Incidental Mutation 'R7184:Map4k5'
ID 559193
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 045236-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7184 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 69850531-69939937 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69921095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 41 (H41L)
Ref Sequence ENSEMBL: ENSMUSP00000047812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049239] [ENSMUST00000110567] [ENSMUST00000110570] [ENSMUST00000171211]
AlphaFold Q8BPM2
Predicted Effect probably benign
Transcript: ENSMUST00000049239
AA Change: H41L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000047812
Gene: ENSMUSG00000034761
AA Change: H41L

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
AA Change: H41L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106196
Gene: ENSMUSG00000034761
AA Change: H41L

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
AA Change: H41L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106199
Gene: ENSMUSG00000034761
AA Change: H41L

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 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
Meta Mutation Damage Score 0.0858 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,094,219 (GRCm39) S500P possibly damaging Het
Aldh9a1 T A 1: 167,184,965 (GRCm39) N292K probably benign Het
Art2b A T 7: 101,229,658 (GRCm39) S80R probably benign Het
Atp6v1b2 G T 8: 69,555,219 (GRCm39) A194S possibly damaging Het
Bsnd T C 4: 106,349,109 (GRCm39) M44V probably damaging Het
Cadps2 A T 6: 23,583,428 (GRCm39) V383E probably benign Het
Cd93 T C 2: 148,284,459 (GRCm39) T296A possibly damaging Het
Cdk15 G T 1: 59,304,814 (GRCm39) E138D probably benign Het
Cdon A G 9: 35,375,191 (GRCm39) I406V probably benign Het
Cfhr4 A G 1: 139,660,822 (GRCm39) V622A possibly damaging Het
Cyp3a41a A G 5: 145,642,663 (GRCm39) V232A probably benign Het
Dbndd1 T A 8: 124,235,860 (GRCm39) D130V probably damaging Het
Dnah14 C T 1: 181,532,094 (GRCm39) R2294* probably null Het
Eddm3b A G 14: 51,354,387 (GRCm39) Y125C probably damaging Het
Eif1ad14 G A 12: 87,886,492 (GRCm39) R46W possibly damaging Het
Enah A T 1: 181,749,957 (GRCm39) V294E probably damaging Het
Farp2 A G 1: 93,531,137 (GRCm39) E545G probably damaging Het
Farsb T C 1: 78,458,994 (GRCm39) E22G possibly damaging Het
Fcsk G A 8: 111,613,788 (GRCm39) P758S probably damaging Het
Fezf1 A G 6: 23,247,835 (GRCm39) V80A probably benign Het
Fpr2 T C 17: 18,113,533 (GRCm39) Y39H unknown Het
Fsd1l C A 4: 53,694,054 (GRCm39) R344S probably damaging Het
Fxyd1 G T 7: 30,751,401 (GRCm39) R90S unknown Het
Galnt4 T A 10: 98,944,466 (GRCm39) Y64N probably damaging Het
Gatb C T 3: 85,544,258 (GRCm39) Q409* probably null Het
Glipr2 A C 4: 43,968,667 (GRCm39) D73A possibly damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr88 C T 3: 116,045,643 (GRCm39) V223I possibly damaging Het
Gtf2h3 A G 5: 124,722,067 (GRCm39) N55S probably benign Het
Htr4 T A 18: 62,570,498 (GRCm39) C184* probably null Het
Ighv6-3 T A 12: 114,355,475 (GRCm39) R71S probably benign Het
Itpr2 G C 6: 146,212,585 (GRCm39) I1510M possibly damaging Het
Keap1 T C 9: 21,145,134 (GRCm39) Q292R probably benign Het
Mab21l4 T C 1: 93,082,237 (GRCm39) N294S probably benign Het
Malt1 A C 18: 65,580,764 (GRCm39) E219D probably benign Het
Manba T C 3: 135,228,915 (GRCm39) V279A possibly damaging Het
Mcm2 T G 6: 88,868,776 (GRCm39) Y327S probably damaging Het
Nectin3 A G 16: 46,215,484 (GRCm39) I503T possibly damaging Het
Nqo1 T C 8: 108,119,279 (GRCm39) I99M probably damaging Het
Nrxn2 A G 19: 6,540,582 (GRCm39) H845R probably damaging Het
Otogl C T 10: 107,599,061 (GRCm39) C2254Y probably damaging Het
Pmm1 T C 15: 81,840,415 (GRCm39) N110S probably damaging Het
Poc1b G T 10: 98,970,199 (GRCm39) C68F probably benign Het
Polr1b A G 2: 128,965,842 (GRCm39) Y828C possibly damaging Het
Prl3d1 A G 13: 27,282,619 (GRCm39) H119R probably damaging Het
Pum3 A G 19: 27,403,412 (GRCm39) S30P probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rusc1 T C 3: 88,999,194 (GRCm39) E196G possibly damaging Het
Sf3a3 A G 4: 124,608,772 (GRCm39) K29E probably benign Het
Slc13a1 A T 6: 24,092,311 (GRCm39) I475K probably damaging Het
Slc26a5 G T 5: 22,042,244 (GRCm39) Y237* probably null Het
Slc7a14 C T 3: 31,281,212 (GRCm39) G366D probably damaging Het
Tbc1d5 A G 17: 51,107,110 (GRCm39) V482A probably benign Het
Tdrd5 G T 1: 156,087,505 (GRCm39) Q883K probably benign Het
Tet2 T C 3: 133,179,391 (GRCm39) Y1258C probably damaging Het
Upf2 A G 2: 6,028,131 (GRCm39) D739G unknown Het
Vmn1r122 A T 7: 20,867,820 (GRCm39) F78L probably benign Het
Vmn1r75 A T 7: 11,614,915 (GRCm39) K216* probably null Het
Vmn2r11 A T 5: 109,201,281 (GRCm39) Y408N probably damaging Het
Wscd1 T A 11: 71,679,543 (GRCm39) V472D probably damaging Het
Zdbf2 G T 1: 63,345,664 (GRCm39) V1348F possibly damaging Het
Zfp442 G T 2: 150,250,056 (GRCm39) H615Q possibly damaging Het
Zfp457 C A 13: 67,442,065 (GRCm39) C170F possibly damaging Het
Zscan10 A G 17: 23,826,003 (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
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'- CACACCAGGTAGGGTTTAATCC -3'
(R):5'- CTTAAAGAGGTGGGACTAAAGTAATTT -3'

Sequencing Primer
(F):5'- TACTACACACGTACACACTCATAC -3'
(R):5'- GCATGGTTGATAGGCAAT -3'
Posted On 2019-06-26