Mutagenetix > Incidental Mutation

Incidental Mutation 'R2120:Kmt2d'

231412

Institutional Source

Beutler Lab

Gene Symbol

Kmt2d

Ensembl Gene

ENSMUSG00000048154

Gene Name

lysine (K)-specific methyltransferase 2D

Synonyms

Mll4, Mll2, C430014K11Rik

MMRRC Submission

040124-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2120 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98729550-98769085 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 98737410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000023741
AA Change: F5229L

SMART Domains

Protein: ENSMUSP00000023741
Gene: ENSMUSG00000048154
AA Change: F5229L

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: F5229L

SMART Domains

Protein: ENSMUSP00000135941
Gene: ENSMUSG00000048154
AA Change: F5229L

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: ENSMUST00000191973

SMART Domains

Protein: ENSMUSP00000142312
Gene: ENSMUSG00000048154

Domain	Start	End	E-Value	Type
SET	78	200	5.69e-36	SMART
PostSET	202	218	3.58e-5	SMART

Meta Mutation Damage Score

0.1077

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (86/86)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,259,013 (GRCm39)		probably benign	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Actrt2	C	T	4: 154,751,551 (GRCm39)	R195Q	probably benign	Het
Adamts12	C	T	15: 11,310,665 (GRCm39)	T974I	probably damaging	Het
Ankrd65	A	G	4: 155,876,530 (GRCm39)	T239A	probably benign	Het
Ano7	G	T	1: 93,329,855 (GRCm39)		probably benign	Het
Apc	A	T	18: 34,409,654 (GRCm39)	E198V	probably damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Atp9a	A	T	2: 168,495,457 (GRCm39)	V583E	probably damaging	Het
Bicral	C	T	17: 47,135,741 (GRCm39)	A490T	probably benign	Het
C1rl	C	T	6: 124,485,672 (GRCm39)	P348S	probably damaging	Het
Cog1	T	C	11: 113,540,424 (GRCm39)	L13P	probably damaging	Het
Cx3cr1	T	A	9: 119,880,749 (GRCm39)	T218S	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
E2f4	A	G	8: 106,026,973 (GRCm39)	Y179C	probably damaging	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Endod1	T	C	9: 14,268,949 (GRCm39)	N179D	probably benign	Het
Epc2	C	T	2: 49,437,621 (GRCm39)		probably benign	Het
Ets2	G	T	16: 95,519,977 (GRCm39)	R401L	probably benign	Het
Fgd4	C	T	16: 16,243,692 (GRCm39)	C614Y	probably benign	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Frem3	A	T	8: 81,342,086 (GRCm39)	T1460S	probably benign	Het
H2-M1	T	G	17: 36,980,929 (GRCm39)	T336P	possibly damaging	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Ipo7	G	T	7: 109,648,838 (GRCm39)	D704Y	probably damaging	Het
Jaml	T	A	9: 45,012,362 (GRCm39)	I283N	probably damaging	Het
Jarid2	G	T	13: 45,059,812 (GRCm39)	M681I	probably benign	Het
Kif4-ps	T	C	12: 101,113,956 (GRCm39)	L695P	probably damaging	Het
Krt25	T	C	11: 99,212,023 (GRCm39)	T205A	probably benign	Het
Lif	T	C	11: 4,219,051 (GRCm39)	V110A	possibly damaging	Het
Ltbp1	T	A	17: 75,617,154 (GRCm39)	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Man2b1	A	G	8: 85,819,653 (GRCm39)		probably benign	Het
Med16	A	T	10: 79,738,916 (GRCm39)	M290K	possibly damaging	Het
Mov10l1	C	A	15: 88,891,830 (GRCm39)	Q562K	probably benign	Het
Msantd2	C	T	9: 37,434,227 (GRCm39)	R357W	probably damaging	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Mtmr6	T	C	14: 60,534,108 (GRCm39)	F449L	probably damaging	Het
Myt1l	A	T	12: 29,833,618 (GRCm39)		probably null	Het
Neb	A	G	2: 52,154,076 (GRCm39)	F2345S	probably damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Or11g27	T	C	14: 50,771,403 (GRCm39)	I178T	probably damaging	Het
Or4k36	A	G	2: 111,145,844 (GRCm39)	T7A	probably benign	Het
Or6d13	A	T	6: 116,517,416 (GRCm39)	M1L	probably null	Het
Or8k22	G	A	2: 86,163,689 (GRCm39)	R4C	probably benign	Het
Patj	T	A	4: 98,344,462 (GRCm39)	D591E	probably benign	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Pitpnm2	G	A	5: 124,265,332 (GRCm39)	P757L	probably damaging	Het
Plcd4	A	G	1: 74,603,584 (GRCm39)	T662A	probably benign	Het
Podn	C	T	4: 107,880,558 (GRCm39)	A31T	probably damaging	Het
Prss37	G	A	6: 40,492,294 (GRCm39)	R186*	probably null	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Pum1	C	A	4: 130,396,581 (GRCm39)	T112K	possibly damaging	Het
Rab3gap2	A	T	1: 184,993,564 (GRCm39)	D782V	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Reln	G	A	5: 22,174,083 (GRCm39)	H2007Y	probably damaging	Het
Rhbdl2	T	A	4: 123,718,712 (GRCm39)	I222K	probably damaging	Het
Rimbp2	A	G	5: 128,865,582 (GRCm39)	S582P	probably damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Sars1	T	C	3: 108,341,472 (GRCm39)	I114V	probably benign	Het
Scamp5	C	A	9: 57,354,508 (GRCm39)	V49F	possibly damaging	Het
Sec14l1	C	T	11: 117,039,358 (GRCm39)		probably benign	Het
Serpinb8	A	G	1: 107,533,617 (GRCm39)	E224G	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Slco6c1	C	T	1: 96,993,808 (GRCm39)	R645H	possibly damaging	Het
Srgn	T	A	10: 62,343,413 (GRCm39)		probably benign	Het
Stk40	C	T	4: 126,022,640 (GRCm39)	T138I	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tada3	T	C	6: 113,347,976 (GRCm39)	I263V	possibly damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tas2r115	T	A	6: 132,714,470 (GRCm39)	R160S	possibly damaging	Het
Trak1	T	A	9: 121,302,063 (GRCm39)	*940R	probably null	Het
Trp53bp2	A	G	1: 182,269,204 (GRCm39)	M223V	probably benign	Het
Ttc21b	C	T	2: 66,057,098 (GRCm39)	V625I	probably benign	Het
Txnrd1	T	A	10: 82,723,067 (GRCm39)	C421S	possibly damaging	Het
Unc45a	T	C	7: 79,989,846 (GRCm39)	T8A	probably benign	Het
Usp6nl	T	A	2: 6,445,748 (GRCm39)	V552E	probably damaging	Het
Vmn2r115	T	G	17: 23,578,297 (GRCm39)	L590R	probably damaging	Het
Vmn2r88	A	T	14: 51,650,665 (GRCm39)	H126L	probably benign	Het
Vps13c	A	G	9: 67,826,616 (GRCm39)	D1419G	possibly damaging	Het
Vwa3a	A	G	7: 120,391,641 (GRCm39)	T776A	probably benign	Het
Zfp580	T	C	7: 5,056,008 (GRCm39)	Y123H	probably damaging	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
R1808:Kmt2d	UTSW	15	98,764,567 (GRCm39)	missense	probably damaging	1.00
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
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'- ACAAACTCAGGCCGTCCATTG -3'
(R):5'- TGCGTTGCCCCAATGTCTAC -3'

Sequencing Primer
(F):5'- GTCCATTGTTCTCACTGATGGAAC -3'
(R):5'- TGCCATCCGCGCTAAGTG -3'

Posted On

2014-09-18