Mutagenetix > Incidental Mutation

Incidental Mutation 'R4482:Map3k6'

331458

Institutional Source

Beutler Lab

Gene Symbol

Map3k6

Ensembl Gene

ENSMUSG00000028862

Gene Name

mitogen-activated protein kinase kinase kinase 6

Synonyms

Ask2, MEKK6, MAPKKK6

MMRRC Submission

041738-MU

Accession Numbers

Essential gene?

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

Stock #

R4482 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132968129-132980240 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132970710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 199 (I199T)

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
AA Change: I199T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: I199T

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

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	A	G	11: 3,845,008 (GRCm39)	V27A	possibly damaging	Het
Actn3	A	T	19: 4,913,436 (GRCm39)		probably null	Het
Adamts20	T	C	15: 94,243,801 (GRCm39)	Y642C	probably damaging	Het
Ankrd11	T	C	8: 123,620,228 (GRCm39)	D1187G	probably damaging	Het
Bag4	T	C	8: 26,275,072 (GRCm39)		probably benign	Het
Bsn	C	A	9: 107,991,863 (GRCm39)	K1296N	probably damaging	Het
Cct5	T	C	15: 31,597,715 (GRCm39)	D58G	probably damaging	Het
Cyp4a10	T	C	4: 115,389,795 (GRCm39)	F467L	probably damaging	Het
Dicer1	A	G	12: 104,672,536 (GRCm39)	Y904H	probably damaging	Het
Fbn1	A	T	2: 125,205,530 (GRCm39)		probably null	Het
Fhip1b	A	T	7: 105,038,881 (GRCm39)	F119L	probably benign	Het
Git1	T	A	11: 77,391,333 (GRCm39)	Y189N	possibly damaging	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Itga6	T	A	2: 71,686,259 (GRCm39)	I1059N	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kbtbd3	A	T	9: 4,331,051 (GRCm39)	Y475F	probably damaging	Het
Mtmr7	T	C	8: 41,007,425 (GRCm39)	M503V	probably benign	Het
Muc4	A	G	16: 32,577,075 (GRCm39)	T2192A	unknown	Het
Nexn	T	C	3: 151,948,390 (GRCm39)	E391G	probably damaging	Het
Or5h22	G	T	16: 58,895,286 (GRCm39)	H52Q	probably benign	Het
Parg	A	G	14: 31,984,731 (GRCm39)	I254V	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pomt2	G	A	12: 87,178,604 (GRCm39)	P290S	probably benign	Het
Rasl10a	T	A	11: 5,008,429 (GRCm39)	Y42N	probably damaging	Het
Slc4a8	C	A	15: 100,708,480 (GRCm39)	F871L	probably damaging	Het
Tdrd9	T	C	12: 111,980,935 (GRCm39)		probably null	Het
Trim21	G	A	7: 102,213,140 (GRCm39)	Q53*	probably null	Het
Triobp	T	C	15: 78,850,763 (GRCm39)	S306P	possibly damaging	Het
Vasn	A	T	16: 4,466,190 (GRCm39)	T46S	possibly damaging	Het
Wmp	T	A	X: 106,990,237 (GRCm39)	L225F	possibly damaging	Het
Zfp236	A	T	18: 82,662,346 (GRCm39)	F529Y	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CATCCTTTTGTGACGTGCGG -3'
(R):5'- CCGCTGATGTCCAAGATCAG -3'

Sequencing Primer
(F):5'- ATTCCTATCTTCACCAGTACTAACCG -3'
(R):5'- AGAGAGATATGAGCCTGCCCCTC -3'

Posted On

2015-07-21