Mutagenetix > Incidental Mutation

Incidental Mutation 'R7155:Kmt2b'

557214

Institutional Source

Beutler Lab

Gene Symbol

Kmt2b

Ensembl Gene

ENSMUSG00000006307

Gene Name

lysine (K)-specific methyltransferase 2B

Synonyms

2610014H22Rik, Wbp7, Mll2

MMRRC Submission

045226-MU

Accession Numbers

Genbank: NM_029274; MGI: 109565

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30568858-30588726 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30579963 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1458 (V1458E)

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: V1458E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000006470
Gene: ENSMUSG00000006307
AA Change: V1458E

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: V1458E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103789
Gene: ENSMUSG00000006307
AA Change: V1458E

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

SMART Domains

Protein: ENSMUSP00000118486
Gene: ENSMUSG00000006307
AA Change: V749E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,473,569	L63P	possibly damaging	Het
Abca13	A	T	11: 9,529,010	Y4286F	probably benign	Het
Aldh5a1	A	C	13: 24,911,589	V515G	possibly damaging	Het
Ankrd42	T	C	7: 92,591,933	E406G	possibly damaging	Het
Arfgef2	T	A	2: 166,865,813	M1043K	probably benign	Het
Arhgef11	T	A	3: 87,709,572	Y383*	probably null	Het
Aste1	C	T	9: 105,405,136	P614L	probably damaging	Het
B3galt5	T	A	16: 96,315,805	S213T	probably damaging	Het
Bak1	A	G	17: 27,022,460	L108P	possibly damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Bdp1	T	G	13: 100,061,151	T909P	possibly damaging	Het
Cacna1i	A	G	15: 80,395,238	H2060R	probably benign	Het
Cdhr3	G	T	12: 33,061,773	P246Q	probably damaging	Het
Colgalt1	T	C	8: 71,623,710	S602P	probably damaging	Het
Csde1	T	C	3: 103,039,953	S74P	probably damaging	Het
Cyp51	A	T	5: 4,087,846	C366S	possibly damaging	Het
Dcaf7	A	G	11: 106,037,190	N23D	probably damaging	Het
Ddx10	G	A	9: 53,117,288	A772V	probably benign	Het
Ddx4	A	G	13: 112,613,785	F404S	probably benign	Het
Dirc2	G	T	16: 35,735,577	T171K	probably benign	Het
Dlg4	T	A	11: 70,017,216	M1K	probably null	Het
Dnajc6	T	C	4: 101,612,945	V293A	probably damaging	Het
Etl4	G	T	2: 20,806,931	R1643L	probably damaging	Het
F13b	G	A	1: 139,508,157	E234K	probably damaging	Het
Fam171a1	T	C	2: 3,225,729	I633T	probably benign	Het
Frem3	A	G	8: 80,616,039	I1654V	probably benign	Het
Galr2	A	G	11: 116,283,582	E346G	possibly damaging	Het
Gck	G	A	11: 5,949,705		probably benign	Het
Gen1	G	T	12: 11,241,832	T717K	probably benign	Het
Gm13083	A	T	4: 143,616,165	I281F	probably benign	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,480,188		probably benign	Het
Hat1	A	G	2: 71,421,251	T215A	possibly damaging	Het
Hmbox1	A	T	14: 64,897,037	M38K	probably damaging	Het
Ifi47	A	G	11: 49,096,542	K379E	probably benign	Het
Ift81	T	C	5: 122,568,999	Y460C	probably damaging	Het
Jarid2	T	A	13: 44,902,462	S381R	probably damaging	Het
Kpna4	G	T	3: 69,089,933	P336Q	probably damaging	Het
Krt84	T	C	15: 101,532,254	R168G	probably damaging	Het
Lhx8	T	A	3: 154,324,584	Y137F	possibly damaging	Het
Lin7b	T	C	7: 45,370,227	E19G	probably damaging	Het
Lrmda	A	T	14: 22,584,540	R131S	probably damaging	Het
Lrrc75b	C	T	10: 75,553,678	A280T	possibly damaging	Het
Megf11	G	A	9: 64,647,951	R268K	probably null	Het
Mgat4e	G	T	1: 134,541,959	Q116K	probably damaging	Het
Mlkl	A	G	8: 111,319,403	L325P	probably damaging	Het
Mup2	A	G	4: 60,137,641	L134P	probably damaging	Het
Myo19	A	G	11: 84,900,586	E489G	probably damaging	Het
Ncbp3	C	A	11: 73,048,009	P37Q	probably damaging	Het
Nf2	A	G	11: 4,799,964	V236A	probably damaging	Het
Nlrp1a	A	T	11: 71,124,079	M115K	possibly damaging	Het
Nsf	T	A	11: 103,828,530	K649*	probably null	Het
Olfml2b	A	T	1: 170,666,785	I313L	probably benign	Het
Olfr316	T	A	11: 58,758,283	I206N	probably damaging	Het
Olfr654	T	A	7: 104,588,557	V251D	possibly damaging	Het
Papln	T	A	12: 83,776,521	L444Q	probably damaging	Het
Phc3	T	C	3: 30,914,197	I897V	probably benign	Het
Plcg1	T	C	2: 160,754,380	L632P	probably damaging	Het
Prkg1	T	C	19: 31,302,301	T178A	probably damaging	Het
Ptges	T	A	2: 30,892,804	T79S	probably benign	Het
Rab26	T	C	17: 24,532,289	T81A	probably damaging	Het
Rai14	T	A	15: 10,595,003	I145L	possibly damaging	Het
Rasgrf1	A	G	9: 90,002,361	T960A	possibly damaging	Het
Rfx1	A	T	8: 84,094,826	I755F	probably damaging	Het
Rims1	T	G	1: 22,432,923	L670F	probably damaging	Het
Rtkn	G	A	6: 83,149,711	C297Y	probably damaging	Het
Sec23a	A	T	12: 58,989,443	N378K	probably benign	Het
Slc17a2	A	G	13: 23,822,407	E472G	probably benign	Het
Slc1a2	T	C	2: 102,766,995	M449T	probably damaging	Het
Slc22a3	G	A	17: 12,433,631	L369F	possibly damaging	Het
Smad6	G	T	9: 64,021,787	D82E	unknown	Het
Smgc	A	T	15: 91,852,608	I463F	possibly damaging	Het
Strada	C	A	11: 106,171,039	G166C	probably damaging	Het
Tcaf3	A	G	6: 42,593,891	V309A	probably benign	Het
Tet2	C	T	3: 133,469,591	E1332K	possibly damaging	Het
Tfcp2l1	A	G	1: 118,668,632	N366D	probably damaging	Het
Tll2	G	A	19: 41,117,284	P369L	possibly damaging	Het
Tox4	T	C	14: 52,292,097	V505A	probably benign	Het
Trbv4	A	G	6: 41,059,853	D104G	probably damaging	Het
Ugdh	T	C	5: 65,417,037	E416G	probably damaging	Het
Usp47	T	A	7: 112,087,013	C613S	probably damaging	Het
Vmn1r11	T	A	6: 57,138,162	N270K	probably benign	Het
Wsb2	T	A	5: 117,371,095	L147Q	probably damaging	Het
Xrn1	G	A	9: 95,979,145	A453T	possibly damaging	Het
Zan	A	G	5: 137,461,844	S1262P	unknown	Het
Zswim4	A	G	8: 84,219,927	L700P	probably damaging	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	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
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'- CAGTAGGAGTCCTTTCATCTGG -3'
(R):5'- TAAGCTCAAAGGTGGCAGGC -3'

Sequencing Primer
(F):5'- TCTGAATGCCTCATCAAGATGGC -3'
(R):5'- AGGCCCATTGCTGCTGTG -3'

Posted On

2019-06-26