Mutagenetix > Incidental Mutation

Incidental Mutation 'R0276:Kmt2d'

35417

Institutional Source

Beutler Lab

Gene Symbol

Kmt2d

Ensembl Gene

ENSMUSG00000048154

Gene Name

lysine (K)-specific methyltransferase 2D

Synonyms

Mll4, Mll2, C430014K11Rik

MMRRC Submission

038498-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0276 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

98729550-98769085 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 98748192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000023741
AA Change: Y3044C

SMART Domains

Protein: ENSMUSP00000023741
Gene: ENSMUSG00000048154
AA Change: Y3044C

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: Y3044C

SMART Domains

Protein: ENSMUSP00000135941
Gene: ENSMUSG00000048154
AA Change: Y3044C

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

Meta Mutation Damage Score

0.2168

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.2%
20x: 93.8%

Validation Efficiency

98% (101/103)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,865,772 (GRCm39)	N109S	possibly damaging	Het
Adcy10	T	A	1: 165,400,160 (GRCm39)	M1523K	possibly damaging	Het
Agtpbp1	C	T	13: 59,609,845 (GRCm39)	S1095N	possibly damaging	Het
Ang2	C	T	14: 51,432,975 (GRCm39)	V136I	probably damaging	Het
Arhgap10	A	T	8: 78,140,210 (GRCm39)	M250K	probably benign	Het
Arhgap33	A	T	7: 30,222,669 (GRCm39)	W1088R	probably benign	Het
Arhgef15	T	C	11: 68,844,298 (GRCm39)		probably benign	Het
Aspm	T	C	1: 139,406,209 (GRCm39)	S1699P	possibly damaging	Het
Atp12a	C	A	14: 56,625,151 (GRCm39)	D1014E	probably damaging	Het
Atp1a4	T	A	1: 172,085,468 (GRCm39)	K45M	probably damaging	Het
Atp8a1	A	T	5: 67,944,016 (GRCm39)		probably benign	Het
Baiap3	A	C	17: 25,462,661 (GRCm39)	F1099C	probably damaging	Het
Bcas3	T	A	11: 85,361,663 (GRCm39)		probably null	Het
Bms1	G	A	6: 118,385,095 (GRCm39)	T371M	possibly damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Capn3	T	C	2: 120,318,546 (GRCm39)		probably benign	Het
Ccdc180	A	G	4: 45,923,534 (GRCm39)	D1105G	probably damaging	Het
Ccdc33	G	T	9: 57,965,675 (GRCm39)	P364Q	probably damaging	Het
Clstn3	A	G	6: 124,408,699 (GRCm39)		probably benign	Het
Cntrl	A	T	2: 35,041,744 (GRCm39)	Y619F	possibly damaging	Het
Col12a1	A	T	9: 79,538,023 (GRCm39)	Y2514*	probably null	Het
Cpt1b	T	C	15: 89,304,162 (GRCm39)	H503R	probably benign	Het
Crb1	T	A	1: 139,251,073 (GRCm39)	T293S	possibly damaging	Het
D130043K22Rik	C	T	13: 25,042,028 (GRCm39)	T319I	possibly damaging	Het
Dnaaf10	T	C	11: 17,179,821 (GRCm39)	I274T	probably benign	Het
Dzip1l	G	A	9: 99,543,051 (GRCm39)	R502Q	probably benign	Het
Efcab5	A	G	11: 77,020,702 (GRCm39)	M673T	probably damaging	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	Het
F2rl3	A	G	8: 73,489,426 (GRCm39)	T218A	probably benign	Het
Fam135a	C	T	1: 24,107,045 (GRCm39)	R31H	probably damaging	Het
Fcer2a	A	T	8: 3,739,811 (GRCm39)	N53K	possibly damaging	Het
Golgb1	A	C	16: 36,734,238 (GRCm39)	K1162Q	probably damaging	Het
Gpr137b	A	T	13: 13,542,160 (GRCm39)		probably benign	Het
Haspin	A	T	11: 73,027,313 (GRCm39)	L592Q	probably damaging	Het
Helq	A	G	5: 100,938,013 (GRCm39)	F478L	probably damaging	Het
Iho1	A	T	9: 108,305,639 (GRCm39)	M11K	possibly damaging	Het
Il17rb	T	A	14: 29,726,337 (GRCm39)	T84S	probably damaging	Het
Itga4	T	C	2: 79,151,837 (GRCm39)	L880P	probably damaging	Het
Itih5	A	G	2: 10,190,375 (GRCm39)	I61V	possibly damaging	Het
Ivl	G	A	3: 92,478,821 (GRCm39)	L415F	unknown	Het
Kif2a	A	G	13: 107,113,158 (GRCm39)		probably benign	Het
Lars2	A	G	9: 123,267,186 (GRCm39)		probably benign	Het
Lilrb4a	T	C	10: 51,367,677 (GRCm39)	V73A	probably benign	Het
Lratd2	G	T	15: 60,695,523 (GRCm39)	Y74*	probably null	Het
Lrrc8a	A	G	2: 30,146,800 (GRCm39)	D538G	possibly damaging	Het
Lrrk1	G	A	7: 65,946,011 (GRCm39)		probably benign	Het
Mc2r	A	T	18: 68,541,203 (GRCm39)	I30K	possibly damaging	Het
Mybbp1a	C	A	11: 72,340,933 (GRCm39)		probably null	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Ncam2	A	G	16: 81,314,517 (GRCm39)		probably benign	Het
Nlk	T	C	11: 78,462,301 (GRCm39)	I509V	probably benign	Het
Nlrp2	A	T	7: 5,331,108 (GRCm39)	N429K	probably benign	Het
Nlrp9b	A	G	7: 19,762,423 (GRCm39)	T247A	probably benign	Het
Noxo1	A	T	17: 24,919,136 (GRCm39)		probably null	Het
Or1n1b	A	T	2: 36,780,035 (GRCm39)	M275K	probably benign	Het
Or2ag2b	A	T	7: 106,417,904 (GRCm39)	I205L	probably benign	Het
Or3a10	A	G	11: 73,935,944 (GRCm39)	I52T	probably damaging	Het
Or4c107	T	A	2: 88,789,099 (GRCm39)	C96*	probably null	Het
Or4m1	C	A	14: 50,557,636 (GRCm39)	A219S	probably benign	Het
Oxr1	T	C	15: 41,683,458 (GRCm39)	S294P	probably damaging	Het
Pfpl	A	G	19: 12,406,601 (GRCm39)	Y284C	probably damaging	Het
Pi16	A	T	17: 29,545,917 (GRCm39)	T232S	probably benign	Het
Plcxd2	A	T	16: 45,830,070 (GRCm39)	N50K	probably benign	Het
Plekhn1	T	A	4: 156,312,703 (GRCm39)	N52Y	probably damaging	Het
Prl2c5	T	C	13: 13,357,634 (GRCm39)		probably benign	Het
Prrc2b	G	A	2: 32,109,666 (GRCm39)	V1080I	probably damaging	Het
Psg28	A	T	7: 18,164,321 (GRCm39)	N130K	probably benign	Het
Psme4	C	A	11: 30,761,980 (GRCm39)	T440K	probably damaging	Het
Ptcd2	T	C	13: 99,458,104 (GRCm39)	K296E	probably benign	Het
Ptprq	T	C	10: 107,378,596 (GRCm39)		probably null	Het
Rab5b	A	C	10: 128,522,615 (GRCm39)		probably null	Het
Rft1	T	A	14: 30,412,540 (GRCm39)	S534T	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rsu1	A	T	2: 13,174,946 (GRCm39)		probably benign	Het
Senp6	A	G	9: 80,044,029 (GRCm39)	M887V	probably benign	Het
Sgcz	T	A	8: 38,420,073 (GRCm39)	M60L	probably benign	Het
Siglec1	G	A	2: 130,925,861 (GRCm39)	Q282*	probably null	Het
Sipa1l2	T	C	8: 126,148,679 (GRCm39)	T1655A	probably damaging	Het
Slc28a2b	T	A	2: 122,352,409 (GRCm39)	S389T	probably damaging	Het
Slc43a3	G	A	2: 84,768,007 (GRCm39)		probably benign	Het
Snx29	T	C	16: 11,556,237 (GRCm39)	V756A	probably benign	Het
Spta1	T	A	1: 174,045,460 (GRCm39)	H1539Q	probably damaging	Het
Stk3	A	C	15: 35,099,615 (GRCm39)	S104A	probably damaging	Het
Stk38	C	A	17: 29,211,390 (GRCm39)		probably null	Het
Stx6	T	C	1: 155,049,909 (GRCm39)		probably benign	Het
Thbs4	G	A	13: 92,912,040 (GRCm39)	T230I	probably benign	Het
Thrsp	A	G	7: 97,066,709 (GRCm39)	M1T	probably null	Het
Tmem63b	A	T	17: 45,986,299 (GRCm39)		probably benign	Het
Top2a	A	G	11: 98,900,733 (GRCm39)		probably benign	Het
Tpd52l2	T	C	2: 181,143,852 (GRCm39)		probably null	Het
Trak1	A	G	9: 121,283,404 (GRCm39)	E390G	probably damaging	Het
Trappc3	T	A	4: 126,167,745 (GRCm39)	D101E	possibly damaging	Het
Trhr	A	G	15: 44,060,482 (GRCm39)	M1V	probably null	Het
Triobp	T	A	15: 78,857,876 (GRCm39)	I1159K	probably benign	Het
Unc45a	A	G	7: 79,976,045 (GRCm39)		probably benign	Het
Usb1	A	G	8: 96,060,085 (GRCm39)	D12G	probably damaging	Het
Ushbp1	C	T	8: 71,847,293 (GRCm39)	C113Y	possibly damaging	Het
Vim	A	G	2: 13,579,670 (GRCm39)	K143R	probably benign	Het
Vmn2r75	T	C	7: 85,797,515 (GRCm39)	K766R	probably benign	Het
Xpo5	T	G	17: 46,552,433 (GRCm39)	C1089G	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
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
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'- AGCACAGATGTTAAGCGAGGCTC -3'
(R):5'- AACTCCATCGACTGGCTCCTGAAG -3'

Sequencing Primer
(F):5'- TTAAGCGAGGCTCAGAGTTATC -3'
(R):5'- GTCAAACACTGAACTTAGTCGTC -3'

Posted On

2013-05-09