Mutagenetix > Incidental Mutations

Incidental Mutation 'R0555:Kmt2a'

45484

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

038747-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0555 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44803355-44881296 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44847571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 1027 (S1027C)

Ref Sequence

ENSEMBL: ENSMUSP00000122541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002095] [ENSMUST00000114689] [ENSMUST00000128768] [ENSMUST00000215489]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000002095
AA Change: S994C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000002095
Gene: ENSMUSG00000002028
AA Change: S994C

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

probably damaging
Transcript: ENSMUST00000114689
AA Change: S994C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110337
Gene: ENSMUSG00000002028
AA Change: S994C

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

probably damaging
Transcript: ENSMUST00000128768
AA Change: S1027C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122541
Gene: ENSMUSG00000002028
AA Change: S1027C

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: S205C

Predicted Effect

probably benign
Transcript: ENSMUST00000215489

Meta Mutation Damage Score

0.1354

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 93.8%

Validation Efficiency

100% (98/98)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	T	A	9: 70,754,234	I363N	probably damaging	Het
Ahcyl2	T	C	6: 29,890,671		probably benign	Het
Asap1	A	G	15: 64,094,364	L941P	probably damaging	Het
Aurka	G	A	2: 172,367,147	R23C	probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Casp8ap2	T	A	4: 32,640,381	H478Q	probably damaging	Het
Clcn4	C	T	7: 7,290,504	A418T	possibly damaging	Het
Cpxm2	A	T	7: 132,044,043	Y715*	probably null	Het
Csmd1	T	C	8: 16,185,273	M1179V	probably benign	Het
Ddx21	A	T	10: 62,587,528	F632I	probably damaging	Het
Dnaic1	C	A	4: 41,625,335	T433K	possibly damaging	Het
Dpyd	G	A	3: 119,431,542	G988D	probably damaging	Het
Dync1i2	AAAAGAAGAGGAAAGAAGAGGAAAG	AAAAGAAGAGGAAAG	2: 71,214,518		probably null	Het
Dync1li2	A	T	8: 104,420,665	S466T	probably benign	Het
Ears2	T	C	7: 122,048,444	T206A	probably benign	Het
Elmod1	A	T	9: 53,931,592		probably benign	Het
Eps8l3	C	A	3: 107,892,345	D590E	probably benign	Het
Etfdh	A	T	3: 79,605,805	H370Q	probably benign	Het
Fam83g	C	A	11: 61,707,663	A792E	probably benign	Het
Ffar3	G	T	7: 30,855,537	Y119*	probably null	Het
Fosb	G	T	7: 19,307,213	S118R	possibly damaging	Het
Foxn4	G	A	5: 114,263,114	L3F	probably damaging	Het
Foxo4	A	G	X: 101,255,178	K65E	probably damaging	Het
Frem2	A	G	3: 53,516,860	L3052P	probably damaging	Het
Fubp3	G	A	2: 31,608,137	R101H	probably damaging	Het
Gba2	C	A	4: 43,569,927	G429C	probably damaging	Het
Gimap1	T	C	6: 48,741,429		probably benign	Het
Gm17657	A	T	17: 29,519,571	F74I	probably benign	Het
Gnas	A	G	2: 174,298,511	T158A	possibly damaging	Het
Gpc5	T	C	14: 115,552,328	V538A	probably damaging	Het
Greb1l	T	C	18: 10,458,781		probably benign	Het
H2-M10.5	G	A	17: 36,774,728	G260R	probably damaging	Het
Hbs1l	A	C	10: 21,349,323	Q412H	probably benign	Het
Hecw1	G	T	13: 14,236,941	T1058N	probably damaging	Het
Heph	A	T	X: 96,558,084	T1027S	probably damaging	Het
Hoga1	A	C	19: 42,046,075	E53A	possibly damaging	Het
Insrr	T	G	3: 87,814,437		probably benign	Het
Ipo11	A	T	13: 106,892,461	V328D	probably damaging	Het
Jakmip1	T	C	5: 37,118,873	V509A	probably damaging	Het
Jmjd1c	T	C	10: 67,225,789	V1307A	probably benign	Het
Kprp	G	C	3: 92,824,357	P462R	unknown	Het
Lman1l	T	C	9: 57,614,101	T193A	probably benign	Het
Lrit3	A	T	3: 129,791,296	V271D	probably damaging	Het
Map4	T	A	9: 109,979,103		probably benign	Het
Mark4	A	C	7: 19,448,673		probably benign	Het
Mfsd14b	A	G	13: 65,078,445	V142A	probably benign	Het
Mis18bp1	A	T	12: 65,161,453	I162N	possibly damaging	Het
Mrpl43	A	T	19: 45,005,952		probably benign	Het
Mrpl47	A	G	3: 32,736,693	F16S	probably benign	Het
Myh2	G	T	11: 67,178,967	G380C	probably damaging	Het
Myo15	T	C	11: 60,521,638	Y3284H	probably damaging	Het
Nectin2	A	G	7: 19,733,223		probably benign	Het
Neu3	A	G	7: 99,814,183	V111A	probably damaging	Het
Nol4l	T	C	2: 153,417,684		probably null	Het
Nphp3	C	A	9: 104,023,434	H510Q	probably damaging	Het
Nprl3	T	A	11: 32,233,118		probably null	Het
Olfr292	A	G	7: 86,695,308	N284S	probably damaging	Het
Olfr48	T	C	2: 89,844,443	T177A	probably benign	Het
Olfr598	T	C	7: 103,328,963	V159A	probably benign	Het
Olfr791	T	C	10: 129,526,896	I223T	possibly damaging	Het
Pex1	A	G	5: 3,606,130	E319G	possibly damaging	Het
Phtf1	C	A	3: 104,004,469	T709K	probably damaging	Het
Plek2	A	T	12: 78,892,172	L271Q	probably damaging	Het
Plekhg5	T	A	4: 152,107,469	C421*	probably null	Het
Polk	A	C	13: 96,484,179	C525W	probably damaging	Het
Ppfibp2	T	C	7: 107,729,174	S471P	probably damaging	Het
Prickle2	A	T	6: 92,458,565	F74L	probably benign	Het
Prl7d1	A	T	13: 27,712,055	V113D	probably benign	Het
Prr14	C	T	7: 127,472,095		probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ret	A	G	6: 118,178,610	V375A	probably damaging	Het
Rora	T	C	9: 69,361,746	F41S	probably damaging	Het
Sall1	T	C	8: 89,031,758	T573A	probably benign	Het
Shb	A	G	4: 45,458,321	V281A	possibly damaging	Het
Slc25a26	A	T	6: 94,592,410		probably null	Het
Sltm	T	C	9: 70,586,081	F769L	probably damaging	Het
Snx9	T	A	17: 5,918,413	M328K	probably damaging	Het
Stk25	G	T	1: 93,624,591	Q356K	probably benign	Het
Svep1	T	A	4: 58,128,858	Y613F	possibly damaging	Het
Syne4	G	A	7: 30,316,744	A195T	probably damaging	Het
Tmem8	T	C	17: 26,117,114	L130S	probably benign	Het
Trcg1	C	T	9: 57,242,333	T396M	probably damaging	Het
Trim30b	A	G	7: 104,357,298	V117A	possibly damaging	Het
Trpc4	T	C	3: 54,302,090		probably benign	Het
Ttll4	A	G	1: 74,688,280	H827R	probably damaging	Het
Urgcp	T	C	11: 5,717,477	E287G	probably damaging	Het
Usp2	G	T	9: 44,092,784	L319F	probably damaging	Het
Vmn1r167	A	T	7: 23,505,087	V168D	probably damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r61	A	T	7: 42,266,018	I130F	probably benign	Het
Vmn2r63	A	T	7: 42,928,528	Y195*	probably null	Het
Vmn2r81	T	C	10: 79,293,449	S725P	probably damaging	Het
Wnt10b	A	G	15: 98,772,937		probably benign	Het
Zcchc6	A	G	13: 59,800,317	V328A	probably benign	Het
Zfp292	T	C	4: 34,807,194	E1950G	probably damaging	Het
Zfyve16	A	G	13: 92,516,520		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
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
R1711:Kmt2a	UTSW	9	44841621	missense	unknown
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
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'- AACTAATCCTAGCCGTTAGGCCGC -3'
(R):5'- TCCTGTGACTCTTGGGGACACAAC -3'

Sequencing Primer
(F):5'- ACCCTGGCTTTAACATGTGAG -3'
(R):5'- GAAAAAAACAACTTGGACCTCGG -3'

Posted On

2013-06-11