Mutagenetix > Incidental Mutation

Incidental Mutation 'R6144:Map3k6'

488727

Institutional Source

Beutler Lab

Gene Symbol

Map3k6

Ensembl Gene

ENSMUSG00000028862

Gene Name

mitogen-activated protein kinase kinase kinase 6

Synonyms

Ask2, MAPKKK6, MEKK6

MMRRC Submission

044291-MU

Accession Numbers

Essential gene?

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

Stock #

R6144 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133240818-133252929 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 133245675 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 382 (W382G)

Ref Sequence

ENSEMBL: ENSMUSP00000030677 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030677
AA Change: W382G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: W382G

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

Meta Mutation Damage Score

0.7973

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

96% (65/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3300002I08Rik	A	T	2: 150,344,644	D40E	possibly damaging	Het
4921517D22Rik	C	T	13: 59,689,533	R246H	probably damaging	Het
Agbl1	A	G	7: 76,420,084	T203A	probably benign	Het
Alms1	T	A	6: 85,623,074	D2096E	probably damaging	Het
Ankrd53	T	C	6: 83,762,657		probably benign	Het
Arap3	C	A	18: 37,985,433	G814C	probably damaging	Het
Armc9	T	G	1: 86,244,579	I5S	probably benign	Het
Catsperg1	T	C	7: 29,210,695	T74A	probably damaging	Het
Ccpg1os	C	A	9: 72,979,988	C79F	probably damaging	Het
Cdca7l	T	A	12: 117,873,711		probably null	Het
Cfhr2	T	A	1: 139,805,415		probably benign	Het
Chpt1	A	G	10: 88,453,093		probably benign	Het
Cntrl	A	C	2: 35,165,733	D1213A	possibly damaging	Het
Col7a1	C	T	9: 108,974,080	R2149C	unknown	Het
Cpa4	T	C	6: 30,585,083	S289P	probably damaging	Het
Cpsf3	G	A	12: 21,306,886		probably null	Het
Creb3l1	T	C	2: 91,992,005	H212R	possibly damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Cyp2c29	A	G	19: 39,321,609	D254G	possibly damaging	Het
Ddx58	T	C	4: 40,229,551	I78V	probably benign	Het
Dennd1b	A	G	1: 139,081,255	H232R	probably damaging	Het
Dhx29	T	C	13: 112,964,571	L1216P	probably damaging	Het
Dsg1b	T	C	18: 20,396,419	I307T	possibly damaging	Het
Ep300	A	G	15: 81,601,234	S141G	unknown	Het
Evl	A	C	12: 108,653,031	K101T	probably damaging	Het
Exph5	G	A	9: 53,373,028	G470R	probably benign	Het
Fam126a	T	C	5: 23,966,369	S352G	possibly damaging	Het
Flg	A	T	3: 93,283,208		probably benign	Het
Gm45704	T	A	8: 72,784,292			Het
Grm1	T	C	10: 11,079,896	M215V	probably benign	Het
Hadha	T	C	5: 30,140,996	D210G	probably benign	Het
Hmcn1	T	C	1: 150,722,424	Y1709C	probably damaging	Het
Hrc	A	T	7: 45,336,733	H436L	possibly damaging	Het
Ido1	T	A	8: 24,585,290	T259S	possibly damaging	Het
Itgb7	C	A	15: 102,223,482	R222L	probably benign	Het
Khnyn	T	C	14: 55,887,839	V485A	probably damaging	Het
Kifc5b	T	C	17: 26,921,852	V100A	probably benign	Het
Lsm10	T	C	4: 126,098,001	M50T	probably damaging	Het
Mink1	T	A	11: 70,610,652	F922I	possibly damaging	Het
Mpp5	T	C	12: 78,824,789	V381A	possibly damaging	Het
Mrap2	T	C	9: 87,175,818	V53A	probably damaging	Het
Mrps7	C	A	11: 115,604,174	A5E	probably benign	Het
Muc4	A	G	16: 32,766,924	N2713S	possibly damaging	Het
Nckipsd	T	C	9: 108,812,386	S249P	probably damaging	Het
Neil3	T	C	8: 53,599,412	T384A	probably benign	Het
Noc3l	A	T	19: 38,798,955	I504K	probably damaging	Het
Nudt13	A	G	14: 20,307,771	N107S	probably benign	Het
Olfr134	T	A	17: 38,175,225	L47H	probably damaging	Het
Olfr368	T	A	2: 37,332,113	M122K	probably damaging	Het
Olfr747	C	A	14: 50,680,935	R233L	probably benign	Het
Otub1	G	T	19: 7,199,153	Y205*	probably null	Het
Plpp7	T	A	2: 32,096,088	S93T	probably damaging	Het
Pxk	T	G	14: 8,138,011	Y188D	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rpap1	A	T	2: 119,772,647	C602*	probably null	Het
Sbds	T	C	5: 130,246,344	K248E	probably benign	Het
Serpina10	A	T	12: 103,628,833	N42K	probably benign	Het
Slc7a8	A	G	14: 54,729,340	L368P	probably damaging	Het
Srrm1	T	C	4: 135,337,873		probably benign	Het
Sun2	C	T	15: 79,730,332	V288I	probably benign	Het
Tas2r107	C	A	6: 131,660,003	A28S	possibly damaging	Het
Tbc1d9b	T	C	11: 50,146,328	I268T	probably benign	Het
Tjp2	A	G	19: 24,120,073	F495L	probably damaging	Het
Top2b	T	C	14: 16,423,740	L1434P	possibly damaging	Het
Top3b	A	G	16: 16,879,141		probably null	Het
Trdv2-2	A	T	14: 53,961,304	E17V	possibly damaging	Het
Ttc6	T	A	12: 57,673,100	L819Q	possibly damaging	Het
Txlnb	A	G	10: 17,843,166	T582A	probably benign	Het
Zfp788	T	C	7: 41,649,769	S558P	probably damaging	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
IGL02383:Map3k6	APN	4	133246621	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- ACAGGTCTTCAGTGCATGTTCC -3'
(R):5'- TCAGAGTCTTCGAAATGCTGCC -3'

Sequencing Primer
(F):5'- AGTGCATGTTCCTCCGCCTTAG -3'
(R):5'- TGCCCAGCTGCAATGAG -3'

Posted On

2017-10-10