Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4589:Kmt2b'

511350

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 #

FR4589 ()

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: 99.8%
3x: 99.5%
10x: 98.4%
20x: 96.1%

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: 124 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	TCC	TCCCCC	2: 130,770,745		probably benign	Het
4930402H24Rik	CC	CCTGC	2: 130,770,752		probably benign	Het
4930548H24Rik	GAGAAG	GAG	5: 31,487,373		probably benign	Het
7530416G11Rik	T	A	15: 85,494,307	E45V	unknown	Homo
A530064D06Rik	GTAGGAAGCTTAG	GTAG	17: 48,163,381		probably benign	Homo
Anxa2	C	CCCA	9: 69,480,210		probably benign	Het
Apol6	GTTT	GTTTTTTT	15: 77,051,438		probably null	Het
Arrb2	C	T	11: 70,438,671	T269M	probably damaging	Homo
AY761185	CACTGTGGG	C	8: 20,943,903		probably null	Het
BC051142	GCA	GCACCA	17: 34,460,053		probably benign	Het
BC051142	AGC	AGCCGC	17: 34,460,073		probably benign	Het
Bcas3	G	A	11: 85,509,497	V431I	probably benign	Homo
Blm	TACC	TACCGACC	7: 80,463,770		probably null	Het
Btnl10	AGA	AGAGGA	11: 58,923,929		probably benign	Homo
Btnl4	T	A	17: 34,472,636	K293M	probably benign	Het
Catsper2	TGTC	TGTCGTC	2: 121,397,779		probably benign	Het
Cd109	ATTTAT	ATTTATTTATTTCTTTAT	9: 78,712,529		probably benign	Het
Cd164	G	T	10: 41,521,926	A59S	probably benign	Homo
Cd22	C	T	7: 30,878,082	R2H	possibly damaging	Homo
Chd4	C	T	6: 125,122,133	P1597L	probably benign	Homo
Chd4	CCCCTGCCCCTGCCACTGCCCCTGCC	CCCCTGCCCCTGCCCCTGCCACTGCCCCTGCC	6: 125,122,139		probably benign	Homo
Chga	AGC	AGCTGC	12: 102,561,402		probably benign	Het
Cluh	AGCC	AGCCTGGGCC	11: 74,669,531		probably benign	Het
Cnpy3	ACCC	ACCCCCC	17: 46,736,739		probably benign	Het
Cntnap1	CCCAGC	CCCAGCTCCAGC	11: 101,189,566		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,575		probably benign	Het
Cntnap1	CAGCCC	CAGCCCGAGCCC	11: 101,189,580		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,581		probably benign	Het
Col2a1	C	A	15: 97,988,981		probably null	Het
Col6a5	A	T	9: 105,934,174	N715K	unknown	Homo
Cttnbp2	ATT	ATTTCTGTT	6: 18,367,458		probably benign	Het
D230025D16Rik	G	A	8: 105,241,098	G207E	probably benign	Homo
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,583,677		probably benign	Het
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,583,680		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,683		probably benign	Het
Dbr1	GGAGGA	GGAGGAAGAGGA	9: 99,583,696		probably benign	Het
Dclre1a	AGGCTTTG	AG	19: 56,544,123		probably benign	Het
Dcpp1	A	C	17: 23,881,454	K53Q	probably benign	Het
Dhx8	CGAGAC	CGAGACAGAGAC	11: 101,738,188		probably benign	Homo
Dnah12	G	T	14: 26,849,385	G2817V	probably damaging	Homo
Dthd1	C	CTT	5: 62,843,026		probably null	Homo
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,874,764		probably benign	Het
Eps8	AC	ACTCGC	6: 137,517,069		probably null	Het
Ermn	TTC	TTCATC	2: 58,048,069		probably benign	Het
Fam81b	TC	TCTCC	13: 76,271,323		probably benign	Het
Fbrsl1	TG	TGCGTGTGCTGGCG	5: 110,378,150		probably benign	Het
Fbxo43	GCCTGT	GCCTGTTCCTGT	15: 36,152,100		probably benign	Het
Fbxo43	CCTGTG	CCTGTGTCTGTG	15: 36,152,101		probably benign	Het
Fmn1	CTCCTC	CTCCTCTTCCTC	2: 113,525,773		probably benign	Het
Fmn1	TCCTCC	TCCTCCCCCTCC	2: 113,525,774		probably benign	Het
Frmpd2	G	T	14: 33,511,021	L399F	probably damaging	Homo
Gabre	GCTCCGACTCCGACTCCG	GCTCCGACTCCGACTCCGACTCCG	X: 72,270,030		probably benign	Homo
Gabre	ACTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	ACTCCGGCTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	X: 72,270,042		probably benign	Homo
Gbp2b	A	G	3: 142,603,652	I175V	probably benign	Het
Gm10324	G	A	13: 66,122,208	S396N	probably benign	Het
Gm4340	CAG	CAGTAG	10: 104,196,078		probably null	Het
Gm4340	AGC	AGCCGC	10: 104,196,079		probably benign	Het
Gm4340	AG	AGCCG	10: 104,196,100		probably benign	Het
H2-Q4	G	A	17: 35,380,405	D155N	probably damaging	Het
Ighv5-9	C	T	12: 113,661,877	S82N	probably benign	Homo
Ipo9	CCATC	CCATCATC	1: 135,386,266		probably benign	Het
Ipo9	TCC	TCCCCC	1: 135,386,281		probably benign	Het
Isg20l2	GAAA	GAAAAAA	3: 87,931,717		probably benign	Homo
Klra9	C	G	6: 130,182,403	D216H	probably benign	Het
Krt10	TCC	TCCGCCGCC	11: 99,389,276		probably benign	Het
Las1l	TCTTCC	TCTTCCGCTTCC	X: 95,940,619		probably benign	Het
Las1l	TTCCTCCTCCTC	TTCCTC	X: 95,940,621		probably benign	Het
Las1l	TC	TCTTCCAC	X: 95,940,625		probably benign	Het
Lce1m	TGCTGCCACC	TGCTGCCACCACGGCTGCCACC	3: 93,018,268		probably benign	Homo
Lor	GCCGCCGCC	GC	3: 92,081,894		probably null	Het
Lrit3	AC	ACATCC	3: 129,803,913		probably null	Het
Lrrc63	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	14: 75,125,182		probably benign	Homo
Mapk7	GG	GGTGCTAG	11: 61,490,222		probably benign	Het
Med12l	GCAACA	GCAACAACA	3: 59,275,956		probably benign	Het
Nacad	GGGTCA	GGGTCATGGTCA	11: 6,599,753		probably benign	Het
Ndufc2	G	C	7: 97,400,290	M34I	probably benign	Het
Nphp3	CACG	C	9: 104,025,939		probably benign	Het
Nrg3	AG	AGCCTTTG	14: 38,397,266		probably benign	Het
Pdik1l	TTTTTGTTTT	TTTTTGTTTTGATTTTGTTTT	4: 134,279,368		probably null	Homo
Pdik1l	TTTTGTTTT	TTTTGTTTTGTGTTTGTTTT	4: 134,279,369		probably null	Homo
Plekhs1	AC	ACCTCCCCCGAGGC	19: 56,479,863		probably benign	Het
Prag1	CCGC	CCGCCGC	8: 36,103,883		probably benign	Homo
Prtg	G	A	9: 72,856,865	R540Q	probably damaging	Het
Raet1d	T	TCCTCTCTGGTAG	10: 22,370,918		probably null	Homo
Rhbdf1	A	ATTTT	11: 32,214,391		probably benign	Het
Rps19	AAAATT	AAAATTGAAATT	7: 24,889,182		probably benign	Het
Rtbdn	GGCAGC	GGCAGCCGCAGC	8: 84,956,171		probably benign	Het
Scaf4	TGCGGC	TGC	16: 90,229,854		probably benign	Homo
Serac1	T	A	17: 6,070,808	K70N	probably damaging	Homo
Setd1a	CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,785,297		probably benign	Het
Shf	TCT	TCTGCT	2: 122,354,177		probably benign	Homo
Shroom4	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCA	X: 6,624,061		probably benign	Homo
Six3	CGG	CGGAGG	17: 85,621,365		probably benign	Het
Snx1	TCT	TCTCCT	9: 66,104,926		probably benign	Homo
Spag17	AGG	AGGGGG	3: 100,056,245		probably benign	Het
Spag17	GGA	GGATGA	3: 100,056,258		probably benign	Het
Speer4a	C	A	5: 26,036,748	E127*	probably null	Het
Sry	ACTG	ACTGCTG	Y: 2,662,818		probably benign	Het
Supt20	GCAGCA	GCAGCATCAGCA	3: 54,727,651		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,727,655		probably benign	Het
Supt20	A	AGCAGCT	3: 54,727,671		probably benign	Het
Tcof1	GGGTA	G	18: 60,828,650		probably benign	Homo
Tert	C	CAAGGGTGCG	13: 73,648,304		probably benign	Het
Tmbim7	C	T	5: 3,670,064	R100C	possibly damaging	Het
Tmed6	C	CTAGA	8: 107,061,598		probably null	Homo
Tob1	CACA	CACAACA	11: 94,214,451		probably benign	Het
Tob1	CA	CAGCAA	11: 94,214,477		probably null	Het
Trcg1	AGCTCCTGTGTCTGT	A	9: 57,242,202		probably null	Homo
Trim16	A	AAGC	11: 62,820,695		probably benign	Homo
Tubgcp4	GTGA	G	2: 121,175,463		probably benign	Het
Tusc1	ACCGCC	ACCGCCCCCGCC	4: 93,335,307		probably benign	Het
Ubtf	CTCTTC	CTCTTCTTC	11: 102,306,943		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,306,945		probably benign	Het
Vars	GTGG	GTGGAGTCCTGGTTGG	17: 35,015,988		probably benign	Homo
Vmn2r52	C	T	7: 10,159,020	E731K	probably damaging	Het
Vmn2r87	C	T	10: 130,478,714	M334I	probably benign	Homo
Zc3h13	CGGGATGTGCG	CGGGATGTGCGGGATGTGCG	14: 75,323,592		probably benign	Homo
Zc3h13	TGTGCGAG	TGTGCGAGGAGTGCGAG	14: 75,323,597		probably benign	Het
Zc3h13	GTGCGAGAT	GTGCGAGATTTGCGAGAT	14: 75,323,598		probably benign	Het
Zfhx3	CAGCA	CAGCAACAGAAGCA	8: 108,956,101		probably benign	Het
Zfp282	GGC	GGCAGC	6: 47,904,791		probably benign	Het
Zfp459	GA	GAGTTA	13: 67,408,275		probably null	Homo
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,779		probably benign	Het
Zfp831	TCC	TCCCCC	2: 174,645,468		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	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	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