Mutagenetix > Incidental Mutation

Incidental Mutation 'R7943:Kmt2a'

649162

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

045989-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7943 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44714652-44792594 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44760437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 471 (S471P)

Ref Sequence

ENSEMBL: ENSMUSP00000110337 (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: S471P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000002095
Gene: ENSMUSG00000002028
AA Change: S471P

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: S471P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110337
Gene: ENSMUSG00000002028
AA Change: S471P

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: S504P

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

SMART Domains

Protein: ENSMUSP00000122541
Gene: ENSMUSG00000002028
AA Change: S504P

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

probably benign
Transcript: ENSMUST00000152241

Predicted Effect

probably benign
Transcript: ENSMUST00000215489

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	C	T	5: 8,736,222 (GRCm39)	T205I	probably benign	Het
Acsbg1	T	C	9: 54,530,021 (GRCm39)	H225R	probably damaging	Het
Anks1	T	A	17: 28,204,178 (GRCm39)	Y209N	probably damaging	Het
Appl1	T	A	14: 26,667,525 (GRCm39)	I377L	probably benign	Het
Arl9	A	T	5: 77,158,395 (GRCm39)	D159V	probably damaging	Het
Arsa	A	C	15: 89,358,292 (GRCm39)	L339R	probably damaging	Het
C2	A	G	17: 35,091,354 (GRCm39)	L380P	probably damaging	Het
Ccdc13	A	G	9: 121,628,196 (GRCm39)	C97R	unknown	Het
Ccdc74a	A	G	16: 17,468,416 (GRCm39)	H346R	probably benign	Het
Ccnl1	T	C	3: 65,864,326 (GRCm39)	I152V	probably benign	Het
Cd4	C	T	6: 124,847,207 (GRCm39)		probably null	Het
Ceacam5	A	T	7: 17,479,491 (GRCm39)	I203L	probably benign	Het
Ckap2	C	A	8: 22,665,090 (GRCm39)	R458L	probably damaging	Het
Cldn10	T	C	14: 119,099,271 (GRCm39)		probably null	Het
Col27a1	C	T	4: 63,236,520 (GRCm39)	R1377C	unknown	Het
Cry1	A	T	10: 84,978,984 (GRCm39)	M514K	probably benign	Het
Crybg2	T	G	4: 133,800,295 (GRCm39)	V176G	probably damaging	Het
Cyp2j5	C	T	4: 96,547,849 (GRCm39)	G131D	possibly damaging	Het
Ddx46	A	G	13: 55,817,535 (GRCm39)	Y720C	probably damaging	Het
Dock10	A	T	1: 80,626,006 (GRCm39)	V44D	probably damaging	Het
Eif1ad8	C	T	12: 87,563,773 (GRCm39)	A36V	probably damaging	Het
Enam	A	T	5: 88,636,410 (GRCm39)		probably null	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam184a	C	T	10: 53,523,137 (GRCm39)	A956T	probably damaging	Het
Fbxw10	A	T	11: 62,741,487 (GRCm39)	R202*	probably null	Het
Fnip1	A	G	11: 54,393,214 (GRCm39)	E550G	probably damaging	Het
Gpr149	A	G	3: 62,438,132 (GRCm39)	L675P	probably damaging	Het
Hivep3	T	C	4: 119,989,554 (GRCm39)	Y2002H	probably benign	Het
Hp	A	G	8: 110,302,187 (GRCm39)	Y254H	probably damaging	Het
Ighg1	G	T	12: 113,293,957 (GRCm39)	T62N		Het
Jcad	A	G	18: 4,672,700 (GRCm39)	E154G	probably damaging	Het
Med13	A	G	11: 86,169,352 (GRCm39)	V1968A	probably damaging	Het
Mknk2	T	A	10: 80,511,701 (GRCm39)	Q3L	probably benign	Het
Nup98	G	A	7: 101,844,029 (GRCm39)	T65I	probably benign	Het
Or10p21	T	A	10: 128,847,934 (GRCm39)	M260K	possibly damaging	Het
Or51f1e	G	A	7: 102,747,153 (GRCm39)	M68I	probably damaging	Het
Or5m11	A	G	2: 85,782,342 (GRCm39)	T312A	probably benign	Het
Or9i14	A	T	19: 13,792,600 (GRCm39)	M118K	probably damaging	Het
Pcdhgb4	C	T	18: 37,855,063 (GRCm39)	T486I	probably benign	Het
Perm1	T	A	4: 156,302,991 (GRCm39)	F512I	probably damaging	Het
Pgap3	A	T	11: 98,281,227 (GRCm39)	L262Q	probably damaging	Het
Pklr	A	C	3: 89,048,814 (GRCm39)	Y126S	probably damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Ppm1k	T	C	6: 57,501,813 (GRCm39)	T117A	probably benign	Het
Prkd2	G	A	7: 16,584,244 (GRCm39)	E366K	probably benign	Het
Psd	C	A	19: 46,313,169 (GRCm39)	C67F	possibly damaging	Het
Ptpra	T	A	2: 30,322,056 (GRCm39)	F100L	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rock1	T	C	18: 10,112,357 (GRCm39)	E466G	probably damaging	Het
Sec16b	A	T	1: 157,382,327 (GRCm39)	M588L	probably benign	Het
Serpina1f	T	A	12: 103,659,949 (GRCm39)	H111L	probably damaging	Het
Sf3a1	T	C	11: 4,116,537 (GRCm39)	I76T	possibly damaging	Het
Shcbp1	A	T	8: 4,798,812 (GRCm39)	L369Q	possibly damaging	Het
Spef2	A	G	15: 9,601,171 (GRCm39)	M1697T	unknown	Het
St7	G	A	6: 17,844,911 (GRCm39)	C133Y	probably damaging	Het
Tdpoz6	A	T	3: 93,600,070 (GRCm39)	C100S	probably benign	Het
Tex19.1	T	A	11: 121,037,986 (GRCm39)	W115R	possibly damaging	Het
Tfrc	T	A	16: 32,449,039 (GRCm39)	I726N	probably benign	Het
Thbs1	A	G	2: 117,950,098 (GRCm39)		probably null	Het
Trim43a	C	T	9: 88,464,238 (GRCm39)	P50S	probably benign	Het
Trpm4	A	T	7: 44,958,105 (GRCm39)	V935E	probably damaging	Het
Ttc12	A	T	9: 49,381,620 (GRCm39)	V117D	possibly damaging	Het
Ulbp1	T	C	10: 7,407,053 (GRCm39)	T82A	probably damaging	Het
Usp13	C	T	3: 32,931,089 (GRCm39)	H288Y	probably damaging	Het
Vmn2r82	A	G	10: 79,232,079 (GRCm39)	K693E	possibly damaging	Het
Vmn2r90	A	G	17: 17,932,566 (GRCm39)	T158A	probably damaging	Het
Vps8	A	G	16: 21,296,622 (GRCm39)	K540R	possibly damaging	Het
Zfp143	T	A	7: 109,671,681 (GRCm39)		probably null	Het
Zfp709	G	T	8: 72,643,933 (GRCm39)	C454F	probably damaging	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
R2029:Kmt2a	UTSW	9	44,729,747 (GRCm39)	missense	probably benign	0.23
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
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'- AGACATCGAATACCGTCTGC -3'
(R):5'- GCAGGTCAAGAATATCCGGC -3'

Sequencing Primer
(F):5'- AGACATCGAATACCGTCTGCTTCTC -3'
(R):5'- GGTCAAGAATATCCGGCAGTTCATC -3'

Posted On

2020-09-15