1.00
R1741:Kmt2d	UTSW	15	98,743,115 (GRCm39)	unclassified	probably benign
R1744:Kmt2d	UTSW	15	98,762,928 (GRCm39)	missense	probably damaging	0.99
R1746:Kmt2d	UTSW	15	98,762,259 (GRCm39)	missense	probably damaging	0.97
R1753:Kmt2d	UTSW	15	98,741,363 (GRCm39)	unclassified	probably benign
R1782:Kmt2d	UTSW	15	98,755,429 (GRCm39)	unclassified	probably benign
R1789:Kmt2d	UTSW	15	98,749,955 (GRCm39)	unclassified	probably benign
R1802:Kmt2d	UTSW	15	98,760,866 (GRCm39)	missense	unknown
R1822:Kmt2d	UTSW	15	98,759,661 (GRCm39)	missense	unknown
R1831:Kmt2d	UTSW	15	98,753,224 (GRCm39)	missense	probably damaging	0.97
R1920:Kmt2d	UTSW	15	98,753,472 (GRCm39)	missense	probably damaging	1.00
R1920:Kmt2d	UTSW	15	98,753,471 (GRCm39)	missense	probably damaging	0.96
R1956:Kmt2d	UTSW	15	98,757,471 (GRCm39)	unclassified	probably benign
R2100:Kmt2d	UTSW	15	98,744,361 (GRCm39)	unclassified	probably benign
R2120:Kmt2d	UTSW	15	98,737,410 (GRCm39)	unclassified	probably benign
R2188:Kmt2d	UTSW	15	98,737,181 (GRCm39)	unclassified	probably benign
R2191:Kmt2d	UTSW	15	98,758,930 (GRCm39)	critical splice donor site	probably null
R2234:Kmt2d	UTSW	15	98,763,129 (GRCm39)	missense	probably damaging	0.98
R2422:Kmt2d	UTSW	15	98,760,147 (GRCm39)	missense	unknown
R2762:Kmt2d	UTSW	15	98,749,936 (GRCm39)	unclassified	probably benign
R2895:Kmt2d	UTSW	15	98,741,820 (GRCm39)	unclassified	probably benign
R3624:Kmt2d	UTSW	15	98,740,783 (GRCm39)	unclassified	probably benign
R3791:Kmt2d	UTSW	15	98,742,030 (GRCm39)	unclassified	probably benign
R3794:Kmt2d	UTSW	15	98,735,240 (GRCm39)	unclassified	probably benign
R3871:Kmt2d	UTSW	15	98,748,902 (GRCm39)	unclassified	probably benign
R3958:Kmt2d	UTSW	15	98,753,430 (GRCm39)	missense	possibly damaging	0.69
R3983:Kmt2d	UTSW	15	98,743,927 (GRCm39)	unclassified	probably benign
R4211:Kmt2d	UTSW	15	98,738,070 (GRCm39)	unclassified	probably benign
R4212:Kmt2d	UTSW	15	98,742,884 (GRCm39)	unclassified	probably benign
R4240:Kmt2d	UTSW	15	98,742,452 (GRCm39)	unclassified	probably benign
R4246:Kmt2d	UTSW	15	98,737,970 (GRCm39)	unclassified	probably benign
R4361:Kmt2d	UTSW	15	98,761,551 (GRCm39)	missense	unknown
R4388:Kmt2d	UTSW	15	98,751,507 (GRCm39)	unclassified	probably benign
R4602:Kmt2d	UTSW	15	98,748,140 (GRCm39)	unclassified	probably benign
R4606:Kmt2d	UTSW	15	98,737,597 (GRCm39)	unclassified	probably benign
R4658:Kmt2d	UTSW	15	98,750,410 (GRCm39)	unclassified	probably benign
R4840:Kmt2d	UTSW	15	98,759,775 (GRCm39)	missense	unknown
R4895:Kmt2d	UTSW	15	98,742,368 (GRCm39)	unclassified	probably benign
R4906:Kmt2d	UTSW	15	98,747,420 (GRCm39)	unclassified	probably benign
R4976:Kmt2d	UTSW	15	98,745,075 (GRCm39)	utr 3 prime	probably benign
R5093:Kmt2d	UTSW	15	98,754,043 (GRCm39)	missense	probably damaging	1.00
R5119:Kmt2d	UTSW	15	98,745,075 (GRCm39)	utr 3 prime	probably benign
R5160:Kmt2d	UTSW	15	98,738,105 (GRCm39)	unclassified	probably benign
R5260:Kmt2d	UTSW	15	98,740,741 (GRCm39)	unclassified	probably benign
R5274:Kmt2d	UTSW	15	98,752,111 (GRCm39)	unclassified	probably benign
R5450:Kmt2d	UTSW	15	98,752,967 (GRCm39)	missense	probably damaging	1.00
R5461:Kmt2d	UTSW	15	98,749,990 (GRCm39)	unclassified	probably benign
R5462:Kmt2d	UTSW	15	98,749,990 (GRCm39)	unclassified	probably benign
R5463:Kmt2d	UTSW	15	98,749,990 (GRCm39)	unclassified	probably benign
R5465:Kmt2d	UTSW	15	98,749,990 (GRCm39)	unclassified	probably benign
R5467:Kmt2d	UTSW	15	98,749,990 (GRCm39)	unclassified	probably benign
R5481:Kmt2d	UTSW	15	98,759,886 (GRCm39)	missense	unknown
R5509:Kmt2d	UTSW	15	98,737,557 (GRCm39)	unclassified	probably benign
R5534:Kmt2d	UTSW	15	98,735,238 (GRCm39)	unclassified	probably benign
R5536:Kmt2d	UTSW	15	98,749,990 (GRCm39)	unclassified	probably benign
R5537:Kmt2d	UTSW	15	98,749,990 (GRCm39)	unclassified	probably benign
R5538:Kmt2d	UTSW	15	98,749,990 (GRCm39)	unclassified	probably benign
R5546:Kmt2d	UTSW	15	98,750,949 (GRCm39)	unclassified	probably benign
R5595:Kmt2d	UTSW	15	98,747,905 (GRCm39)	unclassified	probably benign
R5645:Kmt2d	UTSW	15	98,742,278 (GRCm39)	unclassified	probably benign
R5679:Kmt2d	UTSW	15	98,752,153 (GRCm39)	unclassified	probably benign
R5710:Kmt2d	UTSW	15	98,751,987 (GRCm39)	unclassified	probably benign
R5755:Kmt2d	UTSW	15	98,761,527 (GRCm39)	missense	unknown
R5817:Kmt2d	UTSW	15	98,760,244 (GRCm39)	missense	unknown
R5841:Kmt2d	UTSW	15	98,749,990 (GRCm39)	unclassified	probably benign
R5842:Kmt2d	UTSW	15	98,749,990 (GRCm39)	unclassified	probably benign
R5843:Kmt2d	UTSW	15	98,749,990 (GRCm39)	unclassified	probably benign
R5844:Kmt2d	UTSW	15	98,749,990 (GRCm39)	unclassified	probably benign
R5845:Kmt2d	UTSW	15	98,749,990 (GRCm39)	unclassified	probably benign
R6122:Kmt2d	UTSW	15	98,758,573 (GRCm39)	unclassified	probably benign
R6612:Kmt2d	UTSW	15	98,743,739 (GRCm39)	unclassified	probably benign
R6718:Kmt2d	UTSW	15	98,747,467 (GRCm39)	unclassified	probably benign
R6718:Kmt2d	UTSW	15	98,748,420 (GRCm39)	unclassified	probably benign
R6822:Kmt2d	UTSW	15	98,747,340 (GRCm39)	unclassified	probably benign
R6866:Kmt2d	UTSW	15	98,755,274 (GRCm39)	unclassified	probably benign
R6950:Kmt2d	UTSW	15	98,737,901 (GRCm39)	unclassified	probably benign
R7089:Kmt2d	UTSW	15	98,748,153 (GRCm39)	missense	unknown
R7120:Kmt2d	UTSW	15	98,758,946 (GRCm39)	missense	unknown
R7131:Kmt2d	UTSW	15	98,747,497 (GRCm39)	unclassified	probably benign
R7177:Kmt2d	UTSW	15	98,748,267 (GRCm39)	missense	unknown
R7194:Kmt2d	UTSW	15	98,741,714 (GRCm39)	missense	unknown
R7252:Kmt2d	UTSW	15	98,742,147 (GRCm39)	missense	unknown
R7282:Kmt2d	UTSW	15	98,751,985 (GRCm39)	missense	unknown
R7307:Kmt2d	UTSW	15	98,747,299 (GRCm39)	missense	unknown
R7313:Kmt2d	UTSW	15	98,754,504 (GRCm39)	missense	unknown
R7394:Kmt2d	UTSW	15	98,754,265 (GRCm39)	missense	unknown
R7404:Kmt2d	UTSW	15	98,743,376 (GRCm39)	missense	unknown
R7409:Kmt2d	UTSW	15	98,753,235 (GRCm39)	missense	probably damaging	1.00
R7414:Kmt2d	UTSW	15	98,737,737 (GRCm39)	missense	unknown
R7534:Kmt2d	UTSW	15	98,749,899 (GRCm39)	missense	unknown
R7575:Kmt2d	UTSW	15	98,747,492 (GRCm39)	unclassified	probably benign
R7650:Kmt2d	UTSW	15	98,748,751 (GRCm39)	missense	unknown
R7687:Kmt2d	UTSW	15	98,760,001 (GRCm39)	missense	unknown
R7699:Kmt2d	UTSW	15	98,741,600 (GRCm39)	missense	unknown
R7700:Kmt2d	UTSW	15	98,741,600 (GRCm39)	missense	unknown
R7765:Kmt2d	UTSW	15	98,750,215 (GRCm39)	missense	unknown
R7797:Kmt2d	UTSW	15	98,762,287 (GRCm39)	missense	probably benign	0.24
R7803:Kmt2d	UTSW	15	98,760,804 (GRCm39)	missense	unknown
R7952:Kmt2d	UTSW	15	98,748,649 (GRCm39)	missense	unknown
R8054:Kmt2d	UTSW	15	98,741,806 (GRCm39)	missense	unknown
R8084:Kmt2d	UTSW	15	98,739,945 (GRCm39)	missense	unknown
R8089:Kmt2d	UTSW	15	98,740,750 (GRCm39)	missense	unknown
R8133:Kmt2d	UTSW	15	98,762,823 (GRCm39)	missense	probably damaging	1.00
R8138:Kmt2d	UTSW	15	98,741,534 (GRCm39)	missense	unknown
R8343:Kmt2d	UTSW	15	98,750,478 (GRCm39)	missense	unknown
R8681:Kmt2d	UTSW	15	98,743,948 (GRCm39)	missense	unknown
R8694:Kmt2d	UTSW	15	98,742,615 (GRCm39)	missense	unknown
R8837:Kmt2d	UTSW	15	98,762,048 (GRCm39)	missense	unknown
R8855:Kmt2d	UTSW	15	98,754,237 (GRCm39)	missense	unknown
R8934:Kmt2d	UTSW	15	98,759,767 (GRCm39)	missense	unknown
R9100:Kmt2d	UTSW	15	98,747,832 (GRCm39)	missense	unknown
R9158:Kmt2d	UTSW	15	98,741,020 (GRCm39)	missense	unknown
R9190:Kmt2d	UTSW	15	98,749,896 (GRCm39)	missense	unknown
R9222:Kmt2d	UTSW	15	98,747,324 (GRCm39)	missense	unknown
R9263:Kmt2d	UTSW	15	98,747,499 (GRCm39)	frame shift	probably null
R9336:Kmt2d	UTSW	15	98,743,697 (GRCm39)	missense	unknown
R9397:Kmt2d	UTSW	15	98,747,994 (GRCm39)	missense	unknown
R9415:Kmt2d	UTSW	15	98,737,586 (GRCm39)	missense	unknown
R9482:Kmt2d	UTSW	15	98,763,046 (GRCm39)	missense	probably damaging	1.00
R9529:Kmt2d	UTSW	15	98,737,649 (GRCm39)	missense	unknown
R9610:Kmt2d	UTSW	15	98,743,057 (GRCm39)	unclassified	probably benign
R9611:Kmt2d	UTSW	15	98,743,057 (GRCm39)	unclassified	probably benign
R9611:Kmt2d	UTSW	15	98,743,054 (GRCm39)	unclassified	probably benign
R9612:Kmt2d	UTSW	15	98,743,057 (GRCm39)	unclassified	probably benign
R9613:Kmt2d	UTSW	15	98,743,057 (GRCm39)	unclassified	probably benign
R9644:Kmt2d	UTSW	15	98,743,385 (GRCm39)	missense	unknown
R9716:Kmt2d	UTSW	15	98,741,283 (GRCm39)	missense	unknown
R9763:Kmt2d	UTSW	15	98,743,057 (GRCm39)	unclassified	probably benign
R9782:Kmt2d	UTSW	15	98,764,597 (GRCm39)	missense	probably damaging	1.00
X0018:Kmt2d	UTSW	15	98,750,803 (GRCm39)	unclassified	probably benign
X0024:Kmt2d	UTSW	15	98,750,934 (GRCm39)	unclassified	probably benign
X0062:Kmt2d	UTSW	15	98,747,700 (GRCm39)	unclassified	probably benign
Z1187:Kmt2d	UTSW	15	98,749,625 (GRCm39)	missense	unknown
Z1188:Kmt2d	UTSW	15	98,749,625 (GRCm39)	missense	unknown
Z1189:Kmt2d	UTSW	15	98,749,625 (GRCm39)	missense	unknown
Z1190:Kmt2d	UTSW	15	98,749,625 (GRCm39)	missense	unknown
Z1192:Kmt2d	UTSW	15	98,749,625 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCCATCAGCTGAATGAACAGAC -3'
(R):5'- AGTCACTACAACAGAGGCTTG -3'

Sequencing Primer
(F):5'- CAGGAGATGGCATTTAAATGTTTGTC -3'
(R):5'- GTCACTACAACAGAGGCTTGTAGAC -3'

Posted On

2014-06-23