Mutagenetix > Incidental Mutation

Incidental Mutation 'R7177:Kmt2d'

558723

Institutional Source

Beutler Lab

Gene Symbol

Kmt2d

Ensembl Gene

ENSMUSG00000048154

Gene Name

lysine (K)-specific methyltransferase 2D

Synonyms

Mll4, Mll2, C430014K11Rik

MMRRC Submission

045268-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7177 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98729550-98769085 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98748267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 3019 (T3019I)

Ref Sequence

ENSEMBL: ENSMUSP00000023741 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000023741
AA Change: T3019I

SMART Domains

Protein: ENSMUSP00000023741
Gene: ENSMUSG00000048154
AA Change: T3019I

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: T3019I

SMART Domains

Protein: ENSMUSP00000135941
Gene: ENSMUSG00000048154
AA Change: T3019I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	T	C	9: 53,325,685 (GRCm39)	L74S	probably damaging	Het
5730409E04Rik	A	G	4: 126,505,525 (GRCm39)	S18G	probably benign	Het
Adam29	A	G	8: 56,325,659 (GRCm39)	I265T	probably benign	Het
Aff4	C	T	11: 53,297,466 (GRCm39)	S896L	probably benign	Het
Ankrd27	T	C	7: 35,318,822 (GRCm39)	I571T	probably damaging	Het
Bdp1	C	A	13: 100,186,478 (GRCm39)	R1658I	probably damaging	Het
Carm1	C	T	9: 21,458,323 (GRCm39)	T7M	unknown	Het
Ccdc183	A	G	2: 25,506,296 (GRCm39)	V100A	probably damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Ceacam2	T	G	7: 25,220,341 (GRCm39)	D239A	probably benign	Het
Cfap96	T	A	8: 46,423,444 (GRCm39)	E89D	possibly damaging	Het
Cimap1c	T	A	9: 56,757,262 (GRCm39)	M139L	possibly damaging	Het
Cmya5	T	C	13: 93,231,836 (GRCm39)	D1084G	probably benign	Het
Cog5	T	A	12: 31,810,888 (GRCm39)	I194K	probably damaging	Het
Col20a1	C	T	2: 180,636,007 (GRCm39)	Q211*	probably null	Het
Col9a1	T	A	1: 24,234,498 (GRCm39)	L13Q	unknown	Het
Cracr2a	A	T	6: 127,585,669 (GRCm39)	M156L	probably benign	Het
Cts8	C	T	13: 61,399,505 (GRCm39)	M151I	possibly damaging	Het
Cyp2ab1	A	T	16: 20,135,469 (GRCm39)	L11Q	probably null	Het
Dhrs13	T	A	11: 77,925,208 (GRCm39)	C160S	probably benign	Het
Enthd1	T	A	15: 80,358,415 (GRCm39)	E368D	probably damaging	Het
Fbh1	A	G	2: 11,760,522 (GRCm39)	I676T	probably damaging	Het
Fcgrt	T	C	7: 44,751,421 (GRCm39)	R176G	probably benign	Het
Gatd1	A	G	7: 140,990,947 (GRCm39)	F67L	possibly damaging	Het
Gm4353	G	A	7: 115,683,727 (GRCm39)	P23S	probably damaging	Het
Gm6882	T	A	7: 21,161,677 (GRCm39)	I64F	possibly damaging	Het
Grwd1	A	T	7: 45,480,204 (GRCm39)	M1K	probably null	Het
Hook2	T	A	8: 85,718,046 (GRCm39)	S58T	probably benign	Het
Iqch	T	G	9: 63,329,117 (GRCm39)	*1072C	probably null	Het
Lmx1a	T	C	1: 167,674,247 (GRCm39)	S356P	probably benign	Het
Lrig3	A	G	10: 125,842,712 (GRCm39)	M546V	probably benign	Het
Lrrc1	C	A	9: 77,379,504 (GRCm39)	E96*	probably null	Het
Lrtm2	C	A	6: 119,294,113 (GRCm39)	M339I	probably damaging	Het
Map10	T	C	8: 126,398,584 (GRCm39)	V659A	probably benign	Het
Map7d1	A	G	4: 126,130,778 (GRCm39)	C384R	probably damaging	Het
Mcur1	T	C	13: 43,698,012 (GRCm39)	D296G	probably damaging	Het
Mettl24	A	T	10: 40,686,508 (GRCm39)	H295L	probably damaging	Het
Mgat4f	T	C	1: 134,318,163 (GRCm39)	S312P	probably benign	Het
Mpl	A	G	4: 118,305,741 (GRCm39)		probably null	Het
Mrps5	T	C	2: 127,437,617 (GRCm39)	V148A	probably benign	Het
N4bp2	T	C	5: 65,964,891 (GRCm39)	V980A	probably damaging	Het
Ncaph	A	T	2: 126,958,506 (GRCm39)	D504E	probably damaging	Het
Nxph1	A	G	6: 9,247,497 (GRCm39)	N156S	probably damaging	Het
Or2t26	T	A	11: 49,040,012 (GRCm39)	C309*	probably null	Het
Or4f14b	T	A	2: 111,775,501 (GRCm39)	Q100L	probably damaging	Het
Pafah1b3	T	A	7: 24,994,657 (GRCm39)	I186L	probably benign	Het
Papola	C	A	12: 105,775,790 (GRCm39)	N235K	possibly damaging	Het
Pcnx3	A	T	19: 5,737,527 (GRCm39)	M98K	probably benign	Het
Pip4p1	A	C	14: 51,167,634 (GRCm39)	M104R	possibly damaging	Het
Pkhd1l1	A	G	15: 44,330,800 (GRCm39)	N125S	probably damaging	Het
Pls1	T	A	9: 95,655,612 (GRCm39)	H380L	probably benign	Het
Plxna1	T	C	6: 89,300,311 (GRCm39)	T1591A	possibly damaging	Het
Pparg	T	G	6: 115,418,581 (GRCm39)	S147A	probably benign	Het
Prdm10	T	C	9: 31,279,003 (GRCm39)	S1025P	probably benign	Het
Prkcd	T	A	14: 30,321,664 (GRCm39)	H510L	probably damaging	Het
Ptprh	T	A	7: 4,572,480 (GRCm39)	E499D	possibly damaging	Het
Rad51ap1	A	G	6: 126,901,983 (GRCm39)	S256P	probably benign	Het
Rad54b	A	G	4: 11,599,755 (GRCm39)	T320A	probably damaging	Het
Rnf207	A	G	4: 152,396,634 (GRCm39)	I459T	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Ryr3	A	T	2: 112,731,188 (GRCm39)	D727E	probably damaging	Het
Sdk2	C	T	11: 113,720,795 (GRCm39)	R1378H	possibly damaging	Het
Slc7a11	A	G	3: 50,397,680 (GRCm39)	S11P	probably benign	Het
Sox4	A	G	13: 29,137,000 (GRCm39)	V2A	probably damaging	Het
Srf	A	G	17: 46,866,318 (GRCm39)	F146S	probably damaging	Het
Srrm2	T	C	17: 24,035,747 (GRCm39)	V797A	unknown	Het
Stk32c	T	C	7: 138,684,218 (GRCm39)	D463G	possibly damaging	Het
Syne2	C	A	12: 76,018,654 (GRCm39)	Y3384*	probably null	Het
Tektl1	T	C	10: 78,588,324 (GRCm39)	D162G	probably damaging	Het
Traip	T	A	9: 107,838,184 (GRCm39)	M139K	possibly damaging	Het
Trappc2l	T	A	8: 123,341,051 (GRCm39)	F100Y	probably damaging	Het
Ush1c	T	C	7: 45,878,643 (GRCm39)	D124G	probably damaging	Het
Uty	A	G	Y: 1,099,691 (GRCm39)	V1168A	probably benign	Het
Vmn2r25	T	C	6: 123,816,882 (GRCm39)	D233G	possibly damaging	Het
Zdbf2	C	T	1: 63,334,120 (GRCm39)	R31C	possibly 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
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	98,748,420 (GRCm39)	unclassified	probably benign
R6718:Kmt2d	UTSW	15	98,747,467 (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
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'- AAGCGAGGCTCAGAGTTATC -3'
(R):5'- ACACTGAACTTAGTCGTCCCC -3'

Sequencing Primer
(F):5'- AGGACACTGGCTCCACC -3'
(R):5'- GAACTTAGTCGTCCCCCTCTGG -3'

Posted On

2019-06-26