Incidental Mutation 'R4465:Map3k6'
ID 330298
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 041580-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.324) question?
Stock # R4465 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 132968129-132980240 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132973644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 445 (Y445C)
Ref Sequence ENSEMBL: ENSMUSP00000030677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030677]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000030677
AA Change: Y445C

PolyPhen 2 Score 0.661 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: Y445C

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134895
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Acsbg2 A G 17: 57,168,580 (GRCm39) Y180H probably damaging Het
Adgrb3 G T 1: 25,133,447 (GRCm39) T1213K probably damaging Het
Atrn A G 2: 130,802,388 (GRCm39) T510A probably benign Het
Clasp1 C A 1: 118,488,808 (GRCm39) T857N probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Col12a1 C A 9: 79,580,192 (GRCm39) V1562F possibly damaging Het
Cyp4f40 T A 17: 32,890,186 (GRCm39) D285E probably benign Het
Dis3 G A 14: 99,321,550 (GRCm39) S599L possibly damaging Het
Dnah11 T C 12: 117,951,186 (GRCm39) T3041A probably benign Het
Erbin T C 13: 103,981,393 (GRCm39) N511D probably benign Het
F11 T A 8: 45,694,511 (GRCm39) I617F probably damaging Het
Gm11541 A T 11: 94,595,048 (GRCm39) C7S unknown Het
Klk12 A T 7: 43,422,807 (GRCm39) R245W probably damaging Het
Lao1 C A 4: 118,822,504 (GRCm39) S141R probably benign Het
Lrrk2 A G 15: 91,632,023 (GRCm39) K1316E probably damaging Het
Mup6 T C 4: 60,004,000 (GRCm39) I31T probably damaging Het
Ndnf T A 6: 65,681,180 (GRCm39) D486E probably benign Het
Or2a54 T C 6: 43,092,852 (GRCm39) Y59H probably damaging Het
Or8h7 A T 2: 86,721,494 (GRCm39) N8K probably benign Het
Or8k37 A T 2: 86,469,478 (GRCm39) N191K probably benign Het
Rab19 T C 6: 39,365,060 (GRCm39) S107P probably damaging Het
Slc22a29 A T 19: 8,140,088 (GRCm39) L439* probably null Het
Slc5a1 A G 5: 33,303,860 (GRCm39) E225G possibly damaging Het
Slx4 A G 16: 3,806,919 (GRCm39) V508A possibly damaging Het
Snx25 A G 8: 46,521,266 (GRCm39) S373P possibly damaging Het
Stag2 A G X: 41,322,749 (GRCm39) S400G probably benign Homo
Tas2r107 A G 6: 131,636,972 (GRCm39) Y26H probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Zdhhc22 G A 12: 87,034,997 (GRCm39) L152F probably benign Het
Zfpm2 T G 15: 40,959,557 (GRCm39) M80R probably benign Het
Other mutations in Map3k6
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ATATCCATGCTCCTGTGCGTG -3'
(R):5'- GGATACGGGCATCACATACC -3'

Sequencing Primer
(F):5'- TGAGGGCCACAGTGGGAC -3'
(R):5'- GGCACTGTCTATCTATCGTAGTGAC -3'
Posted On 2015-07-21