Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01060:Map3k6'

50823

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: 0.297) question?

Stock #

IGL01060

Quality Score

Status

Chromosome

Chromosomal Location

132968129-132980240 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to T at 132974613 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 null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134895

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Anks4b	A	G	7: 119,773,148 (GRCm39)	T3A	possibly damaging	Het
Arhgef26	T	A	3: 62,247,542 (GRCm39)	S209T	probably benign	Het
Ccdc78	A	G	17: 26,007,806 (GRCm39)	D281G	probably damaging	Het
Ccnb3	A	T	X: 6,846,513 (GRCm39)	N1362K	probably benign	Het
Dnah2	T	C	11: 69,368,918 (GRCm39)	N1662S	possibly damaging	Het
Elp1	C	T	4: 56,784,537 (GRCm39)		probably null	Het
Ern2	T	A	7: 121,769,315 (GRCm39)	R904W	probably damaging	Het
Fam120c	C	T	X: 150,252,583 (GRCm39)	P1045S	probably benign	Het
Gm12887	C	T	4: 121,473,610 (GRCm39)		probably benign	Het
Gpld1	G	A	13: 25,166,549 (GRCm39)	G627S	probably damaging	Het
Krt77	T	A	15: 101,769,315 (GRCm39)		probably benign	Het
Ltf	A	T	9: 110,851,950 (GRCm39)		probably null	Het
Nsd1	G	A	13: 55,411,242 (GRCm39)	G1431D	probably damaging	Het
Plekhm2	C	T	4: 141,369,956 (GRCm39)		probably null	Het
Popdc2	T	A	16: 38,194,327 (GRCm39)	N249K	probably damaging	Het
Ppm1h	A	G	10: 122,743,476 (GRCm39)	D400G	possibly damaging	Het
Rps6ka1	A	T	4: 133,588,181 (GRCm39)	S320T	probably damaging	Het
Rsph6a	C	T	7: 18,788,793 (GRCm39)	R42*	probably null	Het
Sap130	T	C	18: 31,848,496 (GRCm39)	L967P	probably damaging	Het
Smyd2	T	C	1: 189,629,667 (GRCm39)	E121G	possibly damaging	Het
Sspo	G	A	6: 48,426,413 (GRCm39)	W144*	probably null	Het
Taar6	A	G	10: 23,860,970 (GRCm39)	V192A	probably benign	Het
Tbc1d24	A	T	17: 24,404,802 (GRCm39)	V114E	probably damaging	Het
Trim16	T	C	11: 62,711,530 (GRCm39)	I67T	probably benign	Het
Ttll7	A	G	3: 146,615,337 (GRCm39)	D267G	possibly damaging	Het
Ttn	T	C	2: 76,720,073 (GRCm39)		probably benign	Het
Vmn2r56	T	A	7: 12,447,016 (GRCm39)	I379F	probably damaging	Het
Zfp14	T	C	7: 29,737,510 (GRCm39)	T492A	probably damaging	Het

Other mutations in Map3k6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Map3k6	APN	4	132,970,355 (GRCm39)	splice site	probably benign
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

2013-06-21