Mutagenetix > Incidental Mutation

Incidental Mutation 'R9400:Map3k6'

711041

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.312) question?

Stock #

R9400 (G1)

Quality Score

168.009

Status

Not validated

Chromosome

Chromosomal Location

133240818-133252929 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 133241156 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 23 (A23E)

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: A23E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: A23E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	G	17: 8,992,286	N89S	probably benign	Het
9930111J21Rik1	C	T	11: 48,948,417	E448K	possibly damaging	Het
Acer1	G	A	17: 56,981,990	T40M	probably damaging	Het
Adam1a	T	C	5: 121,519,830	T467A	probably benign	Het
Agmat	A	G	4: 141,749,670	D129G	probably damaging	Het
Ak8	T	A	2: 28,759,999	I346N	probably benign	Het
Ankrd12	A	T	17: 65,984,880	V1186E	probably damaging	Het
Ankrd27	T	G	7: 35,616,857	L516R	probably damaging	Het
Aplp2	C	A	9: 31,164,559	R402L	possibly damaging	Het
Aspm	A	G	1: 139,479,903	Y2176C	probably damaging	Het
Boc	T	C	16: 44,499,481	D380G		Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Chst2	T	C	9: 95,405,589	S235G	probably benign	Het
Clca4b	A	G	3: 144,911,192	V899A	probably benign	Het
Ddx1	A	G	12: 13,223,702	S617P	probably damaging	Het
Etv5	A	T	16: 22,401,726	F304I	probably benign	Het
Fmo9	T	G	1: 166,677,674	E50A	probably benign	Het
Gbp11	T	C	5: 105,330,975	E199G	probably damaging	Het
Gemin5	C	T	11: 58,137,715	G893D	probably damaging	Het
Gorab	G	T	1: 163,396,998	P78Q	probably damaging	Het
Gprc5a	A	G	6: 135,078,560	T2A	probably benign	Het
Gtf3c1	A	G	7: 125,676,511	I581T	probably damaging	Het
H6pd	A	G	4: 149,995,791	F199S	probably damaging	Het
Hdac3	A	T	18: 37,937,624	V426E	possibly damaging	Het
Jag2	G	T	12: 112,911,988	Y838*	probably null	Het
Kat6b	G	T	14: 21,609,758	R210L	probably damaging	Het
Kctd11	C	A	11: 69,879,718	E165*	probably null	Het
Knl1	T	C	2: 119,100,743	V1980A	probably damaging	Het
Lilr4b	T	C	10: 51,481,223	S52P	probably benign	Het
Lrp5	T	G	19: 3,585,272	M1535L	probably benign	Het
Lrr1	A	G	12: 69,174,702	D206G	probably benign	Het
Lrrd1	G	A	5: 3,849,677		probably benign	Het
Mgat4a	T	C	1: 37,462,944	D241G	probably damaging	Het
Mpzl3	A	G	9: 45,074,779	Y237C	possibly damaging	Het
Mroh1	A	G	15: 76,451,893	E1489G	possibly damaging	Het
Myocd	T	C	11: 65,196,108	H331R	probably benign	Het
Myoz1	T	A	14: 20,649,436	H278L	probably benign	Het
Olfr102	A	T	17: 37,313,663	C240*	probably null	Het
Olfr1199	A	G	2: 88,755,949	I242T	possibly damaging	Het
Olfr1441	C	A	19: 12,422,910	N200K	possibly damaging	Het
Olfr1449	T	A	19: 12,935,514	Y259N	probably damaging	Het
Olfr1454	T	A	19: 13,063,775	Y121*	probably null	Het
Olfr381	A	T	11: 73,485,981	V281E	probably damaging	Het
Otof	A	T	5: 30,383,519		probably null	Het
Pcdha1	A	G	18: 36,931,707	I475V	probably benign	Het
Pcgf1	A	G	6: 83,080,085	E199G	possibly damaging	Het
Pip	C	A	6: 41,851,848	T109K	probably benign	Het
Slc12a7	A	G	13: 73,784,570	E59G	probably benign	Het
Slc38a2	T	C	15: 96,693,172	I237V	probably benign	Het
Slc6a5	T	C	7: 49,945,519	V543A	probably benign	Het
Slc9a2	T	C	1: 40,719,051	V250A	possibly damaging	Het
Smarcad1	T	C	6: 65,073,230	Y278H	probably damaging	Het
Snx7	A	T	3: 117,837,214	N248K	probably benign	Het
Spata6	T	A	4: 111,720,231	C9S	probably benign	Het
Stra6l	T	A	4: 45,885,293	L587Q	probably damaging	Het
Tmem131l	G	T	3: 83,922,986	N916K	possibly damaging	Het
Tmprss11c	C	T	5: 86,237,657	V319I	probably benign	Het
Tpo	A	T	12: 30,119,442	I98K	possibly damaging	Het
Umodl1	A	G	17: 30,996,393	T1064A	probably damaging	Het
Vldlr	T	C	19: 27,238,775	I332T	probably damaging	Het
Wdr75	T	A	1: 45,803,904	L133Q	probably damaging	Het
Zdhhc21	T	C	4: 82,835,450	N167S	probably benign	Het
Zfp37	A	T	4: 62,191,667	C428S	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
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
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'- TTAAGAGTTCCGGAACAGGAC -3'
(R):5'- GTTGTAGAAGGAGTCCAGCG -3'

Sequencing Primer
(F):5'- TTCCGGAACAGGACGTCCAG -3'
(R):5'- TCGCAAAGGGTAGGCTGC -3'

Posted On

2022-04-20