Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4737:Kmt2b'

511654

Institutional Source

Beutler Lab

Gene Symbol

Kmt2b

Ensembl Gene

ENSMUSG00000006307

Gene Name

lysine (K)-specific methyltransferase 2B

Synonyms

2610014H22Rik, Wbp7, Mll2

Accession Numbers

Genbank: NM_029274; MGI: 109565

Essential gene?

Essential (E-score: 1.000) question?

Stock #

FR4737 ()

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

30568858-30588726 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

CCTCCT to CCTCCTTCTCCT at 30586367 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006470] [ENSMUST00000108150] [ENSMUST00000108151] [ENSMUST00000108154]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000006470

SMART Domains

Protein: ENSMUSP00000006470
Gene: ENSMUSG00000006307

Domain	Start	End	E-Value	Type
AT_hook	18	30	2.82e2	SMART
low complexity region	66	106	N/A	INTRINSIC
low complexity region	110	122	N/A	INTRINSIC
AT_hook	149	159	2.4e2	SMART
AT_hook	218	230	1.95e2	SMART
low complexity region	249	263	N/A	INTRINSIC
low complexity region	272	302	N/A	INTRINSIC
coiled coil region	353	413	N/A	INTRINSIC
AT_hook	476	488	5.47e-1	SMART
low complexity region	501	517	N/A	INTRINSIC
low complexity region	578	606	N/A	INTRINSIC
low complexity region	621	657	N/A	INTRINSIC
low complexity region	673	700	N/A	INTRINSIC
low complexity region	715	728	N/A	INTRINSIC
low complexity region	738	777	N/A	INTRINSIC
low complexity region	910	922	N/A	INTRINSIC
Pfam:zf-CXXC	963	1010	7.2e-15	PFAM
low complexity region	1039	1061	N/A	INTRINSIC
low complexity region	1103	1115	N/A	INTRINSIC
PHD	1209	1256	1.25e-5	SMART
PHD	1257	1307	5.4e-10	SMART
PHD	1343	1400	1.27e-6	SMART
low complexity region	1415	1427	N/A	INTRINSIC
PHD	1646	1692	3.82e-1	SMART
FYRN	1745	1788	3.25e-19	SMART
low complexity region	1881	1899	N/A	INTRINSIC
low complexity region	1912	1942	N/A	INTRINSIC
low complexity region	1961	1978	N/A	INTRINSIC
low complexity region	1991	2003	N/A	INTRINSIC
low complexity region	2013	2026	N/A	INTRINSIC
low complexity region	2048	2061	N/A	INTRINSIC
low complexity region	2087	2105	N/A	INTRINSIC
low complexity region	2127	2138	N/A	INTRINSIC
low complexity region	2215	2235	N/A	INTRINSIC
low complexity region	2239	2270	N/A	INTRINSIC
low complexity region	2396	2406	N/A	INTRINSIC
FYRC	2419	2504	4.83e-36	SMART
SET	2581	2703	1.67e-42	SMART
PostSET	2705	2721	4.65e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108150

SMART Domains

Protein: ENSMUSP00000103785
Gene: ENSMUSG00000006310

Domain	Start	End	E-Value	Type
ZnF_C2H2	14	36	1.67e-2	SMART
ZnF_C2H2	41	63	2.4e-3	SMART
low complexity region	81	101	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108151

SMART Domains

Protein: ENSMUSP00000103786
Gene: ENSMUSG00000006310

Domain	Start	End	E-Value	Type
BTB	29	117	1.67e-8	SMART
low complexity region	207	222	N/A	INTRINSIC
ZnF_C2H2	350	372	1.28e-3	SMART
ZnF_C2H2	378	400	1.67e-2	SMART
ZnF_C2H2	405	427	2.4e-3	SMART
low complexity region	445	465	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108154

SMART Domains

Protein: ENSMUSP00000103789
Gene: ENSMUSG00000006307

Domain	Start	End	E-Value	Type
AT_hook	18	30	2.82e2	SMART
low complexity region	66	106	N/A	INTRINSIC
low complexity region	110	122	N/A	INTRINSIC
AT_hook	149	159	2.4e2	SMART
AT_hook	218	230	1.95e2	SMART
low complexity region	249	263	N/A	INTRINSIC
low complexity region	272	302	N/A	INTRINSIC
coiled coil region	353	413	N/A	INTRINSIC
AT_hook	476	488	5.47e-1	SMART
low complexity region	501	517	N/A	INTRINSIC
low complexity region	578	606	N/A	INTRINSIC
low complexity region	621	657	N/A	INTRINSIC
low complexity region	673	700	N/A	INTRINSIC
low complexity region	715	728	N/A	INTRINSIC
low complexity region	738	777	N/A	INTRINSIC
low complexity region	910	922	N/A	INTRINSIC
Pfam:zf-CXXC	963	1010	1e-14	PFAM
low complexity region	1039	1061	N/A	INTRINSIC
low complexity region	1103	1115	N/A	INTRINSIC
PHD	1209	1256	1.25e-5	SMART
PHD	1257	1307	5.4e-10	SMART
PHD	1343	1400	1.27e-6	SMART
low complexity region	1415	1427	N/A	INTRINSIC
PHD	1646	1692	3.82e-1	SMART
FYRN	1745	1788	3.25e-19	SMART
low complexity region	1872	1890	N/A	INTRINSIC
low complexity region	1903	1933	N/A	INTRINSIC
low complexity region	1952	1969	N/A	INTRINSIC
low complexity region	1982	1994	N/A	INTRINSIC
low complexity region	2004	2017	N/A	INTRINSIC
low complexity region	2039	2052	N/A	INTRINSIC
low complexity region	2078	2096	N/A	INTRINSIC
low complexity region	2118	2129	N/A	INTRINSIC
low complexity region	2206	2226	N/A	INTRINSIC
low complexity region	2230	2261	N/A	INTRINSIC
low complexity region	2383	2398	N/A	INTRINSIC
FYRC	2411	2496	4.83e-36	SMART
SET	2573	2695	1.67e-42	SMART
PostSET	2697	2713	4.65e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125372

Predicted Effect

probably benign
Transcript: ENSMUST00000131002

SMART Domains

Protein: ENSMUSP00000118486
Gene: ENSMUSG00000006307

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
low complexity region	30	69	N/A	INTRINSIC
low complexity region	202	214	N/A	INTRINSIC
Pfam:zf-CXXC	255	302	5.2e-15	PFAM
low complexity region	331	353	N/A	INTRINSIC
low complexity region	395	407	N/A	INTRINSIC
PHD	501	548	1.25e-5	SMART
PHD	549	599	5.4e-10	SMART
PHD	635	692	1.27e-6	SMART
low complexity region	707	719	N/A	INTRINSIC
PHD	938	984	3.82e-1	SMART
FYRN	1037	1080	3.25e-19	SMART
low complexity region	1173	1191	N/A	INTRINSIC
low complexity region	1204	1234	N/A	INTRINSIC
low complexity region	1253	1270	N/A	INTRINSIC
low complexity region	1283	1295	N/A	INTRINSIC
low complexity region	1305	1318	N/A	INTRINSIC
low complexity region	1340	1353	N/A	INTRINSIC
low complexity region	1379	1397	N/A	INTRINSIC
low complexity region	1419	1430	N/A	INTRINSIC
low complexity region	1507	1527	N/A	INTRINSIC
low complexity region	1531	1562	N/A	INTRINSIC
low complexity region	1684	1699	N/A	INTRINSIC
FYRC	1712	1797	4.83e-36	SMART
SET	1874	1996	1.67e-42	SMART
PostSET	1998	2014	4.65e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185080

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.8%
20x: 97.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene leads to embryonic growth retardation, abnormal somite development, neural tube defects, increased apoptosis, and complete embryonic lethality. Homozygotes for a hypomorphic allele show embryonic growth arrest, altered DNA methylation, and reduced female fertility. [provided by MGI curators]

Allele List at MGI

All alleles(8) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(4)

Other mutations in this stock

Total: 208 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	TCT	TCTCCT	12: 110,668,448		probably benign	Het
2010300C02Rik	T	A	1: 37,625,035	E594V	probably benign	Homo
2010300C02Rik	C	A	1: 37,625,036	E594*	probably null	Homo
4930402H24Rik	CC	CCTGC	2: 130,770,752		probably benign	Het
4932415D10Rik	TTCA	T	10: 82,285,469		probably benign	Homo
4932438A13Rik	TTATTAT	TTATTATTATTATTACTATTAT	3: 37,050,754		probably benign	Het
A630001G21Rik	CTGTT	CT	1: 85,723,135		probably benign	Homo
Abcb11	C	A	2: 69,243,518	R1221L	probably damaging	Homo
Abcb4	GAAA	G	5: 8,896,597		probably benign	Homo
Ahdc1	CT	CTCGT	4: 133,062,759		probably benign	Homo
Alpk3	TCT	TCTACT	7: 81,077,762		probably benign	Het
Amfr	C	G	8: 94,005,159	G30R	probably damaging	Homo
Ankrd35	GC	GCTAC	3: 96,683,849		probably benign	Homo
Anxa7	C	T	14: 20,469,411	G113E	probably damaging	Homo
Apc	CAATAAAGC	CAATAAAGCTAATAAAGC	18: 34,281,999		probably benign	Homo
Apol6	GTTT	GTTTCTTT	15: 77,051,442		probably null	Homo
Arpc1b	GGTGGC	GGTGGCGTGGC	5: 145,126,787		probably null	Het
AY358078	C	T	14: 51,805,698	S281L	unknown	Homo
BC051142	CAG	CAGAAG	17: 34,460,051		probably benign	Het
BC051142	GCA	GCATCA	17: 34,460,068		probably benign	Het
Blm	ACCTGC	ACCTGCCTGC	7: 80,463,771		probably null	Het
Blm	T	TACCA	7: 80,463,774		probably null	Het
Blzf1	TTGT	TT	1: 164,303,917		probably null	Homo
Btnl10	A	AAGG	11: 58,923,931		probably benign	Homo
Cacna1a	ACC	ACCGCC	8: 84,638,720		probably benign	Het
Cacna1a	ACC	ACCCCC	8: 84,638,726		probably benign	Homo
Catsper2	TTC	TTCTTTTACTTTGTC	2: 121,397,540		probably benign	Homo
Ccdc170	ACC	ACCTCC	10: 4,561,023		probably benign	Het
Ccdc170	AC	ACCCC	10: 4,561,029		probably benign	Het
Ccdc73	TAAG	T	2: 104,991,840		probably benign	Homo
Ccnk	TTCCCAC	T	12: 108,202,507		probably benign	Het
Cdan1	A	C	2: 120,724,971	V763G	probably damaging	Het
Cdk6	A	G	5: 3,344,211		probably benign	Het
Cdx1	TGCTGC	TGCTGCCGCTGC	18: 61,019,874		probably benign	Het
Cdx1	GCTGCT	GCTGCTTCTGCT	18: 61,019,878		probably benign	Het
Cfap46	CCTTCT	CCTTCTTCT	7: 139,638,930		probably benign	Homo
Chd4	GC	GCTCCCCC	6: 125,122,131		probably benign	Homo
Cluh	CCCCGAGCC	CCCCGAGCCCGAGCC	11: 74,669,514		probably benign	Het
Cluh	AGCCTG	AGCCTGCGCCTG	11: 74,669,519		probably benign	Het
Cluh	GAGCCT	GAGCCTAAGCCT	11: 74,669,524		probably benign	Het
Cluh	CC	CCTGAGGC	11: 74,669,533		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,569		probably benign	Het
Cntnap1	GCCCCA	GCCCCAACCCCA	11: 101,189,576		probably benign	Het
Cntnap1	GCCCCA	GCCCCACCCCCA	11: 101,189,582		probably benign	Het
Cntnap1	CCCAGC	CCCAGCGCCAGC	11: 101,189,590		probably benign	Het
Cul9	CTCTTC	CTCTTCTTC	17: 46,500,846		probably benign	Het
Cul9	CTC	CTCTTC	17: 46,500,858		probably benign	Het
Cyth2	C	A	7: 45,813,042	S102I	possibly damaging	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,686		probably benign	Het
Dbr1	GGAGG	GGAGGACGAGG	9: 99,583,699		probably benign	Het
Dhx8	GACCGA	GACCGATACCGA	11: 101,738,179		probably benign	Homo
Dhx8	CGAGAC	CGAGACGGAGAC	11: 101,738,182		probably benign	Homo
Dhx8	GAGACC	GAGACCCAGACC	11: 101,738,189		probably benign	Homo
Dnah8	ACTGCCCCT	ACT	17: 30,635,465		probably benign	Het
Dnah8	CCTCCCG	C	17: 30,635,477		probably benign	Homo
Dnajb5	AGGTG	A	4: 42,957,126		probably null	Het
Dusp10	G	T	1: 184,037,056	C73F	probably damaging	Homo
E4f1	CCG	CCGACG	17: 24,455,192		probably benign	Homo
Eif3a	TTA	TTATTATA	19: 60,775,289		probably benign	Het
Fam81b	TTC	TTCGTC	13: 76,271,319		probably benign	Het
Fbxo22	G	A	9: 55,209,382	R56H	probably damaging	Het
Fcgr1	CTTCT	C	3: 96,284,504		probably null	Het
Fcgr1	T	C	3: 96,287,094	D159G	probably benign	Homo
Fmn1	CCTCCT	CCTCCTACTCCT	2: 113,525,778		probably benign	Het
Fmn1	CC	CCCCCTGC	2: 113,525,781		probably benign	Het
Fmn1	CC	CCTCCTTC	2: 113,525,784		probably benign	Het
G530012D18Rik	GA	GACAGAGATA	1: 85,577,178		probably null	Het
Gli3	G	A	13: 15,644,357	R248H	probably damaging	Het
Gm16503	G	A	4: 147,541,253	G68E	unknown	Het
Gm19345	GGATGGCAGGTG	GG	7: 19,857,602		probably null	Het
Gm4340	GCA	GCAACA	10: 104,196,077		probably benign	Het
Gm4340	AGC	AGCTGC	10: 104,196,097		probably benign	Het
Gm4340	AG	AGCGG	10: 104,196,100		probably benign	Het
Gm6309	C	T	5: 146,168,183	V307I	probably benign	Het
Gpatch11	AAGAGG	AAGAGGCAGAGG	17: 78,842,171		probably benign	Het
Gpatch11	AGGAA	AGGAAGCGGAA	17: 78,842,180		probably benign	Het
Hoxa10	T	A	6: 52,234,186	Q250L	possibly damaging	Homo
Hrh1	T	C	6: 114,481,123	I455T	possibly damaging	Het
Hspa1b	GCGCC	GC	17: 34,957,129		probably benign	Homo
Iba57	GAAA	GAAAAA	11: 59,161,505		probably null	Homo
Igf1r	TGGAGC	TGGAGCTGGAGAGGGAGC	7: 68,226,181		probably benign	Het
Il17rd	CGG	CGGAGG	14: 27,082,680		probably benign	Het
Il2	AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTGCTG	3: 37,125,764		probably benign	Het
Il2	TGG	TGGGGCTTGAAGCGG	3: 37,125,828		probably benign	Het
Kcng4	G	T	8: 119,633,519	Y39*	probably null	Homo
Klra2	G	GAAATCCACAT	6: 131,221,852		probably null	Het
Krt10	TCCGCC	TCCGCCGCC	11: 99,386,197		probably benign	Homo
Krt10	TCCTCC	TCCTCCGCCTCC	11: 99,389,273		probably benign	Het
Krt10	TCC	TCCTCCACC	11: 99,389,279		probably benign	Homo
Krtap28-10	TCCCACA	TCCCACACCCACA	1: 83,042,123		probably benign	Homo
Krtap4-2	A	ACAC	11: 99,635,013		probably benign	Het
Krtap9-3	AC	ACAGGTGTCGC	11: 99,598,004		probably benign	Het
Las1l	AGG	AGGGGG	X: 95,940,821		probably benign	Het
Las1l	AGG	AGGCGG	X: 95,940,827		probably benign	Het
Las1l	GAG	GAGCAG	X: 95,940,829		probably benign	Het
Lrit3	TGC	TGCAGC	3: 129,788,806		probably benign	Het
Lrit3	GCT	GCTTCT	3: 129,788,810		probably benign	Het
Lrit3	AC	ACATTC	3: 129,803,913		probably null	Homo
Luzp1	A	AGGTGGCCTCTTCAGT	4: 136,543,196		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,835		probably benign	Het
Mamld1	GCA	GCAACA	X: 71,118,839		probably benign	Het
Mapk8ip3	G	A	17: 24,902,119		probably null	Homo
Mbd1	TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,273,573		probably benign	Het
Nat8f2	T	A	6: 85,867,686	L231F	possibly damaging	Homo
Nfxl1	CC	CCGGGGAC	5: 72,559,121		probably benign	Het
Noc2l	GCT	GCTTCT	4: 156,240,094		probably benign	Het
Noc2l	CTG	CTGTTG	4: 156,240,095		probably benign	Het
Noc2l	GGTAG	GG	4: 156,241,501		probably benign	Homo
Nxpe5	C	T	5: 138,229,934		probably benign	Het
Olfr1038-ps	CAG	CAGAG	2: 86,122,760		probably null	Homo
Olfr418	GGGCTGCTTGTGGCAAT	G	1: 173,270,630		probably null	Het
Olfr568	CT	CTAATTGCCTT	7: 102,877,233		probably benign	Homo
Olfr644	G	C	7: 104,071,292		probably benign	Homo
Olfr890	A	G	9: 38,143,188	I13V	probably benign	Homo
Osmr	C	CTCA	15: 6,837,706		probably null	Homo
Patl2	CTG	CTGTTG	2: 122,126,136		probably benign	Het
Patl2	GC	GCTAC	2: 122,126,144		probably null	Het
Patl2	C	CTGA	2: 122,126,145		probably benign	Het
Pdik1l	GTTTTTGTTTT	GTTTTTGTTTTTTTTTTGTTTT	4: 134,279,367		probably null	Homo
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,279,506		probably benign	Het
Phc1	GCTG	GCTGCTTCTG	6: 122,323,598		probably benign	Het
Piezo1	G	A	8: 122,495,569	R503W	probably damaging	Homo
Pitrm1	TTTTA	T	13: 6,560,596		probably benign	Homo
Pkdrej	TG	TGGGAGCG	15: 85,819,680		probably benign	Homo
Pla2g4e	AGGG	A	2: 120,244,724		probably benign	Homo
Plekhs1	AC	ACCTCCCCCGAGCC	19: 56,479,863		probably benign	Het
Pnmal1	CCTCATGATGCACCTGCTTCAACATC	CCTCATGATGCACCTGCTTCAACATCTCATGATGCACCTGCTTCAACATC	7: 16,961,425		probably benign	Homo
Pnmal2	TGGA	T	7: 16,946,006		probably benign	Het
Ppp1r3f	C	A	X: 7,560,336	G562V	probably damaging	Homo
Prr13	CTC	CTCATC	15: 102,462,173		probably benign	Het
Prss41	CACA	C	17: 23,844,097		probably benign	Het
Prtg	GTAAC	G	9: 72,857,081		probably benign	Het
Ptk2b	C	T	14: 66,173,849	R411Q	possibly damaging	Homo
Ptms	TCT	TCTGCT	6: 124,914,457		probably benign	Homo
Ptms	TTC	TTCGTC	6: 124,914,459		probably benign	Homo
Ptms	C	CTTG	6: 124,914,461		probably benign	Homo
Ptpn23	G	T	9: 110,387,633	P1052T	probably benign	Homo
Rab3il1	C	A	19: 10,033,751	A264E	probably damaging	Homo
Rbm6	GCTGT	G	9: 107,782,755		probably null	Homo
Rtbdn	TAG	TAGGGGCAG	8: 84,956,161		probably benign	Het
Rtbdn	AGCG	AGCGTCCGCG	8: 84,956,168		probably benign	Het
Rtbdn	CGGC	CGGCAGGGGC	8: 84,956,176		probably benign	Het
Rtbdn	GGC	GGCAGCTGC	8: 84,956,177		probably benign	Het
Sbp	CAAAG	CAAAGCTGCTGACAAAAAAG	17: 23,945,382		probably benign	Het
Sbp	G	GCTGACAACAAAGATC	17: 23,945,389		probably benign	Het
Setd1a	GTGGTAGTG	GTGGTAGTGTTGGTAGTG	7: 127,785,312		probably benign	Het
Sfswap	GCCCACTC	GCCCACTCATCCCACTC	5: 129,569,756		probably benign	Het
Six3	GGC	GGCAGC	17: 85,621,357		probably benign	Het
Six3	GCG	GCGCCG	17: 85,621,358		probably benign	Het
Six3	CGG	CGGGGG	17: 85,621,362		probably benign	Het
Six3	GGC	GGCAGC	17: 85,621,363		probably benign	Het
Six3	CGG	CGGGGG	17: 85,621,365		probably benign	Het
Six3	CGG	CGGGGG	17: 85,621,368		probably benign	Het
Slc12a1	ACC	ACCTTTGGCCACAACTCC	2: 125,154,214		probably benign	Homo
Smarca2	CAGCAGCAGCAGCAGCAGCA	CAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,630,999		probably benign	Homo
Spaca1	TCGCTC	TCGCTCGCGCTC	4: 34,049,836		probably benign	Het
Spag1	TTC	TTCGTC	15: 36,197,733		probably benign	Het
Spag17	AGG	AGGCGG	3: 100,056,257		probably benign	Het
Srebf2	G	T	15: 82,185,335	A693S	probably damaging	Homo
Srpk2	T	C	5: 23,545,196		probably null	Homo
Sry	GTG	GTGTTG	Y: 2,662,837		probably benign	Homo
Sry	TGG	TGGGGG	Y: 2,662,838		probably benign	Homo
Sry	AACTGCT	A	Y: 2,663,195		probably benign	Het
St5	CACCACACTGGGGCAGCCCACACTGGGGCAG	CCCCACACTGGGGCAG	7: 109,556,921		probably benign	Het
Stard9	C	CTAAGGGACTAGTAGG	2: 120,696,085		probably benign	Het
Supt20	GCAGCA	GCAGCAACAGCA	3: 54,727,657		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,727,658		probably benign	Het
Supt20	CAGCAG	CAGCAGAAGCAG	3: 54,727,661		probably benign	Het
Tcof1	GGGTA	G	18: 60,828,650		probably benign	Homo
Tdpoz3	A	C	3: 93,826,674	N219H	probably benign	Het
Tesk1	C	CCCCG	4: 43,447,004		probably null	Homo
Tob1	CACA	CACAACA	11: 94,214,451		probably benign	Het
Tob1	GCA	GCAACA	11: 94,214,464		probably benign	Het
Tob1	A	AGCC	11: 94,214,478		probably benign	Het
Trav15-2-dv6-2	AG	AGAGG	14: 53,649,756		probably benign	Homo
Trav15-2-dv6-2	G	GAAA	14: 53,649,757		probably benign	Homo
Trim63	GAGT	G	4: 134,327,725		probably benign	Het
Tsen2	G	GAGA	6: 115,560,077		probably benign	Het
Ttf2	TC	TCCCC	3: 100,963,160		probably benign	Homo
Tusc1	ACCGCC	ACCGCCCCCGCC	4: 93,335,313		probably benign	Homo
Ubqlnl	TGAG	T	7: 104,149,835		probably benign	Homo
Ubtf	CCT	CCTACT	11: 102,306,948		probably null	Het
Ubtf	TCC	TCCACC	11: 102,306,950		probably benign	Het
Vps13b	G	T	15: 35,846,957	A2629S	probably damaging	Homo
Wasf3	G	T	5: 146,470,250	R460L	probably damaging	Het
Zc3h13	ATGTGCGAG	ATGTGCGAGGTGTGCGAG	14: 75,323,596		probably benign	Homo
Zc3h13	TGCGAGATG	TGCGAGATGAGCGAGATG	14: 75,323,599		probably benign	Homo
Zfhx3	GCAACA	GCAACAACAACAACA	8: 108,956,088		probably benign	Het
Zfhx3	AGCA	AGCAACAGACGCA	8: 108,956,102		probably benign	Het
Zfhx3	GCA	GCAACAGCACCA	8: 108,956,103		probably benign	Het
Zfp111	TCA	TCAACA	7: 24,199,805		probably benign	Homo
Zfp112	CATGA	CATGATGA	7: 24,125,407		probably benign	Homo
Zfp26	C	A	9: 20,438,546	A241S	probably benign	Homo
Zfp282	CGG	CGGGGG	6: 47,904,790		probably benign	Het
Zfp282	CGG	CGGGGG	6: 47,904,799		probably benign	Het
Zfp335	CTC	CTCGTC	2: 164,907,474		probably benign	Het
Zfp335	TCC	TCCGCC	2: 164,907,475		probably benign	Het
Zfp335	TC	TCCCC	2: 164,907,484		probably benign	Het
Zfp462	CCACC	CCACCTCAGCCACAGTCACC	4: 55,009,758		probably benign	Het
Zfp462	ACC	ACCTCAGCCACAGTCGCC	4: 55,009,760		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,776		probably benign	Het
Zfp598	ACCACC	ACCACCGCCACC	17: 24,680,782		probably benign	Het
Zfp598	AC	ACCACCGC	17: 24,680,791		probably benign	Het
Zfp831	TCC	TCCCCC	2: 174,645,471		probably benign	Het
Zfp831	CTC	CTCATC	2: 174,645,476		probably benign	Het
Zfp831	TC	TCCGC	2: 174,645,483		probably benign	Het
Zfp93	CAGGCATAG	CAG	7: 24,275,389		probably benign	Homo
Zscan10	TGACG	TG	17: 23,609,445		probably benign	Homo

Other mutations in Kmt2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Kmt2b	APN	7	30586513	unclassified	probably benign
IGL00821:Kmt2b	APN	7	30570613	missense	probably damaging	1.00
IGL00985:Kmt2b	APN	7	30579927	missense	probably damaging	1.00
IGL01092:Kmt2b	APN	7	30580507	missense	probably damaging	1.00
IGL01933:Kmt2b	APN	7	30569514	critical splice donor site	probably null
IGL01949:Kmt2b	APN	7	30577161	splice site	probably null
IGL02253:Kmt2b	APN	7	30581727	missense	probably damaging	1.00
IGL02455:Kmt2b	APN	7	30578878	critical splice donor site	probably null
IGL02493:Kmt2b	APN	7	30569511	unclassified	probably benign
IGL02504:Kmt2b	APN	7	30586543	unclassified	probably benign
IGL02532:Kmt2b	APN	7	30586889	unclassified	probably benign
IGL02698:Kmt2b	APN	7	30578693	splice site	probably benign
IGL02717:Kmt2b	APN	7	30583444	missense	probably damaging	1.00
IGL02826:Kmt2b	APN	7	30577144	missense	probably damaging	1.00
IGL02966:Kmt2b	APN	7	30575462	missense	probably benign	0.02
IGL03386:Kmt2b	APN	7	30573971	missense	possibly damaging	0.94
Dean	UTSW	7	30569410	missense	possibly damaging	0.83
provost	UTSW	7	30582208	missense	probably damaging	1.00
tenure	UTSW	7	30569175	missense	probably damaging	1.00
3-1:Kmt2b	UTSW	7	30569615	nonsense	probably null
FR4304:Kmt2b	UTSW	7	30586363	unclassified	probably benign
FR4340:Kmt2b	UTSW	7	30586363	unclassified	probably benign
FR4340:Kmt2b	UTSW	7	30586369	unclassified	probably benign
FR4340:Kmt2b	UTSW	7	30586375	unclassified	probably benign
FR4342:Kmt2b	UTSW	7	30586375	unclassified	probably benign
FR4449:Kmt2b	UTSW	7	30586361	unclassified	probably benign
FR4449:Kmt2b	UTSW	7	30586366	unclassified	probably benign
FR4449:Kmt2b	UTSW	7	30586369	unclassified	probably benign
FR4548:Kmt2b	UTSW	7	30586380	unclassified	probably benign
FR4589:Kmt2b	UTSW	7	30586361	unclassified	probably benign
FR4589:Kmt2b	UTSW	7	30586364	nonsense	probably null
FR4589:Kmt2b	UTSW	7	30586381	unclassified	probably benign
FR4737:Kmt2b	UTSW	7	30586366	unclassified	probably benign
FR4737:Kmt2b	UTSW	7	30586370	unclassified	probably benign
FR4737:Kmt2b	UTSW	7	30586378	unclassified	probably benign
FR4976:Kmt2b	UTSW	7	30586360	unclassified	probably benign
FR4976:Kmt2b	UTSW	7	30586362	unclassified	probably benign
FR4976:Kmt2b	UTSW	7	30586364	nonsense	probably null
FR4976:Kmt2b	UTSW	7	30586366	unclassified	probably benign
FR4976:Kmt2b	UTSW	7	30586373	unclassified	probably benign
PIT4403001:Kmt2b	UTSW	7	30585689	missense	probably damaging	1.00
PIT4802001:Kmt2b	UTSW	7	30579571	missense	probably damaging	0.99
R0057:Kmt2b	UTSW	7	30576792	splice site	probably benign
R0131:Kmt2b	UTSW	7	30583921	missense	probably damaging	0.99
R0241:Kmt2b	UTSW	7	30577069	missense	probably damaging	1.00
R0241:Kmt2b	UTSW	7	30577069	missense	probably damaging	1.00
R0377:Kmt2b	UTSW	7	30574193	missense	probably damaging	1.00
R0396:Kmt2b	UTSW	7	30576755	missense	probably damaging	1.00
R1241:Kmt2b	UTSW	7	30574940	missense	probably damaging	0.98
R1252:Kmt2b	UTSW	7	30580487	missense	probably damaging	0.99
R1418:Kmt2b	UTSW	7	30576960	splice site	probably benign
R1599:Kmt2b	UTSW	7	30570575	missense	probably damaging	1.00
R1632:Kmt2b	UTSW	7	30583962	missense	probably damaging	1.00
R1745:Kmt2b	UTSW	7	30585850	missense	possibly damaging	0.90
R1867:Kmt2b	UTSW	7	30574658	missense	possibly damaging	0.71
R1955:Kmt2b	UTSW	7	30575351	missense	possibly damaging	0.90
R2040:Kmt2b	UTSW	7	30569420	missense	probably damaging	1.00
R2113:Kmt2b	UTSW	7	30583387	missense	probably damaging	1.00
R2216:Kmt2b	UTSW	7	30574065	missense	probably benign	0.25
R2401:Kmt2b	UTSW	7	30576708	missense	probably damaging	1.00
R2518:Kmt2b	UTSW	7	30576068	missense	probably benign	0.10
R3436:Kmt2b	UTSW	7	30576692	missense	probably damaging	1.00
R4248:Kmt2b	UTSW	7	30574064	missense	probably benign	0.25
R4259:Kmt2b	UTSW	7	30581081	missense	probably damaging	0.99
R4290:Kmt2b	UTSW	7	30581836	critical splice donor site	probably null
R4388:Kmt2b	UTSW	7	30588590	unclassified	probably benign
R4542:Kmt2b	UTSW	7	30580259	missense	probably damaging	0.99
R4649:Kmt2b	UTSW	7	30586358	unclassified	probably benign
R4722:Kmt2b	UTSW	7	30583202	missense	probably damaging	1.00
R4891:Kmt2b	UTSW	7	30576761	nonsense	probably null
R4916:Kmt2b	UTSW	7	30578517	missense	probably damaging	0.99
R5104:Kmt2b	UTSW	7	30569840	missense	probably damaging	1.00
R5254:Kmt2b	UTSW	7	30569175	missense	probably damaging	1.00
R5262:Kmt2b	UTSW	7	30569794	missense	probably damaging	1.00
R5307:Kmt2b	UTSW	7	30581673	missense	possibly damaging	0.91
R5526:Kmt2b	UTSW	7	30580444	missense	probably damaging	1.00
R5609:Kmt2b	UTSW	7	30577145	missense	probably damaging	0.99
R6150:Kmt2b	UTSW	7	30588477	unclassified	probably benign
R6727:Kmt2b	UTSW	7	30584559	missense	probably damaging	0.98
R6824:Kmt2b	UTSW	7	30586276	unclassified	probably benign
R7048:Kmt2b	UTSW	7	30569306	missense	probably damaging	0.99
R7155:Kmt2b	UTSW	7	30579963	missense	probably damaging	0.99
R7307:Kmt2b	UTSW	7	30580471	missense	probably damaging	0.99
R7388:Kmt2b	UTSW	7	30581960	missense	probably damaging	1.00
R7555:Kmt2b	UTSW	7	30569410	missense	possibly damaging	0.83
R7569:Kmt2b	UTSW	7	30569553	missense	possibly damaging	0.54
R7616:Kmt2b	UTSW	7	30582208	missense	probably damaging	1.00
R7669:Kmt2b	UTSW	7	30583231	missense	possibly damaging	0.84
R7881:Kmt2b	UTSW	7	30579783	missense	probably damaging	1.00
R7999:Kmt2b	UTSW	7	30576774	missense	probably damaging	1.00
R8003:Kmt2b	UTSW	7	30569377	missense	probably damaging	0.98
R8189:Kmt2b	UTSW	7	30569331	missense	probably damaging	0.98
R8291:Kmt2b	UTSW	7	30585469	missense	probably damaging	1.00
R8314:Kmt2b	UTSW	7	30578922	missense	probably damaging	0.99
R8802:Kmt2b	UTSW	7	30584071	missense	probably damaging	1.00
R8954:Kmt2b	UTSW	7	30574215	missense	probably damaging	1.00
R9046:Kmt2b	UTSW	7	30586054	missense	probably benign	0.00
R9225:Kmt2b	UTSW	7	30586747	missense	unknown
R9258:Kmt2b	UTSW	7	30582468	missense	probably null	0.99
R9414:Kmt2b	UTSW	7	30582882	missense	probably damaging	0.99
R9468:Kmt2b	UTSW	7	30585088	missense	probably damaging	0.98
R9508:Kmt2b	UTSW	7	30569834	missense	probably damaging	0.99
R9642:Kmt2b	UTSW	7	30583915	critical splice donor site	probably null
R9667:Kmt2b	UTSW	7	30588359	missense	unknown
R9709:Kmt2b	UTSW	7	30579803	missense	probably damaging	0.98
RF001:Kmt2b	UTSW	7	30586382	unclassified	probably benign
RF006:Kmt2b	UTSW	7	30586377	unclassified	probably benign
RF020:Kmt2b	UTSW	7	30586382	unclassified	probably benign
RF021:Kmt2b	UTSW	7	30586357	unclassified	probably benign
RF030:Kmt2b	UTSW	7	30586377	unclassified	probably benign
RF035:Kmt2b	UTSW	7	30586357	unclassified	probably benign
X0067:Kmt2b	UTSW	7	30579573	missense	probably damaging	0.99
Z1088:Kmt2b	UTSW	7	30585251	missense	probably benign	0.28
Z1176:Kmt2b	UTSW	7	30577370	missense	probably damaging	1.00
Z1177:Kmt2b	UTSW	7	30575024	missense	probably benign	0.08
Z1177:Kmt2b	UTSW	7	30584163	missense	probably damaging	0.98
Z1177:Kmt2b	UTSW	7	30586416	missense	unknown
Z1186:Kmt2b	UTSW	7	30574979	missense	probably benign
Z1186:Kmt2b	UTSW	7	30585307	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCTCTTCCTAGAGCATGTAGC -3'
(R):5'- TGTTTCCAAGGCCAAGAAAGTG -3'

Sequencing Primer
(F):5'- AGGAGACTCTTCCTGCTTCTCTG -3'
(R):5'- TTTCCAAGGCCAAGAAAGTGAAGATG -3'

Posted On

2018-04-05