Incidental Mutation 'IGL01949:Dusp5'
ID 181000
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dusp5
Ensembl Gene ENSMUSG00000034765
Gene Name dual specificity phosphatase 5
Synonyms LOC240672
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01949
Quality Score
Status
Chromosome 19
Chromosomal Location 53517576-53530240 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53525904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 182 (I182T)
Ref Sequence ENSEMBL: ENSMUSP00000047900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038287]
AlphaFold Q1HL35
Predicted Effect probably damaging
Transcript: ENSMUST00000038287
AA Change: I182T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047900
Gene: ENSMUSG00000034765
AA Change: I182T

DomainStartEndE-ValueType
RHOD 9 138 1.88e-13 SMART
DSPc 178 316 4.48e-56 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, is expressed in a variety of tissues with the highest levels in pancreas and brain, and is localized in the nucleus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased proliferation and apoptosis and altered metabolic profiles in T cells. Mice homozygous for other null alleles exhibit altered eosinophilic response to parasicitc infection and increased susceptibility to induced tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,223,987 (GRCm39) R1247L probably benign Het
Atp2a3 T A 11: 72,872,723 (GRCm39) M757K probably damaging Het
Fuca1 T A 4: 135,650,420 (GRCm39) probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hap1 G T 11: 100,239,588 (GRCm39) D610E probably damaging Het
Hoxa6 T A 6: 52,183,511 (GRCm39) Y178F possibly damaging Het
Ighmbp2 A C 19: 3,315,538 (GRCm39) D627E probably benign Het
Itgae T C 11: 73,009,010 (GRCm39) I497T probably benign Het
Katnip G A 7: 125,361,014 (GRCm39) W108* probably null Het
Kbtbd3 A G 9: 4,331,066 (GRCm39) D480G possibly damaging Het
Kmt2b A T 7: 30,276,586 (GRCm39) probably null Het
Krt5 T A 15: 101,619,048 (GRCm39) M278L probably benign Het
Krtap4-9 G A 11: 99,676,391 (GRCm39) probably benign Het
Myl12a T C 17: 71,303,709 (GRCm39) D56G probably benign Het
Or2g25 T C 17: 37,970,357 (GRCm39) Y289C probably damaging Het
Pdgfra C A 5: 75,331,326 (GRCm39) H310Q probably damaging Het
Pglyrp2 G T 17: 32,635,080 (GRCm39) probably null Het
Polk C T 13: 96,620,046 (GRCm39) S718N probably benign Het
Ppip5k1 T A 2: 121,168,341 (GRCm39) H687L probably benign Het
Pram1 A T 17: 33,860,309 (GRCm39) Q292L probably damaging Het
Prodh2 A G 7: 30,209,190 (GRCm39) probably null Het
Rgs9 A T 11: 109,150,660 (GRCm39) probably null Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Stk-ps2 A G 1: 46,069,148 (GRCm39) noncoding transcript Het
Svep1 C T 4: 58,176,006 (GRCm39) G298R probably damaging Het
Troap T C 15: 98,979,102 (GRCm39) S341P probably benign Het
Ugt3a1 T C 15: 9,335,815 (GRCm39) F12S probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zfp236 G T 18: 82,642,521 (GRCm39) T1123K probably damaging Het
Other mutations in Dusp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02017:Dusp5 APN 19 53,525,937 (GRCm39) missense probably damaging 1.00
R4523:Dusp5 UTSW 19 53,526,032 (GRCm39) missense probably damaging 1.00
R5350:Dusp5 UTSW 19 53,529,665 (GRCm39) missense probably damaging 1.00
R7941:Dusp5 UTSW 19 53,525,964 (GRCm39) missense probably benign
R8021:Dusp5 UTSW 19 53,517,929 (GRCm39) missense probably benign 0.13
R8142:Dusp5 UTSW 19 53,525,912 (GRCm39) missense probably damaging 1.00
R8155:Dusp5 UTSW 19 53,529,537 (GRCm39) nonsense probably null
R8336:Dusp5 UTSW 19 53,529,406 (GRCm39) missense probably damaging 1.00
R8353:Dusp5 UTSW 19 53,518,113 (GRCm39) missense possibly damaging 0.48
R8881:Dusp5 UTSW 19 53,529,745 (GRCm39) missense probably benign 0.05
R9640:Dusp5 UTSW 19 53,526,051 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07