Mutagenetix > Incidental Mutation

Incidental Mutation 'R2029:Kmt2a'

220990

Institutional Source

Beutler Lab

Gene Symbol

Kmt2a

Ensembl Gene

ENSMUSG00000002028

Gene Name

lysine (K)-specific methyltransferase 2A

Synonyms

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

MMRRC Submission

040036-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2029 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44714652-44792594 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44729747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 3523 (S3523R)

Ref Sequence

ENSEMBL: ENSMUSP00000110337 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000002095
AA Change: S3520R

SMART Domains

Protein: ENSMUSP00000002095
Gene: ENSMUSG00000002028
AA Change: S3520R

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 benign
Transcript: ENSMUST00000114689
AA Change: S3523R

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110337
Gene: ENSMUSG00000002028
AA Change: S3523R

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: ENSMUST00000138119
AA Change: S555R

Predicted Effect

probably benign
Transcript: ENSMUST00000152241

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (97/99)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	G	8: 25,140,893 (GRCm39)	G286A	probably damaging	Het
Adcy1	G	A	11: 7,089,142 (GRCm39)	A519T	probably benign	Het
Anxa2	T	A	9: 69,371,762 (GRCm39)	S2T	possibly damaging	Het
Ap3m1	G	A	14: 21,089,217 (GRCm39)	S261L	possibly damaging	Het
Baz2b	A	T	2: 59,743,067 (GRCm39)		probably benign	Het
Brdt	T	A	5: 107,507,090 (GRCm39)	S497T	probably benign	Het
Cdh11	A	G	8: 103,406,404 (GRCm39)	F23S	probably benign	Het
Cdh16	A	C	8: 105,344,434 (GRCm39)	L540R	probably damaging	Het
Ces5a	A	T	8: 94,261,205 (GRCm39)	L74Q	probably damaging	Het
Cfap69	A	G	5: 5,654,306 (GRCm39)	S543P	probably damaging	Het
Cfap74	T	C	4: 155,526,538 (GRCm39)	I763T	possibly damaging	Het
Cma1	T	A	14: 56,181,191 (GRCm39)	R58S	possibly damaging	Het
Csmd3	C	T	15: 47,701,975 (GRCm39)	D1599N	probably damaging	Het
Cyld	A	G	8: 89,471,940 (GRCm39)	K857R	probably benign	Het
Cyp3a16	T	C	5: 145,388,667 (GRCm39)	D270G	probably damaging	Het
D1Pas1	T	C	1: 186,700,286 (GRCm39)	S72P	possibly damaging	Het
Ddx3y	T	C	Y: 1,266,389 (GRCm39)	E331G	probably benign	Het
Degs1l	T	A	1: 180,882,496 (GRCm39)	I86K	probably benign	Het
Dis3l2	T	C	1: 86,782,189 (GRCm39)		probably benign	Het
Dop1a	G	T	9: 86,403,418 (GRCm39)	W1539C	probably damaging	Het
Dop1b	A	G	16: 93,566,323 (GRCm39)	K917E	probably benign	Het
Ecpas	G	A	4: 58,844,165 (GRCm39)	R534*	probably null	Het
Efcab3	T	C	11: 104,990,851 (GRCm39)	I5462T	probably damaging	Het
Eif1ad15	A	T	12: 88,288,191 (GRCm39)	S21T	unknown	Het
Epo	A	G	5: 137,483,447 (GRCm39)		probably benign	Het
Figla	T	A	6: 85,997,624 (GRCm39)		probably benign	Het
Flvcr1	T	C	1: 190,753,353 (GRCm39)	D273G	probably benign	Het
Fryl	T	A	5: 73,179,465 (GRCm39)	R304*	probably null	Het
Gcm1	T	G	9: 77,972,326 (GRCm39)	D422E	possibly damaging	Het
Get3	A	T	8: 85,746,403 (GRCm39)	Y148*	probably null	Het
Ggt6	A	G	11: 72,328,367 (GRCm39)	D251G	possibly damaging	Het
Git2	A	G	5: 114,904,511 (GRCm39)		probably null	Het
Gm18856	A	T	13: 14,139,376 (GRCm39)		probably benign	Het
Gm20939	T	A	17: 95,183,252 (GRCm39)		probably benign	Het
Gpr176	A	G	2: 118,109,913 (GRCm39)	Y449H	probably benign	Het
H2-Eb1	A	G	17: 34,533,366 (GRCm39)	E196G	probably damaging	Het
H2-M10.6	A	G	17: 37,124,799 (GRCm39)	T239A	possibly damaging	Het
Haus5	T	C	7: 30,358,825 (GRCm39)	N237S	possibly damaging	Het
Hectd3	T	C	4: 116,857,882 (GRCm39)	M605T	probably damaging	Het
Hps3	T	C	3: 20,084,691 (GRCm39)	I166V	probably benign	Het
Ighv5-21	A	T	12: 114,286,434 (GRCm39)		probably benign	Het
Kdm6b	C	T	11: 69,294,418 (GRCm39)	G1218D	unknown	Het
Klhl30	A	G	1: 91,285,636 (GRCm39)		probably null	Het
Lnpep	A	T	17: 17,788,661 (GRCm39)	N481K	probably damaging	Het
Lrp1b	T	C	2: 41,231,861 (GRCm39)	H1203R	probably benign	Het
Lrrc8a	C	T	2: 30,146,661 (GRCm39)	R492W	probably damaging	Het
Magel2	T	A	7: 62,030,342 (GRCm39)	V1082D	unknown	Het
Memo1	A	C	17: 74,552,049 (GRCm39)	H82Q	probably null	Het
Myh13	A	T	11: 67,252,115 (GRCm39)	T1408S	probably benign	Het
Myh2	A	T	11: 67,085,451 (GRCm39)	N1792Y	possibly damaging	Het
Myo1e	A	T	9: 70,275,969 (GRCm39)	N728I	possibly damaging	Het
Myo1e	T	C	9: 70,285,997 (GRCm39)		probably benign	Het
Myo5c	T	C	9: 75,196,337 (GRCm39)		probably benign	Het
Or11l3	T	A	11: 58,516,319 (GRCm39)	L184F	probably damaging	Het
Or1e19	A	G	11: 73,316,188 (GRCm39)	V207A	probably benign	Het
Or2d2b	T	C	7: 106,705,643 (GRCm39)	I142V	probably benign	Het
Or4c11c	T	A	2: 88,661,749 (GRCm39)	M96K	possibly damaging	Het
Or51g1	T	A	7: 102,633,478 (GRCm39)	T298S	probably damaging	Het
Or52e3	T	C	7: 102,868,967 (GRCm39)	F14S	probably damaging	Het
Parp2	C	T	14: 51,047,543 (GRCm39)	A18V	probably benign	Het
Peli1	T	A	11: 21,098,110 (GRCm39)	C282S	probably damaging	Het
Phf8-ps	G	T	17: 33,286,598 (GRCm39)	S68*	probably null	Het
Piezo2	T	C	18: 63,252,006 (GRCm39)	M404V	possibly damaging	Het
Pkn1	T	A	8: 84,404,592 (GRCm39)	Q496L	possibly damaging	Het
Pla2r1	A	T	2: 60,262,317 (GRCm39)	F1093L	probably damaging	Het
Ppp2r3d	A	G	9: 101,022,680 (GRCm39)	V323A	probably damaging	Het
Pramel16	T	A	4: 143,676,453 (GRCm39)	Y217F	probably benign	Het
Prg2	C	T	2: 84,812,342 (GRCm39)		probably benign	Het
Ptprb	G	A	10: 116,182,958 (GRCm39)	G1545S	probably benign	Het
Rbm19	A	G	5: 120,258,307 (GRCm39)	D174G	possibly damaging	Het
Rhbdf2	T	A	11: 116,491,974 (GRCm39)	T526S	probably damaging	Het
Rpusd4	A	G	9: 35,179,310 (GRCm39)	N42S	probably benign	Het
Ryr3	T	A	2: 112,477,361 (GRCm39)	Q4455L	possibly damaging	Het
Sema4a	G	T	3: 88,358,668 (GRCm39)	H30Q	probably damaging	Het
Skint1	G	A	4: 111,878,653 (GRCm39)		probably null	Het
Slc1a3	A	G	15: 8,675,153 (GRCm39)	V284A	probably benign	Het
Slc30a9	A	T	5: 67,497,318 (GRCm39)	K288*	probably null	Het
Slc36a1	G	T	11: 55,119,164 (GRCm39)	A380S	probably benign	Het
Slc47a1	G	A	11: 61,268,833 (GRCm39)		probably benign	Het
Snx19	A	T	9: 30,340,296 (GRCm39)	E478V	probably benign	Het
Spag6	T	C	2: 18,738,916 (GRCm39)		probably benign	Het
Stag1	A	T	9: 100,668,740 (GRCm39)	T223S	probably damaging	Het
Terb1	A	T	8: 105,224,732 (GRCm39)		probably benign	Het
Terf1	A	G	1: 15,876,170 (GRCm39)	D90G	possibly damaging	Het
Tex15	A	G	8: 34,061,302 (GRCm39)	D518G	probably damaging	Het
Tmem174	T	A	13: 98,773,546 (GRCm39)	M95L	possibly damaging	Het
Tnnt3	GTCCAGGCATCTC	GTC	7: 142,066,364 (GRCm39)		probably benign	Het
Usp28	A	G	9: 48,896,803 (GRCm39)	D8G	probably benign	Het
Vmn2r105	T	C	17: 20,444,840 (GRCm39)	T551A	probably damaging	Het
Vmn2r107	A	G	17: 20,595,549 (GRCm39)	I701V	probably benign	Het
Vmn2r13	A	C	5: 109,339,943 (GRCm39)	F11V	probably benign	Het
Vmn2r85	G	C	10: 130,261,443 (GRCm39)	S298*	probably null	Het
Wdr6	C	G	9: 108,452,554 (GRCm39)	W443S	probably damaging	Het
Wipi1	A	G	11: 109,474,016 (GRCm39)	V210A	probably damaging	Het
Zfp317	A	G	9: 19,556,532 (GRCm39)	T47A	probably benign	Het
Zfp61	T	C	7: 23,991,714 (GRCm39)	T146A	probably benign	Het
Zfp964	A	G	8: 70,116,567 (GRCm39)	E389G	unknown	Het
Zfyve16	T	C	13: 92,640,985 (GRCm39)	D1253G	probably damaging	Het
Zpld2	T	C	4: 133,929,669 (GRCm39)	K212R	possibly damaging	Het
Zswim7	G	A	11: 62,158,299 (GRCm39)		probably benign	Het

Other mutations in Kmt2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Kmt2a	APN	9	44,719,231 (GRCm39)	unclassified	probably benign
IGL00667:Kmt2a	APN	9	44,735,683 (GRCm39)	utr 3 prime	probably benign
IGL00828:Kmt2a	APN	9	44,732,073 (GRCm39)	unclassified	probably benign
IGL01080:Kmt2a	APN	9	44,720,389 (GRCm39)	missense	unknown
IGL01131:Kmt2a	APN	9	44,732,467 (GRCm39)	unclassified	probably benign
IGL01294:Kmt2a	APN	9	44,731,594 (GRCm39)	unclassified	probably benign
IGL01432:Kmt2a	APN	9	44,720,393 (GRCm39)	missense	unknown
IGL01646:Kmt2a	APN	9	44,736,781 (GRCm39)	utr 3 prime	probably benign
IGL01777:Kmt2a	APN	9	44,760,302 (GRCm39)	missense	probably damaging	0.99
IGL01944:Kmt2a	APN	9	44,761,064 (GRCm39)	missense	probably damaging	1.00
IGL02125:Kmt2a	APN	9	44,759,983 (GRCm39)	missense	probably damaging	1.00
IGL02207:Kmt2a	APN	9	44,758,979 (GRCm39)	missense	probably damaging	0.98
IGL02424:Kmt2a	APN	9	44,735,932 (GRCm39)	utr 3 prime	probably benign
IGL02499:Kmt2a	APN	9	44,741,806 (GRCm39)	splice site	probably benign
IGL02574:Kmt2a	APN	9	44,741,810 (GRCm39)	splice site	probably benign
IGL02711:Kmt2a	APN	9	44,735,820 (GRCm39)	splice site	probably benign
IGL02828:Kmt2a	APN	9	44,733,244 (GRCm39)	unclassified	probably benign
IGL03012:Kmt2a	APN	9	44,722,263 (GRCm39)	unclassified	probably benign
IGL03242:Kmt2a	APN	9	44,759,689 (GRCm39)	missense	probably damaging	0.99
IGL03294:Kmt2a	APN	9	44,731,862 (GRCm39)	unclassified	probably benign
IGL03326:Kmt2a	APN	9	44,730,044 (GRCm39)	nonsense	probably null
Chromas	UTSW	9	44,731,639 (GRCm39)	unclassified	probably benign
Heteros	UTSW	9	44,740,108 (GRCm39)	nonsense	probably null
Polonium	UTSW	9	44,725,938 (GRCm39)	nonsense	probably null
Pyknos	UTSW	9	44,738,125 (GRCm39)	utr 3 prime	probably benign
Skies	UTSW	9	44,740,558 (GRCm39)	utr 3 prime	probably benign
spacious	UTSW	9	44,758,942 (GRCm39)	missense	probably benign	0.03
ukrainium	UTSW	9	44,753,997 (GRCm39)	unclassified	probably benign
Uranium	UTSW	9	44,761,154 (GRCm39)	nonsense	probably null
PIT4402001:Kmt2a	UTSW	9	44,752,359 (GRCm39)	missense	unknown
R0076:Kmt2a	UTSW	9	44,741,356 (GRCm39)	utr 3 prime	probably benign
R0076:Kmt2a	UTSW	9	44,741,356 (GRCm39)	utr 3 prime	probably benign
R0180:Kmt2a	UTSW	9	44,738,148 (GRCm39)	utr 3 prime	probably benign
R0363:Kmt2a	UTSW	9	44,721,010 (GRCm39)	critical splice donor site	probably null
R0411:Kmt2a	UTSW	9	44,731,261 (GRCm39)	unclassified	probably benign
R0555:Kmt2a	UTSW	9	44,758,868 (GRCm39)	missense	probably damaging	1.00
R0587:Kmt2a	UTSW	9	44,758,831 (GRCm39)	missense	probably damaging	0.99
R0865:Kmt2a	UTSW	9	44,730,067 (GRCm39)	unclassified	probably benign
R0988:Kmt2a	UTSW	9	44,759,846 (GRCm39)	missense	probably benign	0.03
R1006:Kmt2a	UTSW	9	44,758,993 (GRCm39)	missense	probably damaging	0.99
R1108:Kmt2a	UTSW	9	44,760,359 (GRCm39)	missense	probably damaging	1.00
R1292:Kmt2a	UTSW	9	44,725,991 (GRCm39)	utr 3 prime	probably benign
R1322:Kmt2a	UTSW	9	44,732,418 (GRCm39)	unclassified	probably benign
R1476:Kmt2a	UTSW	9	44,735,932 (GRCm39)	utr 3 prime	probably benign
R1485:Kmt2a	UTSW	9	44,738,225 (GRCm39)	utr 3 prime	probably benign
R1487:Kmt2a	UTSW	9	44,745,287 (GRCm39)	utr 3 prime	probably benign
R1493:Kmt2a	UTSW	9	44,758,202 (GRCm39)	missense	probably damaging	1.00
R1499:Kmt2a	UTSW	9	44,759,563 (GRCm39)	missense	probably benign	0.36
R1507:Kmt2a	UTSW	9	44,729,700 (GRCm39)	unclassified	probably benign
R1603:Kmt2a	UTSW	9	44,752,858 (GRCm39)	splice site	probably null
R1635:Kmt2a	UTSW	9	44,735,666 (GRCm39)	utr 3 prime	probably benign
R1662:Kmt2a	UTSW	9	44,747,967 (GRCm39)	utr 3 prime	probably benign
R1711:Kmt2a	UTSW	9	44,752,918 (GRCm39)	missense	unknown
R1785:Kmt2a	UTSW	9	44,730,972 (GRCm39)	unclassified	probably benign
R1786:Kmt2a	UTSW	9	44,730,972 (GRCm39)	unclassified	probably benign
R1919:Kmt2a	UTSW	9	44,731,642 (GRCm39)	unclassified	probably benign
R1964:Kmt2a	UTSW	9	44,731,941 (GRCm39)	missense	probably benign	0.23
R1965:Kmt2a	UTSW	9	44,732,757 (GRCm39)	unclassified	probably benign
R2054:Kmt2a	UTSW	9	44,734,671 (GRCm39)	utr 3 prime	probably benign
R2259:Kmt2a	UTSW	9	44,792,440 (GRCm39)	unclassified	probably benign
R2382:Kmt2a	UTSW	9	44,732,207 (GRCm39)	unclassified	probably benign
R2483:Kmt2a	UTSW	9	44,760,263 (GRCm39)	missense	probably damaging	0.99
R3033:Kmt2a	UTSW	9	44,733,160 (GRCm39)	unclassified	probably benign
R3423:Kmt2a	UTSW	9	44,731,394 (GRCm39)	unclassified	probably benign
R3428:Kmt2a	UTSW	9	44,759,416 (GRCm39)	missense	probably benign	0.06
R3605:Kmt2a	UTSW	9	44,760,493 (GRCm39)	missense	probably damaging	1.00
R3607:Kmt2a	UTSW	9	44,760,493 (GRCm39)	missense	probably damaging	1.00
R3611:Kmt2a	UTSW	9	44,733,763 (GRCm39)	unclassified	probably benign
R3623:Kmt2a	UTSW	9	44,760,263 (GRCm39)	missense	probably damaging	0.99
R3745:Kmt2a	UTSW	9	44,742,637 (GRCm39)	utr 3 prime	probably benign
R3806:Kmt2a	UTSW	9	44,731,653 (GRCm39)	unclassified	probably benign
R3841:Kmt2a	UTSW	9	44,742,588 (GRCm39)	utr 3 prime	probably benign
R3855:Kmt2a	UTSW	9	44,741,796 (GRCm39)	utr 3 prime	probably benign
R4027:Kmt2a	UTSW	9	44,747,990 (GRCm39)	utr 3 prime	probably benign
R4124:Kmt2a	UTSW	9	44,731,093 (GRCm39)	unclassified	probably benign
R4177:Kmt2a	UTSW	9	44,732,280 (GRCm39)	unclassified	probably benign
R4296:Kmt2a	UTSW	9	44,732,472 (GRCm39)	unclassified	probably benign
R4414:Kmt2a	UTSW	9	44,721,077 (GRCm39)	unclassified	probably benign
R4461:Kmt2a	UTSW	9	44,760,263 (GRCm39)	missense	probably damaging	0.99
R4668:Kmt2a	UTSW	9	44,735,869 (GRCm39)	utr 3 prime	probably benign
R4761:Kmt2a	UTSW	9	44,760,421 (GRCm39)	missense	probably damaging	1.00
R4812:Kmt2a	UTSW	9	44,742,651 (GRCm39)	utr 3 prime	probably benign
R4815:Kmt2a	UTSW	9	44,732,553 (GRCm39)	unclassified	probably benign
R4817:Kmt2a	UTSW	9	44,732,763 (GRCm39)	unclassified	probably benign
R4888:Kmt2a	UTSW	9	44,732,977 (GRCm39)	unclassified	probably benign
R4958:Kmt2a	UTSW	9	44,759,764 (GRCm39)	missense	probably damaging	1.00
R5055:Kmt2a	UTSW	9	44,729,649 (GRCm39)	unclassified	probably benign
R5065:Kmt2a	UTSW	9	44,753,997 (GRCm39)	unclassified	probably benign
R5185:Kmt2a	UTSW	9	44,731,543 (GRCm39)	unclassified	probably benign
R5358:Kmt2a	UTSW	9	44,730,571 (GRCm39)	unclassified	probably benign
R5411:Kmt2a	UTSW	9	44,759,782 (GRCm39)	missense	probably damaging	1.00
R5420:Kmt2a	UTSW	9	44,759,633 (GRCm39)	missense	probably damaging	1.00
R5483:Kmt2a	UTSW	9	44,735,921 (GRCm39)	utr 3 prime	probably benign
R5487:Kmt2a	UTSW	9	44,733,272 (GRCm39)	unclassified	probably benign
R5488:Kmt2a	UTSW	9	44,752,335 (GRCm39)	utr 3 prime	probably benign
R5489:Kmt2a	UTSW	9	44,752,335 (GRCm39)	utr 3 prime	probably benign
R5538:Kmt2a	UTSW	9	44,731,639 (GRCm39)	unclassified	probably benign
R5576:Kmt2a	UTSW	9	44,753,931 (GRCm39)	missense	possibly damaging	0.94
R5631:Kmt2a	UTSW	9	44,731,985 (GRCm39)	unclassified	probably benign
R5781:Kmt2a	UTSW	9	44,759,139 (GRCm39)	nonsense	probably null
R5789:Kmt2a	UTSW	9	44,731,201 (GRCm39)	unclassified	probably benign
R5932:Kmt2a	UTSW	9	44,731,944 (GRCm39)	unclassified	probably benign
R6027:Kmt2a	UTSW	9	44,730,587 (GRCm39)	unclassified	probably benign
R6191:Kmt2a	UTSW	9	44,738,125 (GRCm39)	utr 3 prime	probably benign
R6239:Kmt2a	UTSW	9	44,731,093 (GRCm39)	unclassified	probably benign
R6291:Kmt2a	UTSW	9	44,744,171 (GRCm39)	utr 3 prime	probably benign
R6344:Kmt2a	UTSW	9	44,733,156 (GRCm39)	unclassified	probably benign
R6611:Kmt2a	UTSW	9	44,760,569 (GRCm39)	missense	probably damaging	0.98
R6641:Kmt2a	UTSW	9	44,731,132 (GRCm39)	unclassified	probably benign
R6651:Kmt2a	UTSW	9	44,740,108 (GRCm39)	nonsense	probably null
R6825:Kmt2a	UTSW	9	44,729,704 (GRCm39)	unclassified	probably benign
R6853:Kmt2a	UTSW	9	44,729,704 (GRCm39)	unclassified	probably benign
R6897:Kmt2a	UTSW	9	44,758,942 (GRCm39)	missense	probably benign	0.03
R6930:Kmt2a	UTSW	9	44,753,962 (GRCm39)	unclassified	probably benign
R6932:Kmt2a	UTSW	9	44,740,558 (GRCm39)	utr 3 prime	probably benign
R6957:Kmt2a	UTSW	9	44,731,319 (GRCm39)	unclassified	probably benign
R7170:Kmt2a	UTSW	9	44,722,018 (GRCm39)	missense	unknown
R7202:Kmt2a	UTSW	9	44,759,012 (GRCm39)	missense	probably benign	0.03
R7481:Kmt2a	UTSW	9	44,720,368 (GRCm39)	missense	unknown
R7538:Kmt2a	UTSW	9	44,759,041 (GRCm39)	missense	probably damaging	0.99
R7597:Kmt2a	UTSW	9	44,742,650 (GRCm39)	missense	unknown
R7741:Kmt2a	UTSW	9	44,719,359 (GRCm39)	missense	unknown
R7767:Kmt2a	UTSW	9	44,730,295 (GRCm39)	missense	unknown
R7768:Kmt2a	UTSW	9	44,731,900 (GRCm39)	missense	unknown
R7861:Kmt2a	UTSW	9	44,730,031 (GRCm39)	missense	unknown
R7894:Kmt2a	UTSW	9	44,761,154 (GRCm39)	nonsense	probably null
R7922:Kmt2a	UTSW	9	44,754,157 (GRCm39)	missense	unknown
R7943:Kmt2a	UTSW	9	44,760,437 (GRCm39)	missense	probably damaging	0.97
R7997:Kmt2a	UTSW	9	44,745,220 (GRCm39)	missense	unknown
R8033:Kmt2a	UTSW	9	44,756,767 (GRCm39)	missense	probably damaging	1.00
R8055:Kmt2a	UTSW	9	44,732,378 (GRCm39)	missense	unknown
R8139:Kmt2a	UTSW	9	44,730,587 (GRCm39)	unclassified	probably benign
R8156:Kmt2a	UTSW	9	44,733,686 (GRCm39)	missense	unknown
R8224:Kmt2a	UTSW	9	44,719,326 (GRCm39)	missense	unknown
R8427:Kmt2a	UTSW	9	44,756,720 (GRCm39)	missense	probably damaging	1.00
R8535:Kmt2a	UTSW	9	44,730,812 (GRCm39)	missense	possibly damaging	0.91
R8693:Kmt2a	UTSW	9	44,721,981 (GRCm39)	missense	unknown
R8757:Kmt2a	UTSW	9	44,754,210 (GRCm39)	missense	unknown
R8840:Kmt2a	UTSW	9	44,721,016 (GRCm39)	missense	unknown
R8933:Kmt2a	UTSW	9	44,733,802 (GRCm39)	unclassified	probably benign
R8998:Kmt2a	UTSW	9	44,733,174 (GRCm39)	missense	unknown
R9013:Kmt2a	UTSW	9	44,761,208 (GRCm39)	missense	probably damaging	0.97
R9053:Kmt2a	UTSW	9	44,732,716 (GRCm39)	missense	unknown
R9084:Kmt2a	UTSW	9	44,740,130 (GRCm39)	missense	unknown
R9146:Kmt2a	UTSW	9	44,725,938 (GRCm39)	nonsense	probably null
R9162:Kmt2a	UTSW	9	44,759,363 (GRCm39)	missense	probably benign	0.32
R9231:Kmt2a	UTSW	9	44,759,912 (GRCm39)	missense	probably damaging	0.99
R9250:Kmt2a	UTSW	9	44,759,683 (GRCm39)	missense	possibly damaging	0.82
R9262:Kmt2a	UTSW	9	44,731,222 (GRCm39)	missense	probably benign	0.23
R9323:Kmt2a	UTSW	9	44,731,261 (GRCm39)	unclassified	probably benign
R9472:Kmt2a	UTSW	9	44,733,453 (GRCm39)	missense	unknown
R9510:Kmt2a	UTSW	9	44,734,531 (GRCm39)	missense	unknown
R9524:Kmt2a	UTSW	9	44,730,294 (GRCm39)	missense	unknown
R9662:Kmt2a	UTSW	9	44,731,428 (GRCm39)	missense	unknown
R9664:Kmt2a	UTSW	9	44,760,102 (GRCm39)	nonsense	probably null
R9691:Kmt2a	UTSW	9	44,731,557 (GRCm39)	missense	unknown
R9750:Kmt2a	UTSW	9	44,747,499 (GRCm39)	missense	unknown
X0021:Kmt2a	UTSW	9	44,742,532 (GRCm39)	utr 3 prime	probably benign
X0025:Kmt2a	UTSW	9	44,736,689 (GRCm39)	nonsense	probably null
X0026:Kmt2a	UTSW	9	44,732,203 (GRCm39)	unclassified	probably benign
X0027:Kmt2a	UTSW	9	44,792,194 (GRCm39)	missense	possibly damaging	0.85
Z1176:Kmt2a	UTSW	9	44,759,276 (GRCm39)	missense	probably damaging	1.00
Z1177:Kmt2a	UTSW	9	44,730,418 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCACATCACTTACCGTGTCAC -3'
(R):5'- TACAGCGAGGAAACCAGCTC -3'

Sequencing Primer
(F):5'- ATCACTTACCGTGTCACTGAGGG -3'
(R):5'- TGGCAAAACCGGTACCCTG -3'

Posted On

2014-08-25