Mutagenetix > Incidental Mutation

Incidental Mutation 'R1510:Kmt2d'

167887

Institutional Source

Beutler Lab

Gene Symbol

Kmt2d

Ensembl Gene

ENSMUSG00000048154

Gene Name

lysine (K)-specific methyltransferase 2D

Synonyms

Mll2, C430014K11Rik, Mll4

MMRRC Submission

039557-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98831669-98871204 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 98856377 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139020 (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: Q1615L

SMART Domains

Protein: ENSMUSP00000023741
Gene: ENSMUSG00000048154
AA Change: Q1615L

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: Q1615L

SMART Domains

Protein: ENSMUSP00000135941
Gene: ENSMUSG00000048154
AA Change: Q1615L

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

Meta Mutation Damage Score

0.0770

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	T	12: 55,304,212 (GRCm38)	Q102L	probably benign	Het
1700001L19Rik	T	A	13: 68,597,477 (GRCm38)	M1K	probably null	Het
Abcd2	A	G	15: 91,188,978 (GRCm38)	L326S	probably damaging	Het
Adam18	T	A	8: 24,625,831 (GRCm38)	T616S	probably benign	Het
Adam22	T	C	5: 8,152,408 (GRCm38)	K215E	probably benign	Het
Ahi1	T	G	10: 20,959,800 (GRCm38)	S11A	probably benign	Het
Asb18	T	C	1: 89,996,254 (GRCm38)	M96V	possibly damaging	Het
Baz2b	T	C	2: 59,922,209 (GRCm38)	D1149G	probably damaging	Het
C1qtnf3	A	G	15: 10,975,636 (GRCm38)	E176G	probably benign	Het
Cd151	T	A	7: 141,470,367 (GRCm38)	S172T	probably benign	Het
Cdh2	G	T	18: 16,648,594 (GRCm38)	L90I	probably benign	Het
Cdkl3	T	C	11: 52,033,514 (GRCm38)	V55A	possibly damaging	Het
Chst8	T	A	7: 34,675,268 (GRCm38)	H382L	probably benign	Het
Cyb5r4	T	C	9: 87,066,643 (GRCm38)		probably benign	Het
Cyp2j13	T	C	4: 96,061,972 (GRCm38)	D264G	possibly damaging	Het
Daam1	A	G	12: 71,977,726 (GRCm38)	M814V	probably damaging	Het
Ddx19b	A	G	8: 111,015,653 (GRCm38)	I150T	probably damaging	Het
Dync1li1	T	G	9: 114,689,210 (GRCm38)	S50A	possibly damaging	Het
Fat3	A	T	9: 15,960,055 (GRCm38)	L3680Q	probably damaging	Het
Fermt1	C	T	2: 132,925,022 (GRCm38)	E342K	probably benign	Het
Gm21286	T	G	4: 60,838,932 (GRCm38)		noncoding transcript	Het
Il6	T	C	5: 30,018,062 (GRCm38)	Y126H	probably damaging	Het
Inhba	G	T	13: 16,027,022 (GRCm38)	V390L	probably damaging	Het
Ino80	C	T	2: 119,450,049 (GRCm38)	R278H	probably damaging	Het
Jade3	T	G	X: 20,517,818 (GRCm38)	N799K	probably benign	Het
Kcnn1	G	A	8: 70,864,070 (GRCm38)		probably benign	Het
Klhl6	T	C	16: 19,947,098 (GRCm38)	T585A	probably damaging	Het
Krt17	C	T	11: 100,257,539 (GRCm38)	E359K	possibly damaging	Het
Lce1b	T	G	3: 92,655,976 (GRCm38)	R83S	unknown	Het
Lck	T	C	4: 129,555,668 (GRCm38)	S290G	possibly damaging	Het
Ltbp3	T	C	19: 5,748,887 (GRCm38)	S544P	probably benign	Het
Lypd6b	T	A	2: 49,934,819 (GRCm38)	S4R	probably damaging	Het
Macf1	T	C	4: 123,434,762 (GRCm38)	D4724G	probably null	Het
Mcoln2	A	G	3: 146,176,610 (GRCm38)	T255A	probably benign	Het
Mcph1	T	A	8: 18,632,687 (GRCm38)		probably null	Het
Mki67	C	A	7: 135,696,171 (GRCm38)	R2378L	probably benign	Het
Mxd1	A	G	6: 86,653,155 (GRCm38)	V27A	possibly damaging	Het
Myo5a	T	C	9: 75,171,551 (GRCm38)	Y864H	probably benign	Het
Ndel1	A	T	11: 68,822,656 (GRCm38)	N318K	possibly damaging	Het
Oasl1	A	G	5: 114,928,108 (GRCm38)	Q95R	probably benign	Het
Olfr1052	T	C	2: 86,298,371 (GRCm38)	L185P	probably damaging	Het
Olfr1415	A	T	1: 92,491,617 (GRCm38)	I46N	probably damaging	Het
Olfr198	A	T	16: 59,202,183 (GRCm38)	M81K	probably damaging	Het
Olfr480	T	C	7: 108,066,528 (GRCm38)	Y60C	probably damaging	Het
Parp10	T	A	15: 76,241,417 (GRCm38)	Q487L	probably damaging	Het
Pcdh10	C	T	3: 45,379,403 (GRCm38)	R51C	probably damaging	Het
Pdpr	A	T	8: 111,124,475 (GRCm38)		probably benign	Het
Pfpl	A	T	19: 12,429,696 (GRCm38)	D437V	probably benign	Het
Pik3c2a	G	A	7: 116,388,045 (GRCm38)	T547I	probably benign	Het
Pkdrej	A	C	15: 85,816,762 (GRCm38)	S1658A	possibly damaging	Het
Pkn3	T	C	2: 30,079,764 (GRCm38)		probably null	Het
Plekhh2	A	G	17: 84,559,576 (GRCm38)		probably null	Het
Plxdc1	A	T	11: 97,932,324 (GRCm38)	C357S	probably damaging	Het
Pnp	A	G	14: 50,950,585 (GRCm38)	T132A	possibly damaging	Het
Rcan2	A	G	17: 43,836,424 (GRCm38)	D51G	probably damaging	Het
Rcn1	T	C	2: 105,389,089 (GRCm38)	N253S	probably damaging	Het
Rreb1	T	A	13: 37,931,884 (GRCm38)	I1073N	probably benign	Het
Scaf4	G	T	16: 90,245,394 (GRCm38)	D686E	unknown	Het
Sfxn5	A	C	6: 85,236,925 (GRCm38)	M221R	probably damaging	Het
Slc38a1	A	G	15: 96,609,860 (GRCm38)	F104L	probably damaging	Het
Slc8a1	A	T	17: 81,648,118 (GRCm38)	V497D	probably damaging	Het
Spryd3	C	A	15: 102,118,961 (GRCm38)	G290C	probably damaging	Het
Stc2	A	T	11: 31,365,418 (GRCm38)	Y140*	probably null	Het
Stfa2	A	T	16: 36,408,311 (GRCm38)	I8K	possibly damaging	Het
Sult3a2	A	T	10: 33,782,030 (GRCm38)	M29K	probably benign	Het
Tns2	C	T	15: 102,108,934 (GRCm38)	R281C	probably damaging	Het
Triobp	G	A	15: 79,003,767 (GRCm38)	R1908Q	probably damaging	Het
Trpm2	T	A	10: 77,966,994 (GRCm38)	R7*	probably null	Het
Ttn	T	C	2: 76,952,157 (GRCm38)	I912V	probably benign	Het
Tusc2	T	A	9: 107,564,881 (GRCm38)	V93E	probably damaging	Het
Uhrf2	T	A	19: 30,039,061 (GRCm38)		probably benign	Het
Umodl1	G	A	17: 30,959,229 (GRCm38)	V60M	probably damaging	Het
Ush2a	A	T	1: 188,648,304 (GRCm38)	D2270V	probably damaging	Het
Vmn2r80	A	G	10: 79,169,719 (GRCm38)	T397A	possibly damaging	Het
Wbp2	A	G	11: 116,086,882 (GRCm38)	V15A	probably benign	Het
Zfp182	T	A	X: 21,030,207 (GRCm38)	R617W	probably damaging	Het
Zfp82	C	A	7: 30,056,622 (GRCm38)	R345L	probably damaging	Het
Zfp85	T	C	13: 67,754,965 (GRCm38)		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
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	98,849,586 (GRCm38)	unclassified	probably benign
R6718:Kmt2d	UTSW	15	98,850,539 (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
Z1188: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'- TTCCGCTGCCGTACCATGAAAC -3'
(R):5'- CTGACGATCTGCTCAAGGGTGAAG -3'

Sequencing Primer
(F):5'- CCAATGCCTGTGAGAAAGC -3'
(R):5'- AGCCCATAAGAGTTGGGATGTTG -3'

Posted On

2014-04-13