Mutagenetix > Incidental Mutation

Incidental Mutation 'R4916:Kmt2b'

380064

Institutional Source

Beutler Lab

Gene Symbol

Kmt2b

Ensembl Gene

ENSMUSG00000006307

Gene Name

lysine (K)-specific methyltransferase 2B

Synonyms

2610014H22Rik, Mll2, Wbp7

MMRRC Submission

042518-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30268283-30288151 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30277942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1634 (N1634S)

Ref Sequence

ENSEMBL: ENSMUSP00000103789 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000006470
AA Change: N1634S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000006470
Gene: ENSMUSG00000006307
AA Change: N1634S

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 damaging
Transcript: ENSMUST00000108154
AA Change: N1634S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103789
Gene: ENSMUSG00000006307
AA Change: N1634S

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: ENSMUST00000125836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128456

Predicted Effect

unknown
Transcript: ENSMUST00000131002
AA Change: N925S

SMART Domains

Protein: ENSMUSP00000118486
Gene: ENSMUSG00000006307
AA Change: N925S

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: ENSMUST00000152931

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.0%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595D18Rik	G	A	12: 111,141,369 (GRCm39)	Q19*	probably null	Het
6030468B19Rik	T	A	11: 117,697,092 (GRCm39)	C230*	probably null	Het
Adcy10	A	G	1: 165,345,815 (GRCm39)	E288G	probably damaging	Het
Adnp	T	A	2: 168,029,537 (GRCm39)	T51S	possibly damaging	Het
Agap3	C	A	5: 24,683,011 (GRCm39)	A464D	probably damaging	Het
Ago4	A	C	4: 126,400,635 (GRCm39)	C693G	probably damaging	Het
Ahi1	A	G	10: 20,860,303 (GRCm39)	R675G	probably damaging	Het
Amigo1	T	A	3: 108,094,981 (GRCm39)	L160Q	probably damaging	Het
Ankrd35	T	C	3: 96,591,438 (GRCm39)	S575P	probably benign	Het
Ano3	T	A	2: 110,601,365 (GRCm39)	T298S	possibly damaging	Het
Ap2b1	T	G	11: 83,281,532 (GRCm39)	F813V	probably damaging	Het
Aplnr	T	G	2: 84,967,261 (GRCm39)	F95L	probably damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Ascc1	A	G	10: 59,840,684 (GRCm39)	N15S	probably benign	Het
AY358078	T	A	14: 52,040,108 (GRCm39)	Y73N	unknown	Het
B3gnt8	C	A	7: 25,328,308 (GRCm39)	P246Q	probably damaging	Het
C2cd2l	T	C	9: 44,227,857 (GRCm39)	Q250R	probably damaging	Het
Camk2d	T	C	3: 126,577,624 (GRCm39)	Y180H	probably damaging	Het
Ccdc170	A	G	10: 4,468,971 (GRCm39)	E167G	probably damaging	Het
Cdcp3	T	A	7: 130,776,206 (GRCm39)		probably null	Het
Cdyl2	A	G	8: 117,305,926 (GRCm39)	M445T	probably damaging	Het
Clca3a1	T	C	3: 144,721,605 (GRCm39)	D322G	probably benign	Het
Cnot10	C	T	9: 114,458,202 (GRCm39)	M101I	possibly damaging	Het
Cntrl	C	T	2: 35,055,694 (GRCm39)	T1196M	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcaf6	T	C	1: 165,247,774 (GRCm39)	D153G	probably damaging	Het
Dennd2c	G	A	3: 103,039,140 (GRCm39)	G96E	probably benign	Het
Dhrs9	T	C	2: 69,231,752 (GRCm39)	F304S	probably damaging	Het
Dmxl1	T	C	18: 50,010,764 (GRCm39)	S974P	probably damaging	Het
Dnah6	T	C	6: 73,169,659 (GRCm39)		probably benign	Het
Dnah7c	T	C	1: 46,634,168 (GRCm39)	L1049P	probably damaging	Het
Dnajc2	T	C	5: 21,962,338 (GRCm39)	K621E	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Erap1	A	G	13: 74,794,647 (GRCm39)	E102G	probably benign	Het
Fasn	T	G	11: 120,707,472 (GRCm39)	N799T	probably benign	Het
Fbxl20	T	C	11: 98,019,186 (GRCm39)	D22G	probably damaging	Het
Fgfr1	T	C	8: 26,053,542 (GRCm39)		probably null	Het
Frzb	A	T	2: 80,276,871 (GRCm39)	I105N	probably damaging	Het
Gabrb1	T	A	5: 72,026,764 (GRCm39)	F55Y	probably damaging	Het
Gatd1	G	T	7: 140,989,010 (GRCm39)	C216*	probably null	Het
Gnl2	A	C	4: 124,937,485 (GRCm39)	N255T	probably damaging	Het
Golgb1	A	T	16: 36,736,480 (GRCm39)	Q1909L	probably benign	Het
Gpnmb	T	C	6: 49,028,904 (GRCm39)	L474P	probably damaging	Het
H60b	T	C	10: 22,163,115 (GRCm39)	V230A	possibly damaging	Het
Hmcn2	T	A	2: 31,250,992 (GRCm39)	V818D	probably damaging	Het
Irag2	C	A	6: 145,111,027 (GRCm39)	S277R	probably damaging	Het
Itprid1	C	T	6: 55,955,175 (GRCm39)	P928S	possibly damaging	Het
Jade2	G	T	11: 51,707,909 (GRCm39)	T768K	probably benign	Het
Kif28	T	C	1: 179,530,085 (GRCm39)	H692R	probably benign	Het
Knop1	A	G	7: 118,445,299 (GRCm39)	W222R	probably damaging	Het
Map1b	T	C	13: 99,569,808 (GRCm39)	D971G	unknown	Het
Mapk7	G	T	11: 61,384,475 (GRCm39)	T77K	probably damaging	Het
Mcm6	A	G	1: 128,276,714 (GRCm39)	L292P	probably damaging	Het
Megf8	T	C	7: 25,039,089 (GRCm39)	L900P	probably benign	Het
Meis1	G	A	11: 18,831,776 (GRCm39)	H421Y	possibly damaging	Het
Minar2	A	T	18: 59,205,277 (GRCm39)	I22F	probably damaging	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mta1	T	A	12: 113,100,160 (GRCm39)	S657T	probably benign	Het
Mtus1	C	A	8: 41,453,838 (GRCm39)	K998N	probably damaging	Het
Ncdn	G	A	4: 126,643,731 (GRCm39)	L364F	possibly damaging	Het
Ndufb7	T	C	8: 84,297,534 (GRCm39)	L63P	probably damaging	Het
Nfix	T	C	8: 85,498,458 (GRCm39)	I172V	probably benign	Het
Nos1	T	C	5: 118,085,635 (GRCm39)		probably null	Het
Nrp1	C	A	8: 129,229,285 (GRCm39)	S921*	probably null	Het
Oma1	T	C	4: 103,176,727 (GRCm39)		probably null	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Pcp2	T	A	8: 3,675,534 (GRCm39)		probably benign	Het
Pdk4	T	A	6: 5,489,157 (GRCm39)	H250L	possibly damaging	Het
Phldb3	A	G	7: 24,323,716 (GRCm39)	H449R	probably benign	Het
Pip4k2c	T	C	10: 127,035,196 (GRCm39)	T391A	possibly damaging	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Prkcg	T	G	7: 3,378,781 (GRCm39)	Y624*	probably null	Het
Psmg2	A	G	18: 67,781,926 (GRCm39)	E164G	probably damaging	Het
Rb1	A	T	14: 73,454,131 (GRCm39)	L589H	probably damaging	Het
Rcvrn	A	T	11: 67,586,591 (GRCm39)	I117F	probably damaging	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Robo2	A	G	16: 73,695,803 (GRCm39)	S1447P	possibly damaging	Het
Scfd2	C	A	5: 74,623,319 (GRCm39)	G405W	probably damaging	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Serpina3k	G	A	12: 104,309,269 (GRCm39)	V238M	probably damaging	Het
Slc1a6	G	A	10: 78,632,085 (GRCm39)	V304M	probably damaging	Het
Slc20a2	C	T	8: 23,051,020 (GRCm39)	S351L	probably damaging	Het
Slc31a2	T	C	4: 62,215,325 (GRCm39)	V124A	probably damaging	Het
Slc38a3	T	C	9: 107,533,426 (GRCm39)	N244S	probably benign	Het
Slc4a1	A	G	11: 102,243,279 (GRCm39)	V784A	probably damaging	Het
Slc6a5	T	C	7: 49,598,004 (GRCm39)	F623L	probably benign	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Slfn8	G	A	11: 82,907,704 (GRCm39)	H280Y	probably damaging	Het
Smpdl3a	A	T	10: 57,677,127 (GRCm39)	D45V	probably damaging	Het
Ssh3	T	C	19: 4,315,170 (GRCm39)	E342G	probably damaging	Het
Tacr1	A	T	6: 82,531,922 (GRCm39)	I273F	probably benign	Het
Tfg	T	A	16: 56,514,759 (GRCm39)		probably null	Het
Tmem179	A	G	12: 112,468,268 (GRCm39)	L71P	probably damaging	Het
Tmem63a	T	A	1: 180,794,086 (GRCm39)	I541N	probably benign	Het
Traj20	G	A	14: 54,436,924 (GRCm39)		probably benign	Het
Trappc13	A	T	13: 104,290,802 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tulp1	A	G	17: 28,578,109 (GRCm39)	L310P	probably damaging	Het
Ube3d	A	G	9: 86,304,925 (GRCm39)	Y306H	probably damaging	Het
Urb1	A	T	16: 90,580,216 (GRCm39)	V649E	probably damaging	Het
Vps13d	A	G	4: 144,709,963 (GRCm39)	L4211P	probably damaging	Het
Vwa5b1	T	A	4: 138,321,573 (GRCm39)	I407F	possibly damaging	Het
Vwce	G	T	19: 10,624,243 (GRCm39)	C378F	probably damaging	Het
Zfp791	T	A	8: 85,837,580 (GRCm39)	I95L	probably benign	Het

Other mutations in Kmt2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Kmt2b	APN	7	30,285,938 (GRCm39)	unclassified	probably benign
IGL00821:Kmt2b	APN	7	30,270,038 (GRCm39)	missense	probably damaging	1.00
IGL00985:Kmt2b	APN	7	30,279,352 (GRCm39)	missense	probably damaging	1.00
IGL01092:Kmt2b	APN	7	30,279,932 (GRCm39)	missense	probably damaging	1.00
IGL01933:Kmt2b	APN	7	30,268,939 (GRCm39)	critical splice donor site	probably null
IGL01949:Kmt2b	APN	7	30,276,586 (GRCm39)	splice site	probably null
IGL02253:Kmt2b	APN	7	30,281,152 (GRCm39)	missense	probably damaging	1.00
IGL02455:Kmt2b	APN	7	30,278,303 (GRCm39)	critical splice donor site	probably null
IGL02493:Kmt2b	APN	7	30,268,936 (GRCm39)	unclassified	probably benign
IGL02504:Kmt2b	APN	7	30,285,968 (GRCm39)	unclassified	probably benign
IGL02532:Kmt2b	APN	7	30,286,314 (GRCm39)	unclassified	probably benign
IGL02698:Kmt2b	APN	7	30,278,118 (GRCm39)	splice site	probably benign
IGL02717:Kmt2b	APN	7	30,282,869 (GRCm39)	missense	probably damaging	1.00
IGL02826:Kmt2b	APN	7	30,276,569 (GRCm39)	missense	probably damaging	1.00
IGL02966:Kmt2b	APN	7	30,274,887 (GRCm39)	missense	probably benign	0.02
IGL03386:Kmt2b	APN	7	30,273,396 (GRCm39)	missense	possibly damaging	0.94
Dean	UTSW	7	30,268,835 (GRCm39)	missense	possibly damaging	0.83
provost	UTSW	7	30,281,633 (GRCm39)	missense	probably damaging	1.00
tenure	UTSW	7	30,268,600 (GRCm39)	missense	probably damaging	1.00
3-1:Kmt2b	UTSW	7	30,269,040 (GRCm39)	nonsense	probably null
FR4304:Kmt2b	UTSW	7	30,285,788 (GRCm39)	unclassified	probably benign
FR4340:Kmt2b	UTSW	7	30,285,800 (GRCm39)	unclassified	probably benign
FR4340:Kmt2b	UTSW	7	30,285,794 (GRCm39)	unclassified	probably benign
FR4340:Kmt2b	UTSW	7	30,285,788 (GRCm39)	unclassified	probably benign
FR4342:Kmt2b	UTSW	7	30,285,800 (GRCm39)	unclassified	probably benign
FR4449:Kmt2b	UTSW	7	30,285,794 (GRCm39)	unclassified	probably benign
FR4449:Kmt2b	UTSW	7	30,285,791 (GRCm39)	unclassified	probably benign
FR4449:Kmt2b	UTSW	7	30,285,786 (GRCm39)	unclassified	probably benign
FR4548:Kmt2b	UTSW	7	30,285,805 (GRCm39)	unclassified	probably benign
FR4589:Kmt2b	UTSW	7	30,285,806 (GRCm39)	unclassified	probably benign
FR4589:Kmt2b	UTSW	7	30,285,789 (GRCm39)	nonsense	probably null
FR4589:Kmt2b	UTSW	7	30,285,786 (GRCm39)	unclassified	probably benign
FR4737:Kmt2b	UTSW	7	30,285,795 (GRCm39)	unclassified	probably benign
FR4737:Kmt2b	UTSW	7	30,285,792 (GRCm39)	unclassified	probably benign
FR4737:Kmt2b	UTSW	7	30,285,791 (GRCm39)	unclassified	probably benign
FR4737:Kmt2b	UTSW	7	30,285,803 (GRCm39)	unclassified	probably benign
FR4976:Kmt2b	UTSW	7	30,285,787 (GRCm39)	unclassified	probably benign
FR4976:Kmt2b	UTSW	7	30,285,785 (GRCm39)	unclassified	probably benign
FR4976:Kmt2b	UTSW	7	30,285,798 (GRCm39)	unclassified	probably benign
FR4976:Kmt2b	UTSW	7	30,285,791 (GRCm39)	unclassified	probably benign
FR4976:Kmt2b	UTSW	7	30,285,789 (GRCm39)	nonsense	probably null
PIT4403001:Kmt2b	UTSW	7	30,285,114 (GRCm39)	missense	probably damaging	1.00
PIT4802001:Kmt2b	UTSW	7	30,278,996 (GRCm39)	missense	probably damaging	0.99
R0057:Kmt2b	UTSW	7	30,276,217 (GRCm39)	splice site	probably benign
R0131:Kmt2b	UTSW	7	30,283,346 (GRCm39)	missense	probably damaging	0.99
R0241:Kmt2b	UTSW	7	30,276,494 (GRCm39)	missense	probably damaging	1.00
R0241:Kmt2b	UTSW	7	30,276,494 (GRCm39)	missense	probably damaging	1.00
R0377:Kmt2b	UTSW	7	30,273,618 (GRCm39)	missense	probably damaging	1.00
R0396:Kmt2b	UTSW	7	30,276,180 (GRCm39)	missense	probably damaging	1.00
R1241:Kmt2b	UTSW	7	30,274,365 (GRCm39)	missense	probably damaging	0.98
R1252:Kmt2b	UTSW	7	30,279,912 (GRCm39)	missense	probably damaging	0.99
R1418:Kmt2b	UTSW	7	30,276,385 (GRCm39)	splice site	probably benign
R1599:Kmt2b	UTSW	7	30,270,000 (GRCm39)	missense	probably damaging	1.00
R1632:Kmt2b	UTSW	7	30,283,387 (GRCm39)	missense	probably damaging	1.00
R1745:Kmt2b	UTSW	7	30,285,275 (GRCm39)	missense	possibly damaging	0.90
R1867:Kmt2b	UTSW	7	30,274,083 (GRCm39)	missense	possibly damaging	0.71
R1955:Kmt2b	UTSW	7	30,274,776 (GRCm39)	missense	possibly damaging	0.90
R2040:Kmt2b	UTSW	7	30,268,845 (GRCm39)	missense	probably damaging	1.00
R2113:Kmt2b	UTSW	7	30,282,812 (GRCm39)	missense	probably damaging	1.00
R2216:Kmt2b	UTSW	7	30,273,490 (GRCm39)	missense	probably benign	0.25
R2401:Kmt2b	UTSW	7	30,276,133 (GRCm39)	missense	probably damaging	1.00
R2518:Kmt2b	UTSW	7	30,275,493 (GRCm39)	missense	probably benign	0.10
R3436:Kmt2b	UTSW	7	30,276,117 (GRCm39)	missense	probably damaging	1.00
R4248:Kmt2b	UTSW	7	30,273,489 (GRCm39)	missense	probably benign	0.25
R4259:Kmt2b	UTSW	7	30,280,506 (GRCm39)	missense	probably damaging	0.99
R4290:Kmt2b	UTSW	7	30,281,261 (GRCm39)	critical splice donor site	probably null
R4388:Kmt2b	UTSW	7	30,288,015 (GRCm39)	unclassified	probably benign
R4542:Kmt2b	UTSW	7	30,279,684 (GRCm39)	missense	probably damaging	0.99
R4649:Kmt2b	UTSW	7	30,285,783 (GRCm39)	unclassified	probably benign
R4722:Kmt2b	UTSW	7	30,282,627 (GRCm39)	missense	probably damaging	1.00
R4891:Kmt2b	UTSW	7	30,276,186 (GRCm39)	nonsense	probably null
R5104:Kmt2b	UTSW	7	30,269,265 (GRCm39)	missense	probably damaging	1.00
R5254:Kmt2b	UTSW	7	30,268,600 (GRCm39)	missense	probably damaging	1.00
R5262:Kmt2b	UTSW	7	30,269,219 (GRCm39)	missense	probably damaging	1.00
R5307:Kmt2b	UTSW	7	30,281,098 (GRCm39)	missense	possibly damaging	0.91
R5526:Kmt2b	UTSW	7	30,279,869 (GRCm39)	missense	probably damaging	1.00
R5609:Kmt2b	UTSW	7	30,276,570 (GRCm39)	missense	probably damaging	0.99
R6150:Kmt2b	UTSW	7	30,287,902 (GRCm39)	unclassified	probably benign
R6727:Kmt2b	UTSW	7	30,283,984 (GRCm39)	missense	probably damaging	0.98
R6824:Kmt2b	UTSW	7	30,285,701 (GRCm39)	unclassified	probably benign
R7048:Kmt2b	UTSW	7	30,268,731 (GRCm39)	missense	probably damaging	0.99
R7155:Kmt2b	UTSW	7	30,279,388 (GRCm39)	missense	probably damaging	0.99
R7307:Kmt2b	UTSW	7	30,279,896 (GRCm39)	missense	probably damaging	0.99
R7388:Kmt2b	UTSW	7	30,281,385 (GRCm39)	missense	probably damaging	1.00
R7555:Kmt2b	UTSW	7	30,268,835 (GRCm39)	missense	possibly damaging	0.83
R7569:Kmt2b	UTSW	7	30,268,978 (GRCm39)	missense	possibly damaging	0.54
R7616:Kmt2b	UTSW	7	30,281,633 (GRCm39)	missense	probably damaging	1.00
R7669:Kmt2b	UTSW	7	30,282,656 (GRCm39)	missense	possibly damaging	0.84
R7881:Kmt2b	UTSW	7	30,279,208 (GRCm39)	missense	probably damaging	1.00
R7999:Kmt2b	UTSW	7	30,276,199 (GRCm39)	missense	probably damaging	1.00
R8003:Kmt2b	UTSW	7	30,268,802 (GRCm39)	missense	probably damaging	0.98
R8189:Kmt2b	UTSW	7	30,268,756 (GRCm39)	missense	probably damaging	0.98
R8291:Kmt2b	UTSW	7	30,284,894 (GRCm39)	missense	probably damaging	1.00
R8314:Kmt2b	UTSW	7	30,278,347 (GRCm39)	missense	probably damaging	0.99
R8802:Kmt2b	UTSW	7	30,283,496 (GRCm39)	missense	probably damaging	1.00
R8954:Kmt2b	UTSW	7	30,273,640 (GRCm39)	missense	probably damaging	1.00
R9046:Kmt2b	UTSW	7	30,285,479 (GRCm39)	missense	probably benign	0.00
R9225:Kmt2b	UTSW	7	30,286,172 (GRCm39)	missense	unknown
R9258:Kmt2b	UTSW	7	30,281,893 (GRCm39)	missense	probably null	0.99
R9414:Kmt2b	UTSW	7	30,282,307 (GRCm39)	missense	probably damaging	0.99
R9468:Kmt2b	UTSW	7	30,284,513 (GRCm39)	missense	probably damaging	0.98
R9508:Kmt2b	UTSW	7	30,269,259 (GRCm39)	missense	probably damaging	0.99
R9642:Kmt2b	UTSW	7	30,283,340 (GRCm39)	critical splice donor site	probably null
R9667:Kmt2b	UTSW	7	30,287,784 (GRCm39)	missense	unknown
R9709:Kmt2b	UTSW	7	30,279,228 (GRCm39)	missense	probably damaging	0.98
RF001:Kmt2b	UTSW	7	30,285,807 (GRCm39)	unclassified	probably benign
RF006:Kmt2b	UTSW	7	30,285,802 (GRCm39)	unclassified	probably benign
RF020:Kmt2b	UTSW	7	30,285,807 (GRCm39)	unclassified	probably benign
RF021:Kmt2b	UTSW	7	30,285,782 (GRCm39)	unclassified	probably benign
RF030:Kmt2b	UTSW	7	30,285,802 (GRCm39)	unclassified	probably benign
RF035:Kmt2b	UTSW	7	30,285,782 (GRCm39)	unclassified	probably benign
X0067:Kmt2b	UTSW	7	30,278,998 (GRCm39)	missense	probably damaging	0.99
Z1088:Kmt2b	UTSW	7	30,284,676 (GRCm39)	missense	probably benign	0.28
Z1176:Kmt2b	UTSW	7	30,276,795 (GRCm39)	missense	probably damaging	1.00
Z1177:Kmt2b	UTSW	7	30,285,841 (GRCm39)	missense	unknown
Z1177:Kmt2b	UTSW	7	30,283,588 (GRCm39)	missense	probably damaging	0.98
Z1177:Kmt2b	UTSW	7	30,274,449 (GRCm39)	missense	probably benign	0.08
Z1186:Kmt2b	UTSW	7	30,284,732 (GRCm39)	missense	probably benign
Z1186:Kmt2b	UTSW	7	30,274,404 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCAAGGGAGCCAGATTCAG -3'
(R):5'- GCAGAGCTCTAGGTTGTGGG -3'

Sequencing Primer
(F):5'- AGCACTTGCCTAGCATATGTGAG -3'
(R):5'- CTAGGTTGTGGGGTCCAGTCC -3'

Posted On

2016-04-15