Mutagenetix > Incidental Mutation

Incidental Mutation 'R1956:Kmt2d'

217845

Institutional Source

Beutler Lab

Gene Symbol

Kmt2d

Ensembl Gene

ENSMUSG00000048154

Gene Name

lysine (K)-specific methyltransferase 2D

Synonyms

Mll2, C430014K11Rik, Mll4

MMRRC Submission

039970-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1956 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

98831669-98871204 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 98859590 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139020 (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: F1342L

SMART Domains

Protein: ENSMUSP00000023741
Gene: ENSMUSG00000048154
AA Change: F1342L

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: F1342L

SMART Domains

Protein: ENSMUSP00000135941
Gene: ENSMUSG00000048154
AA Change: F1342L

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	T	4: 42,970,105		probably null	Het
2610044O15Rik8	A	T	8: 129,221,828	D41E	possibly damaging	Het
Aard	A	T	15: 52,044,920	D157V	probably damaging	Het
Abcg5	A	G	17: 84,670,375	V151A	probably damaging	Het
Acss3	A	G	10: 106,936,168	V682A	probably benign	Het
Adamts9	A	T	6: 92,859,849	C641S	probably damaging	Het
Adipor1	T	C	1: 134,423,033	S7P	probably benign	Het
Ankrd27	T	A	7: 35,603,839	Y215N	probably damaging	Het
Arhgef7	T	A	8: 11,805,266	L182Q	probably damaging	Het
Arnt	C	T	3: 95,448,393	S16L	possibly damaging	Het
Arrdc4	T	C	7: 68,741,799	K240R	probably benign	Het
Atg2b	T	C	12: 105,669,418	Y197C	probably damaging	Het
Atp13a2	A	G	4: 141,004,261	K907R	possibly damaging	Het
Cadps2	A	T	6: 23,287,686	M1160K	probably damaging	Het
Ccdc105	A	G	10: 78,750,539		probably null	Het
Cdk12	A	G	11: 98,219,216	T688A	probably benign	Het
Cfap43	T	A	19: 47,897,210	Y322F	probably benign	Het
Crabp2	T	C	3: 87,948,886	F16L	probably damaging	Het
Creb3	A	G	4: 43,563,279		probably null	Het
Crk	T	C	11: 75,692,670	Y239H	possibly damaging	Het
Cyp3a13	A	G	5: 137,909,942	I215T	probably benign	Het
D130043K22Rik	A	G	13: 24,885,595	Y879C	probably damaging	Het
Depdc5	T	C	5: 32,903,831	V334A	probably damaging	Het
Dgkh	T	C	14: 78,618,541	N231S	probably damaging	Het
Disp2	T	A	2: 118,792,223	H1145Q	probably benign	Het
Epb41l4b	T	C	4: 57,038,553	T563A	possibly damaging	Het
Ephb3	G	A	16: 21,221,382	R498H	probably damaging	Het
F10	T	C	8: 13,055,422	I329T	probably damaging	Het
Fam13b	G	T	18: 34,445,329	Q760K	possibly damaging	Het
Fmo4	G	A	1: 162,803,690	T236I	probably benign	Het
Foxp4	C	T	17: 47,875,871	R378Q	unknown	Het
Fpr-rs4	A	G	17: 18,022,256	Y175C	probably damaging	Het
Fzd8	T	A	18: 9,214,502	M528K	probably damaging	Het
Gcc2	A	G	10: 58,286,143	H1134R	possibly damaging	Het
Gdf10	G	A	14: 33,932,753	A406T	probably benign	Het
Ggn	T	A	7: 29,171,916	S240R	probably damaging	Het
Git2	C	T	5: 114,749,337	W299*	probably null	Het
Gm42669	A	T	5: 107,508,872	E355D	possibly damaging	Het
Gm5134	T	C	10: 76,004,846	F508S	possibly damaging	Het
Gm9923	G	T	10: 72,309,660	V114L	probably benign	Het
Has3	A	T	8: 106,878,803	Y547F	probably benign	Het
Heatr5a	A	G	12: 51,945,419		probably null	Het
Hnrnpk	A	T	13: 58,396,186		probably null	Het
Ifna4	A	T	4: 88,842,074	I72F	probably damaging	Het
Ip6k3	A	T	17: 27,151,168	L92Q	probably benign	Het
Itpripl1	T	C	2: 127,142,007	E65G	probably damaging	Het
Kcnh5	G	C	12: 74,897,584	Q964E	probably benign	Het
Lrrc69	A	G	4: 14,665,986	V324A	possibly damaging	Het
Mefv	T	C	16: 3,717,827	Q79R	probably damaging	Het
Mettl17	T	C	14: 51,888,797	S168P	probably damaging	Het
Mpp4	A	T	1: 59,158,652	S23T	probably benign	Het
Nabp1	A	T	1: 51,477,845	V24D	probably damaging	Het
Nod2	T	A	8: 88,664,208	F359Y	probably damaging	Het
Olfr1355	A	G	10: 78,879,433	Q87R	probably benign	Het
Olfr1461	T	C	19: 13,165,196	Y61H	probably damaging	Het
Olfr1511	C	T	14: 52,390,580	M64I	probably benign	Het
Olfr2	C	T	7: 107,001,135	A242T	probably damaging	Het
Olfr406	A	T	11: 74,269,844	T152S	probably damaging	Het
Olfr64	T	G	7: 103,893,718	S6R	probably benign	Het
Olfr653	C	A	7: 104,579,909	L88M	probably damaging	Het
Olfr987	T	C	2: 85,331,100	D266G	probably benign	Het
Pcdh18	T	C	3: 49,755,951	H305R	probably benign	Het
Phf1	T	A	17: 26,935,745		probably null	Het
Pold3	T	C	7: 100,088,111	K379R	probably benign	Het
Pou2f3	T	A	9: 43,145,237	T108S	probably benign	Het
Prdm5	C	A	6: 65,936,076	T203K	probably damaging	Het
Psma5	A	G	3: 108,266,444	S79G	probably benign	Het
Psme4	T	A	11: 30,832,424	S889T	probably damaging	Het
Ptk2	A	T	15: 73,215,983	V902D	possibly damaging	Het
Rad54l	T	A	4: 116,110,357	I243F	probably damaging	Het
Ralgapa2	A	G	2: 146,460,759	F95L	probably benign	Het
Rassf6	G	A	5: 90,615,871	Q71*	probably null	Het
Ryr2	A	T	13: 11,681,080	L2967H	probably damaging	Het
Scn5a	T	C	9: 119,517,413	T1058A	possibly damaging	Het
Sdk1	T	C	5: 142,094,581	L1276P	probably damaging	Het
Serpina12	T	G	12: 104,035,789	T223P	probably damaging	Het
Sh3yl1	A	G	12: 30,942,788		probably null	Het
St6galnac5	T	A	3: 152,846,483	Q149L	probably benign	Het
Stam2	T	C	2: 52,708,227		probably null	Het
Tac2	A	G	10: 127,728,480		probably null	Het
Tbata	G	A	10: 61,183,477	D271N	probably damaging	Het
Tbx3	T	C	5: 119,680,953	V531A	probably benign	Het
Thra	T	A	11: 98,763,741	D312E	probably benign	Het
Tlr1	T	A	5: 64,925,177	I686F	probably damaging	Het
Tmem86b	A	T	7: 4,628,707	F115L	probably benign	Het
Tmem94	A	G	11: 115,788,674	D259G	possibly damaging	Het
Trim69	G	A	2: 122,174,475		probably null	Het
Twistnb	T	A	12: 33,437,818	V244D	probably benign	Het
Usp43	T	A	11: 67,904,333	Q243L	probably damaging	Het
Vcam1	T	C	3: 116,125,957	Y226C	probably damaging	Het
Vmn2r104	A	T	17: 20,042,051	N272K	probably damaging	Het
Vmn2r26	G	A	6: 124,053,887	C527Y	probably damaging	Het
Vmn2r84	G	A	10: 130,390,808	A387V	probably benign	Het
Vps13b	A	T	15: 35,869,407	I2686F	probably damaging	Het
Vps8	C	T	16: 21,461,142	T281M	probably damaging	Het
Wdfy3	A	G	5: 101,919,409	V1219A	probably benign	Het
Wnt9b	A	G	11: 103,730,812	C340R	probably damaging	Het
Zfhx3	T	C	8: 108,794,142	V632A	probably benign	Het
Zfp341	A	T	2: 154,638,212	T528S	probably benign	Het
Zfp990	G	A	4: 145,534,882	A33T	probably damaging	Het
Zranb1	T	G	7: 132,982,729	S601R	probably damaging	Het
Zyx	A	T	6: 42,351,355	K166I	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
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
R7131:Kmt2d	UTSW	15	98849616	unclassified	probably benign
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'- CCCCACCAGACAGATGTAGT -3'
(R):5'- ATGGGCTTCTAATTGACTCCCTG -3'

Sequencing Primer
(F):5'- CTCACCTTGCTGTTGACA -3'
(R):5'- GACCTGAGTTTAAATCCCTGGGAC -3'

Posted On

2014-08-01