Incidental Mutation 'R6161:Map3k5'
ID 489878
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 044308-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6161 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 19810218-20018499 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19876321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 160 (V160A)
Ref Sequence ENSEMBL: ENSMUSP00000112864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095806] [ENSMUST00000120259] [ENSMUST00000129437] [ENSMUST00000152533]
AlphaFold O35099
Predicted Effect probably damaging
Transcript: ENSMUST00000095806
AA Change: V160A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093485
Gene: ENSMUSG00000071369
AA Change: V160A

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 damaging
Transcript: ENSMUST00000120259
AA Change: V160A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112864
Gene: ENSMUSG00000071369
AA Change: V160A

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 probably benign
Transcript: ENSMUST00000129437
SMART Domains Protein: ENSMUSP00000114518
Gene: ENSMUSG00000071369

DomainStartEndE-ValueType
Pfam:Pkinase 34 144 7.6e-20 PFAM
Pfam:Pkinase_Tyr 34 144 5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152533
SMART Domains Protein: ENSMUSP00000122553
Gene: ENSMUSG00000071369

DomainStartEndE-ValueType
Pfam:DUF4071 10 80 6.3e-23 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 100% (54/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,139,934 (GRCm39) K1533M probably damaging Het
Aldh1l2 C T 10: 83,356,202 (GRCm39) V63I probably benign Het
Atr A G 9: 95,747,372 (GRCm39) H218R probably benign Het
Atxn7l1 T A 12: 33,408,662 (GRCm39) S275T possibly damaging Het
Cacna1c T C 6: 119,034,263 (GRCm39) K88R probably damaging Het
Ccl7 T C 11: 81,937,412 (GRCm39) Y49H probably damaging Het
Cers5 A G 15: 99,636,544 (GRCm39) probably null Het
Chuk T C 19: 44,071,076 (GRCm39) E543G probably damaging Het
Dip2c T C 13: 9,697,043 (GRCm39) V1318A probably damaging Het
Ercc5 A G 1: 44,206,512 (GRCm39) H475R probably benign Het
Fat3 A G 9: 16,288,818 (GRCm39) L235P probably damaging Het
Fbn1 A T 2: 125,211,721 (GRCm39) C892* probably null Het
Fbxw8 T C 5: 118,230,740 (GRCm39) T354A possibly damaging Het
Fsip2 A C 2: 82,817,601 (GRCm39) T4445P possibly damaging Het
Gpld1 A T 13: 25,155,397 (GRCm39) Q344L probably benign Het
Hao1 A T 2: 134,347,545 (GRCm39) D253E probably benign Het
Hmcn2 A G 2: 31,246,266 (GRCm39) D745G probably benign Het
Kcnt1 A G 2: 25,793,397 (GRCm39) T658A probably benign Het
Klhl35 A G 7: 99,122,544 (GRCm39) probably benign Het
Lnx2 C T 5: 146,978,836 (GRCm39) probably null Het
Masp2 A T 4: 148,698,469 (GRCm39) I517F possibly damaging Het
Mc4r A T 18: 66,992,251 (GRCm39) Y287* probably null Het
Mthfr A G 4: 148,126,211 (GRCm39) D94G probably benign Het
Muc16 A G 9: 18,559,114 (GRCm39) I2393T unknown Het
Mybbp1a G T 11: 72,336,838 (GRCm39) V557L probably damaging Het
Mycbp2 A T 14: 103,536,183 (GRCm39) W256R probably damaging Het
Nacad G A 11: 6,550,902 (GRCm39) S763L probably benign Het
Nebl A G 2: 17,735,641 (GRCm39) V11A probably benign Het
Notch1 A T 2: 26,358,743 (GRCm39) C1363S probably damaging Het
Nphp3 A G 9: 103,909,105 (GRCm39) N772D probably benign Het
Nqo2 G A 13: 34,163,634 (GRCm39) V98M probably damaging Het
Pak4 A G 7: 28,264,692 (GRCm39) I70T possibly damaging Het
Pbx2 A G 17: 34,812,574 (GRCm39) K2E probably damaging Het
Pikfyve A G 1: 65,255,202 (GRCm39) T352A probably benign Het
Polr1g G A 7: 19,091,558 (GRCm39) T183I possibly damaging Het
Pop1 T C 15: 34,526,456 (GRCm39) Y684H probably damaging Het
Rpa1 A G 11: 75,205,721 (GRCm39) V212A probably damaging Het
Rpap2 A G 5: 107,768,536 (GRCm39) E458G probably damaging Het
Sin3a T C 9: 57,002,708 (GRCm39) V200A possibly damaging Het
Sla T C 15: 66,654,447 (GRCm39) T280A probably null Het
Slc22a26 A T 19: 7,763,812 (GRCm39) I406K possibly damaging Het
Slc24a1 T C 9: 64,844,545 (GRCm39) N606S unknown Het
Slc39a10 G A 1: 46,866,567 (GRCm39) T443M probably damaging Het
Smg1 A T 7: 117,762,553 (GRCm39) probably benign Het
Sra1 G A 18: 36,803,336 (GRCm39) A9V probably damaging Het
Stard4 A G 18: 33,342,109 (GRCm39) V47A probably damaging Het
Stat4 A T 1: 52,113,836 (GRCm39) D182V possibly damaging Het
Syt1 A G 10: 108,467,668 (GRCm39) F210L probably damaging Het
Ube2q1 T A 3: 89,688,667 (GRCm39) probably null Het
Vmn1r159 C T 7: 22,542,612 (GRCm39) C140Y possibly damaging Het
Wnt8a T C 18: 34,678,599 (GRCm39) F138L possibly damaging Het
Zfp623 T A 15: 75,820,470 (GRCm39) D475E probably benign Het
Zfp646 C T 7: 127,477,897 (GRCm39) R25W probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CAGGCTTTCTGTGATTTGCAATAC -3'
(R):5'- TGGATGACAGCAATGTGCC -3'

Sequencing Primer
(F):5'- TTCTGTGATTTGCAATACATGTTTG -3'
(R):5'- AGCAATGTGCCCCTCACTG -3'
Posted On 2017-10-10