Mutagenetix > Incidental Mutation

Incidental Mutation 'R9336:Kmt2d'

707188

Institutional Source

Beutler Lab

Gene Symbol

Kmt2d

Ensembl Gene

ENSMUSG00000048154

Gene Name

lysine (K)-specific methyltransferase 2D

Synonyms

Mll2, C430014K11Rik, Mll4

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9336 (G1)

Quality Score

189.009

Status

Not validated

Chromosome

Chromosomal Location

98831669-98871204 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 98845816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 3821 (L3821R)

Ref Sequence

ENSEMBL: ENSMUSP00000023741 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000023741
AA Change: L3821R

SMART Domains

Protein: ENSMUSP00000023741
Gene: ENSMUSG00000048154
AA Change: L3821R

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: L3821R

SMART Domains

Protein: ENSMUSP00000135941
Gene: ENSMUSG00000048154
AA Change: L3821R

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: 99.8%
20x: 99.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	C	T	4: 147,945,033 (GRCm38)	R487C	probably benign	Het
2610044O15Rik8	A	T	8: 129,217,668 (GRCm38)	D91E	unknown	Het
2900026A02Rik	A	T	5: 113,093,100 (GRCm38)		probably null	Het
9130011E15Rik	A	T	19: 45,956,681 (GRCm38)	M277K	probably damaging	Het
Adamts15	T	A	9: 30,904,789 (GRCm38)	T625S	probably damaging	Het
Adamtsl1	T	C	4: 86,322,027 (GRCm38)	V675A	probably benign	Het
Ank3	A	T	10: 69,973,748 (GRCm38)	T1120S	probably benign	Het
Babam2	A	T	5: 31,701,850 (GRCm38)	M1L	possibly damaging	Het
Cadm3	G	A	1: 173,341,219 (GRCm38)	Q261*	probably null	Het
Cdc27	A	T	11: 104,505,670 (GRCm38)	D802E	probably benign	Het
Cfap206	C	T	4: 34,716,494 (GRCm38)	V324I	probably benign	Het
Cfap44	T	C	16: 44,422,444 (GRCm38)	I737T	probably damaging	Het
Chrm3	A	T	13: 9,878,616 (GRCm38)	I128N	probably damaging	Het
Cyfip1	T	A	7: 55,904,441 (GRCm38)	S743T	probably benign	Het
Ddias	A	G	7: 92,858,106 (GRCm38)	V867A	possibly damaging	Het
Ddx20	G	C	3: 105,678,587 (GRCm38)	T814R	possibly damaging	Het
Dgka	A	T	10: 128,731,066 (GRCm38)		probably null	Het
Dnah9	A	T	11: 65,870,949 (GRCm38)	V3905E	probably damaging	Het
Dsg3	C	A	18: 20,524,685 (GRCm38)	Q271K	probably benign	Het
Dvl2	T	A	11: 70,006,354 (GRCm38)	I294N	probably damaging	Het
E2f3	G	A	13: 29,911,256 (GRCm38)	H350Y	possibly damaging	Het
Eif2b5	G	A	16: 20,505,277 (GRCm38)	D457N	probably damaging	Het
Erbb3	T	C	10: 128,585,060 (GRCm38)	T125A	probably benign	Het
Etv5	A	C	16: 22,435,877 (GRCm38)	C78G	probably benign	Het
Frrs1	G	A	3: 116,890,933 (GRCm38)	R263H	probably benign	Het
Grid1	G	A	14: 35,321,707 (GRCm38)	D340N	probably damaging	Het
Hivep3	A	T	4: 120,095,203 (GRCm38)	I239F	possibly damaging	Het
Ifi208	C	T	1: 173,682,828 (GRCm38)	T183I	probably damaging	Het
Ifitm2	AG	A	7: 140,955,901 (GRCm38)		probably null	Het
Igkv1-88	T	A	6: 68,862,329 (GRCm38)	I100F	probably damaging	Het
Kmt2c	T	C	5: 25,409,167 (GRCm38)	N185S	probably benign	Het
Krtap22-2	T	G	16: 89,010,590 (GRCm38)	Y40S	unknown	Het
Lrrc1	A	G	9: 77,442,198 (GRCm38)	V362A	probably damaging	Het
Malsu1	T	A	6: 49,084,515 (GRCm38)	I171N	probably damaging	Het
Mark1	C	T	1: 184,916,148 (GRCm38)	G314S	possibly damaging	Het
Mib2	T	C	4: 155,658,937 (GRCm38)	N135S	probably benign	Het
Mos	A	T	4: 3,870,886 (GRCm38)	L310Q	probably damaging	Het
Muc4	C	T	16: 32,750,938 (GRCm38)	T272I	possibly damaging	Het
Myo15b	A	G	11: 115,880,238 (GRCm38)	T1654A		Het
Napsa	G	T	7: 44,582,345 (GRCm38)	G153W	probably damaging	Het
Nos3	A	C	5: 24,379,763 (GRCm38)	I722L	probably benign	Het
Olfr1457	A	T	19: 13,095,149 (GRCm38)	S166R	probably benign	Het
Olfr406	A	T	11: 74,269,917 (GRCm38)	D176V	probably damaging	Het
Olfr419	A	T	1: 174,250,113 (GRCm38)	D271E	probably damaging	Het
Olfr555	A	T	7: 102,658,992 (GRCm38)	H57L	probably damaging	Het
P4ha2	T	A	11: 54,111,564 (GRCm38)	D109E	possibly damaging	Het
Pappa	G	T	4: 65,124,681 (GRCm38)	C47F	unknown	Het
Pbx3	T	A	2: 34,371,820 (GRCm38)	H34L	probably benign	Het
Pcca	A	G	14: 122,650,326 (GRCm38)	T234A	probably benign	Het
Pcdha11	C	T	18: 37,011,461 (GRCm38)	R202W	probably damaging	Het
Pcdhga1	T	G	18: 37,662,198 (GRCm38)	V85G	probably damaging	Het
Pclo	A	G	5: 14,676,548 (GRCm38)	I1807V	unknown	Het
Pgm3	A	T	9: 86,555,360 (GRCm38)	F528Y	probably benign	Het
Pigz	T	C	16: 31,944,876 (GRCm38)	Y251H	probably damaging	Het
Pik3c2g	G	T	6: 139,875,435 (GRCm38)	Q687H		Het
Pja2	A	T	17: 64,283,437 (GRCm38)	N700K	unknown	Het
Pkd2l2	T	C	18: 34,428,105 (GRCm38)	F389L	probably damaging	Het
Plcz1	T	A	6: 140,039,720 (GRCm38)	T32S	possibly damaging	Het
Pola2	A	G	19: 5,941,001 (GRCm38)	V555A	possibly damaging	Het
Ppp4r3a	A	C	12: 101,049,660 (GRCm38)	C541G	probably benign	Het
Prr15l	A	T	11: 96,934,773 (GRCm38)	K76N	probably damaging	Het
Psg28	C	A	7: 18,422,980 (GRCm38)	K443N	possibly damaging	Het
Ptch2	A	G	4: 117,109,579 (GRCm38)	D553G	possibly damaging	Het
Ptch2	G	T	4: 117,097,000 (GRCm38)	A76S	probably damaging	Het
Ptprz1	T	C	6: 23,000,856 (GRCm38)	S982P	probably benign	Het
Rnd3	T	C	2: 51,148,832 (GRCm38)	I15V	probably benign	Het
Rtn3	T	C	19: 7,482,963 (GRCm38)	K41E	unknown	Het
Sap25	T	C	5: 137,641,723 (GRCm38)	S30P	probably benign	Het
Scfd2	A	T	5: 74,531,345 (GRCm38)	I92N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,108 (GRCm38)	Y106C	probably damaging	Het
Sell	T	C	1: 164,065,608 (GRCm38)	I131T	probably damaging	Het
Sesn3	T	A	9: 14,314,554 (GRCm38)	V195D	probably damaging	Het
Setdb2	A	G	14: 59,423,367 (GRCm38)	V109A	unknown	Het
Skint2	T	C	4: 112,625,857 (GRCm38)	I153T	probably benign	Het
Slc22a1	A	G	17: 12,667,255 (GRCm38)	S164P	probably damaging	Het
Sowahc	G	A	10: 59,222,483 (GRCm38)	G147D	probably benign	Het
Strip2	G	C	6: 29,931,825 (GRCm38)	G456R	probably benign	Het
Synpo	G	T	18: 60,602,400 (GRCm38)	R825S	probably damaging	Het
Tango6	A	G	8: 106,689,069 (GRCm38)	D174G	probably benign	Het
Tas1r2	T	C	4: 139,662,005 (GRCm38)	F433S	probably damaging	Het
Tas2r126	T	C	6: 42,434,943 (GRCm38)	S137P	probably benign	Het
Tbc1d15	A	G	10: 115,208,961 (GRCm38)	F512S	probably damaging	Het
Tenm3	A	T	8: 48,417,080 (GRCm38)	L226Q	probably damaging	Het
Tmod1	A	G	4: 46,078,368 (GRCm38)	T59A	probably damaging	Het
Tmprss9	T	A	10: 80,894,953 (GRCm38)	M771K	probably benign	Het
Trim29	T	C	9: 43,327,053 (GRCm38)	Y485H	possibly damaging	Het
Ttc17	T	C	2: 94,358,853 (GRCm38)	K144E	probably benign	Het
Ttc21b	A	G	2: 66,226,943 (GRCm38)	Y562H	probably benign	Het
Ugt2b5	T	C	5: 87,137,271 (GRCm38)	H269R	probably benign	Het
Utp20	A	G	10: 88,813,936 (GRCm38)	F471L	probably damaging	Het
Vmn2r120	T	A	17: 57,525,201 (GRCm38)	D196V	possibly damaging	Het
Wdr72	T	C	9: 74,210,010 (GRCm38)	V680A	probably damaging	Het
Wee1	G	A	7: 110,122,482 (GRCm38)	G45S	probably damaging	Het
Zfp518a	G	A	19: 40,912,781 (GRCm38)	V385I	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
R1510:Kmt2d	UTSW	15	98,856,377 (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	98,850,539 (GRCm38)	unclassified	probably benign
R6718:Kmt2d	UTSW	15	98,849,586 (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
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'- GAAAGCCCTGTCATAGATCCC -3'
(R):5'- AACAAGGTCCCGGAGTACAG -3'

Sequencing Primer
(F):5'- AAAGCCCTGTCATAGATCCCTGTTG -3'
(R):5'- CGGAGTACAGAACCAGGCTCTG -3'

Posted On

2022-04-18