Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02383:Map3k6'

291476

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, MAPKKK6, MEKK6

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.346) question?

Stock #

IGL02383

Quality Score

Status

Chromosome

Chromosomal Location

133240818-133252929 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 133246621 bp (GRCm38)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	T	C	6: 133,292,242		probably benign	Het
Adap2	C	A	11: 80,160,189	A115D	probably damaging	Het
Ankrd1	A	G	19: 36,119,765	V6A	probably benign	Het
Apobr	T	A	7: 126,586,607	V430E	probably benign	Het
Apopt1	T	A	12: 111,724,413		probably benign	Het
Arhgap28	A	G	17: 67,896,089	V123A	probably benign	Het
Atp2b2	A	G	6: 113,813,942	V167A	probably damaging	Het
B3galnt2	A	T	13: 13,997,033	*505C	probably null	Het
Bcat2	T	A	7: 45,588,007	L305Q	probably damaging	Het
Col9a1	T	C	1: 24,185,258	S174P	unknown	Het
Ddx41	A	T	13: 55,532,357	D418E	probably benign	Het
Exoc6	T	C	19: 37,578,474	F240L	probably benign	Het
Fbln7	G	A	2: 128,895,557	V431I	probably benign	Het
Gfral	T	A	9: 76,197,092	N213Y	probably damaging	Het
Gm15292	A	G	8: 21,250,361	D61G	probably damaging	Het
Golgb1	A	G	16: 36,886,200	D22G	probably benign	Het
H2-M1	G	A	17: 36,670,249	T298I	unknown	Het
Haus3	A	T	5: 34,166,236	Y343*	probably null	Het
Hid1	T	C	11: 115,352,620	E534G	probably damaging	Het
Il4ra	T	C	7: 125,571,504	V196A	probably benign	Het
Itm2b	C	A	14: 73,363,096	E255*	probably null	Het
Kidins220	A	T	12: 24,997,333		probably benign	Het
Klhl22	T	A	16: 17,776,898	F297Y	possibly damaging	Het
Krt9	T	C	11: 100,191,215	E253G	probably damaging	Het
Man2a2	G	A	7: 80,359,640	A822V	probably damaging	Het
Med29	C	A	7: 28,387,023	R120L	possibly damaging	Het
Napa	C	T	7: 16,112,578		probably benign	Het
Ncapd3	T	A	9: 27,050,328	Y351N	probably benign	Het
Nphs1	C	T	7: 30,481,635		probably benign	Het
Olfr1442	A	G	19: 12,674,535	D110G	probably benign	Het
Prss16	T	C	13: 22,009,527	I33V	probably benign	Het
Ripk1	A	G	13: 34,015,244	Y193C	probably damaging	Het
Rph3a	C	T	5: 120,963,939	R78H	probably damaging	Het
Rrp9	T	A	9: 106,485,272	I452N	probably damaging	Het
Ryr2	A	T	13: 11,722,721		probably benign	Het
Sec23a	A	G	12: 59,002,027	L103P	probably damaging	Het
Slc17a9	A	C	2: 180,735,881	D190A	probably benign	Het
Slc44a4	G	A	17: 34,927,710	V422I	probably benign	Het
Smc5	C	T	19: 23,214,632		probably benign	Het
Tax1bp1	C	T	6: 52,753,366	S611F	probably benign	Het
Tmem38b	G	A	4: 53,854,345	M192I	probably benign	Het
Unc45a	G	T	7: 80,339,662	C34*	probably null	Het
Usp46	T	A	5: 74,029,353	M6L	probably benign	Het
Uspl1	G	A	5: 149,213,402	V471M	probably damaging	Het
Vmn1r35	T	A	6: 66,678,891	Q265L	probably damaging	Het
Vmn1r35	G	T	6: 66,678,892	Q265K	probably damaging	Het
Vmn1r50	A	G	6: 90,107,479	I69V	possibly damaging	Het
Vps33b	A	G	7: 80,285,334		probably null	Het
Xntrpc	A	C	7: 102,093,595	D604A	probably damaging	Het
Yeats4	T	A	10: 117,215,811	R180S	probably benign	Het

Other mutations in Map3k6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Map3k6	APN	4	133243044	splice site	probably benign
IGL01060:Map3k6	APN	4	133247302	splice site	probably null
IGL01116:Map3k6	APN	4	133247128	missense	probably damaging	0.98
IGL01341:Map3k6	APN	4	133248060	missense	possibly damaging	0.67
IGL03090:Map3k6	APN	4	133243366	missense	probably benign	0.05
IGL03096:Map3k6	APN	4	133251345	nonsense	probably null
IGL03149:Map3k6	APN	4	133249688	missense	probably damaging	1.00
R0110:Map3k6	UTSW	4	133243794	missense	probably damaging	1.00
R0142:Map3k6	UTSW	4	133250946	missense	probably benign
R0189:Map3k6	UTSW	4	133246941	missense	possibly damaging	0.46
R0368:Map3k6	UTSW	4	133252659	missense	probably benign	0.23
R0417:Map3k6	UTSW	4	133248082	nonsense	probably null
R0595:Map3k6	UTSW	4	133241263	missense	probably damaging	0.98
R0597:Map3k6	UTSW	4	133245552	missense	possibly damaging	0.46
R0699:Map3k6	UTSW	4	133248126	missense	probably damaging	1.00
R1099:Map3k6	UTSW	4	133247128	missense	probably damaging	1.00
R1113:Map3k6	UTSW	4	133245815	missense	probably damaging	1.00
R1308:Map3k6	UTSW	4	133245815	missense	probably damaging	1.00
R1607:Map3k6	UTSW	4	133252473	missense	probably damaging	1.00
R2217:Map3k6	UTSW	4	133246672	missense	possibly damaging	0.46
R3734:Map3k6	UTSW	4	133248396	missense	possibly damaging	0.79
R3735:Map3k6	UTSW	4	133246372	missense	probably benign	0.21
R3743:Map3k6	UTSW	4	133245073	missense	probably benign	0.26
R4244:Map3k6	UTSW	4	133251947	missense	possibly damaging	0.65
R4245:Map3k6	UTSW	4	133251947	missense	possibly damaging	0.65
R4465:Map3k6	UTSW	4	133246333	missense	possibly damaging	0.66
R4482:Map3k6	UTSW	4	133243399	missense	probably benign	0.00
R4827:Map3k6	UTSW	4	133248849	missense	possibly damaging	0.92
R5092:Map3k6	UTSW	4	133251743	missense	probably benign	0.00
R5110:Map3k6	UTSW	4	133247548	intron	probably benign
R5258:Map3k6	UTSW	4	133247642	missense	possibly damaging	0.81
R5369:Map3k6	UTSW	4	133247681	missense	probably damaging	0.99
R5642:Map3k6	UTSW	4	133245544	missense	probably damaging	0.99
R5648:Map3k6	UTSW	4	133243335	missense	probably benign	0.25
R6102:Map3k6	UTSW	4	133247131	critical splice donor site	probably null
R6144:Map3k6	UTSW	4	133245675	missense	probably damaging	1.00
R6476:Map3k6	UTSW	4	133250086	missense	probably damaging	0.98
R6511:Map3k6	UTSW	4	133248078	missense	probably damaging	0.98
R6522:Map3k6	UTSW	4	133250024	missense	possibly damaging	0.65
R6706:Map3k6	UTSW	4	133250939	nonsense	probably null
R6874:Map3k6	UTSW	4	133250656	missense	probably benign	0.02
R7069:Map3k6	UTSW	4	133251712	missense	probably benign	0.01
R7216:Map3k6	UTSW	4	133246900	missense	probably damaging	0.99
R7417:Map3k6	UTSW	4	133248396	missense	probably benign	0.43
R7538:Map3k6	UTSW	4	133251927	missense	probably benign
R7569:Map3k6	UTSW	4	133250077	missense	probably benign	0.04
R8003:Map3k6	UTSW	4	133248882	missense	probably benign	0.05
R8407:Map3k6	UTSW	4	133247593	missense	possibly damaging	0.95
R8817:Map3k6	UTSW	4	133246760	missense	probably benign	0.00
R8939:Map3k6	UTSW	4	133252643	unclassified	probably benign
R9285:Map3k6	UTSW	4	133245559	missense	probably damaging	1.00
R9308:Map3k6	UTSW	4	133243411	missense	probably damaging	1.00
R9400:Map3k6	UTSW	4	133241156	missense	probably damaging	1.00
R9401:Map3k6	UTSW	4	133241156	missense	probably damaging	1.00
R9573:Map3k6	UTSW	4	133252463	missense	probably damaging	0.99
R9677:Map3k6	UTSW	4	133241116	missense	probably benign	0.04
R9682:Map3k6	UTSW	4	133248108	missense	possibly damaging	0.61
R9745:Map3k6	UTSW	4	133252472	missense	probably damaging	1.00
R9751:Map3k6	UTSW	4	133251857	critical splice acceptor site	probably null
Z1088:Map3k6	UTSW	4	133245066	missense	probably damaging	0.99

Posted On

2015-04-16