Incidental Mutation 'R3735:Map3k6'
ID 270049
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 040722-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.324) question?
Stock # R3735 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 132968129-132980240 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132973683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 458 (V458A)
Ref Sequence ENSEMBL: ENSMUSP00000030677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030677]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030677
AA Change: V458A

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: V458A

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
Meta Mutation Damage Score 0.0764 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 100% (71/71)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C G 4: 103,123,603 (GRCm39) E90Q probably damaging Het
Acadl G A 1: 66,892,448 (GRCm39) A125V probably benign Het
Acot12 T A 13: 91,932,465 (GRCm39) I487N probably benign Het
Acox3 A G 5: 35,768,497 (GRCm39) K686R probably benign Het
Adam17 T C 12: 21,375,413 (GRCm39) D802G probably benign Het
Aoc3 A T 11: 101,223,045 (GRCm39) D427V probably damaging Het
Bivm C T 1: 44,165,594 (GRCm39) H15Y probably benign Het
C8a T C 4: 104,674,812 (GRCm39) E509G probably benign Het
Ccdc158 A C 5: 92,780,283 (GRCm39) L930R possibly damaging Het
Cdca7 T A 2: 72,314,209 (GRCm39) probably null Het
Cep170b A T 12: 112,707,438 (GRCm39) I395F probably damaging Het
Champ1 T C 8: 13,928,735 (GRCm39) S298P probably damaging Het
Cimip2c A T 5: 30,639,442 (GRCm39) Y123F probably benign Het
Cyp2j8 T A 4: 96,332,836 (GRCm39) R503S probably damaging Het
Dcaf10 C T 4: 45,348,117 (GRCm39) T191I probably benign Het
Dido1 A G 2: 180,325,829 (GRCm39) probably benign Het
Dnah7b C T 1: 46,339,035 (GRCm39) T3361I probably benign Het
Dync1h1 G A 12: 110,598,109 (GRCm39) V1767I probably benign Het
Eml5 G A 12: 98,822,248 (GRCm39) T721I possibly damaging Het
F8 G A X: 74,254,981 (GRCm39) P2138S probably damaging Het
Fam169b G T 7: 68,000,049 (GRCm39) R198S probably damaging Het
Gm7694 A G 1: 170,130,330 (GRCm39) S23P probably damaging Het
Grk3 T A 5: 113,101,697 (GRCm39) T248S probably benign Het
Helq T G 5: 100,938,054 (GRCm39) D464A possibly damaging Het
Ido2 C T 8: 25,025,209 (GRCm39) V273M probably damaging Het
Il12rb1 T C 8: 71,269,862 (GRCm39) L518P probably damaging Het
Irag2 G A 6: 145,106,596 (GRCm39) probably benign Het
Kansl1l A G 1: 66,840,409 (GRCm39) V297A possibly damaging Het
Kcnj10 A G 1: 172,197,533 (GRCm39) Y349C possibly damaging Het
Krt18 A G 15: 101,936,936 (GRCm39) T75A probably benign Het
Lrp4 A T 2: 91,328,716 (GRCm39) I1539F probably damaging Het
Med12l T A 3: 58,998,916 (GRCm39) H614Q probably damaging Het
Med13 A C 11: 86,170,484 (GRCm39) M1850R probably benign Het
Mfsd13a A G 19: 46,356,767 (GRCm39) Y256C probably damaging Het
Mogs C A 6: 83,093,757 (GRCm39) T242K possibly damaging Het
Myo9b T C 8: 71,801,241 (GRCm39) V1133A probably benign Het
Myom2 A T 8: 15,119,676 (GRCm39) H144L probably benign Het
Ncapg A T 5: 45,853,469 (GRCm39) Q906L probably benign Het
Nkx1-1 C T 5: 33,591,074 (GRCm39) V83I unknown Het
Npy4r T A 14: 33,869,226 (GRCm39) T21S probably benign Het
Nup88 A G 11: 70,847,018 (GRCm39) S331P probably damaging Het
Olr1 T A 6: 129,476,838 (GRCm39) probably benign Het
Or4k44 T A 2: 111,368,241 (GRCm39) H131L probably damaging Het
Osmr A T 15: 6,851,561 (GRCm39) Y656N probably damaging Het
Otogl A T 10: 107,735,390 (GRCm39) Y131* probably null Het
Pgr G A 9: 8,901,534 (GRCm39) G356S probably damaging Het
Prdm2 T C 4: 142,860,929 (GRCm39) E787G probably damaging Het
Prpf18 A G 2: 4,648,484 (GRCm39) I114T probably benign Het
R3hdm2 T A 10: 127,300,879 (GRCm39) I280N probably benign Het
Rims4 T C 2: 163,705,905 (GRCm39) D243G possibly damaging Het
Rmnd5a T C 6: 71,373,846 (GRCm39) D316G possibly damaging Het
Rpap2 T C 5: 107,803,017 (GRCm39) probably benign Het
Sdr16c5 G A 4: 4,005,614 (GRCm39) T240I probably benign Het
Shroom3 T C 5: 93,112,303 (GRCm39) V1888A possibly damaging Het
Slc36a4 T A 9: 15,649,569 (GRCm39) Y466* probably null Het
Slco3a1 A G 7: 74,154,245 (GRCm39) I80T probably damaging Het
Sptlc2 G A 12: 87,388,339 (GRCm39) A381V probably benign Het
Stam A T 2: 14,133,823 (GRCm39) Q190L probably damaging Het
Suclg2 T A 6: 95,474,677 (GRCm39) I363F probably damaging Het
Tacstd2 A G 6: 67,511,843 (GRCm39) V283A probably damaging Het
Tln1 G T 4: 43,549,370 (GRCm39) A616E probably damaging Het
Trdmt1 A T 2: 13,524,684 (GRCm39) F257Y possibly damaging Het
Trip12 TATACATACATACATACATACATACATACATAC TATACATACATACATACATACATACATACATACATAC 1: 84,792,511 (GRCm39) probably null Het
Trps1 A G 15: 50,709,456 (GRCm39) I298T possibly damaging Het
Tti2 T C 8: 31,645,925 (GRCm39) L413P probably damaging Het
Utrn A G 10: 12,354,228 (GRCm39) V343A probably damaging Het
Vwf G T 6: 125,565,576 (GRCm39) W288L probably damaging Het
Zfp629 T A 7: 127,211,950 (GRCm39) probably benign Het
Zfp873 G A 10: 81,897,015 (GRCm39) S582N probably benign Het
Zfp979 A G 4: 147,697,939 (GRCm39) Y257H possibly damaging Het
Zfpm1 G A 8: 123,050,475 (GRCm39) C117Y possibly damaging 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
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
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'- GATACGGGCATCACATACCACG -3'

Sequencing Primer
(F):5'- GGGACCCACACTTGAGCCTTAC -3'
(R):5'- TCACATACCACGAACAGAGGGG -3'
Posted On 2015-03-18