Mutagenetix > Incidental Mutation

Incidental Mutation 'R7417:Map3k6'

575373

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

045495-MU

Accession Numbers

Essential gene?

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

Stock #

R7417 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132968129-132980240 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132975707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 732 (S732T)

Ref Sequence

ENSEMBL: ENSMUSP00000030677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030674] [ENSMUST00000030677] [ENSMUST00000105908]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030674

SMART Domains

Protein: ENSMUSP00000030674
Gene: ENSMUSG00000028860

Domain	Start	End	E-Value	Type
PDB:3BC1\|F	40	92	2e-9	PDB
low complexity region	169	183	N/A	INTRINSIC
low complexity region	235	262	N/A	INTRINSIC
C2	288	389	2.36e-17	SMART
C2	429	532	6.96e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000030677
AA Change: S732T

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: S732T

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

probably benign
Transcript: ENSMUST00000105908

SMART Domains

Protein: ENSMUSP00000101528
Gene: ENSMUSG00000028860

Domain	Start	End	E-Value	Type
PDB:3BC1\|F	40	92	2e-9	PDB
low complexity region	157	171	N/A	INTRINSIC
low complexity region	223	250	N/A	INTRINSIC
C2	276	359	3.15e-4	SMART
C2	364	467	6.96e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	G	A	17: 48,460,057 (GRCm39)	T213I	probably damaging	Het
Akr1b7	G	A	6: 34,394,300 (GRCm39)		probably null	Het
Aldh6a1	T	C	12: 84,488,556 (GRCm39)	Q110R	probably benign	Het
Alg11	A	T	8: 22,552,044 (GRCm39)	T63S	probably benign	Het
Ankrd13b	A	G	11: 77,367,020 (GRCm39)	Y271H	probably damaging	Het
Ano8	T	A	8: 71,933,477 (GRCm39)	D605V	unknown	Het
Best2	C	T	8: 85,736,295 (GRCm39)		probably null	Het
Brca1	A	G	11: 101,415,807 (GRCm39)	S776P	probably damaging	Het
Capn7	T	C	14: 31,092,663 (GRCm39)	Y737H	probably damaging	Het
Cblc	A	T	7: 19,522,899 (GRCm39)	S333T	probably benign	Het
Ccm2	T	A	11: 6,543,091 (GRCm39)	M257K	probably benign	Het
Cd320	T	A	17: 34,066,530 (GRCm39)	C103*	probably null	Het
Cd53	A	G	3: 106,676,235 (GRCm39)	F44S	probably benign	Het
Col9a2	G	A	4: 120,911,489 (GRCm39)	R610H	not run	Het
Cubn	T	C	2: 13,431,778 (GRCm39)	I1272V	probably benign	Het
Cyp2j7	C	T	4: 96,090,225 (GRCm39)		probably null	Het
Dmrt2	A	T	19: 25,655,962 (GRCm39)	R520S	probably benign	Het
Dnai3	A	T	3: 145,798,835 (GRCm39)		probably null	Het
Drg2	A	G	11: 60,345,506 (GRCm39)	M1V	probably null	Het
Ect2	A	G	3: 27,152,568 (GRCm39)	S908P	probably damaging	Het
Eipr1	A	G	12: 28,916,954 (GRCm39)	T341A	probably benign	Het
Ell3	A	C	2: 121,270,891 (GRCm39)	I214R	probably benign	Het
Emsy	A	T	7: 98,264,693 (GRCm39)	L568Q	probably damaging	Het
Foxd4	T	C	19: 24,877,826 (GRCm39)	T125A	probably damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Gcsam	C	A	16: 45,440,240 (GRCm39)	H94Q	probably damaging	Het
Ginm1	T	A	10: 7,649,844 (GRCm39)	I150F	probably damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hk2	G	A	6: 82,720,326 (GRCm39)	A205V	probably damaging	Het
Il3ra	A	T	14: 14,349,345 (GRCm38)	H147L	probably benign	Het
Masp2	A	G	4: 148,690,178 (GRCm39)	E229G	probably benign	Het
Mccc2	A	G	13: 100,108,285 (GRCm39)		probably null	Het
Mia3	A	G	1: 183,108,508 (GRCm39)	V359A		Het
Mob1a	A	T	6: 83,309,492 (GRCm39)	T80S	probably benign	Het
Msantd2	G	A	9: 37,434,590 (GRCm39)	G478S	probably damaging	Het
Mtf1	A	G	4: 124,718,974 (GRCm39)	E329G	probably null	Het
Myh9	T	A	15: 77,648,065 (GRCm39)	K1804*	probably null	Het
Ndst3	A	G	3: 123,465,313 (GRCm39)	W220R	probably damaging	Het
Nln	A	G	13: 104,173,478 (GRCm39)	L576P	probably damaging	Het
Nlrc4	A	G	17: 74,753,483 (GRCm39)	M300T	probably benign	Het
Obscn	G	T	11: 59,020,403 (GRCm39)	D880E	possibly damaging	Het
Oprd1	T	C	4: 131,844,763 (GRCm39)	T82A	probably damaging	Het
Or2n1d	T	A	17: 38,646,183 (GRCm39)	I45N	probably damaging	Het
Or4f60	A	C	2: 111,902,445 (GRCm39)	V161G	probably benign	Het
Orc3	A	G	4: 34,595,136 (GRCm39)	C278R	probably damaging	Het
Pde4d	T	A	13: 109,769,322 (GRCm39)		probably null	Het
Pms1	T	C	1: 53,236,231 (GRCm39)	E683G	probably benign	Het
Prdm2	A	T	4: 142,905,869 (GRCm39)	Y73N	probably damaging	Het
Prkaa2	T	C	4: 104,932,740 (GRCm39)	Q36R	probably benign	Het
Psg22	A	G	7: 18,456,891 (GRCm39)	E258G	probably damaging	Het
Ptprf	T	C	4: 118,069,369 (GRCm39)	D1566G	probably damaging	Het
Rfwd3	T	A	8: 111,999,701 (GRCm39)	Y759F	probably benign	Het
Ripor2	A	G	13: 24,880,533 (GRCm39)	D411G	probably damaging	Het
Ryr2	A	C	13: 11,571,634 (GRCm39)		probably null	Het
Sdr42e1	T	C	8: 118,389,490 (GRCm39)	T384A	probably benign	Het
Sec1	A	T	7: 45,334,149 (GRCm39)		probably null	Het
Sec16a	A	T	2: 26,311,409 (GRCm39)	F616I		Het
Sipa1l2	T	C	8: 126,208,845 (GRCm39)	D521G	possibly damaging	Het
Smc1b	T	A	15: 84,981,743 (GRCm39)	Q759L	probably benign	Het
Snph	A	T	2: 151,442,263 (GRCm39)	S57R	probably damaging	Het
Sqor	A	T	2: 122,629,450 (GRCm39)	T103S	probably benign	Het
Srbd1	A	G	17: 86,443,749 (GRCm39)	V159A	probably benign	Het
Srsf2	A	T	11: 116,743,727 (GRCm39)	V10E	probably damaging	Het
Swap70	T	A	7: 109,863,316 (GRCm39)		probably null	Het
Synm	A	C	7: 67,382,954 (GRCm39)	*675G	probably null	Het
Tek	A	G	4: 94,699,582 (GRCm39)	E320G	probably benign	Het
Tenm3	T	C	8: 48,689,218 (GRCm39)	D2123G	probably damaging	Het
Tmod4	A	G	3: 95,033,174 (GRCm39)	K56R	possibly damaging	Het
Top3b	G	A	16: 16,695,714 (GRCm39)		probably benign	Het
Tssc4	G	T	7: 142,624,425 (GRCm39)	E244D	possibly damaging	Het
Twnk	G	A	19: 44,999,003 (GRCm39)		probably null	Het
Ube4a	A	C	9: 44,868,011 (GRCm39)	I45S	probably benign	Het
Unc79	A	T	12: 103,055,017 (GRCm39)	M954L	possibly damaging	Het
Vcpip1	A	T	1: 9,816,540 (GRCm39)	D614E	probably benign	Het
Vmn1r45	T	A	6: 89,910,035 (GRCm39)	I312L	probably benign	Het
Vmn1r77	A	G	7: 11,775,611 (GRCm39)	Y129C	probably damaging	Het
Zer1	A	G	2: 29,992,834 (GRCm39)	L600P	probably damaging	Het
Zfp266	T	C	9: 20,412,232 (GRCm39)	T114A	probably benign	Het
Zrsr2-ps1	T	C	11: 22,924,662 (GRCm39)		probably null	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
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
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'- ATGAACTCTAGCGTGCGTGG -3'
(R):5'- CGCCTTTAAGGGACCTCTTTG -3'

Sequencing Primer
(F):5'- CGTGGGTATCACCTAGAATTAGC -3'
(R):5'- ACCCTCTGCCAAAGTGTG -3'

Posted On

2019-10-07