Incidental Mutation 'R6985:Map4k3'
ID 542939
Institutional Source Beutler Lab
Gene Symbol Map4k3
Ensembl Gene ENSMUSG00000024242
Gene Name mitogen-activated protein kinase kinase kinase kinase 3
Synonyms 9530052P13Rik
MMRRC Submission 045092-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6985 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 80887941-81035914 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80944161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 329 (S329P)
Ref Sequence ENSEMBL: ENSMUSP00000108008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025089] [ENSMUST00000112389]
AlphaFold Q99JP0
Predicted Effect probably damaging
Transcript: ENSMUST00000025089
AA Change: S329P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025089
Gene: ENSMUSG00000024242
AA Change: S329P

DomainStartEndE-ValueType
S_TKc 16 273 9.71e-95 SMART
low complexity region 299 304 N/A INTRINSIC
low complexity region 413 421 N/A INTRINSIC
low complexity region 428 440 N/A INTRINSIC
low complexity region 467 491 N/A INTRINSIC
CNH 561 874 2e-115 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112389
AA Change: S329P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108008
Gene: ENSMUSG00000024242
AA Change: S329P

DomainStartEndE-ValueType
S_TKc 16 273 9.71e-95 SMART
low complexity region 299 304 N/A INTRINSIC
low complexity region 413 421 N/A INTRINSIC
low complexity region 428 440 N/A INTRINSIC
low complexity region 467 491 N/A INTRINSIC
CNH 561 876 1.39e-114 SMART
Meta Mutation Damage Score 0.0906 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
Validation Efficiency 100% (66/66)
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 mitogen-activated protein kinase kinase kinase kinase family. The encoded protein activates key effectors in cell signalling, among them c-Jun. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased susceptibility to experimental autoimmune encephalomyelitis, decreased stimulated immunoglobin production, decreased stimulated T cell proliferation, and abnormal Th1, Th2, and Th17 differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akirin1 A G 4: 123,630,649 (GRCm39) *192R probably null Het
Ankar A C 1: 72,697,641 (GRCm39) L836R probably damaging Het
Anxa7 G T 14: 20,521,636 (GRCm39) A20E unknown Het
Arhgap1 T A 2: 91,498,543 (GRCm39) Y147N probably damaging Het
Arid2 T C 15: 96,268,029 (GRCm39) V714A probably benign Het
Arrdc3 T C 13: 81,031,776 (GRCm39) L3P probably damaging Het
Bhmt2 T C 13: 93,799,830 (GRCm39) D202G possibly damaging Het
Bub1b A G 2: 118,437,095 (GRCm39) R98G probably damaging Het
Capn10 T C 1: 92,871,146 (GRCm39) Y319H probably damaging Het
Cep95 T C 11: 106,709,529 (GRCm39) F115S probably damaging Het
Chsy3 A T 18: 59,309,560 (GRCm39) probably null Het
Cnot1 T C 8: 96,460,757 (GRCm39) N1755S probably benign Het
Cntn4 A G 6: 106,656,378 (GRCm39) N893S probably benign Het
Ctsh G A 9: 89,936,657 (GRCm39) A19T possibly damaging Het
Cttn C A 7: 144,006,324 (GRCm39) E214* probably null Het
Des A G 1: 75,343,431 (GRCm39) E438G possibly damaging Het
Dnaja4 T C 9: 54,615,679 (GRCm39) V109A probably benign Het
Dock1 A G 7: 134,765,132 (GRCm39) E1708G possibly damaging Het
Dst T C 1: 34,229,934 (GRCm39) I2184T probably benign Het
Enc1 C T 13: 97,381,628 (GRCm39) T46I possibly damaging Het
Etaa1 A G 11: 17,896,108 (GRCm39) S670P probably damaging Het
Fam168b G A 1: 34,858,789 (GRCm39) T131M probably damaging Het
Fbn2 A T 18: 58,201,460 (GRCm39) V1319E probably damaging Het
Fcrl1 T A 3: 87,296,957 (GRCm39) V302E probably benign Het
Fgfr3 G C 5: 33,892,785 (GRCm39) E744Q probably null Het
Gmps T A 3: 63,922,960 (GRCm39) I641N probably damaging Het
Gpc2 T A 5: 138,276,670 (GRCm39) Y152F probably damaging Het
Herc2 G A 7: 55,756,201 (GRCm39) R747H possibly damaging Het
Herc2 A G 7: 55,782,228 (GRCm39) D1305G probably damaging Het
Ighv1-37 T C 12: 114,860,252 (GRCm39) T14A probably benign Het
Insr T A 8: 3,211,372 (GRCm39) M1156L possibly damaging Het
Kirrel2 C A 7: 30,154,731 (GRCm39) G127C probably damaging Het
Krt10 T C 11: 99,276,456 (GRCm39) N65S possibly damaging Het
Lrig3 A G 10: 125,850,738 (GRCm39) I1101M possibly damaging Het
Lrrc55 T G 2: 85,022,274 (GRCm39) N306H probably benign Het
Mapkap1 T G 2: 34,322,122 (GRCm39) H13Q probably damaging Het
Mki67 A G 7: 135,315,594 (GRCm39) L60S probably damaging Het
Muc4 A T 16: 32,570,817 (GRCm39) M626L probably benign Het
Mycbp2 C T 14: 103,444,117 (GRCm39) V1914I possibly damaging Het
Myo5b T C 18: 74,786,432 (GRCm39) F442L possibly damaging Het
Naa35 T A 13: 59,775,757 (GRCm39) M545K probably benign Het
Nrxn2 T A 19: 6,531,275 (GRCm39) V645E probably damaging Het
Or52z14 A G 7: 103,252,875 (GRCm39) T5A probably benign Het
Or5af2 T C 11: 58,707,939 (GRCm39) F35S probably damaging Het
Otx1 A T 11: 21,946,615 (GRCm39) Y231* probably null Het
Pcdhb19 A G 18: 37,630,211 (GRCm39) E2G probably benign Het
Pik3c2a G A 7: 116,017,223 (GRCm39) T178I probably damaging Het
Plxna4 A G 6: 32,214,643 (GRCm39) S613P probably damaging Het
Pon1 T G 6: 5,168,345 (GRCm39) D354A probably benign Het
Prtg T G 9: 72,758,783 (GRCm39) I379S probably damaging Het
Rbm17 T G 2: 11,595,504 (GRCm39) M234L probably benign Het
Rex1bd T C 8: 70,958,555 (GRCm39) S71G probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Samd7 G C 3: 30,805,272 (GRCm39) K18N probably benign Het
Shank1 A G 7: 43,994,337 (GRCm39) I833V unknown Het
Slc35f1 C A 10: 52,898,007 (GRCm39) D139E probably benign Het
Spata31d1a T C 13: 59,850,907 (GRCm39) N407S probably benign Het
Spata31d1d T A 13: 59,879,429 (GRCm39) I36F probably benign Het
Sstr4 T A 2: 148,238,169 (GRCm39) M260K probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trat1 A G 16: 48,574,634 (GRCm39) Y55H probably damaging Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Vcan T C 13: 89,828,075 (GRCm39) T3124A probably damaging Het
Wdfy4 A T 14: 32,821,074 (GRCm39) F1385Y possibly damaging Het
Xrcc3 T C 12: 111,778,530 (GRCm39) D7G probably damaging Het
Other mutations in Map4k3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Map4k3 APN 17 80,944,147 (GRCm39) critical splice donor site probably null
IGL01329:Map4k3 APN 17 80,951,613 (GRCm39) missense probably benign
IGL01626:Map4k3 APN 17 80,913,238 (GRCm39) missense probably damaging 0.97
IGL01896:Map4k3 APN 17 80,921,360 (GRCm39) missense probably benign 0.13
IGL02021:Map4k3 APN 17 80,917,255 (GRCm39) missense probably damaging 1.00
IGL02585:Map4k3 APN 17 80,961,348 (GRCm39) splice site probably benign
IGL03101:Map4k3 APN 17 80,963,284 (GRCm39) critical splice donor site probably null
IGL03231:Map4k3 APN 17 80,905,104 (GRCm39) missense probably damaging 1.00
IGL03267:Map4k3 APN 17 80,971,457 (GRCm39) missense probably damaging 1.00
homelander UTSW 17 80,909,622 (GRCm39) missense probably damaging 1.00
maple_forest UTSW 17 80,911,427 (GRCm39) missense probably benign 0.38
stormfront UTSW 17 80,944,161 (GRCm39) missense probably damaging 1.00
R0084:Map4k3 UTSW 17 80,963,343 (GRCm39) missense possibly damaging 0.91
R0211:Map4k3 UTSW 17 80,952,270 (GRCm39) missense probably damaging 1.00
R0211:Map4k3 UTSW 17 80,952,270 (GRCm39) missense probably damaging 1.00
R0612:Map4k3 UTSW 17 80,909,622 (GRCm39) missense probably damaging 1.00
R0842:Map4k3 UTSW 17 80,913,412 (GRCm39) missense probably benign 0.35
R2009:Map4k3 UTSW 17 80,971,517 (GRCm39) splice site probably benign
R2224:Map4k3 UTSW 17 80,937,883 (GRCm39) missense probably benign 0.00
R3851:Map4k3 UTSW 17 80,951,752 (GRCm39) splice site probably benign
R4049:Map4k3 UTSW 17 80,913,394 (GRCm39) missense probably benign 0.10
R4151:Map4k3 UTSW 17 80,951,963 (GRCm39) missense probably damaging 1.00
R4345:Map4k3 UTSW 17 80,904,980 (GRCm39) critical splice donor site probably null
R4405:Map4k3 UTSW 17 80,922,444 (GRCm39) critical splice donor site probably null
R4450:Map4k3 UTSW 17 80,911,411 (GRCm39) critical splice donor site probably null
R4970:Map4k3 UTSW 17 80,961,332 (GRCm39) missense probably benign 0.00
R5230:Map4k3 UTSW 17 80,922,599 (GRCm39) missense probably benign 0.00
R5459:Map4k3 UTSW 17 80,917,216 (GRCm39) missense probably damaging 1.00
R5568:Map4k3 UTSW 17 80,971,427 (GRCm39) missense possibly damaging 0.96
R5635:Map4k3 UTSW 17 80,920,924 (GRCm39) missense possibly damaging 0.94
R5827:Map4k3 UTSW 17 80,900,712 (GRCm39) critical splice donor site probably null
R5927:Map4k3 UTSW 17 80,921,348 (GRCm39) missense probably benign 0.06
R5951:Map4k3 UTSW 17 80,911,427 (GRCm39) missense probably benign 0.38
R5964:Map4k3 UTSW 17 80,952,191 (GRCm39) missense probably damaging 1.00
R6849:Map4k3 UTSW 17 80,937,842 (GRCm39) critical splice donor site probably null
R7040:Map4k3 UTSW 17 80,988,344 (GRCm39) missense probably damaging 0.98
R7233:Map4k3 UTSW 17 80,905,077 (GRCm39) missense possibly damaging 0.80
R7511:Map4k3 UTSW 17 80,905,077 (GRCm39) missense possibly damaging 0.80
R7672:Map4k3 UTSW 17 80,922,500 (GRCm39) missense possibly damaging 0.58
R7680:Map4k3 UTSW 17 80,889,305 (GRCm39) missense probably benign 0.02
R7804:Map4k3 UTSW 17 80,922,499 (GRCm39) missense probably damaging 0.98
R8170:Map4k3 UTSW 17 80,913,289 (GRCm39) missense possibly damaging 0.88
R8397:Map4k3 UTSW 17 80,971,446 (GRCm39) missense probably damaging 1.00
R8745:Map4k3 UTSW 17 80,944,164 (GRCm39) missense possibly damaging 0.85
R9106:Map4k3 UTSW 17 81,035,257 (GRCm39) missense possibly damaging 0.95
R9622:Map4k3 UTSW 17 80,958,538 (GRCm39) missense probably damaging 0.99
R9658:Map4k3 UTSW 17 80,961,306 (GRCm39) missense probably benign 0.01
X0023:Map4k3 UTSW 17 80,900,520 (GRCm39) missense probably benign
Z1176:Map4k3 UTSW 17 80,925,766 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- CCAAAGTTCCAGAGGGATCGAG -3'
(R):5'- TAGTTGGACTGATACTGCGATTAAC -3'

Sequencing Primer
(F):5'- GAGAGAATCCATATAGTCCTCA -3'
(R):5'- TCTGTAACGAGATCTGACGC -3'
Posted On 2018-11-28