Incidental Mutation 'IGL01025:Dusp4'
ID 60086
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: 0.148) question?
Stock # IGL01025
Quality Score
Status
Chromosome 8
Chromosomal Location 35274451-35287048 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35285666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 309 (E309V)
Ref Sequence ENSEMBL: ENSMUSP00000033930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033930]
AlphaFold Q8BFV3
Predicted Effect probably benign
Transcript: ENSMUST00000033930
AA Change: E309V

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000033930
Gene: ENSMUSG00000031530
AA Change: E309V

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 G A 4: 155,986,676 (GRCm39) V335M probably damaging Het
Apex1 C T 14: 51,163,711 (GRCm39) L113F possibly damaging Het
Bltp1 T A 3: 37,100,429 (GRCm39) H1218Q possibly damaging Het
Cd33 C T 7: 43,182,329 (GRCm39) V39M probably damaging Het
Chek2 A G 5: 110,996,536 (GRCm39) D166G probably damaging Het
Col2a1 T C 15: 97,874,054 (GRCm39) K1376R unknown Het
Cpd C T 11: 76,686,439 (GRCm39) R963H probably damaging Het
Cracd A G 5: 76,805,921 (GRCm39) probably benign Het
Cyp2c67 A C 19: 39,628,376 (GRCm39) Y189* probably null Het
Dock6 T C 9: 21,723,103 (GRCm39) E1606G possibly damaging Het
Dync2h1 A G 9: 7,162,789 (GRCm39) I600T probably damaging Het
Fer1l4 A G 2: 155,894,105 (GRCm39) V66A probably benign Het
Fktn T C 4: 53,737,568 (GRCm39) L269P possibly damaging Het
Ftsj3 A G 11: 106,141,185 (GRCm39) I645T probably damaging Het
Fxr2 A G 11: 69,534,713 (GRCm39) H198R probably damaging Het
Fzd7 T C 1: 59,523,539 (GRCm39) V474A probably damaging Het
Gm10295 T A 7: 71,000,406 (GRCm39) D58V unknown Het
Hdlbp T C 1: 93,357,891 (GRCm39) I337V probably benign Het
Hydin T C 8: 111,053,033 (GRCm39) V235A probably benign Het
Igfbp4 C T 11: 98,939,069 (GRCm39) H30Y probably damaging Het
Kcna4 T C 2: 107,126,736 (GRCm39) V490A probably damaging Het
Kcnj13 T G 1: 87,314,700 (GRCm39) D174A probably benign Het
Krt7 T A 15: 101,321,302 (GRCm39) L373Q probably benign Het
Lama3 G A 18: 12,614,094 (GRCm39) V1288I probably benign Het
Mroh9 T C 1: 162,875,435 (GRCm39) D488G possibly damaging Het
Myh7 T C 14: 55,216,994 (GRCm39) E1121G probably damaging Het
Myom1 A G 17: 71,384,912 (GRCm39) N768D probably damaging Het
Naa16 T C 14: 79,622,196 (GRCm39) T48A probably damaging Het
Naglu C T 11: 100,964,773 (GRCm39) P287S probably benign Het
Nipbl A G 15: 8,379,939 (GRCm39) V951A possibly damaging Het
Nlrp3 T A 11: 59,442,713 (GRCm39) M755K probably benign Het
Nlrp4e T C 7: 23,052,586 (GRCm39) probably benign Het
Nt5dc1 C T 10: 34,283,553 (GRCm39) A79T possibly damaging Het
Or10aa3 T C 1: 173,878,251 (GRCm39) F104S probably damaging Het
Or6c205 A T 10: 129,086,609 (GRCm39) I69F possibly damaging Het
Or8b47 A G 9: 38,435,029 (GRCm39) probably benign Het
Otof A G 5: 30,541,597 (GRCm39) L774P possibly damaging Het
Phf20l1 C T 15: 66,484,981 (GRCm39) R322C probably damaging Het
Pkhd1 C T 1: 20,279,400 (GRCm39) G2973R probably benign Het
Plekhg5 G T 4: 152,192,983 (GRCm39) D613Y probably damaging Het
Ppm1h T A 10: 122,714,534 (GRCm39) probably null Het
Pramel31 T A 4: 144,089,947 (GRCm39) L329Q probably damaging Het
Prpf39 T C 12: 65,089,255 (GRCm39) probably benign Het
Rtn3 A G 19: 7,460,406 (GRCm39) S15P unknown Het
Slc22a28 G T 19: 8,094,272 (GRCm39) probably benign Het
Slc4a5 T A 6: 83,239,515 (GRCm39) L143Q probably damaging Het
Sox17 T C 1: 4,562,426 (GRCm39) D130G possibly damaging Het
Stag1 A G 9: 100,833,710 (GRCm39) T1108A possibly damaging Het
Sugp2 G A 8: 70,695,185 (GRCm39) D53N probably damaging Het
Trim33 G A 3: 103,261,234 (GRCm39) probably benign Het
Ttn A G 2: 76,629,568 (GRCm39) I14291T probably damaging Het
Ttn A G 2: 76,619,869 (GRCm39) V15933A probably damaging Het
Tulp3 A C 6: 128,302,847 (GRCm39) I324S probably damaging Het
Zfhx2 T C 14: 55,301,717 (GRCm39) E2089G probably damaging Het
Zhx1 T C 15: 57,918,075 (GRCm39) D57G probably benign Het
Other mutations in Dusp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02948:Dusp4 APN 8 35,285,726 (GRCm39) missense probably damaging 1.00
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 2013-07-11