Incidental Mutation 'IGL01013:Map4k5'
ID 53908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map4k5
Ensembl Gene ENSMUSG00000034761
Gene Name mitogen-activated protein kinase kinase kinase kinase 5
Synonyms KHS, GCKR, 4432415E19Rik, MAPKKKK5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01013
Quality Score
Status
Chromosome 12
Chromosomal Location 69850531-69939937 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 69874300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049239] [ENSMUST00000110567] [ENSMUST00000110570] [ENSMUST00000171211]
AlphaFold Q8BPM2
Predicted Effect probably benign
Transcript: ENSMUST00000049239
SMART Domains Protein: ENSMUSP00000047812
Gene: ENSMUSG00000034761

DomainStartEndE-ValueType
S_TKc 20 277 4.07e-88 SMART
low complexity region 389 396 N/A INTRINSIC
low complexity region 471 482 N/A INTRINSIC
CNH 512 827 4.57e-142 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110567
SMART Domains Protein: ENSMUSP00000106196
Gene: ENSMUSG00000034761

DomainStartEndE-ValueType
S_TKc 20 277 4.07e-88 SMART
low complexity region 370 377 N/A INTRINSIC
low complexity region 452 463 N/A INTRINSIC
CNH 493 808 3.98e-142 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110570
SMART Domains Protein: ENSMUSP00000106199
Gene: ENSMUSG00000034761

DomainStartEndE-ValueType
S_TKc 20 277 4.07e-88 SMART
low complexity region 389 396 N/A INTRINSIC
low complexity region 471 482 N/A INTRINSIC
CNH 512 827 3.98e-142 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153712
Predicted Effect probably benign
Transcript: ENSMUST00000171211
SMART Domains Protein: ENSMUSP00000126006
Gene: ENSMUSG00000034761

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 208 2e-32 PFAM
Pfam:Pkinase 1 210 6.2e-52 PFAM
low complexity region 322 329 N/A INTRINSIC
low complexity region 404 415 N/A INTRINSIC
CNH 445 760 4.57e-142 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188608
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. This kinase was shown to activate Jun kinase in mammalian cells, which suggested a role in stress response. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are viable and phenotypically normal but show impaired canonical and noncanonical Wnt signaling in progenitor B lymphocytes. Mice homozygous for a gene trap exhibit hypoalgesia, increased serum IgG1 and an increased percentage of peripheral blood CD4+ cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 77,034,053 (GRCm39) E499D possibly damaging Het
Abca1 A T 4: 53,038,185 (GRCm39) L2059* probably null Het
Ankar T A 1: 72,690,148 (GRCm39) I1228F possibly damaging Het
Appl1 A T 14: 26,671,433 (GRCm39) Y340N possibly damaging Het
Atp8b4 C A 2: 126,165,007 (GRCm39) R1103L probably benign Het
B4galt6 A G 18: 20,822,070 (GRCm39) V308A probably damaging Het
Ccdc162 G A 10: 41,457,335 (GRCm39) P1534L probably benign Het
Ccdc78 A G 17: 26,008,028 (GRCm39) E313G possibly damaging Het
Cep57l1 G A 10: 41,616,865 (GRCm39) R141* probably null Het
Cpsf1 G A 15: 76,483,497 (GRCm39) Q883* probably null Het
Crot A G 5: 9,043,575 (GRCm39) Y16H probably benign Het
Cyld T G 8: 89,468,990 (GRCm39) L587R probably damaging Het
Fam114a1 G A 5: 65,188,738 (GRCm39) probably null Het
Fam89b G T 19: 5,779,397 (GRCm39) D53E probably benign Het
Fig4 T C 10: 41,143,782 (GRCm39) M226V probably benign Het
Gm10722 A T 9: 3,002,230 (GRCm39) Y184F probably damaging Het
Hp C A 8: 110,305,653 (GRCm39) probably benign Het
Igsf9b G T 9: 27,245,600 (GRCm39) R1189L probably damaging Het
Ilf3 A G 9: 21,310,987 (GRCm39) N620D possibly damaging Het
Jakmip3 A C 7: 138,619,302 (GRCm39) E228A possibly damaging Het
Kpna3 A T 14: 61,607,966 (GRCm39) I413K probably damaging Het
Letm1 A T 5: 33,919,934 (GRCm39) C202S possibly damaging Het
Lmod2 C A 6: 24,604,134 (GRCm39) Q370K probably damaging Het
Mcidas T A 13: 113,134,119 (GRCm39) probably benign Het
Mme A G 3: 63,235,281 (GRCm39) probably null Het
Mrc1 T C 2: 14,333,236 (GRCm39) W1306R probably damaging Het
Mthfd1l C A 10: 3,980,716 (GRCm39) Q473K probably damaging Het
Muc6 A T 7: 141,234,333 (GRCm39) C719* probably null Het
Nsun7 T C 5: 66,440,944 (GRCm39) I355T possibly damaging Het
Padi6 A G 4: 140,456,314 (GRCm39) L560P probably damaging Het
Parl C A 16: 20,101,540 (GRCm39) A285S possibly damaging Het
Pclo A T 5: 14,843,848 (GRCm39) M4795L unknown Het
Polr2f A G 15: 79,030,329 (GRCm39) Y56C probably damaging Het
Rasgrp2 A T 19: 6,454,413 (GRCm39) H152L probably damaging Het
Rpl10l T C 12: 66,331,001 (GRCm39) D44G probably benign Het
Slc25a16 A G 10: 62,780,212 (GRCm39) probably null Het
Snrnp200 G A 2: 127,074,392 (GRCm39) E1411K probably damaging Het
Tanc2 G A 11: 105,515,891 (GRCm39) R3Q probably damaging Het
Tbc1d32 G T 10: 56,078,055 (GRCm39) probably null Het
Tcf7l2 T C 19: 55,908,059 (GRCm39) probably benign Het
Tnrc6c G T 11: 117,612,855 (GRCm39) V498L probably benign Het
Tymp G A 15: 89,260,513 (GRCm39) H102Y probably damaging Het
Wdr76 T C 2: 121,365,978 (GRCm39) S492P probably benign Het
Zc3h12d T C 10: 7,715,720 (GRCm39) I41T probably damaging Het
Other mutations in Map4k5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Map4k5 APN 12 69,892,506 (GRCm39) missense probably damaging 1.00
IGL01309:Map4k5 APN 12 69,888,737 (GRCm39) missense probably benign 0.00
IGL02314:Map4k5 APN 12 69,865,213 (GRCm39) missense probably benign 0.05
IGL02612:Map4k5 APN 12 69,896,358 (GRCm39) missense possibly damaging 0.63
IGL02620:Map4k5 APN 12 69,939,476 (GRCm39) missense probably benign 0.05
IGL02749:Map4k5 APN 12 69,862,580 (GRCm39) missense probably benign 0.25
R0662:Map4k5 UTSW 12 69,859,927 (GRCm39) missense probably damaging 1.00
R0731:Map4k5 UTSW 12 69,921,038 (GRCm39) intron probably benign
R0828:Map4k5 UTSW 12 69,852,100 (GRCm39) missense probably damaging 0.98
R1026:Map4k5 UTSW 12 69,921,062 (GRCm39) missense possibly damaging 0.95
R1178:Map4k5 UTSW 12 69,863,152 (GRCm39) missense probably damaging 0.99
R1464:Map4k5 UTSW 12 69,852,124 (GRCm39) missense possibly damaging 0.89
R1464:Map4k5 UTSW 12 69,852,124 (GRCm39) missense possibly damaging 0.89
R1615:Map4k5 UTSW 12 69,891,187 (GRCm39) missense probably damaging 1.00
R1632:Map4k5 UTSW 12 69,874,821 (GRCm39) missense probably benign
R1652:Map4k5 UTSW 12 69,877,201 (GRCm39) critical splice donor site probably null
R1677:Map4k5 UTSW 12 69,852,082 (GRCm39) missense probably benign 0.01
R1835:Map4k5 UTSW 12 69,871,436 (GRCm39) missense probably damaging 1.00
R1895:Map4k5 UTSW 12 69,892,529 (GRCm39) missense probably damaging 1.00
R1946:Map4k5 UTSW 12 69,892,529 (GRCm39) missense probably damaging 1.00
R1968:Map4k5 UTSW 12 69,865,266 (GRCm39) missense probably damaging 0.99
R1971:Map4k5 UTSW 12 69,873,102 (GRCm39) missense possibly damaging 0.81
R1987:Map4k5 UTSW 12 69,889,686 (GRCm39) missense probably damaging 1.00
R2070:Map4k5 UTSW 12 69,863,111 (GRCm39) missense probably damaging 0.99
R2471:Map4k5 UTSW 12 69,903,620 (GRCm39) missense probably benign 0.30
R3417:Map4k5 UTSW 12 69,856,038 (GRCm39) missense probably damaging 1.00
R4133:Map4k5 UTSW 12 69,892,497 (GRCm39) missense probably damaging 1.00
R4331:Map4k5 UTSW 12 69,874,148 (GRCm39) missense probably benign 0.00
R4388:Map4k5 UTSW 12 69,892,583 (GRCm39) missense probably damaging 1.00
R4685:Map4k5 UTSW 12 69,858,140 (GRCm39) missense probably benign
R4760:Map4k5 UTSW 12 69,871,372 (GRCm39) missense possibly damaging 0.49
R4822:Map4k5 UTSW 12 69,888,758 (GRCm39) nonsense probably null
R4863:Map4k5 UTSW 12 69,865,212 (GRCm39) missense probably benign 0.04
R4971:Map4k5 UTSW 12 69,899,493 (GRCm39) missense possibly damaging 0.60
R5038:Map4k5 UTSW 12 69,871,388 (GRCm39) missense probably damaging 1.00
R5055:Map4k5 UTSW 12 69,878,332 (GRCm39) missense probably benign
R5248:Map4k5 UTSW 12 69,888,755 (GRCm39) missense probably benign 0.36
R5428:Map4k5 UTSW 12 69,884,787 (GRCm39) missense possibly damaging 0.94
R5697:Map4k5 UTSW 12 69,877,210 (GRCm39) missense probably benign
R5757:Map4k5 UTSW 12 69,871,429 (GRCm39) missense probably damaging 1.00
R5955:Map4k5 UTSW 12 69,891,164 (GRCm39) missense probably damaging 1.00
R6258:Map4k5 UTSW 12 69,878,336 (GRCm39) missense probably benign 0.06
R6259:Map4k5 UTSW 12 69,899,514 (GRCm39) missense probably damaging 0.97
R6260:Map4k5 UTSW 12 69,878,336 (GRCm39) missense probably benign 0.06
R6796:Map4k5 UTSW 12 69,864,799 (GRCm39) missense probably benign 0.01
R6979:Map4k5 UTSW 12 69,869,622 (GRCm39) missense probably damaging 1.00
R7164:Map4k5 UTSW 12 69,877,210 (GRCm39) missense probably benign
R7184:Map4k5 UTSW 12 69,921,095 (GRCm39) missense probably benign 0.00
R7598:Map4k5 UTSW 12 69,871,412 (GRCm39) missense possibly damaging 0.75
R8395:Map4k5 UTSW 12 69,877,203 (GRCm39) missense probably null
R8445:Map4k5 UTSW 12 69,897,741 (GRCm39) missense probably damaging 1.00
R8757:Map4k5 UTSW 12 69,897,598 (GRCm39) critical splice donor site probably benign
R8827:Map4k5 UTSW 12 69,903,635 (GRCm39) missense possibly damaging 0.88
R8896:Map4k5 UTSW 12 69,870,275 (GRCm39) missense possibly damaging 0.94
R8898:Map4k5 UTSW 12 69,859,931 (GRCm39) missense possibly damaging 0.88
R9224:Map4k5 UTSW 12 69,939,467 (GRCm39) missense possibly damaging 0.61
R9563:Map4k5 UTSW 12 69,863,167 (GRCm39) missense probably benign 0.40
RF002:Map4k5 UTSW 12 69,903,630 (GRCm39) missense probably damaging 0.96
X0062:Map4k5 UTSW 12 69,871,381 (GRCm39) missense probably benign 0.01
Posted On 2013-06-28