Mutagenetix > Incidental Mutation

Incidental Mutation 'R5092:Map3k6'

387807

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

042681-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R5092 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133240818-133252929 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133251743 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1164 (E1164G)

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: E1164G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: E1164G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127681

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154911

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,987,667 (GRCm38)		probably benign	Het
4932438A13Rik	A	T	3: 37,000,085 (GRCm38)	M3118L	probably benign	Het
Abca13	T	A	11: 9,258,535 (GRCm38)	L236Q	probably damaging	Het
Acp2	A	T	2: 91,208,046 (GRCm38)	T255S	probably benign	Het
Acsf3	A	C	8: 122,817,392 (GRCm38)	R536S	probably benign	Het
Adgrb1	T	G	15: 74,529,815 (GRCm38)	V220G	probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm38)	G601S	probably damaging	Het
Atp5b	A	G	10: 128,083,985 (GRCm38)	Q74R	probably benign	Het
Brf1	G	A	12: 112,979,732 (GRCm38)	T166M	probably damaging	Het
Capn9	A	G	8: 124,597,525 (GRCm38)	K188R	probably damaging	Het
Casp8	A	T	1: 58,844,676 (GRCm38)	N381Y	possibly damaging	Het
Cbwd1	A	T	19: 24,921,019 (GRCm38)		probably null	Het
Ccdc88b	A	G	19: 6,848,232 (GRCm38)	S1218P	probably damaging	Het
Cdc42bpg	C	T	19: 6,313,220 (GRCm38)	P403S	probably benign	Het
Cdkal1	T	A	13: 29,846,239 (GRCm38)	Y91F	probably damaging	Het
Cdyl2	T	C	8: 116,623,940 (GRCm38)	N151D	possibly damaging	Het
Cnot1	T	A	8: 95,752,768 (GRCm38)	R875S	possibly damaging	Het
Cpd	A	G	11: 76,811,704 (GRCm38)	S613P	possibly damaging	Het
Cyhr1	A	T	15: 76,646,312 (GRCm38)	F269L	probably benign	Het
Cyp2e1	G	T	7: 140,774,735 (GRCm38)	R492L	probably damaging	Het
D5Ertd579e	G	A	5: 36,602,703 (GRCm38)	T1371M	probably benign	Het
Dcaf8	A	G	1: 172,186,909 (GRCm38)	T394A	probably benign	Het
Dgka	T	C	10: 128,735,833 (GRCm38)	E117G	probably damaging	Het
Dock4	G	A	12: 40,844,441 (GRCm38)	V1867I	probably benign	Het
E2f2	G	T	4: 136,186,937 (GRCm38)	A333S	probably benign	Het
Eif3l	T	C	15: 79,084,154 (GRCm38)	S208P	probably benign	Het
Elovl3	A	T	19: 46,134,522 (GRCm38)	H179L	probably damaging	Het
Eml5	T	C	12: 98,792,616 (GRCm38)	D1766G	probably damaging	Het
Eno4	A	G	19: 58,945,591 (GRCm38)	T75A	probably benign	Het
Fam135a	C	T	1: 24,028,807 (GRCm38)	D94N	probably benign	Het
Fasn	G	T	11: 120,815,036 (GRCm38)	Q1136K	probably benign	Het
Fcer1a	T	G	1: 173,225,455 (GRCm38)	N58T	probably damaging	Het
Frmd4b	T	A	6: 97,295,980 (GRCm38)	D763V	probably damaging	Het
Gm43518	A	G	5: 123,938,234 (GRCm38)	T115A	probably damaging	Het
Gria4	C	T	9: 4,472,176 (GRCm38)	E438K	probably benign	Het
Grin2d	T	C	7: 45,854,268 (GRCm38)	E681G	probably damaging	Het
Gtf3c5	G	T	2: 28,582,873 (GRCm38)	N35K	possibly damaging	Het
Hydin	A	G	8: 110,582,668 (GRCm38)	T4031A	probably benign	Het
Igfn1	G	T	1: 135,964,826 (GRCm38)	N2185K	probably benign	Het
Il17rb	T	C	14: 30,002,376 (GRCm38)	T174A	probably benign	Het
Kdm3b	T	A	18: 34,813,462 (GRCm38)	C835S	probably benign	Het
Lgi2	A	T	5: 52,538,087 (GRCm38)	I510N	probably damaging	Het
Mpv17l	T	A	16: 13,940,673 (GRCm38)	M1K	probably null	Het
Myoc	T	A	1: 162,639,634 (GRCm38)	L124Q	probably damaging	Het
Nbeal2	C	A	9: 110,626,728 (GRCm38)		probably null	Het
Nek10	A	G	14: 14,820,851 (GRCm38)	K13E	possibly damaging	Het
Nt5dc2	A	G	14: 31,139,032 (GRCm38)	H491R	possibly damaging	Het
Olfr1053	T	C	2: 86,314,362 (GRCm38)	Q308R	probably benign	Het
Olfr1314	A	C	2: 112,092,107 (GRCm38)	M198R	possibly damaging	Het
Olfr65	T	A	7: 103,907,199 (GRCm38)	Y250*	probably null	Het
Pclo	T	A	5: 14,677,308 (GRCm38)		probably benign	Het
Pgm1	A	T	5: 64,107,749 (GRCm38)	N371I	possibly damaging	Het
Phf20l1	T	A	15: 66,636,913 (GRCm38)	S873T	possibly damaging	Het
Plch1	T	C	3: 63,698,710 (GRCm38)	T1249A	probably benign	Het
Plekhn1	A	T	4: 156,224,765 (GRCm38)	I228N	possibly damaging	Het
Ppp1r12a	A	T	10: 108,267,402 (GRCm38)		probably null	Het
Ptchd3	T	C	11: 121,831,146 (GRCm38)	Y282H	probably damaging	Het
Ptprk	T	A	10: 28,592,773 (GRCm38)	N1396K	probably damaging	Het
Rap1gap2	T	C	11: 74,438,295 (GRCm38)	E81G	probably damaging	Het
Rpf2	T	C	10: 40,246,975 (GRCm38)	M1V	probably null	Het
Rpgrip1l	G	A	8: 91,221,384 (GRCm38)	Q1224*	probably null	Het
Rreb1	A	G	13: 37,928,278 (GRCm38)	D286G	probably benign	Het
Rufy4	T	C	1: 74,147,663 (GRCm38)	C537R	probably damaging	Het
Senp5	A	T	16: 31,989,142 (GRCm38)	N431K	probably benign	Het
Serpina1f	A	C	12: 103,693,550 (GRCm38)	S158A	probably damaging	Het
Sertad3	T	A	7: 27,476,720 (GRCm38)	I193N	probably damaging	Het
Slc22a8	T	A	19: 8,594,164 (GRCm38)	N86K	probably damaging	Het
Slc6a2	T	C	8: 92,994,719 (GRCm38)	V492A	possibly damaging	Het
Slf2	T	A	19: 44,952,084 (GRCm38)	D773E	probably benign	Het
Slmap	A	C	14: 26,463,589 (GRCm38)	L272R	probably damaging	Het
Smyd5	T	C	6: 85,445,203 (GRCm38)		probably benign	Het
Snx21	G	T	2: 164,786,746 (GRCm38)	R103L	probably damaging	Het
Sphk2	T	A	7: 45,712,353 (GRCm38)		probably null	Het
Stab1	T	C	14: 31,145,855 (GRCm38)	K1653E	probably benign	Het
Syde1	A	G	10: 78,589,418 (GRCm38)	V253A	probably benign	Het
Sympk	G	T	7: 19,042,659 (GRCm38)	R492L	probably benign	Het
Taar7f	T	C	10: 24,049,553 (GRCm38)	I15T	probably benign	Het
Tas2r137	A	G	6: 40,491,266 (GRCm38)	D10G	probably benign	Het
Tbcc	A	G	17: 46,891,674 (GRCm38)	S329G	probably benign	Het
Teddm3	G	A	16: 21,153,150 (GRCm38)	T223M	probably benign	Het
Tex14	G	T	11: 87,514,842 (GRCm38)	C860F	probably benign	Het
Thada	A	T	17: 84,444,468 (GRCm38)	L360Q	probably damaging	Het
Thop1	C	A	10: 81,080,578 (GRCm38)	H473Q	probably damaging	Het
Tln2	T	C	9: 67,256,028 (GRCm38)	D1075G	probably benign	Het
Tmem130	G	A	5: 144,743,718 (GRCm38)	T292I	probably benign	Het
Tmem198b	T	C	10: 128,801,436 (GRCm38)	N278S	probably benign	Het
Ttc21a	A	T	9: 119,942,665 (GRCm38)	T177S	probably benign	Het
Ubr2	A	T	17: 46,969,247 (GRCm38)	C659S	probably damaging	Het
Vmn2r4	T	C	3: 64,390,952 (GRCm38)	K585R	probably benign	Het
Vmn2r86	A	G	10: 130,446,587 (GRCm38)	I720T	probably damaging	Het
Wdr35	G	T	12: 8,987,327 (GRCm38)	W311L	probably damaging	Het
Zfp39	A	T	11: 58,891,202 (GRCm38)	F245I	possibly damaging	Het
Zmym5	G	A	14: 56,796,779 (GRCm38)	T325I	probably benign	Het

Other mutations in Map3k6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Map3k6	APN	4	133,243,044 (GRCm38)	splice site	probably benign
IGL01060:Map3k6	APN	4	133,247,302 (GRCm38)	splice site	probably null
IGL01116:Map3k6	APN	4	133,247,128 (GRCm38)	missense	probably damaging	0.98
IGL01341:Map3k6	APN	4	133,248,060 (GRCm38)	missense	possibly damaging	0.67
IGL02383:Map3k6	APN	4	133,246,621 (GRCm38)	splice site	probably null
IGL03090:Map3k6	APN	4	133,243,366 (GRCm38)	missense	probably benign	0.05
IGL03096:Map3k6	APN	4	133,251,345 (GRCm38)	nonsense	probably null
IGL03149:Map3k6	APN	4	133,249,688 (GRCm38)	missense	probably damaging	1.00
R0110:Map3k6	UTSW	4	133,243,794 (GRCm38)	missense	probably damaging	1.00
R0142:Map3k6	UTSW	4	133,250,946 (GRCm38)	missense	probably benign
R0189:Map3k6	UTSW	4	133,246,941 (GRCm38)	missense	possibly damaging	0.46
R0368:Map3k6	UTSW	4	133,252,659 (GRCm38)	missense	probably benign	0.23
R0417:Map3k6	UTSW	4	133,248,082 (GRCm38)	nonsense	probably null
R0595:Map3k6	UTSW	4	133,241,263 (GRCm38)	missense	probably damaging	0.98
R0597:Map3k6	UTSW	4	133,245,552 (GRCm38)	missense	possibly damaging	0.46
R0699:Map3k6	UTSW	4	133,248,126 (GRCm38)	missense	probably damaging	1.00
R1099:Map3k6	UTSW	4	133,247,128 (GRCm38)	missense	probably damaging	1.00
R1113:Map3k6	UTSW	4	133,245,815 (GRCm38)	missense	probably damaging	1.00
R1308:Map3k6	UTSW	4	133,245,815 (GRCm38)	missense	probably damaging	1.00
R1607:Map3k6	UTSW	4	133,252,473 (GRCm38)	missense	probably damaging	1.00
R2217:Map3k6	UTSW	4	133,246,672 (GRCm38)	missense	possibly damaging	0.46
R3734:Map3k6	UTSW	4	133,248,396 (GRCm38)	missense	possibly damaging	0.79
R3735:Map3k6	UTSW	4	133,246,372 (GRCm38)	missense	probably benign	0.21
R3743:Map3k6	UTSW	4	133,245,073 (GRCm38)	missense	probably benign	0.26
R4244:Map3k6	UTSW	4	133,251,947 (GRCm38)	missense	possibly damaging	0.65
R4245:Map3k6	UTSW	4	133,251,947 (GRCm38)	missense	possibly damaging	0.65
R4465:Map3k6	UTSW	4	133,246,333 (GRCm38)	missense	possibly damaging	0.66
R4482:Map3k6	UTSW	4	133,243,399 (GRCm38)	missense	probably benign	0.00
R4827:Map3k6	UTSW	4	133,248,849 (GRCm38)	missense	possibly damaging	0.92
R5110:Map3k6	UTSW	4	133,247,548 (GRCm38)	intron	probably benign
R5258:Map3k6	UTSW	4	133,247,642 (GRCm38)	missense	possibly damaging	0.81
R5369:Map3k6	UTSW	4	133,247,681 (GRCm38)	missense	probably damaging	0.99
R5642:Map3k6	UTSW	4	133,245,544 (GRCm38)	missense	probably damaging	0.99
R5648:Map3k6	UTSW	4	133,243,335 (GRCm38)	missense	probably benign	0.25
R6102:Map3k6	UTSW	4	133,247,131 (GRCm38)	critical splice donor site	probably null
R6144:Map3k6	UTSW	4	133,245,675 (GRCm38)	missense	probably damaging	1.00
R6476:Map3k6	UTSW	4	133,250,086 (GRCm38)	missense	probably damaging	0.98
R6511:Map3k6	UTSW	4	133,248,078 (GRCm38)	missense	probably damaging	0.98
R6522:Map3k6	UTSW	4	133,250,024 (GRCm38)	missense	possibly damaging	0.65
R6706:Map3k6	UTSW	4	133,250,939 (GRCm38)	nonsense	probably null
R6874:Map3k6	UTSW	4	133,250,656 (GRCm38)	missense	probably benign	0.02
R7069:Map3k6	UTSW	4	133,251,712 (GRCm38)	missense	probably benign	0.01
R7216:Map3k6	UTSW	4	133,246,900 (GRCm38)	missense	probably damaging	0.99
R7417:Map3k6	UTSW	4	133,248,396 (GRCm38)	missense	probably benign	0.43
R7538:Map3k6	UTSW	4	133,251,927 (GRCm38)	missense	probably benign
R7569:Map3k6	UTSW	4	133,250,077 (GRCm38)	missense	probably benign	0.04
R8003:Map3k6	UTSW	4	133,248,882 (GRCm38)	missense	probably benign	0.05
R8407:Map3k6	UTSW	4	133,247,593 (GRCm38)	missense	possibly damaging	0.95
R8817:Map3k6	UTSW	4	133,246,760 (GRCm38)	missense	probably benign	0.00
R8939:Map3k6	UTSW	4	133,252,643 (GRCm38)	unclassified	probably benign
R9285:Map3k6	UTSW	4	133,245,559 (GRCm38)	missense	probably damaging	1.00
R9308:Map3k6	UTSW	4	133,243,411 (GRCm38)	missense	probably damaging	1.00
R9400:Map3k6	UTSW	4	133,241,156 (GRCm38)	missense	probably damaging	1.00
R9401:Map3k6	UTSW	4	133,241,156 (GRCm38)	missense	probably damaging	1.00
R9573:Map3k6	UTSW	4	133,252,463 (GRCm38)	missense	probably damaging	0.99
R9677:Map3k6	UTSW	4	133,241,116 (GRCm38)	missense	probably benign	0.04
R9682:Map3k6	UTSW	4	133,248,108 (GRCm38)	missense	possibly damaging	0.61
R9745:Map3k6	UTSW	4	133,252,472 (GRCm38)	missense	probably damaging	1.00
R9751:Map3k6	UTSW	4	133,251,857 (GRCm38)	critical splice acceptor site	probably null
Z1088:Map3k6	UTSW	4	133,245,066 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AATTGGTACTTCGCGGCTC -3'
(R):5'- AAGCTGGGGCATACTTCCTG -3'

Sequencing Primer
(F):5'- ACCGTCTGGGGTCCTAAAC -3'
(R):5'- TCTGCATGCACCCGATG -3'

Posted On

2016-06-06