Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4449:Kmt2b'

511480

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 #

FR4449 ()

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

30568858-30588726 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

CCTCCT to CCTCCTGCTCCT at 30586361 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: 99.7%
3x: 99.5%
10x: 98.3%
20x: 95.8%

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: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	T	A	1: 37,625,035	E594V	probably benign	Homo
2010300C02Rik	C	A	1: 37,625,036	E594*	probably null	Homo
4932415D10Rik	TTCAGT	TT	10: 82,285,469		probably null	Homo
Akap9	GGTATTGCATTTCTTATCT	G	5: 3,981,214		probably benign	Homo
Amfr	C	G	8: 94,005,159	G30R	probably damaging	Homo
Anxa7	C	T	14: 20,469,411	G113E	probably damaging	Homo
Apc	AATAAAGC	AATAAAGCCGATAAAGC	18: 34,282,000		probably benign	Het
Apc	AGC	AGCCAATAACGC	18: 34,282,005		probably benign	Het
Apol6	TTT	TTTGATT	15: 77,051,443		probably null	Homo
Arid1b	CGG	CGGTGG	17: 4,995,589		probably benign	Het
B430218F22Rik	CGGCG	CGGCGATGGCG	13: 118,386,851		probably benign	Homo
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCT	7: 80,512,908		probably benign	Het
Brd2	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAA	17: 34,116,336		probably benign	Het
Btnl10	AAG	AAGGAG	11: 58,923,928		probably benign	Homo
Cacna1a	ACC	ACCCCC	8: 84,638,714		probably benign	Het
Cacna1a	ACC	ACCCCC	8: 84,638,720		probably benign	Het
Cacna1a	ACC	ACCGCC	8: 84,638,723		probably benign	Het
Calhm1	TGGC	TGGCTGTGGCTGCGGC	19: 47,141,274		probably benign	Het
Ccdc15	C	CTTTAT	9: 37,315,158		probably null	Het
Ccdc85c	CCG	CCGACG	12: 108,274,616		probably benign	Het
Ccnk	TTCCCAC	T	12: 108,202,507		probably benign	Het
Cdhr2	AGTC	AGTCGTC	13: 54,725,924		probably benign	Homo
Cdk15	A	ATCTAAAAGG	1: 59,257,823		probably benign	Homo
Cdx1	GCTG	GCTGCTCCTG	18: 61,019,881		probably benign	Het
Cfap46	T	C	7: 139,638,795		probably benign	Homo
Cgref1	TTC	TTCGTC	5: 30,933,776		probably benign	Het
Cgref1	CTT	CTTATT	5: 30,933,778		probably null	Homo
Cluh	G	GACTGAA	11: 74,669,532		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,569		probably benign	Het
Cntnap1	AGCC	AGCCCCCGCC	11: 101,189,593		probably benign	Het
Cpne1	CCTACT	CCT	2: 156,073,502		probably benign	Homo
Cttnbp2	CTGCTG	CTGCTGTTGCTG	6: 18,367,462		probably benign	Het
Cul9	TCC	TCCGCC	17: 46,500,856		probably benign	Het
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,583,674		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,686		probably benign	Het
Dbr1	GGAGGA	GGAGGAAGAGGA	9: 99,583,696		probably benign	Het
Dhx8	AGACCG	AGACCGTGACCG	11: 101,738,184		probably benign	Homo
Dhx8	AGACCGGGACCGGGACCGGGACCGGGAC	AGACCGGGACCGGGAC	11: 101,738,190		probably benign	Het
Dhx8	CG	CGAGACAG	11: 101,738,194		probably benign	Homo
Dhx8	CG	CGAGACAG	11: 101,738,206		probably benign	Het
Dhx8	G	GAGACCC	11: 101,738,207		probably benign	Het
Dspp	CGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG	CGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG	5: 104,178,388		probably benign	Het
Dusp10	G	T	1: 184,037,056	C73F	probably damaging	Homo
Erich3	GA	GAGAA	3: 154,763,513		probably benign	Homo
Ermn	CTT	CTTGTT	2: 58,048,074		probably benign	Het
Fgd6	GGAT	G	10: 94,044,320		probably benign	Homo
G530012D18Rik	GAGAGAGAGAGAGAGAGACAGAGA	GAGAGA	1: 85,577,180		probably benign	Homo
Gar1	GCCGCCTCCGCC	GCCGCC	3: 129,830,704		probably benign	Homo
Gatad2b	AGAC	A	3: 90,341,917		probably benign	Het
Gigyf2	C	T	1: 87,428,585		probably benign	Het
Gm16519	A	AGAT	17: 70,929,338		probably benign	Homo
Gm4340	AGC	AGCGGC	10: 104,196,082		probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,196,085		probably benign	Het
Gm4340	GCA	GCATCA	10: 104,196,086		probably benign	Het
Gpatch11	AGGAAG	AGGAAGCGGAAG	17: 78,842,168		probably benign	Het
Gpatch11	GAAGAG	GAAGAGCAAGAG	17: 78,842,176		probably benign	Het
Gpatch11	GG	GGCAGACG	17: 78,842,181		probably benign	Het
Hoxa10	T	A	6: 52,234,186	Q250L	possibly damaging	Homo
Igkv12-89	GCA	GCAGCAGCAACA	6: 68,835,280		probably benign	Homo
Igsf10	G	A	3: 59,319,110	R2381C	probably damaging	Homo
Il17rd	GGC	GGCAGC	14: 27,082,678		probably benign	Het
Ints5	G	A	19: 8,897,230	R851Q	probably benign	Het
Isg20l2	AGA	AGAGGA	3: 87,931,713		probably benign	Het
Kcng4	G	T	8: 119,633,519	Y39*	probably null	Homo
Kifc5b	A	C	17: 26,924,217	E321A	probably benign	Het
Klra2	TCCACAG	TCCACAGAAACCCACAG	6: 131,221,846		probably null	Homo
Krt10	ACC	ACCACCTCC	11: 99,389,267		probably benign	Het
Las1l	GA	GAGAA	X: 95,940,832		probably benign	Het
Lce1m	AC	ACTGCTGCTGCCGC	3: 93,018,152		probably benign	Het
Leo1	GTACCATGCA	G	9: 75,450,573		probably benign	Het
Lkaaear1	CA	CATCTCCAGCTCTA	2: 181,697,571		probably benign	Het
Maml2	ACAGCAGCAGCAACAGCAGCAGCAGCAGCA	ACAGCAACAGCAGCAGCAGCAGCA	9: 13,621,456		probably benign	Homo
Med12l	CAG	CAGTAG	3: 59,275,963		probably null	Het
Mgat4e	GTCGTAGTCATCGT	GTCGT	1: 134,540,997		probably benign	Homo
Mn1	GCA	GCAACA	5: 111,419,710		probably benign	Het
Morn4	AGGCAGTGAG	AGGCAGTGAGTCTGGCAGTGAG	19: 42,076,109		probably benign	Het
Nat8f2	T	A	6: 85,867,686	L231F	possibly damaging	Homo
Noc2l	C	CTGA	4: 156,240,101		probably benign	Het
Nrg3	T	TAGACAC	14: 38,397,271		probably benign	Het
Olfr890	A	G	9: 38,143,188	I13V	probably benign	Homo
Piezo1	G	A	8: 122,495,569	R503W	probably damaging	Homo
Pih1d2	CTCTTGCGAGGATC	CTC	9: 50,621,627		probably null	Homo
Pik3ap1	G	GGAA	19: 41,281,946		probably benign	Het
Ppp1r3f	C	A	X: 7,560,336	G562V	probably damaging	Homo
Ptms	TTC	TTCGTC	6: 124,914,459		probably benign	Het
Ptpn23	G	T	9: 110,387,633	P1052T	probably benign	Homo
Qrich2	AACT	A	11: 116,456,199		probably benign	Homo
Raet1d	A	ATATCCTCTCTGG	10: 22,370,915		probably benign	Het
Rbm33	AGCAGCAGCAGCACCAGCCGCAGCAGCAGCA	AGCAGCAGCAGCA	5: 28,394,168		probably benign	Homo
Rrbp1	TGCTTCTCAAAGGTGGCTGCCTTGGCTTC	TGCTTC	2: 143,967,456		probably null	Het
Sbp	CAACAAAGATGCTGA	CAACAAAGATGCTGAGAACAAAGATGCTGA	17: 23,945,364		probably benign	Het
Setd1a	G	A	7: 127,785,326		probably benign	Het
Sfswap	CCCACTCAG	CCCACTCAGTCCACTCAG	5: 129,569,748		probably benign	Het
Sfswap	CCACTCAGC	CCACTCAGCTCACTCAGC	5: 129,569,749		probably benign	Het
Sh3pxd2b	T	TGTCTGC	11: 32,423,065		probably benign	Homo
Six3	CGG	CGGGGG	17: 85,621,362		probably benign	Het
Slc12a1	C	CTTTGGCCACAACACG	2: 125,154,216		probably benign	Homo
Slc26a8	CTCTCTG	C	17: 28,638,316		probably benign	Het
Srebf2	G	T	15: 82,185,335	A693S	probably damaging	Homo
Sry	ACTG	ACTGCTG	Y: 2,662,818		probably benign	Het
Sry	TGCTG	TGCTGCTG	Y: 2,662,832		probably benign	Homo
Ston1	G	A	17: 88,635,525	V120M	probably benign	Homo
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,727,649		probably benign	Het
Tbl3	TG	TGTGG	17: 24,702,544		probably benign	Homo
Tctn3	AG	AGAAGCCG	19: 40,607,202		probably benign	Het
Tesk1	CCC	CCCACC	4: 43,447,002		probably benign	Homo
Tmc2	T	G	2: 130,240,196	V433G	probably damaging	Het
Tmprss13	G	A	9: 45,328,558	A55T	unknown	Het
Tnfaip8	ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,046,839		probably null	Homo
Tob1	CAG	CAGAAG	11: 94,214,468		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,214,475		probably benign	Het
Tpsab1	TTGCACCTCCT	TT	17: 25,343,782		probably benign	Homo
Triobp	GTC	GTCTTC	15: 78,993,389		probably benign	Het
Ubtf	CCT	CCTACT	11: 102,306,948		probably null	Het
Vps13b	G	T	15: 35,846,957	A2629S	probably damaging	Homo
Xpnpep3	G	C	15: 81,427,422	D110H	possibly damaging	Het
Zc3h13	CGAGATGTG	CGAGATGTGTGAGATGTG	14: 75,323,601		probably null	Homo
Zfhx3	GCAACAGCA	GCAACAGCAACAACAGCA	8: 108,956,094		probably benign	Homo
Zfp26	C	A	9: 20,438,546	A241S	probably benign	Homo
Zfp335	CTC	CTCATC	2: 164,907,477		probably benign	Het
Zfp335	CTCT	CTCTTCT	2: 164,907,483		probably benign	Het
Zfp598	ACCACC	ACCACCTCCACC	17: 24,680,776		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,785		probably benign	Het
Zfp831	TCC	TCCACC	2: 174,645,471		probably benign	Het
Zfp831	CTC	CTCGTC	2: 174,645,482		probably benign	Het
Zfp978	G	T	4: 147,390,944	S316I	probably benign	Het

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	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	30586367	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