Mutagenetix > Incidental Mutation

Incidental Mutation 'R7131:Kmt2d'

552698

Institutional Source

Beutler Lab

Gene Symbol

Kmt2d

Ensembl Gene

ENSMUSG00000048154

Gene Name

lysine (K)-specific methyltransferase 2D

Synonyms

Mll2, C430014K11Rik, Mll4

MMRRC Submission

045216-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7131 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

98831669-98871204 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

GCTGCTGCT to GCTGCTGCTCCTGCTGCT at 98849616 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023741

SMART Domains

Protein: ENSMUSP00000023741
Gene: ENSMUSG00000048154

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: ENSMUST00000178486

SMART Domains

Protein: ENSMUSP00000135941
Gene: ENSMUSG00000048154

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: ENSMUST00000229651

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,548,956	V435A	possibly damaging	Het
Abca13	A	G	11: 9,291,893	N1252S	probably benign	Het
Abcc3	A	T	11: 94,365,031	F543I	probably damaging	Het
Adam15	T	A	3: 89,346,980	Q170L	possibly damaging	Het
AF366264	A	T	8: 13,836,982	W370R	probably damaging	Het
Aldoc	A	G	11: 78,324,456	I19V	possibly damaging	Het
Atrip	T	C	9: 109,060,420	I711M	probably benign	Het
Brwd1	A	C	16: 96,066,498	L149R	probably damaging	Het
Capn9	A	T	8: 124,576,278	D45V	probably damaging	Het
Card9	G	A	2: 26,358,835	R101C	probably damaging	Het
Casc1	A	T	6: 145,177,406	L578Q	probably null	Het
Ccdc36	A	T	9: 108,417,420	D98E	probably benign	Het
Ccdc87	A	G	19: 4,841,757	E759G	probably damaging	Het
Cep250	T	C	2: 155,965,077	M193T	probably damaging	Het
Cfap54	T	C	10: 92,821,104	K3029E	probably benign	Het
Chrna9	G	A	5: 65,977,141	G445D	possibly damaging	Het
Cluap1	C	T	16: 3,940,775	S367L	probably benign	Het
Col5a1	A	G	2: 27,929,486	D200G	unknown	Het
Crhr2	T	C	6: 55,092,127	N388D		Het
Cyp2b23	A	G	7: 26,681,413	L129P	probably benign	Het
Cyr61	T	C	3: 145,648,781	D125G	probably damaging	Het
Dctd	A	G	8: 48,112,040	S67G	probably benign	Het
Dhtkd1	C	G	2: 5,904,070	V738L	probably benign	Het
Dnah17	C	T	11: 118,079,658	D2173N	probably benign	Het
Dnah7c	G	T	1: 46,681,772	A2819S	probably benign	Het
Dot1l	A	G	10: 80,792,341	H1071R	unknown	Het
Doxl2	T	A	6: 48,976,372	Y410*	probably null	Het
Dync2h1	T	A	9: 7,075,786	D3027V	probably damaging	Het
Efl1	A	G	7: 82,658,064	Y56C	probably damaging	Het
Eif4e1b	A	T	13: 54,784,100	R29W	probably null	Het
Evc2	A	G	5: 37,410,258	R860G	probably damaging	Het
Fbxl12	G	A	9: 20,644,383		probably benign	Het
Fibp	T	A	19: 5,461,491	I129N	probably damaging	Het
Folh1	G	T	7: 86,726,112	H555Q	probably damaging	Het
Gcnt4	A	T	13: 96,946,519	T108S	probably damaging	Het
Gm436	A	G	4: 144,670,067	V365A	probably damaging	Het
H1fnt	T	A	15: 98,256,369	K300*	probably null	Het
Hecw2	A	T	1: 53,865,121	V1156E	probably damaging	Het
Herc3	C	G	6: 58,887,424	A681G	probably damaging	Het
Igkv13-84	T	A	6: 68,939,780	C20*	probably null	Het
Ivd	C	A	2: 118,869,774	T94K	probably damaging	Het
Kank2	C	T	9: 21,794,679	A348T	probably benign	Het
Kcnma1	T	C	14: 23,367,494	Y889C	probably damaging	Het
Kif13b	T	C	14: 64,773,068	V1272A	probably damaging	Het
Kmt5b	T	A	19: 3,815,412	D825E	probably benign	Het
Krt39	C	T	11: 99,520,871	A130T	probably benign	Het
Krtap4-9	C	T	11: 99,785,457	T68I	unknown	Het
Lmbr1l	A	T	15: 98,906,323	V365E	probably benign	Het
Lonp1	C	T	17: 56,617,814	R531Q	probably damaging	Het
Mecom	T	A	3: 29,980,945	H194L	probably damaging	Het
Mlx	C	T	11: 101,089,242	H188Y	probably damaging	Het
Mrps10	T	C	17: 47,375,015	S77P	probably damaging	Het
Mst1	A	G	9: 108,084,931	E716G	probably null	Het
Mttp	C	T	3: 138,116,132	V210I	probably benign	Het
Mug2	T	C	6: 122,075,247	V988A	probably damaging	Het
Ndufb6	A	G	4: 40,279,336	M1T	probably null	Het
Neurog1	A	T	13: 56,251,750	N61K	probably benign	Het
Nlrp14	A	G	7: 107,184,814	D581G	possibly damaging	Het
Nlrp4a	C	A	7: 26,449,833	N288K	probably benign	Het
Notch3	T	A	17: 32,144,217	H1264L	probably benign	Het
Olfr384	A	T	11: 73,602,736	D52V	possibly damaging	Het
Olfr394	A	T	11: 73,887,954	C139*	probably null	Het
Olfr402	A	G	11: 74,155,780	M209V	probably benign	Het
Patl2	A	T	2: 122,121,782		probably null	Het
Pfkfb4	A	G	9: 109,007,302	T133A	probably benign	Het
Pla2g4f	T	C	2: 120,304,554	E471G	probably null	Het
Postn	T	C	3: 54,362,635	V45A	probably damaging	Het
Ppan	T	A	9: 20,891,154	V257E	possibly damaging	Het
Ptcra	C	G	17: 46,763,596	A7P	probably damaging	Het
Ptprd	C	T	4: 76,066,340	R523H	probably damaging	Het
Pycrl	A	T	15: 75,918,695	I105N	possibly damaging	Het
Rfx1	C	A	8: 84,095,079	Q815K	probably damaging	Het
Rfx3	T	A	19: 27,768,628	K668*	probably null	Het
Ryr2	A	T	13: 11,640,327	D3661E	possibly damaging	Het
Ryr2	A	G	13: 11,668,811		probably null	Het
Sec23ip	T	A	7: 128,779,640	S974T	probably damaging	Het
Setbp1	A	G	18: 79,086,960	F19S	probably benign	Het
Setd1a	AAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAG	7: 127,796,418		probably benign	Het
Sh3pxd2b	A	G	11: 32,422,072	K413R	probably damaging	Het
Slc39a12	T	C	2: 14,449,803	V544A	probably damaging	Het
Slc6a7	T	C	18: 61,002,202	Y418C	probably damaging	Het
Snx19	T	G	9: 30,427,893	I109S	probably damaging	Het
Spg20	T	C	3: 55,121,799		probably null	Het
Sptbn2	A	T	19: 4,749,460	Q2097L	probably null	Het
Syne1	T	C	10: 5,228,221	K4751R	probably damaging	Het
Tigit	C	A	16: 43,662,252	G40C	probably damaging	Het
Tmem181a	T	A	17: 6,297,972	I264K	probably damaging	Het
Tom1	T	A	8: 75,057,249	I287N	possibly damaging	Het
Top2a	G	A	11: 99,004,182	P864L	possibly damaging	Het
Trmt44	A	T	5: 35,571,066	V290E	probably damaging	Het
Try4	T	C	6: 41,304,403	I93T	probably benign	Het
Usp24	T	A	4: 106,382,303	H1147Q	possibly damaging	Het
Uspl1	A	T	5: 149,193,935	R109S	probably benign	Het
Vav3	T	A	3: 109,664,346	F755I	probably damaging	Het
Vezt	A	T	10: 93,970,547	Y667*	probably null	Het
Vmn1r231	T	A	17: 20,889,878	L258F	possibly damaging	Het
Zfp207	T	C	11: 80,395,528	M489T	unknown	Het
Zfp462	A	G	4: 55,009,380	T449A	probably benign	Het
Zfp956	C	A	6: 47,955,847	Q19K	probably benign	Het
Zkscan8	A	T	13: 21,525,273	W152R	probably damaging	Het

Other mutations in Kmt2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Kmt2d	APN	15	98862333	missense	unknown
IGL00927:Kmt2d	APN	15	98845009	unclassified	probably benign
IGL01123:Kmt2d	APN	15	98837148	missense	unknown
IGL01288:Kmt2d	APN	15	98865044	missense	probably damaging	1.00
IGL01538:Kmt2d	APN	15	98860657	unclassified	probably benign
IGL01575:Kmt2d	APN	15	98846855	utr 3 prime	probably benign
IGL01584:Kmt2d	APN	15	98856369	unclassified	probably benign
IGL01750:Kmt2d	APN	15	98853168	unclassified	probably benign
IGL02163:Kmt2d	APN	15	98835228	unclassified	probably benign
IGL02209:Kmt2d	APN	15	98854567	unclassified	probably benign
IGL02253:Kmt2d	APN	15	98858175	unclassified	probably benign
IGL02271:Kmt2d	APN	15	98866428	missense	possibly damaging	0.89
IGL02291:Kmt2d	APN	15	98865492	splice site	probably benign
IGL02448:Kmt2d	APN	15	98844110	unclassified	probably benign
IGL02472:Kmt2d	APN	15	98850077	missense	probably benign	0.23
IGL02496:Kmt2d	APN	15	98857558	unclassified	probably benign
IGL02527:Kmt2d	APN	15	98841747	unclassified	probably benign
IGL02576:Kmt2d	APN	15	98864120	missense	unknown
IGL02597:Kmt2d	APN	15	98863831	missense	unknown
IGL02609:Kmt2d	APN	15	98851793	unclassified	probably benign
IGL03085:Kmt2d	APN	15	98839940	unclassified	probably benign
IGL03102:Kmt2d	APN	15	98855543	missense	probably benign
IGL03123:Kmt2d	APN	15	98861771	missense	unknown
G1citation:Kmt2d	UTSW	15	98849459	unclassified	probably benign
R0091:Kmt2d	UTSW	15	98844479	unclassified	probably benign
R0136:Kmt2d	UTSW	15	98854278	unclassified	probably benign
R0243:Kmt2d	UTSW	15	98850137	unclassified	probably benign
R0276:Kmt2d	UTSW	15	98850311	unclassified	probably benign
R0477:Kmt2d	UTSW	15	98853581	unclassified	probably benign
R0478:Kmt2d	UTSW	15	98853581	unclassified	probably benign
R0586:Kmt2d	UTSW	15	98835207	unclassified	probably benign
R0632:Kmt2d	UTSW	15	98853581	unclassified	probably benign
R0678:Kmt2d	UTSW	15	98850413	unclassified	probably benign
R0780:Kmt2d	UTSW	15	98862857	missense	unknown
R0891:Kmt2d	UTSW	15	98852691	unclassified	probably benign
R1136:Kmt2d	UTSW	15	98857765	unclassified	probably benign
R1417:Kmt2d	UTSW	15	98866430	missense	probably damaging	0.99
R1499:Kmt2d	UTSW	15	98844938	unclassified	probably benign
R1510:Kmt2d	UTSW	15	98856377	unclassified	probably benign
R1586:Kmt2d	UTSW	15	98865053	splice site	probably benign
R1640:Kmt2d	UTSW	15	98845057	unclassified	probably benign
R1714:Kmt2d	UTSW	15	98862950	missense	unknown
R1725:Kmt2d	UTSW	15	98845234	unclassified	probably benign
R1728:Kmt2d	UTSW	15	98865132	missense	probably damaging	1.00
R1729:Kmt2d	UTSW	15	98865132	missense	probably damaging	1.00
R1741:Kmt2d	UTSW	15	98845234	unclassified	probably benign
R1744:Kmt2d	UTSW	15	98865047	missense	probably damaging	0.99
R1746:Kmt2d	UTSW	15	98864378	missense	probably damaging	0.97
R1753:Kmt2d	UTSW	15	98843482	unclassified	probably benign
R1782:Kmt2d	UTSW	15	98857548	unclassified	probably benign
R1789:Kmt2d	UTSW	15	98852074	unclassified	probably benign
R1802:Kmt2d	UTSW	15	98862985	missense	unknown
R1808:Kmt2d	UTSW	15	98866686	missense	probably damaging	1.00
R1822:Kmt2d	UTSW	15	98861780	missense	unknown
R1831:Kmt2d	UTSW	15	98855343	missense	probably damaging	0.97
R1920:Kmt2d	UTSW	15	98855590	missense	probably damaging	0.96
R1920:Kmt2d	UTSW	15	98855591	missense	probably damaging	1.00
R1956:Kmt2d	UTSW	15	98859590	unclassified	probably benign
R2100:Kmt2d	UTSW	15	98846480	unclassified	probably benign
R2120:Kmt2d	UTSW	15	98839529	unclassified	probably benign
R2188:Kmt2d	UTSW	15	98839300	unclassified	probably benign
R2191:Kmt2d	UTSW	15	98861049	critical splice donor site	probably null
R2234:Kmt2d	UTSW	15	98865248	missense	probably damaging	0.98
R2422:Kmt2d	UTSW	15	98862266	missense	unknown
R2762:Kmt2d	UTSW	15	98852055	unclassified	probably benign
R2895:Kmt2d	UTSW	15	98843939	unclassified	probably benign
R3624:Kmt2d	UTSW	15	98842902	unclassified	probably benign
R3791:Kmt2d	UTSW	15	98844149	unclassified	probably benign
R3794:Kmt2d	UTSW	15	98837359	unclassified	probably benign
R3871:Kmt2d	UTSW	15	98851021	unclassified	probably benign
R3958:Kmt2d	UTSW	15	98855549	missense	possibly damaging	0.69
R3983:Kmt2d	UTSW	15	98846046	unclassified	probably benign
R4211:Kmt2d	UTSW	15	98840189	unclassified	probably benign
R4212:Kmt2d	UTSW	15	98845003	unclassified	probably benign
R4240:Kmt2d	UTSW	15	98844571	unclassified	probably benign
R4246:Kmt2d	UTSW	15	98840089	unclassified	probably benign
R4361:Kmt2d	UTSW	15	98863670	missense	unknown
R4388:Kmt2d	UTSW	15	98853626	unclassified	probably benign
R4602:Kmt2d	UTSW	15	98850259	unclassified	probably benign
R4606:Kmt2d	UTSW	15	98839716	unclassified	probably benign
R4658:Kmt2d	UTSW	15	98852529	unclassified	probably benign
R4840:Kmt2d	UTSW	15	98861894	missense	unknown
R4895:Kmt2d	UTSW	15	98844487	unclassified	probably benign
R4906:Kmt2d	UTSW	15	98849539	unclassified	probably benign
R4976:Kmt2d	UTSW	15	98847194	utr 3 prime	probably benign
R5093:Kmt2d	UTSW	15	98856162	missense	probably damaging	1.00
R5119:Kmt2d	UTSW	15	98847194	utr 3 prime	probably benign
R5160:Kmt2d	UTSW	15	98840224	unclassified	probably benign
R5260:Kmt2d	UTSW	15	98842860	unclassified	probably benign
R5274:Kmt2d	UTSW	15	98854230	unclassified	probably benign
R5450:Kmt2d	UTSW	15	98855086	missense	probably damaging	1.00
R5461:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5462:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5463:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5465:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5467:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5481:Kmt2d	UTSW	15	98862005	missense	unknown
R5509:Kmt2d	UTSW	15	98839676	unclassified	probably benign
R5534:Kmt2d	UTSW	15	98837357	unclassified	probably benign
R5536:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5537:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5538:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5546:Kmt2d	UTSW	15	98853068	unclassified	probably benign
R5595:Kmt2d	UTSW	15	98850024	unclassified	probably benign
R5645:Kmt2d	UTSW	15	98844397	unclassified	probably benign
R5679:Kmt2d	UTSW	15	98854272	unclassified	probably benign
R5710:Kmt2d	UTSW	15	98854106	unclassified	probably benign
R5755:Kmt2d	UTSW	15	98863646	missense	unknown
R5817:Kmt2d	UTSW	15	98862363	missense	unknown
R5841:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5842:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5843:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5844:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5845:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R6122:Kmt2d	UTSW	15	98860692	unclassified	probably benign
R6612:Kmt2d	UTSW	15	98845858	unclassified	probably benign
R6718:Kmt2d	UTSW	15	98849586	unclassified	probably benign
R6718:Kmt2d	UTSW	15	98850539	unclassified	probably benign
R6822:Kmt2d	UTSW	15	98849459	unclassified	probably benign
R6866:Kmt2d	UTSW	15	98857393	unclassified	probably benign
R6950:Kmt2d	UTSW	15	98840020	unclassified	probably benign
R7089:Kmt2d	UTSW	15	98850272	missense	unknown
R7120:Kmt2d	UTSW	15	98861065	missense	unknown
R7177:Kmt2d	UTSW	15	98850386	missense	unknown
R7194:Kmt2d	UTSW	15	98843833	missense	unknown
R7252:Kmt2d	UTSW	15	98844266	missense	unknown
R7282:Kmt2d	UTSW	15	98854104	missense	unknown
R7307:Kmt2d	UTSW	15	98849418	missense	unknown
R7313:Kmt2d	UTSW	15	98856623	missense	unknown
R7394:Kmt2d	UTSW	15	98856384	missense	unknown
R7404:Kmt2d	UTSW	15	98845495	missense	unknown
R7409:Kmt2d	UTSW	15	98855354	missense	probably damaging	1.00
R7414:Kmt2d	UTSW	15	98839856	missense	unknown
R7534:Kmt2d	UTSW	15	98852018	missense	unknown
R7575:Kmt2d	UTSW	15	98849611	unclassified	probably benign
R7650:Kmt2d	UTSW	15	98850870	missense	unknown
R7687:Kmt2d	UTSW	15	98862120	missense	unknown
R7699:Kmt2d	UTSW	15	98843719	missense	unknown
R7700:Kmt2d	UTSW	15	98843719	missense	unknown
R7765:Kmt2d	UTSW	15	98852334	missense	unknown
R7797:Kmt2d	UTSW	15	98864406	missense	probably benign	0.24
R7803:Kmt2d	UTSW	15	98862923	missense	unknown
R7952:Kmt2d	UTSW	15	98850768	missense	unknown
R8054:Kmt2d	UTSW	15	98843925	missense	unknown
R8084:Kmt2d	UTSW	15	98842064	missense	unknown
R8089:Kmt2d	UTSW	15	98842869	missense	unknown
R8133:Kmt2d	UTSW	15	98864942	missense	probably damaging	1.00
R8138:Kmt2d	UTSW	15	98843653	missense	unknown
R8343:Kmt2d	UTSW	15	98852597	missense	unknown
R8681:Kmt2d	UTSW	15	98846067	missense	unknown
R8694:Kmt2d	UTSW	15	98844734	missense	unknown
R8837:Kmt2d	UTSW	15	98864167	missense	unknown
R8855:Kmt2d	UTSW	15	98856356	missense	unknown
R8934:Kmt2d	UTSW	15	98861886	missense	unknown
R9100:Kmt2d	UTSW	15	98849951	missense	unknown
R9158:Kmt2d	UTSW	15	98843139	missense	unknown
R9190:Kmt2d	UTSW	15	98852015	missense	unknown
R9222:Kmt2d	UTSW	15	98849443	missense	unknown
R9263:Kmt2d	UTSW	15	98849618	frame shift	probably null
R9336:Kmt2d	UTSW	15	98845816	missense	unknown
R9397:Kmt2d	UTSW	15	98850113	missense	unknown
R9415:Kmt2d	UTSW	15	98839705	missense	unknown
R9482:Kmt2d	UTSW	15	98865165	missense	probably damaging	1.00
R9529:Kmt2d	UTSW	15	98839768	missense	unknown
R9610:Kmt2d	UTSW	15	98845176	unclassified	probably benign
R9611:Kmt2d	UTSW	15	98845173	unclassified	probably benign
R9611:Kmt2d	UTSW	15	98845176	unclassified	probably benign
R9612:Kmt2d	UTSW	15	98845176	unclassified	probably benign
R9613:Kmt2d	UTSW	15	98845176	unclassified	probably benign
R9644:Kmt2d	UTSW	15	98845504	missense	unknown
R9716:Kmt2d	UTSW	15	98843402	missense	unknown
R9763:Kmt2d	UTSW	15	98845176	unclassified	probably benign
R9782:Kmt2d	UTSW	15	98866716	missense	probably damaging	1.00
X0018:Kmt2d	UTSW	15	98852922	unclassified	probably benign
X0024:Kmt2d	UTSW	15	98853053	unclassified	probably benign
X0062:Kmt2d	UTSW	15	98849819	unclassified	probably benign
Z1187:Kmt2d	UTSW	15	98851744	missense	unknown
Z1188:Kmt2d	UTSW	15	98851744	missense	unknown
Z1189:Kmt2d	UTSW	15	98851744	missense	unknown
Z1190:Kmt2d	UTSW	15	98851744	missense	unknown
Z1192:Kmt2d	UTSW	15	98851744	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TAGACACCATAGCCACGGATG -3'
(R):5'- CTAGAAAGTGGGGCCCTAAC -3'

Sequencing Primer
(F):5'- CTGCTGAAGGGCATGAGCTG -3'
(R):5'- TAGAAAGTGGGGCCCTAACCTTAC -3'

Posted On

2019-05-15