Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00922:Map3k6'

27244

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map3k6

Ensembl Gene

ENSMUSG00000028862

Gene Name

mitogen-activated protein kinase kinase kinase 6

Synonyms

Ask2, MEKK6, MAPKKK6

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

IGL00922

Quality Score

Status

Chromosome

Chromosomal Location

132968129-132980240 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 132970355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030677]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030677

SMART Domains

Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862

Domain	Start	End	E-Value	Type
low complexity region	98	109	N/A	INTRINSIC
Pfam:DUF4071	130	508	2.3e-150	PFAM
S_TKc	649	907	3.49e-87	SMART
low complexity region	925	940	N/A	INTRINSIC
low complexity region	947	960	N/A	INTRINSIC
low complexity region	975	990	N/A	INTRINSIC
low complexity region	1130	1146	N/A	INTRINSIC
coiled coil region	1164	1195	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127681

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase that forms a component of protein kinase-mediated signal transduction cascades. The encoded kinase participates in the regulation of vascular endothelial growth factor (VEGF) expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous and heterozygous null mice display an increased incidence of chemically induced skin tumors and homozygous mice also show resistance to induced apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016L21Rik	T	C	5: 115,085,236 (GRCm39)		probably null	Het
Atr	T	A	9: 95,789,398 (GRCm39)	M1518K	probably damaging	Het
Baiap2l1	C	T	5: 144,255,777 (GRCm39)	G59D	probably damaging	Het
BC051019	C	A	7: 109,319,883 (GRCm39)	C60F	probably benign	Het
Brms1l	A	G	12: 55,892,111 (GRCm39)	Y135C	probably benign	Het
Cachd1	T	A	4: 100,824,163 (GRCm39)	S535T	probably benign	Het
Chkb	C	T	15: 89,306,491 (GRCm39)		probably null	Het
Coa7	G	T	4: 108,195,505 (GRCm39)	G145C	possibly damaging	Het
Cobl	T	A	11: 12,204,866 (GRCm39)	D605V	probably damaging	Het
Ddx54	T	A	5: 120,761,875 (GRCm39)		probably null	Het
Dnah6	A	T	6: 73,010,509 (GRCm39)		probably benign	Het
Dnaja2	A	T	8: 86,281,866 (GRCm39)	V4E	probably damaging	Het
Dnajc22	T	G	15: 98,999,460 (GRCm39)	L215R	possibly damaging	Het
Drc7	G	A	8: 95,804,606 (GRCm39)	V874I	probably benign	Het
Foxa2	A	C	2: 147,886,738 (GRCm39)	S26A	possibly damaging	Het
Gal	A	T	19: 3,461,575 (GRCm39)	V70E	probably benign	Het
Gjb4	T	C	4: 127,245,146 (GRCm39)	Y265C	probably benign	Het
Hc	A	G	2: 34,881,680 (GRCm39)	S1423P	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kash5	T	C	7: 44,834,730 (GRCm39)	E532G	possibly damaging	Het
Matn1	A	T	4: 130,680,285 (GRCm39)	Q454L	probably benign	Het
Mlxip	A	T	5: 123,578,128 (GRCm39)	N148I	probably damaging	Het
Mre11a	T	C	9: 14,710,884 (GRCm39)	F193L	probably damaging	Het
Myo1h	T	C	5: 114,498,546 (GRCm39)	Y881H	probably damaging	Het
Nphp4	C	T	4: 152,621,766 (GRCm39)		probably benign	Het
Or6c3b	T	G	10: 129,527,323 (GRCm39)	I196L	probably benign	Het
Ptpn13	T	A	5: 103,735,954 (GRCm39)	V2151D	probably damaging	Het
Rnf141	T	C	7: 110,432,941 (GRCm39)		probably benign	Het
Rpe65	A	C	3: 159,320,179 (GRCm39)	D277A	probably damaging	Het
Sec14l1	C	T	11: 117,044,055 (GRCm39)	T521M	possibly damaging	Het
Slc25a30	A	T	14: 76,007,038 (GRCm39)	Y153N	probably damaging	Het
Slc6a12	C	T	6: 121,337,414 (GRCm39)	A366V	probably damaging	Het
Trp53bp1	T	A	2: 121,038,963 (GRCm39)	T1367S	probably damaging	Het
Vmn2r71	T	G	7: 85,267,901 (GRCm39)	S118R	probably benign	Het

Other mutations in Map3k6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Map3k6	APN	4	132,974,613 (GRCm39)	splice site	probably null
IGL01116:Map3k6	APN	4	132,974,439 (GRCm39)	missense	probably damaging	0.98
IGL01341:Map3k6	APN	4	132,975,371 (GRCm39)	missense	possibly damaging	0.67
IGL02383:Map3k6	APN	4	132,973,932 (GRCm39)	splice site	probably null
IGL03090:Map3k6	APN	4	132,970,677 (GRCm39)	missense	probably benign	0.05
IGL03096:Map3k6	APN	4	132,978,656 (GRCm39)	nonsense	probably null
IGL03149:Map3k6	APN	4	132,976,999 (GRCm39)	missense	probably damaging	1.00
R0110:Map3k6	UTSW	4	132,971,105 (GRCm39)	missense	probably damaging	1.00
R0142:Map3k6	UTSW	4	132,978,257 (GRCm39)	missense	probably benign
R0189:Map3k6	UTSW	4	132,974,252 (GRCm39)	missense	possibly damaging	0.46
R0368:Map3k6	UTSW	4	132,979,970 (GRCm39)	missense	probably benign	0.23
R0417:Map3k6	UTSW	4	132,975,393 (GRCm39)	nonsense	probably null
R0595:Map3k6	UTSW	4	132,968,574 (GRCm39)	missense	probably damaging	0.98
R0597:Map3k6	UTSW	4	132,972,863 (GRCm39)	missense	possibly damaging	0.46
R0699:Map3k6	UTSW	4	132,975,437 (GRCm39)	missense	probably damaging	1.00
R1099:Map3k6	UTSW	4	132,974,439 (GRCm39)	missense	probably damaging	1.00
R1113:Map3k6	UTSW	4	132,973,126 (GRCm39)	missense	probably damaging	1.00
R1308:Map3k6	UTSW	4	132,973,126 (GRCm39)	missense	probably damaging	1.00
R1607:Map3k6	UTSW	4	132,979,784 (GRCm39)	missense	probably damaging	1.00
R2217:Map3k6	UTSW	4	132,973,983 (GRCm39)	missense	possibly damaging	0.46
R3734:Map3k6	UTSW	4	132,975,707 (GRCm39)	missense	possibly damaging	0.79
R3735:Map3k6	UTSW	4	132,973,683 (GRCm39)	missense	probably benign	0.21
R3743:Map3k6	UTSW	4	132,972,384 (GRCm39)	missense	probably benign	0.26
R4244:Map3k6	UTSW	4	132,979,258 (GRCm39)	missense	possibly damaging	0.65
R4245:Map3k6	UTSW	4	132,979,258 (GRCm39)	missense	possibly damaging	0.65
R4465:Map3k6	UTSW	4	132,973,644 (GRCm39)	missense	possibly damaging	0.66
R4482:Map3k6	UTSW	4	132,970,710 (GRCm39)	missense	probably benign	0.00
R4827:Map3k6	UTSW	4	132,976,160 (GRCm39)	missense	possibly damaging	0.92
R5092:Map3k6	UTSW	4	132,979,054 (GRCm39)	missense	probably benign	0.00
R5110:Map3k6	UTSW	4	132,974,859 (GRCm39)	intron	probably benign
R5258:Map3k6	UTSW	4	132,974,953 (GRCm39)	missense	possibly damaging	0.81
R5369:Map3k6	UTSW	4	132,974,992 (GRCm39)	missense	probably damaging	0.99
R5642:Map3k6	UTSW	4	132,972,855 (GRCm39)	missense	probably damaging	0.99
R5648:Map3k6	UTSW	4	132,970,646 (GRCm39)	missense	probably benign	0.25
R6102:Map3k6	UTSW	4	132,974,442 (GRCm39)	critical splice donor site	probably null
R6144:Map3k6	UTSW	4	132,972,986 (GRCm39)	missense	probably damaging	1.00
R6476:Map3k6	UTSW	4	132,977,397 (GRCm39)	missense	probably damaging	0.98
R6511:Map3k6	UTSW	4	132,975,389 (GRCm39)	missense	probably damaging	0.98
R6522:Map3k6	UTSW	4	132,977,335 (GRCm39)	missense	possibly damaging	0.65
R6706:Map3k6	UTSW	4	132,978,250 (GRCm39)	nonsense	probably null
R6874:Map3k6	UTSW	4	132,977,967 (GRCm39)	missense	probably benign	0.02
R7069:Map3k6	UTSW	4	132,979,023 (GRCm39)	missense	probably benign	0.01
R7216:Map3k6	UTSW	4	132,974,211 (GRCm39)	missense	probably damaging	0.99
R7417:Map3k6	UTSW	4	132,975,707 (GRCm39)	missense	probably benign	0.43
R7538:Map3k6	UTSW	4	132,979,238 (GRCm39)	missense	probably benign
R7569:Map3k6	UTSW	4	132,977,388 (GRCm39)	missense	probably benign	0.04
R8003:Map3k6	UTSW	4	132,976,193 (GRCm39)	missense	probably benign	0.05
R8407:Map3k6	UTSW	4	132,974,904 (GRCm39)	missense	possibly damaging	0.95
R8817:Map3k6	UTSW	4	132,974,071 (GRCm39)	missense	probably benign	0.00
R8939:Map3k6	UTSW	4	132,979,954 (GRCm39)	unclassified	probably benign
R9285:Map3k6	UTSW	4	132,972,870 (GRCm39)	missense	probably damaging	1.00
R9308:Map3k6	UTSW	4	132,970,722 (GRCm39)	missense	probably damaging	1.00
R9400:Map3k6	UTSW	4	132,968,467 (GRCm39)	missense	probably damaging	1.00
R9401:Map3k6	UTSW	4	132,968,467 (GRCm39)	missense	probably damaging	1.00
R9573:Map3k6	UTSW	4	132,979,774 (GRCm39)	missense	probably damaging	0.99
R9677:Map3k6	UTSW	4	132,968,427 (GRCm39)	missense	probably benign	0.04
R9682:Map3k6	UTSW	4	132,975,419 (GRCm39)	missense	possibly damaging	0.61
R9745:Map3k6	UTSW	4	132,979,783 (GRCm39)	missense	probably damaging	1.00
R9751:Map3k6	UTSW	4	132,979,168 (GRCm39)	critical splice acceptor site	probably null
Z1088:Map3k6	UTSW	4	132,972,377 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-04-17