Incidental Mutation 'R1987:Map4k5'
ID 222705
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 039999-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1987 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 69850531-69939937 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 69889686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 198 (R198S)
Ref Sequence ENSEMBL: ENSMUSP00000126006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049239] [ENSMUST00000110567] [ENSMUST00000110570] [ENSMUST00000171211]
AlphaFold Q8BPM2
Predicted Effect probably damaging
Transcript: ENSMUST00000049239
AA Change: R265S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000047812
Gene: ENSMUSG00000034761
AA Change: R265S

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: R265S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106196
Gene: ENSMUSG00000034761
AA Change: R265S

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: R265S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106199
Gene: ENSMUSG00000034761
AA Change: R265S

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: ENSMUST00000124715
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153712
Predicted Effect probably damaging
Transcript: ENSMUST00000171211
AA Change: R198S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126006
Gene: ENSMUSG00000034761
AA Change: R198S

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: ENSMUST00000180861
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188608
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.6%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A T 19: 8,992,615 (GRCm39) D4633V probably damaging Het
Akap6 T C 12: 53,187,578 (GRCm39) F1664S possibly damaging Het
Arhgef28 T C 13: 98,103,604 (GRCm39) M803V probably benign Het
Bltp1 T A 3: 37,008,134 (GRCm39) probably null Het
Bltp2 A T 11: 78,158,993 (GRCm39) Q433L probably damaging Het
Ccdc73 T A 2: 104,761,390 (GRCm39) L130* probably null Het
Ccdc73 A G 2: 104,829,504 (GRCm39) E1059G probably damaging Het
Ccer2 A C 7: 28,456,708 (GRCm39) S151R possibly damaging Het
Cep128 T A 12: 91,197,603 (GRCm39) H406L probably benign Het
Cep135 A G 5: 76,745,275 (GRCm39) D229G probably benign Het
Cpvl T A 6: 53,931,596 (GRCm39) D103V probably benign Het
Crppa T A 12: 36,571,995 (GRCm39) L301Q probably damaging Het
Cstdc6 C A 16: 36,142,194 (GRCm39) G61C probably damaging Het
Disp3 G A 4: 148,343,210 (GRCm39) A567V probably damaging Het
Dnah5 T C 15: 28,343,737 (GRCm39) I2379T probably damaging Het
Dnah6 T C 6: 73,072,027 (GRCm39) Y2433C probably damaging Het
Dock3 A G 9: 106,985,620 (GRCm39) I85T probably benign Het
Dock9 A C 14: 121,829,242 (GRCm39) S1380A probably benign Het
Erbin T C 13: 104,022,711 (GRCm39) T43A probably benign Het
Fastkd3 T C 13: 68,733,360 (GRCm39) V502A possibly damaging Het
Fn1 T C 1: 71,690,784 (GRCm39) H59R probably damaging Het
Fsd2 A G 7: 81,209,407 (GRCm39) V145A possibly damaging Het
Fzr1 A G 10: 81,206,153 (GRCm39) V178A probably damaging Het
Gnpnat1 T C 14: 45,618,455 (GRCm39) R116G probably damaging Het
Grm7 T A 6: 110,891,472 (GRCm39) V235E probably damaging Het
Hdac4 A C 1: 91,862,367 (GRCm39) N1002K probably damaging Het
Hey1 C T 3: 8,729,957 (GRCm39) A167T probably benign Het
Hrnr A G 3: 93,239,911 (GRCm39) N3383S unknown Het
Ints2 A T 11: 86,108,626 (GRCm39) V907D probably benign Het
Jchain T A 5: 88,669,326 (GRCm39) Q109L probably damaging Het
Klhdc7a A T 4: 139,693,335 (GRCm39) Y537* probably null Het
Klra1 C T 6: 130,354,742 (GRCm39) S92N probably benign Het
Krt31 C T 11: 99,940,406 (GRCm39) G150S probably benign Het
Lrrc71 G A 3: 87,649,950 (GRCm39) T326M probably benign Het
Lrrn4 T C 2: 132,712,363 (GRCm39) T487A probably benign Het
Men1 G A 19: 6,388,867 (GRCm39) C354Y probably damaging Het
Ms4a18 A T 19: 10,991,019 (GRCm39) V25E probably damaging Het
Mutyh T A 4: 116,676,565 (GRCm39) S512R possibly damaging Het
Myh10 G T 11: 68,705,322 (GRCm39) A1947S possibly damaging Het
Nfasc T C 1: 132,538,624 (GRCm39) D427G probably damaging Het
Nlrp9c A G 7: 26,077,481 (GRCm39) M767T probably benign Het
Nrbp1 T C 5: 31,402,735 (GRCm39) L185P probably damaging Het
Pcdh9 G A 14: 94,125,741 (GRCm39) P143L probably damaging Het
Pcsk6 A T 7: 65,577,035 (GRCm39) M158L possibly damaging Het
Pkd1 G T 17: 24,795,566 (GRCm39) probably null Het
Plk4 A T 3: 40,760,252 (GRCm39) S383C possibly damaging Het
Plxna2 T C 1: 194,326,297 (GRCm39) L77P probably damaging Het
Pnpla6 A T 8: 3,592,370 (GRCm39) T1209S probably benign Het
Prdm2 A G 4: 142,859,079 (GRCm39) S1404P possibly damaging Het
Preb T C 5: 31,116,157 (GRCm39) D150G probably damaging Het
Prrt2 A G 7: 126,617,902 (GRCm39) V59A probably benign Het
Prss40 T C 1: 34,597,095 (GRCm39) N151S possibly damaging Het
Ptprt G T 2: 161,400,818 (GRCm39) A1053D probably damaging Het
Ptprt A G 2: 161,608,241 (GRCm39) V685A possibly damaging Het
Rfx4 C T 10: 84,731,952 (GRCm39) S549F possibly damaging Het
Rnaset2b T A 17: 7,263,876 (GRCm39) V87E probably benign Het
Rnf213 G A 11: 119,331,933 (GRCm39) E2381K probably damaging Het
Sectm1a A T 11: 120,960,506 (GRCm39) I103N probably damaging Het
Selp T A 1: 163,970,327 (GRCm39) L597Q probably damaging Het
Sema6a T C 18: 47,433,209 (GRCm39) D74G probably damaging Het
Serpinb9b T C 13: 33,213,542 (GRCm39) V33A probably benign Het
Setd1b A T 5: 123,285,769 (GRCm39) T272S unknown Het
Sgf29 G C 7: 126,248,649 (GRCm39) probably null Het
Slc4a10 C A 2: 62,098,548 (GRCm39) Q561K probably damaging Het
Slc4a5 T C 6: 83,250,214 (GRCm39) I649T possibly damaging Het
Slc5a7 A G 17: 54,600,863 (GRCm39) Y91H probably damaging Het
Styxl1 T C 5: 135,785,976 (GRCm39) Y23C probably damaging Het
Tbc1d24 A G 17: 24,425,846 (GRCm39) V490A possibly damaging Het
Tbpl2 A T 2: 23,984,744 (GRCm39) F133L probably benign Het
Tnfrsf22 T C 7: 143,192,126 (GRCm39) probably benign Het
Top2b A G 14: 16,398,916 (GRCm38) E512G probably damaging Het
Trgc3 C A 13: 19,445,164 (GRCm39) F37L probably damaging Het
Ttc17 T A 2: 94,194,690 (GRCm39) H561L probably benign Het
Ttll4 G T 1: 74,724,527 (GRCm39) V566L possibly damaging Het
Ubqlnl A G 7: 103,797,692 (GRCm39) Y602H probably benign Het
Vmn1r231 T A 17: 21,110,212 (GRCm39) E234D probably damaging Het
Wbp11 A G 6: 136,797,583 (GRCm39) S279P probably damaging Het
Wdr6 A G 9: 108,453,733 (GRCm39) L50P probably damaging Het
Zfp715 A C 7: 42,948,073 (GRCm39) I629S possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- TGAAGAGTATTCTCAAAATGTAGCCTC -3'
(R):5'- GTTTTGGCCTAAGTAAGAGGAAC -3'

Sequencing Primer
(F):5'- GCAAAATCTGGTGTCCTGAC -3'
(R):5'- CCTAAGTAAGAGGAACTAAGAGGCC -3'
Posted On 2014-08-25