Incidental Mutation 'IGL02948:Dusp4'
ID 364836
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dusp4
Ensembl Gene ENSMUSG00000031530
Gene Name dual specificity phosphatase 4
Synonyms 2700078F24Rik, E130306H24Rik, MKP2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # IGL02948
Quality Score
Status
Chromosome 8
Chromosomal Location 35274451-35287048 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 35285726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 329 (G329V)
Ref Sequence ENSEMBL: ENSMUSP00000033930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033930]
AlphaFold Q8BFV3
Predicted Effect probably damaging
Transcript: ENSMUST00000033930
AA Change: G329V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033930
Gene: ENSMUSG00000031530
AA Change: G329V

DomainStartEndE-ValueType
RHOD 35 160 4.16e-15 SMART
DSPc 199 337 2.91e-64 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, ERK2 and JNK, is expressed in a variety of tissues, and is localized in the nucleus. Two alternatively spliced transcript variants, encoding distinct isoforms, have been observed for this gene. In addition, multiple polyadenylation sites have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit a decrease in B cell apoptosis of bone marrow-derived, IL-7-dependent pro-B lymphocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,094,318 (GRCm39) probably benign Het
Ano3 A T 2: 110,527,363 (GRCm39) probably benign Het
Arpp21 T C 9: 112,005,268 (GRCm39) Y193C probably damaging Het
Atm G A 9: 53,364,740 (GRCm39) probably benign Het
Ceacam13 C T 7: 17,744,988 (GRCm39) probably benign Het
Cenpi T A X: 133,250,017 (GRCm39) C599S possibly damaging Het
Clec7a A C 6: 129,442,441 (GRCm39) D195E possibly damaging Het
Cnksr1 T C 4: 133,962,417 (GRCm39) probably null Het
Cntn1 A G 15: 92,143,891 (GRCm39) T285A probably benign Het
Emb C A 13: 117,409,602 (GRCm39) probably benign Het
Esyt1 A T 10: 128,355,040 (GRCm39) S496T probably damaging Het
Evpl T C 11: 116,112,648 (GRCm39) T1681A probably damaging Het
Fam131b A C 6: 42,297,926 (GRCm39) probably benign Het
Fam162b T C 10: 51,463,392 (GRCm39) M92V probably damaging Het
Fbxw2 T C 2: 34,695,723 (GRCm39) *455W probably null Het
Gm12886 A G 4: 121,280,234 (GRCm39) L14P unknown Het
Gpc4 A T X: 51,163,178 (GRCm39) V235E probably damaging Het
Gss A G 2: 155,419,541 (GRCm39) L170P probably damaging Het
Hbs1l C T 10: 21,217,610 (GRCm39) probably benign Het
Hhatl T C 9: 121,618,857 (GRCm39) M92V probably benign Het
Hhla1 A T 15: 65,814,542 (GRCm39) L194H probably damaging Het
Hivep2 C A 10: 14,004,757 (GRCm39) R452S probably benign Het
Homer2 C A 7: 81,299,393 (GRCm39) W24L probably damaging Het
Lhcgr A T 17: 89,050,050 (GRCm39) L492H probably damaging Het
Lrba C A 3: 86,217,691 (GRCm39) probably null Het
Lrp2 G T 2: 69,318,181 (GRCm39) P2090Q probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Madd T A 2: 90,973,172 (GRCm39) M1497L probably benign Het
Naprt C T 15: 75,764,206 (GRCm39) R336Q probably damaging Het
Nars1 A G 18: 64,638,266 (GRCm39) C266R possibly damaging Het
Or10v1 T A 19: 11,874,145 (GRCm39) Y253* probably null Het
Or5k8 T A 16: 58,644,451 (GRCm39) Q207L probably benign Het
Pard3 A T 8: 128,032,975 (GRCm39) T190S probably benign Het
Pstpip2 A G 18: 77,942,507 (GRCm39) N86S probably benign Het
Ptgfrn T C 3: 100,980,135 (GRCm39) T402A probably benign Het
Rnf130 T C 11: 49,943,598 (GRCm39) probably benign Het
Ropn1l T C 15: 31,451,325 (GRCm39) D53G possibly damaging Het
Rps6ka2 G A 17: 7,521,849 (GRCm39) probably null Het
Rtn2 T C 7: 19,027,036 (GRCm39) S17P probably damaging Het
Shank2 T C 7: 143,963,373 (GRCm39) V327A probably benign Het
Slc22a16 T G 10: 40,449,958 (GRCm39) Y131* probably null Het
Slc28a2 T A 2: 122,288,458 (GRCm39) M583K possibly damaging Het
Slco1a6 G T 6: 142,078,961 (GRCm39) probably null Het
Slfn8 T A 11: 82,894,078 (GRCm39) I854F probably damaging Het
Strip1 T C 3: 107,520,582 (GRCm39) R823G probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tcl1b5 C T 12: 105,145,273 (GRCm39) T79M probably benign Het
Tmem104 G T 11: 115,088,122 (GRCm39) A36S probably damaging Het
Trim55 T A 3: 19,725,116 (GRCm39) L211Q probably damaging Het
Trim80 T C 11: 115,332,419 (GRCm39) W204R possibly damaging Het
Ttbk1 G A 17: 46,757,256 (GRCm39) T1126I probably benign Het
Ubqln2 C T X: 152,282,692 (GRCm39) Q415* probably null Het
Unc13a C T 8: 72,103,193 (GRCm39) R931H possibly damaging Het
Utp4 T A 8: 107,621,273 (GRCm39) S17T probably benign Het
Other mutations in Dusp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Dusp4 APN 8 35,285,666 (GRCm39) missense probably benign 0.35
R1537:Dusp4 UTSW 8 35,285,570 (GRCm39) missense probably benign 0.00
R1644:Dusp4 UTSW 8 35,285,633 (GRCm39) missense probably damaging 1.00
R4492:Dusp4 UTSW 8 35,274,890 (GRCm39) missense possibly damaging 0.56
R4826:Dusp4 UTSW 8 35,285,671 (GRCm39) missense probably damaging 1.00
R5396:Dusp4 UTSW 8 35,284,458 (GRCm39) missense probably damaging 1.00
R5637:Dusp4 UTSW 8 35,284,451 (GRCm39) missense probably damaging 1.00
R6850:Dusp4 UTSW 8 35,283,651 (GRCm39) nonsense probably null
R7078:Dusp4 UTSW 8 35,275,065 (GRCm39) missense probably damaging 0.99
R8346:Dusp4 UTSW 8 35,275,092 (GRCm39) missense possibly damaging 0.91
R8770:Dusp4 UTSW 8 35,274,938 (GRCm39) missense probably benign 0.04
R8944:Dusp4 UTSW 8 35,274,941 (GRCm39) missense probably benign 0.00
R8955:Dusp4 UTSW 8 35,284,462 (GRCm39) missense probably damaging 1.00
R9051:Dusp4 UTSW 8 35,284,345 (GRCm39) missense probably damaging 0.99
R9578:Dusp4 UTSW 8 35,274,822 (GRCm39) start gained probably benign
R9675:Dusp4 UTSW 8 35,274,964 (GRCm39) missense probably benign 0.01
RF012:Dusp4 UTSW 8 35,274,953 (GRCm39) small deletion probably benign
Z1177:Dusp4 UTSW 8 35,275,244 (GRCm39) missense probably benign 0.12
Posted On 2015-12-18