Mutagenetix > Incidental Mutation

Incidental Mutation 'R1808:Kmt2d'

203634

Institutional Source

Beutler Lab

Gene Symbol

Kmt2d

Ensembl Gene

ENSMUSG00000048154

Gene Name

lysine (K)-specific methyltransferase 2D

Synonyms

Mll2, C430014K11Rik, Mll4

MMRRC Submission

039837-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98831669-98871204 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98866686 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 12 (D12G)

Ref Sequence

ENSEMBL: ENSMUSP00000135941 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000023741
AA Change: D12G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023741
Gene: ENSMUSG00000048154
AA Change: D12G

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 damaging
Transcript: ENSMUST00000178486
AA Change: D12G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135941
Gene: ENSMUSG00000048154
AA Change: D12G

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	G	T	5: 146,184,881	Y69*	probably null	Het
2310011J03Rik	A	G	10: 80,320,181		probably null	Het
A2ml1	A	C	6: 128,543,299	D1367E	probably damaging	Het
Adam6a	C	G	12: 113,544,714	L236V	probably benign	Het
Arf3	T	C	15: 98,741,073	N101S	probably benign	Het
Arhgap42	T	C	9: 9,180,050	E76G	probably damaging	Het
Atp2a1	A	G	7: 126,453,401	F382S	probably damaging	Het
Bud13	T	A	9: 46,288,407	F355L	probably benign	Het
C2	G	A	17: 34,864,532	P349S	probably damaging	Het
Cbl	C	A	9: 44,164,229	G373V	probably damaging	Het
Ccdc3	T	A	2: 5,138,085	L51Q	probably damaging	Het
Ccdc34	T	A	2: 110,044,256	M320K	probably benign	Het
Cntln	A	G	4: 85,096,763	E1097G	probably damaging	Het
Ctsc	A	C	7: 88,299,542	K195Q	possibly damaging	Het
Ctsf	C	T	19: 4,856,534	P163L	probably benign	Het
Dcxr	A	T	11: 120,725,612		probably null	Het
Dgki	T	C	6: 37,149,574	E157G	possibly damaging	Het
Dnah8	T	C	17: 30,684,186	L933P	probably damaging	Het
Dtna	T	C	18: 23,569,640	L76P	probably damaging	Het
Fcgbp	T	A	7: 28,085,090	C192S	probably benign	Het
Galnt5	T	A	2: 58,026,125	D683E	probably benign	Het
Greb1l	G	A	18: 10,542,143	A1297T	probably benign	Het
Grik4	T	C	9: 42,629,026	N286S	probably benign	Het
Hrc	A	T	7: 45,336,778	E451V	probably damaging	Het
Hrh3	G	A	2: 180,099,784		probably benign	Het
Ints13	A	G	6: 146,554,197	I152T	probably damaging	Het
Irgm1	A	T	11: 48,866,432	V184D	probably damaging	Het
Itga5	C	T	15: 103,350,399	A791T	probably damaging	Het
Kcp	T	C	6: 29,505,655	T73A	probably benign	Het
Kidins220	A	G	12: 25,003,009	T433A	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Mms19	A	G	19: 41,966,259	S74P	probably damaging	Het
Myh1	G	T	11: 67,211,474	E864*	probably null	Het
Nek1	A	G	8: 61,016,230	D107G	probably damaging	Het
Npc1	T	C	18: 12,194,092	N1149D	probably damaging	Het
Olfr127	T	A	17: 37,903,770	S75T	probably damaging	Het
Olfr1280	T	C	2: 111,315,998	V173A	probably benign	Het
Olfr401	C	A	11: 74,121,431	S47R	probably damaging	Het
Olfr507	A	C	7: 108,622,610	K266T	possibly damaging	Het
Osbp	T	C	19: 11,970,778	S150P	probably damaging	Het
Paf1	T	C	7: 28,396,822	Y287H	probably damaging	Het
Pdgfrb	T	C	18: 61,068,102	V420A	probably benign	Het
Pdss1	G	T	2: 22,906,834	E120*	probably null	Het
Pink1	A	T	4: 138,317,319	V339E	probably damaging	Het
Pkn3	C	T	2: 30,079,651	R58C	probably damaging	Het
Pm20d1	G	A	1: 131,802,427	V235I	probably benign	Het
Ppp2r2a	A	G	14: 67,038,963	I31T	probably damaging	Het
Rbms3	T	C	9: 116,822,826	E152G	probably damaging	Het
Rfx1	A	C	8: 84,095,048	Q804H	probably damaging	Het
Rpe	G	T	1: 66,715,197	V143L	probably benign	Het
Sap30l	G	T	11: 57,809,945	V142L	probably benign	Het
Sh3tc1	T	C	5: 35,705,924	Q973R	probably benign	Het
Slc10a2	T	C	8: 5,104,856	T110A	probably damaging	Het
Snrnp200	A	T	2: 127,219,027		probably null	Het
Snrnp200	G	A	2: 127,219,028		probably null	Het
Spaca3	T	A	11: 80,867,685	V158E	probably damaging	Het
Sprtn	C	A	8: 124,903,031	N354K	probably benign	Het
Stab1	T	A	14: 31,141,144	Y2166F	possibly damaging	Het
Tmem106c	G	A	15: 97,968,667		probably null	Het
Tnc	A	G	4: 63,999,931	S1248P	probably damaging	Het
Tshr	T	C	12: 91,537,316	F343L	probably benign	Het
Ttn	C	A	2: 76,725,354	A30436S	probably damaging	Het
Ubxn2a	A	T	12: 4,885,839	M68K	probably benign	Het
Ucp2	T	C	7: 100,498,814	V238A	probably damaging	Het
Urgcp	C	A	11: 5,717,242	L365F	probably damaging	Het
Vezt	A	T	10: 93,990,164	D328E	probably damaging	Het
Vmn1r168	G	T	7: 23,540,759	V14L	probably benign	Het
Vps13b	T	C	15: 35,792,059	F2158L	probably benign	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
R1822:Kmt2d	UTSW	15	98861780	missense	unknown
R1831:Kmt2d	UTSW	15	98855343	missense	probably damaging	0.97
R1920:Kmt2d	UTSW	15	98855590	missense	probably damaging	0.96
R1920:Kmt2d	UTSW	15	98855591	missense	probably damaging	1.00
R1956:Kmt2d	UTSW	15	98859590	unclassified	probably benign
R2100:Kmt2d	UTSW	15	98846480	unclassified	probably benign
R2120:Kmt2d	UTSW	15	98839529	unclassified	probably benign
R2188:Kmt2d	UTSW	15	98839300	unclassified	probably benign
R2191:Kmt2d	UTSW	15	98861049	critical splice donor site	probably null
R2234:Kmt2d	UTSW	15	98865248	missense	probably damaging	0.98
R2422:Kmt2d	UTSW	15	98862266	missense	unknown
R2762:Kmt2d	UTSW	15	98852055	unclassified	probably benign
R2895:Kmt2d	UTSW	15	98843939	unclassified	probably benign
R3624:Kmt2d	UTSW	15	98842902	unclassified	probably benign
R3791:Kmt2d	UTSW	15	98844149	unclassified	probably benign
R3794:Kmt2d	UTSW	15	98837359	unclassified	probably benign
R3871:Kmt2d	UTSW	15	98851021	unclassified	probably benign
R3958:Kmt2d	UTSW	15	98855549	missense	possibly damaging	0.69
R3983:Kmt2d	UTSW	15	98846046	unclassified	probably benign
R4211:Kmt2d	UTSW	15	98840189	unclassified	probably benign
R4212:Kmt2d	UTSW	15	98845003	unclassified	probably benign
R4240:Kmt2d	UTSW	15	98844571	unclassified	probably benign
R4246:Kmt2d	UTSW	15	98840089	unclassified	probably benign
R4361:Kmt2d	UTSW	15	98863670	missense	unknown
R4388:Kmt2d	UTSW	15	98853626	unclassified	probably benign
R4602:Kmt2d	UTSW	15	98850259	unclassified	probably benign
R4606:Kmt2d	UTSW	15	98839716	unclassified	probably benign
R4658:Kmt2d	UTSW	15	98852529	unclassified	probably benign
R4840:Kmt2d	UTSW	15	98861894	missense	unknown
R4895:Kmt2d	UTSW	15	98844487	unclassified	probably benign
R4906:Kmt2d	UTSW	15	98849539	unclassified	probably benign
R4976:Kmt2d	UTSW	15	98847194	utr 3 prime	probably benign
R5093:Kmt2d	UTSW	15	98856162	missense	probably damaging	1.00
R5119:Kmt2d	UTSW	15	98847194	utr 3 prime	probably benign
R5160:Kmt2d	UTSW	15	98840224	unclassified	probably benign
R5260:Kmt2d	UTSW	15	98842860	unclassified	probably benign
R5274:Kmt2d	UTSW	15	98854230	unclassified	probably benign
R5450:Kmt2d	UTSW	15	98855086	missense	probably damaging	1.00
R5461:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5462:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5463:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5465:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5467:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5481:Kmt2d	UTSW	15	98862005	missense	unknown
R5509:Kmt2d	UTSW	15	98839676	unclassified	probably benign
R5534:Kmt2d	UTSW	15	98837357	unclassified	probably benign
R5536:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5537:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5538:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5546:Kmt2d	UTSW	15	98853068	unclassified	probably benign
R5595:Kmt2d	UTSW	15	98850024	unclassified	probably benign
R5645:Kmt2d	UTSW	15	98844397	unclassified	probably benign
R5679:Kmt2d	UTSW	15	98854272	unclassified	probably benign
R5710:Kmt2d	UTSW	15	98854106	unclassified	probably benign
R5755:Kmt2d	UTSW	15	98863646	missense	unknown
R5817:Kmt2d	UTSW	15	98862363	missense	unknown
R5841:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5842:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5843:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5844:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R5845:Kmt2d	UTSW	15	98852109	unclassified	probably benign
R6122:Kmt2d	UTSW	15	98860692	unclassified	probably benign
R6612:Kmt2d	UTSW	15	98845858	unclassified	probably benign
R6718:Kmt2d	UTSW	15	98849586	unclassified	probably benign
R6718:Kmt2d	UTSW	15	98850539	unclassified	probably benign
R6822:Kmt2d	UTSW	15	98849459	unclassified	probably benign
R6866:Kmt2d	UTSW	15	98857393	unclassified	probably benign
R6950:Kmt2d	UTSW	15	98840020	unclassified	probably benign
R7089:Kmt2d	UTSW	15	98850272	missense	unknown
R7120:Kmt2d	UTSW	15	98861065	missense	unknown
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'- TCCATCAGCTGAATGAACAGAC -3'
(R):5'- AGTCACTACAACAGAGGCTTG -3'

Sequencing Primer
(F):5'- CAGGAGATGGCATTTAAATGTTTGTC -3'
(R):5'- GTCACTACAACAGAGGCTTGTAGAC -3'

Posted On

2014-06-23