Incidental Mutation 'P0033:Map3k5'
ID 7717
Institutional Source Beutler Lab
Gene Symbol Map3k5
Ensembl Gene ENSMUSG00000071369
Gene Name mitogen-activated protein kinase kinase kinase 5
Synonyms ASK1, 7420452D20Rik, ASK, Mekk5
MMRRC Submission 038284-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # P0033 (G1)
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 19810218-20018499 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 20007959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095806] [ENSMUST00000120259]
AlphaFold O35099
Predicted Effect probably benign
Transcript: ENSMUST00000095806
SMART Domains Protein: ENSMUSP00000093485
Gene: ENSMUSG00000071369

DomainStartEndE-ValueType
low complexity region 26 43 N/A INTRINSIC
low complexity region 44 58 N/A INTRINSIC
low complexity region 80 99 N/A INTRINSIC
Pfam:DUF4071 172 552 2.1e-162 PFAM
S_TKc 687 945 8.08e-92 SMART
low complexity region 1195 1207 N/A INTRINSIC
low complexity region 1225 1238 N/A INTRINSIC
coiled coil region 1251 1292 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120259
SMART Domains Protein: ENSMUSP00000112864
Gene: ENSMUSG00000071369

DomainStartEndE-ValueType
low complexity region 26 43 N/A INTRINSIC
low complexity region 44 58 N/A INTRINSIC
low complexity region 80 99 N/A INTRINSIC
Pfam:DUF4071 172 544 1.7e-156 PFAM
S_TKc 679 937 8.08e-92 SMART
low complexity region 1187 1199 N/A INTRINSIC
low complexity region 1217 1230 N/A INTRINSIC
coiled coil region 1243 1284 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156369
Coding Region Coverage
  • 1x: 81.1%
  • 3x: 72.9%
  • 10x: 47.1%
  • 20x: 23.7%
Validation Efficiency 86% (108/125)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these signaling cascades are highly conserved, and homologs exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are overtly normal, however apoptosis abnormalities are evident in cultured cells and after induced heart damage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Depdc1a T C 3: 159,221,778 (GRCm39) S241P probably damaging Het
Dusp19 T A 2: 80,447,729 (GRCm39) M1K probably null Het
Egfem1 G C 3: 29,744,340 (GRCm39) Q526H probably damaging Het
Gm10856 C A 15: 79,730,023 (GRCm39) noncoding transcript Het
Gm5901 A G 7: 105,026,712 (GRCm39) Y160C probably damaging Het
Hmg20a A G 9: 56,397,108 (GRCm39) S303G probably benign Het
Lmbrd1 A G 1: 24,724,646 (GRCm39) T77A possibly damaging Het
Ncapg2 G A 12: 116,402,255 (GRCm39) V696I probably benign Het
Orm3 A T 4: 63,274,539 (GRCm39) T35S probably damaging Het
Pdgfra A G 5: 75,353,222 (GRCm39) E1004G probably damaging Het
Pigg T A 5: 108,489,944 (GRCm39) F850I probably damaging Het
Ppip5k2 A G 1: 97,645,253 (GRCm39) V1067A probably damaging Het
Ptprd T A 4: 76,047,091 (GRCm39) R392* probably null Het
Rad54b T A 4: 11,609,285 (GRCm39) probably benign Het
Rapgef4 T C 2: 71,967,675 (GRCm39) probably benign Het
Rasef T C 4: 73,668,089 (GRCm39) N134S probably benign Het
Sfswap C T 5: 129,616,819 (GRCm39) P421L possibly damaging Het
Sorcs1 T A 19: 50,141,345 (GRCm39) I1129F probably damaging Het
Spats2l G A 1: 57,924,997 (GRCm39) E132K probably damaging Het
Tet3 A G 6: 83,345,494 (GRCm39) S1648P probably damaging Het
Ttc16 T A 2: 32,652,586 (GRCm39) T691S probably benign Het
Usp38 C T 8: 81,708,525 (GRCm39) D1018N probably benign Het
Zcchc14 A C 8: 122,336,898 (GRCm39) probably benign Het
Other mutations in Map3k5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Map3k5 APN 10 19,810,790 (GRCm39) missense possibly damaging 0.73
IGL00978:Map3k5 APN 10 20,017,313 (GRCm39) missense probably damaging 1.00
IGL01470:Map3k5 APN 10 19,993,933 (GRCm39) missense possibly damaging 0.89
IGL01992:Map3k5 APN 10 19,904,879 (GRCm39) nonsense probably null
IGL02479:Map3k5 APN 10 19,932,230 (GRCm39) missense probably damaging 1.00
IGL02728:Map3k5 APN 10 19,994,038 (GRCm39) missense possibly damaging 0.71
IGL02812:Map3k5 APN 10 19,900,782 (GRCm39) missense probably damaging 1.00
IGL03104:Map3k5 APN 10 20,007,801 (GRCm39) missense probably benign
PIT4434001:Map3k5 UTSW 10 19,902,003 (GRCm39) missense probably damaging 0.98
R0284:Map3k5 UTSW 10 19,876,359 (GRCm39) missense probably damaging 0.99
R1103:Map3k5 UTSW 10 19,899,422 (GRCm39) missense probably benign 0.00
R1172:Map3k5 UTSW 10 19,932,394 (GRCm39) intron probably benign
R1250:Map3k5 UTSW 10 19,986,521 (GRCm39) missense possibly damaging 0.73
R1493:Map3k5 UTSW 10 19,904,859 (GRCm39) missense probably damaging 1.00
R1634:Map3k5 UTSW 10 20,012,657 (GRCm39) missense possibly damaging 0.64
R1693:Map3k5 UTSW 10 19,979,988 (GRCm39) missense probably damaging 1.00
R1713:Map3k5 UTSW 10 19,986,593 (GRCm39) missense possibly damaging 0.79
R1832:Map3k5 UTSW 10 19,975,306 (GRCm39) missense probably damaging 1.00
R1844:Map3k5 UTSW 10 19,979,909 (GRCm39) missense probably benign 0.33
R1869:Map3k5 UTSW 10 20,007,855 (GRCm39) nonsense probably null
R2156:Map3k5 UTSW 10 19,900,683 (GRCm39) missense probably damaging 1.00
R2214:Map3k5 UTSW 10 19,902,035 (GRCm39) critical splice donor site probably null
R2221:Map3k5 UTSW 10 19,943,666 (GRCm39) missense possibly damaging 0.96
R2223:Map3k5 UTSW 10 19,943,666 (GRCm39) missense possibly damaging 0.96
R2249:Map3k5 UTSW 10 20,003,443 (GRCm39) missense probably damaging 0.99
R2418:Map3k5 UTSW 10 19,986,603 (GRCm39) missense probably benign 0.02
R2513:Map3k5 UTSW 10 19,970,201 (GRCm39) missense possibly damaging 0.92
R3014:Map3k5 UTSW 10 19,970,175 (GRCm39) missense probably damaging 1.00
R3770:Map3k5 UTSW 10 19,900,765 (GRCm39) missense probably damaging 0.99
R3814:Map3k5 UTSW 10 19,901,936 (GRCm39) missense probably damaging 0.99
R3814:Map3k5 UTSW 10 20,016,426 (GRCm39) missense probably damaging 0.99
R4706:Map3k5 UTSW 10 19,934,684 (GRCm39) missense probably damaging 1.00
R4749:Map3k5 UTSW 10 20,007,798 (GRCm39) missense probably benign 0.42
R4903:Map3k5 UTSW 10 19,994,235 (GRCm39) missense probably null 1.00
R4958:Map3k5 UTSW 10 19,899,535 (GRCm39) missense possibly damaging 0.79
R5065:Map3k5 UTSW 10 19,958,213 (GRCm39) missense probably damaging 1.00
R5210:Map3k5 UTSW 10 19,900,647 (GRCm39) missense possibly damaging 0.82
R5245:Map3k5 UTSW 10 20,016,437 (GRCm39) missense probably benign 0.00
R5304:Map3k5 UTSW 10 19,983,984 (GRCm39) missense probably benign 0.13
R5428:Map3k5 UTSW 10 19,899,399 (GRCm39) missense possibly damaging 0.93
R5566:Map3k5 UTSW 10 19,986,465 (GRCm39) missense probably damaging 1.00
R5914:Map3k5 UTSW 10 19,980,001 (GRCm39) missense probably benign 0.24
R6155:Map3k5 UTSW 10 19,994,187 (GRCm39) missense probably benign 0.01
R6161:Map3k5 UTSW 10 19,876,321 (GRCm39) missense probably damaging 0.98
R6191:Map3k5 UTSW 10 19,899,415 (GRCm39) missense probably damaging 0.99
R6251:Map3k5 UTSW 10 20,014,006 (GRCm39) splice site probably null
R6800:Map3k5 UTSW 10 20,017,326 (GRCm39) makesense probably null
R7304:Map3k5 UTSW 10 19,975,301 (GRCm39) missense probably damaging 1.00
R7722:Map3k5 UTSW 10 20,007,891 (GRCm39) missense probably benign 0.04
R8058:Map3k5 UTSW 10 20,007,860 (GRCm39) missense probably damaging 0.99
R8207:Map3k5 UTSW 10 19,986,612 (GRCm39) frame shift probably null
R8827:Map3k5 UTSW 10 19,902,003 (GRCm39) missense probably damaging 0.98
R8977:Map3k5 UTSW 10 19,955,000 (GRCm39) missense possibly damaging 0.88
R9490:Map3k5 UTSW 10 20,007,797 (GRCm39) missense probably benign
R9570:Map3k5 UTSW 10 19,876,314 (GRCm39) missense probably benign 0.02
R9784:Map3k5 UTSW 10 19,810,812 (GRCm39) missense probably damaging 1.00
RF024:Map3k5 UTSW 10 19,975,918 (GRCm39) missense probably damaging 1.00
X0017:Map3k5 UTSW 10 19,994,180 (GRCm39) missense probably damaging 0.98
Posted On 2012-10-29