Incidental Mutation 'R8445:Map4k5'
ID 654462
Institutional Source Beutler Lab
Gene Symbol Map4k5
Ensembl Gene ENSMUSG00000034761
Gene Name mitogen-activated protein kinase kinase kinase kinase 5
Synonyms KHS, GCKR, 4432415E19Rik, MAPKKKK5
MMRRC Submission 067886-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8445 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 69850531-69939937 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69897741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 138 (H138L)
Ref Sequence ENSEMBL: ENSMUSP00000047812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049239] [ENSMUST00000110567] [ENSMUST00000110570] [ENSMUST00000171211]
AlphaFold Q8BPM2
Predicted Effect probably damaging
Transcript: ENSMUST00000049239
AA Change: H138L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047812
Gene: ENSMUSG00000034761
AA Change: H138L

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 damaging
Transcript: ENSMUST00000110567
AA Change: H138L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106196
Gene: ENSMUSG00000034761
AA Change: H138L

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 damaging
Transcript: ENSMUST00000110570
AA Change: H138L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106199
Gene: ENSMUSG00000034761
AA Change: H138L

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 probably damaging
Transcript: ENSMUST00000171211
AA Change: H71L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126006
Gene: ENSMUSG00000034761
AA Change: H71L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 T G 9: 70,674,203 (GRCm39) S522A probably benign Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Alg12 C T 15: 88,698,689 (GRCm39) R212Q probably benign Het
C330018D20Rik G A 18: 57,090,962 (GRCm39) P67L probably damaging Het
Col3a1 C T 1: 45,380,340 (GRCm39) R955* probably null Het
Cyp2j12 T A 4: 96,021,259 (GRCm39) I116F possibly damaging Het
Cyp4a10 T A 4: 115,382,791 (GRCm39) W331R probably damaging Het
Dmbt1 T A 7: 130,692,110 (GRCm39) Y959N unknown Het
Dytn T A 1: 63,686,673 (GRCm39) K332N probably benign Het
E130308A19Rik T A 4: 59,720,526 (GRCm39) V686D probably damaging Het
Epha8 T C 4: 136,659,600 (GRCm39) Y792C probably benign Het
Fam53c T C 18: 34,901,368 (GRCm39) V95A probably benign Het
Fbxl4 C A 4: 22,385,983 (GRCm39) Q197K probably benign Het
Fmod G A 1: 133,968,736 (GRCm39) V259I probably benign Het
Insrr T C 3: 87,720,891 (GRCm39) S1050P probably damaging Het
Itga4 A G 2: 79,112,125 (GRCm39) M347V probably benign Het
Kdm5d A G Y: 916,874 (GRCm39) E423G probably damaging Het
Klra7 A T 6: 130,204,078 (GRCm39) I147N possibly damaging Het
Lbx1 T A 19: 45,222,651 (GRCm39) K124I probably damaging Het
Mc3r A G 2: 172,091,237 (GRCm39) H153R probably damaging Het
Myh15 C A 16: 48,940,381 (GRCm39) T777N probably damaging Het
Nfatc4 A C 14: 56,063,875 (GRCm39) I121L possibly damaging Het
Nipa1 A T 7: 55,629,466 (GRCm39) S216T probably benign Het
Nlrp4e A T 7: 23,039,965 (GRCm39) I763L probably benign Het
Nop2 A G 6: 125,111,567 (GRCm39) D100G probably benign Het
Or2a52 A G 6: 43,144,231 (GRCm39) M80V probably benign Het
Or8b12i T A 9: 20,082,394 (GRCm39) I158L probably benign Het
Prelid3a A G 18: 67,606,848 (GRCm39) E80G probably damaging Het
Prl4a1 T C 13: 28,205,445 (GRCm39) S137P possibly damaging Het
Rbpms2 C T 9: 65,558,303 (GRCm39) A113V possibly damaging Het
Rph3a T C 5: 121,111,433 (GRCm39) E49G probably damaging Het
Shisa7 A T 7: 4,839,352 (GRCm39) M124K probably benign Het
Shprh C T 10: 11,057,313 (GRCm39) P1078S possibly damaging Het
Slc30a7 C T 3: 115,800,995 (GRCm39) probably benign Het
Smarca4 CGAGGAGGAGGAGGAGG CGAGGAGGAGGAGG 9: 21,612,239 (GRCm39) probably benign Het
Smg1 A C 7: 117,736,200 (GRCm39) N3563K possibly damaging Het
Spata31d1c G T 13: 65,180,991 (GRCm39) S30I probably damaging Het
St6galnac6 A G 2: 32,498,532 (GRCm39) probably benign Het
Tcp11l1 C A 2: 104,512,278 (GRCm39) E451D probably benign Het
Tfpt G A 7: 3,623,928 (GRCm39) P160S probably damaging Het
Thbs4 C A 13: 92,927,349 (GRCm39) A47S probably benign Het
Trpm2 T C 10: 77,746,086 (GRCm39) D1482G probably damaging Het
Tspyl4 C T 10: 34,173,742 (GRCm39) A78V probably benign Het
Vmn2r26 A G 6: 124,002,995 (GRCm39) N135S probably damaging Het
Vmn2r87 A T 10: 130,313,335 (GRCm39) V477E probably damaging Het
Wdr89 T C 12: 75,679,636 (GRCm39) D206G probably damaging Het
Zfp623 C A 15: 75,819,402 (GRCm39) Y119* probably null Het
Zfp879 A G 11: 50,724,213 (GRCm39) M281T probably damaging Het
Zfp952 T G 17: 33,222,552 (GRCm39) F344V possibly damaging Het
Zgrf1 T C 3: 127,379,854 (GRCm39) probably null Het
Other mutations in Map4k5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Map4k5 APN 12 69,892,506 (GRCm39) missense probably damaging 1.00
IGL01013:Map4k5 APN 12 69,874,300 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GGGCTATGAATATGACTTTCTTCAC -3'
(R):5'- ACGTTAAAGTCCCGTCAAGCTG -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- GTTAAAGTCCCGTCAAGCTGATAGAC -3'
Posted On 2020-10-20