Incidental Mutation 'R6800:Map3k5'
ID 533284
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 044913-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6800 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 19810218-20018499 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 20017326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 1373 (*1373W)
Ref Sequence ENSEMBL: ENSMUSP00000112864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095806] [ENSMUST00000120259]
AlphaFold O35099
Predicted Effect probably null
Transcript: ENSMUST00000095806
AA Change: *1381W
SMART Domains Protein: ENSMUSP00000093485
Gene: ENSMUSG00000071369
AA Change: *1381W

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 null
Transcript: ENSMUST00000120259
AA Change: *1373W
SMART Domains Protein: ENSMUSP00000112864
Gene: ENSMUSG00000071369
AA Change: *1373W

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
Meta Mutation Damage Score 0.8621 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
Validation Efficiency 97% (66/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik G A 13: 60,992,948 (GRCm39) P244S probably damaging Het
9130023H24Rik C A 7: 127,836,742 (GRCm39) probably benign Het
Acoxl A T 2: 127,852,085 (GRCm39) Q129L probably damaging Het
Akna T C 4: 63,316,268 (GRCm39) T32A probably benign Het
Alox15 C T 11: 70,235,645 (GRCm39) probably null Het
Antxrl T C 14: 33,787,864 (GRCm39) S296P probably damaging Het
Arrb2 G T 11: 70,328,142 (GRCm39) G52* probably null Het
Bltp2 T C 11: 78,179,105 (GRCm39) F2091S probably benign Het
Capn2 A T 1: 182,309,045 (GRCm39) I499N probably damaging Het
Cfhr4 T A 1: 139,629,719 (GRCm39) D683V possibly damaging Het
Cspg4b T A 13: 113,504,686 (GRCm39) D396E probably benign Het
Cubn T A 2: 13,326,066 (GRCm39) I2700F probably damaging Het
Cypt4 A T 9: 24,536,965 (GRCm39) N152Y probably benign Het
Dmxl2 T C 9: 54,316,467 (GRCm39) N1640D probably damaging Het
Dnah7b A T 1: 46,379,377 (GRCm39) N3704Y possibly damaging Het
Dnah9 A G 11: 65,963,565 (GRCm39) probably null Het
Elac2 G A 11: 64,890,265 (GRCm39) probably null Het
Erich3 A T 3: 154,433,029 (GRCm39) probably null Het
Espnl T C 1: 91,270,351 (GRCm39) V386A probably damaging Het
Fbxl6 T A 15: 76,422,898 (GRCm39) probably benign Het
Fdps A C 3: 89,008,068 (GRCm39) F17V probably damaging Het
Gigyf2 T C 1: 87,346,898 (GRCm39) I576T possibly damaging Het
Gm20939 A G 17: 95,184,657 (GRCm39) E435G possibly damaging Het
Hivep1 G A 13: 42,310,852 (GRCm39) V1031I probably damaging Het
Hydin T G 8: 111,324,603 (GRCm39) S4655A probably benign Het
Ifrd1 T A 12: 40,273,157 (GRCm39) probably benign Het
Iqgap1 G T 7: 80,378,729 (GRCm39) T1219K possibly damaging Het
Lmtk3 G A 7: 45,443,233 (GRCm39) E639K possibly damaging Het
Mia2 G A 12: 59,235,332 (GRCm39) probably null Het
Micu2 T C 14: 58,156,896 (GRCm39) D313G possibly damaging Het
Mrgpra4 A G 7: 47,631,371 (GRCm39) S77P probably damaging Het
Mrpl51 T C 6: 125,169,367 (GRCm39) V17A probably benign Het
Neurod4 A T 10: 130,106,661 (GRCm39) Y204* probably null Het
Or2n1 A G 17: 38,486,013 (GRCm39) I13V probably benign Het
Or56a42-ps1 A T 7: 104,776,217 (GRCm39) V97E probably benign Het
Or5p67 G A 7: 107,922,460 (GRCm39) T141I probably benign Het
Or6c66b A T 10: 129,377,132 (GRCm39) H242L probably damaging Het
Pate2 T C 9: 35,596,941 (GRCm39) probably benign Het
Pcdhgb8 G A 18: 37,896,580 (GRCm39) R550Q probably benign Het
Phldb3 T C 7: 24,323,577 (GRCm39) L437P possibly damaging Het
Pianp C A 6: 124,978,565 (GRCm39) P257T possibly damaging Het
Rbbp6 T A 7: 122,584,287 (GRCm39) H140Q possibly damaging Het
Rfx2 A G 17: 57,087,804 (GRCm39) I529T probably damaging Het
Rnf113a1 A C X: 36,455,840 (GRCm39) T266P probably benign Het
Rp1l1 T C 14: 64,268,599 (GRCm39) I1395T possibly damaging Het
Rps6ka2 A C 17: 7,519,035 (GRCm39) K186Q probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Rtel1 C A 2: 180,964,256 (GRCm39) T85N probably benign Het
Rtn4rl2 T C 2: 84,710,967 (GRCm39) N99S probably damaging Het
Ryr1 C T 7: 28,723,741 (GRCm39) G4106D possibly damaging Het
Scgb2b24 A G 7: 33,437,894 (GRCm39) V71A probably benign Het
Sgip1 A G 4: 102,778,225 (GRCm39) probably benign Het
Slc12a4 G A 8: 106,676,371 (GRCm39) T515I probably damaging Het
Spag1 C T 15: 36,197,895 (GRCm39) R286* probably null Het
Strbp C T 2: 37,515,228 (GRCm39) R266Q probably damaging Het
Strn G T 17: 78,977,787 (GRCm39) probably benign Het
Thnsl2 C A 6: 71,118,264 (GRCm39) V55L probably benign Het
Tmem178b A T 6: 40,231,858 (GRCm39) Q164L unknown Het
Tmprss6 C T 15: 78,324,457 (GRCm39) R786H probably damaging Het
Ttc21a T A 9: 119,770,268 (GRCm39) L113Q possibly damaging Het
Ttc21b T C 2: 66,038,994 (GRCm39) probably null Het
Vmn2r51 T C 7: 9,832,191 (GRCm39) D465G probably damaging Het
Vmp1 A C 11: 86,556,913 (GRCm39) probably null Het
Wdcp T C 12: 4,901,358 (GRCm39) F405L probably damaging Het
Zfhx3 A T 8: 109,676,149 (GRCm39) T2400S probably benign Het
Zfp27 T C 7: 29,593,860 (GRCm39) T702A probably benign Het
Zfp87 T C 13: 74,520,080 (GRCm39) S333G 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
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 20,016,426 (GRCm39) missense probably damaging 0.99
R3814:Map3k5 UTSW 10 19,901,936 (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
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
Predicted Primers PCR Primer
(F):5'- GCTCGACACGTTTTCACCAG -3'
(R):5'- CAGTCAGGATTATTCTGAAAGCC -3'

Sequencing Primer
(F):5'- TCGACACGTTTTCACCAGAGGAG -3'
(R):5'- TCTGAAAGCCTTTGTGAAGAAGAGTC -3'
Posted On 2018-09-12