Incidental Mutation 'IGL02977:Mapk13'
ID 406440
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapk13
Ensembl Gene ENSMUSG00000004864
Gene Name mitogen-activated protein kinase 13
Synonyms p38 delta MAP kinase, SAPK4, Serk4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # IGL02977
Quality Score
Status
Chromosome 17
Chromosomal Location 28988260-28997678 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 28995322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 181 (G181V)
Ref Sequence ENSEMBL: ENSMUSP00000115659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004986] [ENSMUST00000129096]
AlphaFold Q9Z1B7
Predicted Effect probably damaging
Transcript: ENSMUST00000004986
AA Change: G181V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004986
Gene: ENSMUSG00000004864
AA Change: G181V

DomainStartEndE-ValueType
S_TKc 25 308 8.72e-97 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124099
Predicted Effect probably damaging
Transcript: ENSMUST00000129096
AA Change: G181V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115659
Gene: ENSMUSG00000004864
AA Change: G181V

DomainStartEndE-ValueType
Pfam:Pkinase 25 209 1.1e-49 PFAM
Pfam:Pkinase_Tyr 27 210 2e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133786
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 mitogen-activated protein (MAP) kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The encoded protein is a p38 MAP kinase and is activated by proinflammatory cytokines and cellular stress. Substrates of the encoded protein include the transcription factor ATF2 and the microtubule dynamics regulator stathmin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit improved glucose tolerance, increased insulin secretion, decreased blood glucose, and decreased susceptibility to diet- or chemically-induced diabetes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik C T 8: 125,587,930 (GRCm39) V57M probably benign Het
4933440M02Rik T A 7: 124,930,874 (GRCm39) noncoding transcript Het
Bmp5 A G 9: 75,801,081 (GRCm39) T404A probably damaging Het
Cep192 T C 18: 67,985,976 (GRCm39) V1660A probably damaging Het
Csmd2 C A 4: 128,387,069 (GRCm39) Y2121* probably null Het
Daam1 G A 12: 71,990,946 (GRCm39) A187T unknown Het
Dnaja4 T C 9: 54,621,794 (GRCm39) L343P possibly damaging Het
Dym T C 18: 75,196,246 (GRCm39) probably null Het
F5 A T 1: 164,021,590 (GRCm39) D1355V probably damaging Het
Fcgbpl1 C T 7: 27,863,797 (GRCm39) T2523M possibly damaging Het
Gcnt1 A T 19: 17,306,738 (GRCm39) I329N probably damaging Het
Gm10110 T C 14: 90,134,768 (GRCm39) noncoding transcript Het
Hdgfl2 A G 17: 56,406,319 (GRCm39) N569S possibly damaging Het
Hivep1 T C 13: 42,309,412 (GRCm39) S551P possibly damaging Het
Hpse2 G A 19: 42,777,561 (GRCm39) probably benign Het
Hspe1 T C 1: 55,130,232 (GRCm39) Y88H probably benign Het
Ifi44 A T 3: 151,445,016 (GRCm39) M312K probably benign Het
Lrp1b T G 2: 40,620,747 (GRCm39) D3577A probably damaging Het
Oprl1 G T 2: 181,360,304 (GRCm39) C115F probably damaging Het
Or4d1 A G 11: 87,804,956 (GRCm39) S259P possibly damaging Het
Or5d37 T C 2: 87,923,915 (GRCm39) I122V probably benign Het
Psg22 A G 7: 18,453,524 (GRCm39) D112G probably benign Het
Rp1l1 T A 14: 64,265,599 (GRCm39) I395N probably benign Het
Simc1 T C 13: 54,674,120 (GRCm39) S823P probably benign Het
Slc9b1 T C 3: 135,103,484 (GRCm39) L538P probably damaging Het
Smad2 T A 18: 76,422,235 (GRCm39) Y216N possibly damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tonsl T A 15: 76,517,073 (GRCm39) Q882L probably benign Het
Trav13-2 C T 14: 53,872,764 (GRCm39) T80I probably damaging Het
Uaca C T 9: 60,773,662 (GRCm39) P388S probably benign Het
Vmn2r116 A G 17: 23,607,748 (GRCm39) R439G possibly damaging Het
Vmn2r18 C A 5: 151,510,149 (GRCm39) A75S probably damaging Het
Other mutations in Mapk13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Mapk13 APN 17 28,995,379 (GRCm39) missense probably damaging 1.00
IGL01918:Mapk13 APN 17 28,994,304 (GRCm39) missense probably damaging 1.00
IGL02265:Mapk13 APN 17 28,996,692 (GRCm39) splice site probably benign
IGL02451:Mapk13 APN 17 28,995,387 (GRCm39) missense probably damaging 1.00
IGL03118:Mapk13 APN 17 28,996,709 (GRCm39) missense probably benign 0.14
IGL03188:Mapk13 APN 17 28,995,557 (GRCm39) intron probably benign
R0501:Mapk13 UTSW 17 28,995,327 (GRCm39) missense probably damaging 1.00
R0538:Mapk13 UTSW 17 28,994,229 (GRCm39) missense probably damaging 1.00
R2240:Mapk13 UTSW 17 28,997,085 (GRCm39) missense probably damaging 0.98
R4368:Mapk13 UTSW 17 28,996,539 (GRCm39) splice site probably null
R4613:Mapk13 UTSW 17 28,988,426 (GRCm39) missense probably damaging 1.00
R4649:Mapk13 UTSW 17 28,997,461 (GRCm39) nonsense probably null
R4684:Mapk13 UTSW 17 28,989,023 (GRCm39) missense probably damaging 1.00
R4796:Mapk13 UTSW 17 28,994,528 (GRCm39) missense probably damaging 1.00
R4863:Mapk13 UTSW 17 28,995,284 (GRCm39) missense probably damaging 1.00
R4923:Mapk13 UTSW 17 28,997,197 (GRCm39) missense probably benign
R5220:Mapk13 UTSW 17 28,997,465 (GRCm39) missense probably benign 0.00
R5247:Mapk13 UTSW 17 28,996,725 (GRCm39) missense probably benign 0.01
R5370:Mapk13 UTSW 17 28,995,326 (GRCm39) nonsense probably null
R6838:Mapk13 UTSW 17 28,996,535 (GRCm39) splice site probably null
R6843:Mapk13 UTSW 17 28,994,427 (GRCm39) splice site probably null
R7187:Mapk13 UTSW 17 28,995,361 (GRCm39) missense probably damaging 1.00
R9018:Mapk13 UTSW 17 28,996,760 (GRCm39) missense probably benign
R9227:Mapk13 UTSW 17 28,994,532 (GRCm39) missense probably damaging 1.00
R9230:Mapk13 UTSW 17 28,994,532 (GRCm39) missense probably damaging 1.00
R9241:Mapk13 UTSW 17 28,990,187 (GRCm39) missense probably damaging 0.99
R9249:Mapk13 UTSW 17 28,988,490 (GRCm39) missense probably damaging 1.00
R9274:Mapk13 UTSW 17 28,988,490 (GRCm39) missense probably damaging 1.00
R9777:Mapk13 UTSW 17 28,997,075 (GRCm39) missense probably damaging 1.00
Z1088:Mapk13 UTSW 17 28,996,507 (GRCm39) missense possibly damaging 0.48
Posted On 2016-08-02