Mutagenetix > Incidental Mutation

Incidental Mutation 'R1640:Kmt2d'

173497

Institutional Source

Beutler Lab

Gene Symbol

Kmt2d

Ensembl Gene

ENSMUSG00000048154

Gene Name

lysine (K)-specific methyltransferase 2D

Synonyms

Mll2, C430014K11Rik, Mll4

MMRRC Submission

039676-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1640 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98831669-98871204 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 98845057 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

unknown
Transcript: ENSMUST00000023741
AA Change: L4074P

SMART Domains

Protein: ENSMUSP00000023741
Gene: ENSMUSG00000048154
AA Change: L4074P

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: L4074P

SMART Domains

Protein: ENSMUSP00000135941
Gene: ENSMUSG00000048154
AA Change: L4074P

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: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	C	A	8: 124,839,845 (GRCm38)	V279L	probably damaging	Het
4931417E11Rik	A	G	6: 73,468,886 (GRCm38)	Y227H	probably benign	Het
Acot6	A	T	12: 84,101,126 (GRCm38)	Y52F	probably damaging	Het
Adam22	C	T	5: 8,145,689 (GRCm38)	V284I	probably damaging	Het
Agl	A	T	3: 116,752,090 (GRCm38)	H1352Q	probably benign	Het
Aldh18a1	G	A	19: 40,585,499 (GRCm38)	P27S	probably benign	Het
C1ra	A	G	6: 124,522,274 (GRCm38)	N473S	probably benign	Het
C87436	T	C	6: 86,446,251 (GRCm38)	L269P	probably damaging	Het
Calcrl	A	G	2: 84,333,677 (GRCm38)	V390A	probably damaging	Het
Ccp110	T	G	7: 118,715,528 (GRCm38)		probably null	Het
Cerk	A	G	15: 86,149,400 (GRCm38)	V274A	probably damaging	Het
Chd1l	A	T	3: 97,580,991 (GRCm38)	S570T	probably benign	Het
Chst14	T	A	2: 118,926,898 (GRCm38)	W83R	probably damaging	Het
Chsy1	A	T	7: 66,171,514 (GRCm38)	D499V	probably benign	Het
Ckmt1	C	A	2: 121,359,717 (GRCm38)		probably null	Het
Cnot1	A	T	8: 95,769,832 (GRCm38)	V282D	probably damaging	Het
Cntn3	A	T	6: 102,242,013 (GRCm38)	S549T	possibly damaging	Het
Cntnap5c	A	T	17: 58,395,294 (GRCm38)	D1203V	probably benign	Het
Col4a4	A	G	1: 82,535,770 (GRCm38)	Y169H	unknown	Het
Cwc22	A	G	2: 77,915,530 (GRCm38)	F454S	possibly damaging	Het
Dab1	C	T	4: 104,731,751 (GRCm38)	A524V	probably benign	Het
Dhrs7	A	T	12: 72,652,315 (GRCm38)	W298R	possibly damaging	Het
Dock7	G	T	4: 98,945,246 (GRCm38)	T1906N	probably damaging	Het
Dpy19l3	T	C	7: 35,749,778 (GRCm38)	T67A	probably benign	Het
Drc1	A	G	5: 30,363,957 (GRCm38)	D654G	possibly damaging	Het
Ech1	A	T	7: 28,831,839 (GRCm38)	H284L	probably damaging	Het
Epc1	G	A	18: 6,441,175 (GRCm38)	Q8*	probably null	Het
Etv5	A	T	16: 22,435,914 (GRCm38)	D65E	probably damaging	Het
F2rl3	A	G	8: 72,762,906 (GRCm38)	R254G	probably benign	Het
Fabp5	T	G	3: 10,015,110 (GRCm38)	F73L	probably benign	Het
Fbrs	T	C	7: 127,487,311 (GRCm38)	I611T	probably damaging	Het
Flnc	T	C	6: 29,433,807 (GRCm38)	S117P	possibly damaging	Het
Frmd4b	A	C	6: 97,308,673 (GRCm38)	S291A	possibly damaging	Het
Galnt13	A	G	2: 55,060,546 (GRCm38)	Y413C	probably damaging	Het
Gfer	A	G	17: 24,695,363 (GRCm38)	Y109H	possibly damaging	Het
Gli2	T	C	1: 118,836,524 (GRCm38)	H1299R	possibly damaging	Het
Gm10110	T	C	14: 89,898,243 (GRCm38)		noncoding transcript	Het
Gprc5a	T	G	6: 135,078,654 (GRCm38)	L33W	probably damaging	Het
Grin3a	T	C	4: 49,844,721 (GRCm38)	T121A	probably benign	Het
Grk3	A	G	5: 113,015,382 (GRCm38)	V33A	probably benign	Het
Hc	A	T	2: 35,057,324 (GRCm38)	Y59*	probably null	Het
Hrnr	A	G	3: 93,332,516 (GRCm38)	I3354V	unknown	Het
Hyou1	C	G	9: 44,389,406 (GRCm38)	T924S	probably benign	Het
Ifi209	T	G	1: 173,637,365 (GRCm38)	H20Q	probably damaging	Het
Ifi44	A	G	3: 151,732,534 (GRCm38)	V372A	probably benign	Het
Igdcc4	T	A	9: 65,122,795 (GRCm38)	L328H	probably damaging	Het
Kif18a	A	G	2: 109,289,816 (GRCm38)	T155A	probably benign	Het
Kri1	T	C	9: 21,280,457 (GRCm38)	D281G	possibly damaging	Het
Larp1b	T	A	3: 41,034,072 (GRCm38)	M1K	probably null	Het
Loxhd1	A	G	18: 77,402,563 (GRCm38)	D1225G	probably damaging	Het
Mzf1	A	G	7: 13,043,270 (GRCm38)	*736Q	probably null	Het
Naip2	C	T	13: 100,161,981 (GRCm38)	A516T	possibly damaging	Het
Ncf2	T	A	1: 152,808,033 (GRCm38)	M1K	probably null	Het
Olfr1095	T	A	2: 86,851,227 (GRCm38)	H157L	probably benign	Het
Olfr1100	A	C	2: 86,978,619 (GRCm38)	M59R	probably damaging	Het
Parp12	T	C	6: 39,111,678 (GRCm38)	H208R	probably damaging	Het
Parp12	T	C	6: 39,096,640 (GRCm38)	D417G	probably benign	Het
Pcif1	T	C	2: 164,885,683 (GRCm38)	I132T	probably benign	Het
Pck2	A	G	14: 55,548,584 (GRCm38)	D610G	possibly damaging	Het
Plbd1	T	C	6: 136,640,125 (GRCm38)	K185E	probably benign	Het
Ppp2r5a	T	C	1: 191,353,929 (GRCm38)	M425V	probably damaging	Het
Rapgef6	T	A	11: 54,657,405 (GRCm38)	V805D	probably damaging	Het
Rprd2	C	T	3: 95,763,747 (GRCm38)		probably benign	Het
Ryr3	A	G	2: 112,900,833 (GRCm38)	S711P	probably damaging	Het
Slc17a3	T	A	13: 23,852,357 (GRCm38)	L212*	probably null	Het
Slc4a8	A	G	15: 100,783,787 (GRCm38)	D41G	probably benign	Het
Slc9a3	T	A	13: 74,158,818 (GRCm38)	V354E	probably damaging	Het
Spen	A	G	4: 141,468,943 (GRCm38)	I3632T	probably damaging	Het
Tesc	A	G	5: 118,054,849 (GRCm38)	S77G	probably benign	Het
Tet3	A	T	6: 83,369,315 (GRCm38)	V1245D	probably benign	Het
Tox4	T	A	14: 52,292,543 (GRCm38)	D553E	possibly damaging	Het
Tpmt	A	T	13: 47,027,283 (GRCm38)	Y193*	probably null	Het
Trio	T	C	15: 27,833,044 (GRCm38)	Y1169C	probably damaging	Het
Urb1	G	A	16: 90,772,626 (GRCm38)	T1404I	probably benign	Het
Usp47	T	C	7: 112,083,127 (GRCm38)	S540P	probably damaging	Het
Vmn1r178	A	T	7: 23,894,123 (GRCm38)	M126L	possibly damaging	Het
Vmn1r223	T	C	13: 23,250,178 (GRCm38)	F314S	probably damaging	Het
Vmn2r112	A	T	17: 22,605,116 (GRCm38)	I451L	probably benign	Het
Zfc3h1	A	G	10: 115,406,901 (GRCm38)		probably null	Het
Zfp503	A	T	14: 21,984,901 (GRCm38)	L649Q	probably damaging	Het
Zfp977	A	C	7: 42,580,106 (GRCm38)	C332G	probably damaging	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
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	98,849,586 (GRCm38)	unclassified	probably benign
R6718:Kmt2d	UTSW	15	98,850,539 (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
R9336:Kmt2d	UTSW	15	98,845,816 (GRCm38)	missense	unknown
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'- AGAAATGGAAGGCTTCACCTCCCC -3'
(R):5'- GCTACAGCAGCAACAGATGCTACAG -3'

Sequencing Primer
(F):5'- CTGGCTCAACAGACATTGGC -3'
(R):5'- ctccagcaacaacagcaac -3'

Posted On

2014-04-24