Mutagenetix > Incidental Mutations

Incidental Mutation 'R1711:Kmt2a'

190583

Institutional Source

Beutler Lab

Gene Symbol

Kmt2a

Ensembl Gene

ENSMUSG00000002028

Gene Name

lysine (K)-specific methyltransferase 2A

Synonyms

Mll1, HTRX1, ALL-1, Cxxc7, trithorax Drosophila, Mll, All1

MMRRC Submission

039744-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1711 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44803355-44881296 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44841621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1419 (I1419T)

Ref Sequence

ENSEMBL: ENSMUSP00000122541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002095] [ENSMUST00000114689] [ENSMUST00000128768]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000002095
AA Change: I1386T

SMART Domains

Protein: ENSMUSP00000002095
Gene: ENSMUSG00000002028
AA Change: I1386T

Domain	Start	End	E-Value	Type
low complexity region	14	29	N/A	INTRINSIC
low complexity region	41	102	N/A	INTRINSIC
PDB:3U88\|N	103	151	6e-15	PDB
AT_hook	171	183	2.12e2	SMART
AT_hook	217	229	4.68e1	SMART
AT_hook	298	310	2.8e0	SMART
coiled coil region	366	394	N/A	INTRINSIC
low complexity region	450	489	N/A	INTRINSIC
low complexity region	524	535	N/A	INTRINSIC
low complexity region	544	574	N/A	INTRINSIC
low complexity region	589	601	N/A	INTRINSIC
low complexity region	660	674	N/A	INTRINSIC
low complexity region	717	732	N/A	INTRINSIC
low complexity region	760	790	N/A	INTRINSIC
low complexity region	866	892	N/A	INTRINSIC
low complexity region	989	1005	N/A	INTRINSIC
Pfam:zf-CXXC	1144	1191	1.1e-15	PFAM
low complexity region	1204	1233	N/A	INTRINSIC
low complexity region	1236	1283	N/A	INTRINSIC
low complexity region	1295	1316	N/A	INTRINSIC
low complexity region	1323	1345	N/A	INTRINSIC
low complexity region	1353	1366	N/A	INTRINSIC
PHD	1432	1479	5.57e-3	SMART
PHD	1480	1530	1.17e-10	SMART
PHD	1567	1624	7.94e-8	SMART
BROMO	1632	1766	2.24e-10	SMART
low complexity region	1816	1850	N/A	INTRINSIC
PHD	1931	1977	1.74e-4	SMART
low complexity region	1990	2001	N/A	INTRINSIC
FYRN	2029	2072	2.33e-20	SMART
low complexity region	2180	2194	N/A	INTRINSIC
low complexity region	2215	2227	N/A	INTRINSIC
low complexity region	2607	2618	N/A	INTRINSIC
low complexity region	2789	2800	N/A	INTRINSIC
low complexity region	2824	2833	N/A	INTRINSIC
low complexity region	2856	2878	N/A	INTRINSIC
low complexity region	2902	2909	N/A	INTRINSIC
low complexity region	3115	3141	N/A	INTRINSIC
low complexity region	3164	3175	N/A	INTRINSIC
low complexity region	3228	3239	N/A	INTRINSIC
low complexity region	3299	3312	N/A	INTRINSIC
low complexity region	3342	3351	N/A	INTRINSIC
low complexity region	3405	3419	N/A	INTRINSIC
low complexity region	3498	3526	N/A	INTRINSIC
low complexity region	3620	3633	N/A	INTRINSIC
FYRC	3662	3747	8.54e-37	SMART
SET	3823	3945	6.09e-45	SMART
PostSET	3947	3963	1.65e-4	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000114689
AA Change: I1386T

SMART Domains

Protein: ENSMUSP00000110337
Gene: ENSMUSG00000002028
AA Change: I1386T

Domain	Start	End	E-Value	Type
low complexity region	14	29	N/A	INTRINSIC
low complexity region	41	102	N/A	INTRINSIC
PDB:3U88\|N	103	151	6e-15	PDB
AT_hook	171	183	2.12e2	SMART
AT_hook	217	229	4.68e1	SMART
AT_hook	298	310	2.8e0	SMART
coiled coil region	366	394	N/A	INTRINSIC
low complexity region	450	489	N/A	INTRINSIC
low complexity region	524	535	N/A	INTRINSIC
low complexity region	544	574	N/A	INTRINSIC
low complexity region	589	601	N/A	INTRINSIC
low complexity region	660	674	N/A	INTRINSIC
low complexity region	717	732	N/A	INTRINSIC
low complexity region	760	790	N/A	INTRINSIC
low complexity region	866	892	N/A	INTRINSIC
low complexity region	989	1005	N/A	INTRINSIC
Pfam:zf-CXXC	1144	1191	1.1e-15	PFAM
low complexity region	1204	1233	N/A	INTRINSIC
low complexity region	1236	1283	N/A	INTRINSIC
low complexity region	1295	1316	N/A	INTRINSIC
low complexity region	1323	1345	N/A	INTRINSIC
low complexity region	1353	1366	N/A	INTRINSIC
PHD	1432	1479	5.57e-3	SMART
PHD	1480	1530	1.17e-10	SMART
PHD	1567	1627	9.12e-8	SMART
BROMO	1635	1769	2.24e-10	SMART
low complexity region	1819	1853	N/A	INTRINSIC
PHD	1934	1980	1.74e-4	SMART
low complexity region	1993	2004	N/A	INTRINSIC
FYRN	2032	2075	2.33e-20	SMART
low complexity region	2183	2197	N/A	INTRINSIC
low complexity region	2218	2230	N/A	INTRINSIC
low complexity region	2610	2621	N/A	INTRINSIC
low complexity region	2792	2803	N/A	INTRINSIC
low complexity region	2827	2836	N/A	INTRINSIC
low complexity region	2859	2881	N/A	INTRINSIC
low complexity region	2905	2912	N/A	INTRINSIC
low complexity region	3118	3144	N/A	INTRINSIC
low complexity region	3167	3178	N/A	INTRINSIC
low complexity region	3231	3242	N/A	INTRINSIC
low complexity region	3302	3315	N/A	INTRINSIC
low complexity region	3345	3354	N/A	INTRINSIC
low complexity region	3408	3422	N/A	INTRINSIC
low complexity region	3501	3529	N/A	INTRINSIC
low complexity region	3623	3636	N/A	INTRINSIC
FYRC	3665	3750	8.54e-37	SMART
SET	3826	3948	6.09e-45	SMART
PostSET	3950	3966	1.65e-4	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000128768
AA Change: I1419T

SMART Domains

Protein: ENSMUSP00000122541
Gene: ENSMUSG00000002028
AA Change: I1419T

Domain	Start	End	E-Value	Type
low complexity region	14	29	N/A	INTRINSIC
SCOP:d1gkub1	59	105	6e-3	SMART
PDB:3U88\|N	103	131	2e-10	PDB
low complexity region	132	142	N/A	INTRINSIC
AT_hook	204	216	2.12e2	SMART
AT_hook	250	262	4.68e1	SMART
AT_hook	331	343	2.8e0	SMART
coiled coil region	399	427	N/A	INTRINSIC
low complexity region	483	522	N/A	INTRINSIC
low complexity region	557	568	N/A	INTRINSIC
low complexity region	577	607	N/A	INTRINSIC
low complexity region	622	634	N/A	INTRINSIC
low complexity region	693	707	N/A	INTRINSIC
low complexity region	750	765	N/A	INTRINSIC
low complexity region	793	823	N/A	INTRINSIC
low complexity region	899	925	N/A	INTRINSIC
low complexity region	1022	1038	N/A	INTRINSIC
Pfam:zf-CXXC	1177	1224	2.4e-16	PFAM
low complexity region	1237	1266	N/A	INTRINSIC
low complexity region	1269	1316	N/A	INTRINSIC
Blast:BROMO	1317	1438	3e-14	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000152241
AA Change: I597T

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
PHENOTYPE: Homozygotes for targeted null mutations die at embryonic day 11.5-14.5 with edematous bodies, petechiae, and hematopoietic insufficiency. Heterozygotes show reduced growth, hematopoietic abnormalities, and homeotic transformations of the axial skeleton. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,269,920	T741I	possibly damaging	Het
Acot3	A	T	12: 84,053,573	Q41L	probably damaging	Het
Actl7b	G	A	4: 56,740,165	Q398*	probably null	Het
Adgrb2	C	A	4: 129,992,624	Q186K	probably damaging	Het
Akr1a1	A	G	4: 116,637,974		probably null	Het
Ap3s2	A	T	7: 79,880,490	F192L	probably damaging	Het
Apobr	T	G	7: 126,584,979		probably null	Het
Arhgap5	A	G	12: 52,519,345	N1033S	probably damaging	Het
Arid3c	G	T	4: 41,725,947	R219S	probably damaging	Het
Bves	C	T	10: 45,347,865	T207M	probably damaging	Het
C330027C09Rik	A	C	16: 49,017,486	I850L	probably benign	Het
Cacna1d	T	C	14: 30,066,056	K1619R	probably damaging	Het
Caps2	A	T	10: 112,190,978	D223V	possibly damaging	Het
Cd163l1	G	T	7: 140,220,609	C101F	probably damaging	Het
Cd3g	A	C	9: 44,974,342	L35R	probably damaging	Het
Cdh23	A	T	10: 60,523,536	V261E	probably benign	Het
Cfap54	T	G	10: 93,011,020	T1028P	probably damaging	Het
Ch25h	C	A	19: 34,474,286	V281L	probably benign	Het
Clu	G	T	14: 65,980,905	V405L	possibly damaging	Het
Col6a3	A	T	1: 90,830,213	H6Q	probably damaging	Het
Cps1	G	A	1: 67,168,374		probably null	Het
Ctr9	T	C	7: 111,055,663	S1134P	unknown	Het
Cts7	C	T	13: 61,352,810	G308S	probably damaging	Het
Cyp2c39	C	A	19: 39,566,891	T385K	probably damaging	Het
Dennd5a	A	T	7: 109,918,712	D596E	probably benign	Het
Disc1	T	A	8: 125,124,610	I413K	probably benign	Het
Dll3	C	T	7: 28,294,497	G505D	probably damaging	Het
Dnah3	A	G	7: 120,078,571	W377R	probably damaging	Het
Dopey2	A	G	16: 93,799,926	D1792G	probably damaging	Het
Dpep3	T	A	8: 105,973,693	R460S	probably benign	Het
Ebf4	A	G	2: 130,358,831	N302S	probably damaging	Het
Egflam	T	C	15: 7,289,915	E194G	possibly damaging	Het
Ep400	A	T	5: 110,693,308		probably benign	Het
Ercc6	T	C	14: 32,526,176	M228T	probably damaging	Het
Fbxo9	T	C	9: 78,087,247	T264A	probably damaging	Het
Fcrl5	C	A	3: 87,457,414	P486T	possibly damaging	Het
Fyb	T	C	15: 6,580,479	F178L	probably damaging	Het
Gaa	T	A	11: 119,280,460	I646N	probably damaging	Het
Gm11639	A	G	11: 104,720,688	K452R	probably benign	Het
Gm13124	A	T	4: 144,555,406	I272K	probably damaging	Het
Gm5431	A	T	11: 48,895,026	V174E	possibly damaging	Het
Gnpat	T	G	8: 124,886,952		probably null	Het
Gucy1a2	G	T	9: 3,759,622	R476I	probably benign	Het
Hars	A	G	18: 36,771,103	L241P	probably damaging	Het
Haus5	G	A	7: 30,657,903	Q399*	probably null	Het
Hephl1	T	C	9: 15,059,246	E984G	probably damaging	Het
Hmces	C	T	6: 87,921,592	Q132*	probably null	Het
Hsp90b1	G	T	10: 86,694,525	T490K	probably damaging	Het
Idh2	T	G	7: 80,099,158	E125A	probably damaging	Het
Ipo13	G	T	4: 117,904,522	H465Q	probably benign	Het
Isca2	C	A	12: 84,773,619	T31K	probably damaging	Het
Itga9	T	C	9: 118,698,461	V560A	probably benign	Het
Jhy	G	A	9: 40,911,157	Q562*	probably null	Het
Kcnj5	A	G	9: 32,322,569	I150T	probably damaging	Het
Lix1	T	C	17: 17,446,058	F160L	possibly damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Map4k1	A	T	7: 28,989,352	Q276L	possibly damaging	Het
Mmp9	G	A	2: 164,949,422	G171S	probably damaging	Het
Mvp	C	A	7: 126,995,735		probably null	Het
Mylk3	T	A	8: 85,364,831	E115V	probably damaging	Het
Nebl	T	A	2: 17,388,754	T603S	probably damaging	Het
Nudt15	T	C	14: 73,523,336	D105G	probably benign	Het
Olfr1369-ps1	G	A	13: 21,116,306	V205I	probably benign	Het
Olfr527	A	C	7: 140,335,999	T46P	possibly damaging	Het
Olfr556	G	T	7: 102,670,162	V81L	probably damaging	Het
Olfr65	T	A	7: 103,906,699	W87R	probably damaging	Het
Olfr685	A	T	7: 105,180,760	H199Q	probably damaging	Het
Olfr971	A	G	9: 39,840,285	M284V	probably benign	Het
Osbpl9	A	T	4: 109,066,218	C495S	probably damaging	Het
Pamr1	A	G	2: 102,640,852	T507A	probably benign	Het
Pcdhb9	T	A	18: 37,403,327	C791*	probably null	Het
Pcgf6	T	C	19: 47,050,518	E101G	probably damaging	Het
Pdgfrl	A	T	8: 40,985,794	I256F	probably benign	Het
Pdzd7	T	C	19: 45,045,511	R45G	possibly damaging	Het
Pecr	C	T	1: 72,277,409	V46I	possibly damaging	Het
Pgr	A	G	9: 8,922,714		probably null	Het
Pik3c2a	A	T	7: 116,417,927	Y198*	probably null	Het
Pp2d1	T	A	17: 53,515,310	M243L	possibly damaging	Het
Ppp1r1a	T	A	15: 103,533,492	I50L	possibly damaging	Het
Proc	T	C	18: 32,127,406	D222G	probably benign	Het
Ptprq	T	A	10: 107,534,699	R2044*	probably null	Het
Ranbp2	T	C	10: 58,460,519	V326A	probably benign	Het
Reep6	T	A	10: 80,333,981	F122I	possibly damaging	Het
Rubcn	C	A	16: 32,843,101	R388S	probably damaging	Het
Rusc1	A	G	3: 89,089,293	L62P	probably damaging	Het
Satb2	T	C	1: 56,850,289	N423S	probably damaging	Het
Serpinb9d	A	G	13: 33,200,748	K236R	probably benign	Het
Slc4a7	A	G	14: 14,765,709	R680G	probably benign	Het
Slitrk1	T	A	14: 108,913,096	Y61F	probably benign	Het
Son	A	G	16: 91,660,226		probably benign	Het
Sparc	T	A	11: 55,395,776		probably null	Het
Spon2	A	G	5: 33,216,385	F194S	probably damaging	Het
Spta1	A	G	1: 174,241,042	E2136G	probably damaging	Het
Stat4	T	C	1: 52,106,925	S746P	probably damaging	Het
Stk31	T	A	6: 49,469,304	S958R	probably benign	Het
Stom	T	A	2: 35,315,917	I267F	probably damaging	Het
Stx12	A	T	4: 132,858,477	D197E	probably damaging	Het
Taok3	A	T	5: 117,255,926	N588I	possibly damaging	Het
Tgs1	A	G	4: 3,598,658	D657G	probably damaging	Het
Trim6	A	G	7: 104,232,837	T432A	probably damaging	Het
Trim72	C	G	7: 128,004,585	C34W	probably damaging	Het
Trpc4ap	A	T	2: 155,657,744	I286N	probably benign	Het
Ttn	A	G	2: 76,863,561	V321A	possibly damaging	Het
Utp4	T	A	8: 106,918,720	I583N	probably damaging	Het
Wdfy2	G	T	14: 62,944,097	M225I	probably benign	Het
Wfdc1	A	G	8: 119,681,037	T134A	probably benign	Het
Wnt9b	A	G	11: 103,732,128	S150P	probably damaging	Het
Zbtb46	A	T	2: 181,411,684	F412I	probably damaging	Het
Zc3h15	G	A	2: 83,661,148	R240H	probably benign	Het
Zfp11	A	T	5: 129,656,673	Y575N	probably benign	Het
Zfp687	T	C	3: 95,011,889	M191V	probably benign	Het

Other mutations in Kmt2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Kmt2a	APN	9	44807934	unclassified	probably benign
IGL00667:Kmt2a	APN	9	44824386	utr 3 prime	probably benign
IGL00828:Kmt2a	APN	9	44820776	unclassified	probably benign
IGL01080:Kmt2a	APN	9	44809092	missense	unknown
IGL01131:Kmt2a	APN	9	44821170	unclassified	probably benign
IGL01294:Kmt2a	APN	9	44820297	unclassified	probably benign
IGL01432:Kmt2a	APN	9	44809096	missense	unknown
IGL01646:Kmt2a	APN	9	44825484	utr 3 prime	probably benign
IGL01777:Kmt2a	APN	9	44849005	missense	probably damaging	0.99
IGL01944:Kmt2a	APN	9	44849767	missense	probably damaging	1.00
IGL02125:Kmt2a	APN	9	44848686	missense	probably damaging	1.00
IGL02207:Kmt2a	APN	9	44847682	missense	probably damaging	0.98
IGL02424:Kmt2a	APN	9	44824635	utr 3 prime	probably benign
IGL02499:Kmt2a	APN	9	44830509	splice site	probably benign
IGL02574:Kmt2a	APN	9	44830513	splice site	probably benign
IGL02711:Kmt2a	APN	9	44824523	splice site	probably benign
IGL02828:Kmt2a	APN	9	44821947	unclassified	probably benign
IGL03012:Kmt2a	APN	9	44810966	unclassified	probably benign
IGL03242:Kmt2a	APN	9	44848392	missense	probably damaging	0.99
IGL03294:Kmt2a	APN	9	44820565	unclassified	probably benign
IGL03326:Kmt2a	APN	9	44818747	nonsense	probably null
Chromas	UTSW	9	44820342	unclassified	probably benign
Heteros	UTSW	9	44828811	nonsense	probably null
Pyknos	UTSW	9	44826828	utr 3 prime	probably benign
R5065_Kmt2a_295	UTSW	9	44842700	unclassified	probably benign
Skies	UTSW	9	44829261	utr 3 prime	probably benign
spacious	UTSW	9	44847645	missense	probably benign	0.03
Uranium	UTSW	9	44849857	nonsense	probably null
PIT4402001:Kmt2a	UTSW	9	44841062	missense	unknown
R0076:Kmt2a	UTSW	9	44830059	utr 3 prime	probably benign
R0076:Kmt2a	UTSW	9	44830059	utr 3 prime	probably benign
R0180:Kmt2a	UTSW	9	44826851	utr 3 prime	probably benign
R0363:Kmt2a	UTSW	9	44809713	critical splice donor site	probably null
R0411:Kmt2a	UTSW	9	44819964	unclassified	probably benign
R0555:Kmt2a	UTSW	9	44847571	missense	probably damaging	1.00
R0587:Kmt2a	UTSW	9	44847534	missense	probably damaging	0.99
R0865:Kmt2a	UTSW	9	44818770	unclassified	probably benign
R0988:Kmt2a	UTSW	9	44848549	missense	probably benign	0.03
R1006:Kmt2a	UTSW	9	44847696	missense	probably damaging	0.99
R1108:Kmt2a	UTSW	9	44849062	missense	probably damaging	1.00
R1292:Kmt2a	UTSW	9	44814694	utr 3 prime	probably benign
R1322:Kmt2a	UTSW	9	44821121	unclassified	probably benign
R1476:Kmt2a	UTSW	9	44824635	utr 3 prime	probably benign
R1485:Kmt2a	UTSW	9	44826928	utr 3 prime	probably benign
R1487:Kmt2a	UTSW	9	44833990	utr 3 prime	probably benign
R1493:Kmt2a	UTSW	9	44846905	missense	probably damaging	1.00
R1499:Kmt2a	UTSW	9	44848266	missense	probably benign	0.36
R1507:Kmt2a	UTSW	9	44818403	unclassified	probably benign
R1603:Kmt2a	UTSW	9	44841561	splice site	probably null
R1635:Kmt2a	UTSW	9	44824369	utr 3 prime	probably benign
R1662:Kmt2a	UTSW	9	44836670	utr 3 prime	probably benign
R1785:Kmt2a	UTSW	9	44819675	unclassified	probably benign
R1786:Kmt2a	UTSW	9	44819675	unclassified	probably benign
R1919:Kmt2a	UTSW	9	44820345	unclassified	probably benign
R1964:Kmt2a	UTSW	9	44820644	missense	probably benign	0.23
R1965:Kmt2a	UTSW	9	44821460	unclassified	probably benign
R2029:Kmt2a	UTSW	9	44818450	missense	probably benign	0.23
R2054:Kmt2a	UTSW	9	44823374	utr 3 prime	probably benign
R2259:Kmt2a	UTSW	9	44881142	unclassified	probably benign
R2382:Kmt2a	UTSW	9	44820910	unclassified	probably benign
R2483:Kmt2a	UTSW	9	44848966	missense	probably damaging	0.99
R3033:Kmt2a	UTSW	9	44821863	unclassified	probably benign
R3423:Kmt2a	UTSW	9	44820097	unclassified	probably benign
R3428:Kmt2a	UTSW	9	44848119	missense	probably benign	0.06
R3605:Kmt2a	UTSW	9	44849196	missense	probably damaging	1.00
R3607:Kmt2a	UTSW	9	44849196	missense	probably damaging	1.00
R3611:Kmt2a	UTSW	9	44822466	unclassified	probably benign
R3623:Kmt2a	UTSW	9	44848966	missense	probably damaging	0.99
R3745:Kmt2a	UTSW	9	44831340	utr 3 prime	probably benign
R3806:Kmt2a	UTSW	9	44820356	unclassified	probably benign
R3841:Kmt2a	UTSW	9	44831291	utr 3 prime	probably benign
R3855:Kmt2a	UTSW	9	44830499	utr 3 prime	probably benign
R4027:Kmt2a	UTSW	9	44836693	utr 3 prime	probably benign
R4124:Kmt2a	UTSW	9	44819796	unclassified	probably benign
R4177:Kmt2a	UTSW	9	44820983	unclassified	probably benign
R4296:Kmt2a	UTSW	9	44821175	unclassified	probably benign
R4414:Kmt2a	UTSW	9	44809780	unclassified	probably benign
R4461:Kmt2a	UTSW	9	44848966	missense	probably damaging	0.99
R4668:Kmt2a	UTSW	9	44824572	utr 3 prime	probably benign
R4761:Kmt2a	UTSW	9	44849124	missense	probably damaging	1.00
R4812:Kmt2a	UTSW	9	44831354	utr 3 prime	probably benign
R4815:Kmt2a	UTSW	9	44821256	unclassified	probably benign
R4817:Kmt2a	UTSW	9	44821466	unclassified	probably benign
R4888:Kmt2a	UTSW	9	44821680	unclassified	probably benign
R4958:Kmt2a	UTSW	9	44848467	missense	probably damaging	1.00
R5055:Kmt2a	UTSW	9	44818352	unclassified	probably benign
R5065:Kmt2a	UTSW	9	44842700	unclassified	probably benign
R5185:Kmt2a	UTSW	9	44820246	unclassified	probably benign
R5358:Kmt2a	UTSW	9	44819274	unclassified	probably benign
R5411:Kmt2a	UTSW	9	44848485	missense	probably damaging	1.00
R5420:Kmt2a	UTSW	9	44848336	missense	probably damaging	1.00
R5483:Kmt2a	UTSW	9	44824624	utr 3 prime	probably benign
R5487:Kmt2a	UTSW	9	44821975	unclassified	probably benign
R5488:Kmt2a	UTSW	9	44841038	utr 3 prime	probably benign
R5489:Kmt2a	UTSW	9	44841038	utr 3 prime	probably benign
R5538:Kmt2a	UTSW	9	44820342	unclassified	probably benign
R5576:Kmt2a	UTSW	9	44842634	missense	possibly damaging	0.94
R5631:Kmt2a	UTSW	9	44820688	unclassified	probably benign
R5781:Kmt2a	UTSW	9	44847842	nonsense	probably null
R5789:Kmt2a	UTSW	9	44819904	unclassified	probably benign
R5932:Kmt2a	UTSW	9	44820647	unclassified	probably benign
R6027:Kmt2a	UTSW	9	44819290	unclassified	probably benign
R6191:Kmt2a	UTSW	9	44826828	utr 3 prime	probably benign
R6239:Kmt2a	UTSW	9	44819796	unclassified	probably benign
R6291:Kmt2a	UTSW	9	44832874	utr 3 prime	probably benign
R6344:Kmt2a	UTSW	9	44821859	unclassified	probably benign
R6611:Kmt2a	UTSW	9	44849272	missense	probably damaging	0.98
R6641:Kmt2a	UTSW	9	44819835	unclassified	probably benign
R6651:Kmt2a	UTSW	9	44828811	nonsense	probably null
R6825:Kmt2a	UTSW	9	44818407	unclassified	probably benign
R6853:Kmt2a	UTSW	9	44818407	unclassified	probably benign
R6897:Kmt2a	UTSW	9	44847645	missense	probably benign	0.03
R6930:Kmt2a	UTSW	9	44842665	unclassified	probably benign
R6932:Kmt2a	UTSW	9	44829261	utr 3 prime	probably benign
R6957:Kmt2a	UTSW	9	44820022	unclassified	probably benign
R7170:Kmt2a	UTSW	9	44810721	missense	unknown
R7202:Kmt2a	UTSW	9	44847715	missense	probably benign	0.03
R7481:Kmt2a	UTSW	9	44809071	missense	unknown
R7538:Kmt2a	UTSW	9	44847744	missense	probably damaging	0.99
R7597:Kmt2a	UTSW	9	44831353	missense	unknown
R7741:Kmt2a	UTSW	9	44808062	missense	unknown
R7767:Kmt2a	UTSW	9	44818998	missense	unknown
R7768:Kmt2a	UTSW	9	44820603	missense	unknown
R7861:Kmt2a	UTSW	9	44818734	missense	unknown
R7894:Kmt2a	UTSW	9	44849857	nonsense	probably null
R7922:Kmt2a	UTSW	9	44842860	missense	unknown
R7943:Kmt2a	UTSW	9	44849140	missense	probably damaging	0.97
R7997:Kmt2a	UTSW	9	44833923	missense	unknown
R8033:Kmt2a	UTSW	9	44845470	missense	probably damaging	1.00
R8055:Kmt2a	UTSW	9	44821081	missense	unknown
R8139:Kmt2a	UTSW	9	44819290	unclassified	probably benign
R8156:Kmt2a	UTSW	9	44822389	missense	unknown
R8224:Kmt2a	UTSW	9	44808029	missense	unknown
R8427:Kmt2a	UTSW	9	44845423	missense	probably damaging	1.00
R8535:Kmt2a	UTSW	9	44819515	missense	possibly damaging	0.91
R8693:Kmt2a	UTSW	9	44810684	missense	unknown
R8757:Kmt2a	UTSW	9	44842913	missense	unknown
R8840:Kmt2a	UTSW	9	44809719	missense	unknown
R8933:Kmt2a	UTSW	9	44822505	unclassified	probably benign
R8998:Kmt2a	UTSW	9	44821877	missense	unknown
R9013:Kmt2a	UTSW	9	44849911	missense	probably damaging	0.97
R9053:Kmt2a	UTSW	9	44821419	missense	unknown
R9084:Kmt2a	UTSW	9	44828833	missense	unknown
R9146:Kmt2a	UTSW	9	44814641	nonsense	probably null
R9162:Kmt2a	UTSW	9	44848066	missense	probably benign	0.32
R9231:Kmt2a	UTSW	9	44848615	missense	probably damaging	0.99
R9250:Kmt2a	UTSW	9	44848386	missense	possibly damaging	0.82
R9262:Kmt2a	UTSW	9	44819925	missense	probably benign	0.23
R9323:Kmt2a	UTSW	9	44819964	unclassified	probably benign
R9472:Kmt2a	UTSW	9	44822156	missense	unknown
X0021:Kmt2a	UTSW	9	44831235	utr 3 prime	probably benign
X0025:Kmt2a	UTSW	9	44825392	nonsense	probably null
X0026:Kmt2a	UTSW	9	44820906	unclassified	probably benign
X0027:Kmt2a	UTSW	9	44880896	missense	possibly damaging	0.85
Z1176:Kmt2a	UTSW	9	44847979	missense	probably damaging	1.00
Z1177:Kmt2a	UTSW	9	44819121	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCTTTCCCACCAGTTCACAAACGG -3'
(R):5'- TCTGACAGCATCTGGCATGGTTTC -3'

Sequencing Primer
(F):5'- GAACCTGCCTGTTAGCTGGAG -3'
(R):5'- tcctcctacttccccatcc -3'

Posted On

2014-05-14