Incidental Mutation 'IGL01025:Dusp4'
ID60086
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dusp4
Ensembl Gene ENSMUSG00000031530
Gene Namedual specificity phosphatase 4
SynonymsMKP2, E130306H24Rik, 2700078F24Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.211) question?
Stock #IGL01025
Quality Score
Status
Chromosome8
Chromosomal Location34807297-34819894 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 34818512 bp
ZygosityHeterozygous
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]
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
4932438A13Rik T A 3: 37,046,280 H1218Q possibly damaging Het
Acap3 G A 4: 155,902,219 V335M probably damaging Het
Apex1 C T 14: 50,926,254 L113F possibly damaging Het
C530008M17Rik A G 5: 76,658,074 probably benign Het
Cd33 C T 7: 43,532,905 V39M probably damaging Het
Chek2 A G 5: 110,848,670 D166G probably damaging Het
Col2a1 T C 15: 97,976,173 K1376R unknown Het
Cpd C T 11: 76,795,613 R963H probably damaging Het
Cyp2c67 A C 19: 39,639,932 Y189* probably null Het
Dock6 T C 9: 21,811,807 E1606G possibly damaging Het
Dync2h1 A G 9: 7,162,789 I600T probably damaging Het
Fer1l4 A G 2: 156,052,185 V66A probably benign Het
Fktn T C 4: 53,737,568 L269P possibly damaging Het
Ftsj3 A G 11: 106,250,359 I645T probably damaging Het
Fxr2 A G 11: 69,643,887 H198R probably damaging Het
Fzd7 T C 1: 59,484,380 V474A probably damaging Het
Gm10295 T A 7: 71,350,658 D58V unknown Het
Gm13119 T A 4: 144,363,377 L329Q probably damaging Het
Hdlbp T C 1: 93,430,169 I337V probably benign Het
Hydin T C 8: 110,326,401 V235A probably benign Het
Igfbp4 C T 11: 99,048,243 H30Y probably damaging Het
Kcna4 T C 2: 107,296,391 V490A probably damaging Het
Kcnj13 T G 1: 87,386,978 D174A probably benign Het
Krt7 T A 15: 101,423,421 L373Q probably benign Het
Lama3 G A 18: 12,481,037 V1288I probably benign Het
Mroh9 T C 1: 163,047,866 D488G possibly damaging Het
Myh7 T C 14: 54,979,537 E1121G probably damaging Het
Myom1 A G 17: 71,077,917 N768D probably damaging Het
Naa16 T C 14: 79,384,756 T48A probably damaging Het
Naglu C T 11: 101,073,947 P287S probably benign Het
Nipbl A G 15: 8,350,455 V951A possibly damaging Het
Nlrp3 T A 11: 59,551,887 M755K probably benign Het
Nlrp4e T C 7: 23,353,161 probably benign Het
Nt5dc1 C T 10: 34,407,557 A79T possibly damaging Het
Olfr432 T C 1: 174,050,685 F104S probably damaging Het
Olfr775 A T 10: 129,250,740 I69F possibly damaging Het
Olfr911-ps1 A G 9: 38,523,733 probably benign Het
Otof A G 5: 30,384,253 L774P possibly damaging Het
Phf20l1 C T 15: 66,613,132 R322C probably damaging Het
Pkhd1 C T 1: 20,209,176 G2973R probably benign Het
Plekhg5 G T 4: 152,108,526 D613Y probably damaging Het
Ppm1h T A 10: 122,878,629 probably null Het
Prpf39 T C 12: 65,042,481 probably benign Het
Rtn3 A G 19: 7,483,041 S15P unknown Het
Slc22a28 G T 19: 8,116,908 probably benign Het
Slc4a5 T A 6: 83,262,533 L143Q probably damaging Het
Sox17 T C 1: 4,492,203 D130G possibly damaging Het
Stag1 A G 9: 100,951,657 T1108A possibly damaging Het
Sugp2 G A 8: 70,242,535 D53N probably damaging Het
Trim33 G A 3: 103,353,918 probably benign Het
Ttn A G 2: 76,799,224 I14291T probably damaging Het
Ttn A G 2: 76,789,525 V15933A probably damaging Het
Tulp3 A C 6: 128,325,884 I324S probably damaging Het
Zfhx2 T C 14: 55,064,260 E2089G probably damaging Het
Zhx1 T C 15: 58,054,679 D57G probably benign Het
Other mutations in Dusp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02948:Dusp4 APN 8 34818572 missense probably damaging 1.00
R1537:Dusp4 UTSW 8 34818416 missense probably benign 0.00
R1644:Dusp4 UTSW 8 34818479 missense probably damaging 1.00
R4492:Dusp4 UTSW 8 34807736 missense possibly damaging 0.56
R4826:Dusp4 UTSW 8 34818517 missense probably damaging 1.00
R5396:Dusp4 UTSW 8 34817304 missense probably damaging 1.00
R5637:Dusp4 UTSW 8 34817297 missense probably damaging 1.00
R6850:Dusp4 UTSW 8 34816497 nonsense probably null
R7078:Dusp4 UTSW 8 34807911 missense probably damaging 0.99
R8346:Dusp4 UTSW 8 34807938 missense possibly damaging 0.91
RF012:Dusp4 UTSW 8 34807799 small deletion probably benign
Z1177:Dusp4 UTSW 8 34808090 missense probably benign 0.12
Posted On2013-07-11