Incidental Mutation 'IGL01470:Map3k5'
ID 88251
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map3k5
Ensembl Gene ENSMUSG00000071369
Gene Name mitogen-activated protein kinase kinase kinase 5
Synonyms ASK1, 7420452D20Rik, ASK, Mekk5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01470
Quality Score
Status
Chromosome 10
Chromosomal Location 19810218-20018499 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19993933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 973 (E973G)
Ref Sequence ENSEMBL: ENSMUSP00000112864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095806] [ENSMUST00000120259]
AlphaFold O35099
Predicted Effect possibly damaging
Transcript: ENSMUST00000095806
AA Change: E981G

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093485
Gene: ENSMUSG00000071369
AA Change: E981G

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 possibly damaging
Transcript: ENSMUST00000120259
AA Change: E973G

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112864
Gene: ENSMUSG00000071369
AA Change: E973G

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
Coding Region Coverage
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,382,414 (GRCm39) T1184A possibly damaging Het
A2ml1 A G 6: 128,557,375 (GRCm39) I106T probably damaging Het
Asic4 C T 1: 75,427,510 (GRCm39) A12V probably damaging Het
Cacna1d A T 14: 29,821,099 (GRCm39) V1139D probably damaging Het
Edc4 T C 8: 106,616,613 (GRCm39) probably benign Het
Eif4h A T 5: 134,654,393 (GRCm39) probably null Het
Exog C A 9: 119,291,592 (GRCm39) Q290K probably damaging Het
Fam83c A T 2: 155,676,728 (GRCm39) I14K possibly damaging Het
Fes A T 7: 80,033,021 (GRCm39) Y268N probably benign Het
Fhod1 A G 8: 106,056,281 (GRCm39) L1144P probably damaging Het
Frem3 C T 8: 81,340,944 (GRCm39) T1079I probably damaging Het
Gbp10 A G 5: 105,368,980 (GRCm39) probably benign Het
Herc1 T C 9: 66,404,918 (GRCm39) V4496A possibly damaging Het
Lamb1 A G 12: 31,350,261 (GRCm39) R729G possibly damaging Het
Lifr T A 15: 7,205,147 (GRCm39) C461* probably null Het
Lypd6 T C 2: 50,078,795 (GRCm39) V97A probably benign Het
Mep1b A T 18: 21,230,524 (GRCm39) N692I probably benign Het
Mrpl15 A G 1: 4,846,754 (GRCm39) V274A probably damaging Het
Naaa A G 5: 92,411,507 (GRCm39) I264T probably damaging Het
Nlrp4c T C 7: 6,103,783 (GRCm39) C906R possibly damaging Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Or4x11 T C 2: 89,868,162 (GRCm39) W300R possibly damaging Het
Or5b95 T C 19: 12,658,035 (GRCm39) S188P possibly damaging Het
Or8b38 A T 9: 37,973,300 (GRCm39) H228L possibly damaging Het
Or8k3 T C 2: 86,058,628 (GRCm39) N229S probably benign Het
Phc2 C T 4: 128,616,903 (GRCm39) T392I probably benign Het
Ptprg G A 14: 12,213,702 (GRCm38) W248* probably null Het
Pzp T A 6: 128,498,087 (GRCm39) E243D probably benign Het
Rbm33 T A 5: 28,592,846 (GRCm39) L542Q probably damaging Het
Recql4 G A 15: 76,593,144 (GRCm39) T229I probably benign Het
Ssbp3 T C 4: 106,894,855 (GRCm39) probably benign Het
Tfap2d A T 1: 19,218,620 (GRCm39) Q373L probably damaging Het
Timmdc1 A G 16: 38,338,902 (GRCm39) probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Vps13c T C 9: 67,820,209 (GRCm39) probably benign Het
Zfp551 A G 7: 12,152,468 (GRCm39) probably null 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
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
P0033:Map3k5 UTSW 10 20,007,959 (GRCm39) splice site 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 2013-11-18