Incidental Mutation 'IGL01346:Dusp1'
ID 75058
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dusp1
Ensembl Gene ENSMUSG00000024190
Gene Name dual specificity phosphatase 1
Synonyms Ptpn16, MKP1, erp, mkp-1, 3CH134
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01346
Quality Score
Status
Chromosome 17
Chromosomal Location 26724565-26727446 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26725295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 355 (N355D)
Ref Sequence ENSEMBL: ENSMUSP00000025025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025025]
AlphaFold P28563
Predicted Effect probably benign
Transcript: ENSMUST00000025025
AA Change: N355D

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000025025
Gene: ENSMUSG00000024190
AA Change: N355D

DomainStartEndE-ValueType
RHOD 10 134 6.41e-16 SMART
DSPc 173 311 2.22e-69 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126178
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146077
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The expression of DUSP1 gene is induced in human skin fibroblasts by oxidative/heat stress and growth factors. It specifies a protein with structural features similar to members of the non-receptor-type protein-tyrosine phosphatase family, and which has significant amino-acid sequence similarity to a Tyr/Ser-protein phosphatase encoded by the late gene H1 of vaccinia virus. The bacterially expressed and purified DUSP1 protein has intrinsic phosphatase activity, and specifically inactivates mitogen-activated protein (MAP) kinase in vitro by the concomitant dephosphorylation of both its phosphothreonine and phosphotyrosine residues. Furthermore, it suppresses the activation of MAP kinase by oncogenic ras in extracts of Xenopus oocytes. Thus, DUSP1 may play an important role in the human cellular response to environmental stress as well as in the negative regulation of cellular proliferation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice were viable, fertile, and showed no apparent morphological defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A G 2: 150,152,980 (GRCm39) V135A unknown Het
Cnot4 A T 6: 35,047,183 (GRCm39) I143N probably damaging Het
Cnot6l A T 5: 96,234,105 (GRCm39) M302K probably damaging Het
Dmxl2 T C 9: 54,322,759 (GRCm39) T1542A probably damaging Het
Dnaaf9 A G 2: 130,633,766 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,363,116 (GRCm39) S3893P probably benign Het
Duox2 A T 2: 122,117,683 (GRCm39) probably benign Het
Fam76b T C 9: 13,741,046 (GRCm39) C60R probably damaging Het
Gnptab G A 10: 88,272,041 (GRCm39) V944I possibly damaging Het
Gys1 A G 7: 45,091,961 (GRCm39) Y249C probably damaging Het
Ift88 A T 14: 57,681,862 (GRCm39) E215D probably damaging Het
Kcnu1 T C 8: 26,424,551 (GRCm39) probably benign Het
Lmln C A 16: 32,937,490 (GRCm39) N618K probably benign Het
Lrrc75a T C 11: 62,496,813 (GRCm39) T250A probably damaging Het
Mpp4 A G 1: 59,164,719 (GRCm39) S435P probably damaging Het
Myo1c T A 11: 75,563,076 (GRCm39) V1036E probably damaging Het
Nlrp12 T G 7: 3,289,316 (GRCm39) T399P probably damaging Het
Or2y16 A G 11: 49,335,595 (GRCm39) R306G probably benign Het
Or4c118 A G 2: 88,974,575 (GRCm39) F264S possibly damaging Het
Parp8 A T 13: 117,031,600 (GRCm39) C332S possibly damaging Het
Pdcd11 G A 19: 47,098,053 (GRCm39) V780I probably benign Het
Plekha5 A G 6: 140,480,292 (GRCm39) probably benign Het
Ppt1 T A 4: 122,737,848 (GRCm39) I62K probably damaging Het
Proser3 T C 7: 30,249,071 (GRCm39) N7S probably benign Het
Ptk2b A G 14: 66,414,567 (GRCm39) L311P possibly damaging Het
Rasal2 T C 1: 156,988,786 (GRCm39) N706S probably benign Het
Ripk2 A G 4: 16,132,775 (GRCm39) probably null Het
Setx T A 2: 29,034,821 (GRCm39) H435Q probably damaging Het
Smurf2 T A 11: 106,721,741 (GRCm39) probably benign Het
Snx32 A G 19: 5,547,764 (GRCm39) L182P possibly damaging Het
Stpg2 A G 3: 139,125,635 (GRCm39) probably benign Het
Taar2 A G 10: 23,816,997 (GRCm39) Y179C probably damaging Het
Tenm2 G A 11: 35,918,232 (GRCm39) R1843* probably null Het
Tmco4 T C 4: 138,748,260 (GRCm39) I280T probably damaging Het
Tuba4a C A 1: 75,193,921 (GRCm39) C46F probably damaging Het
Ubr1 A G 2: 120,703,603 (GRCm39) probably null Het
Vldlr A T 19: 27,217,081 (GRCm39) I45L possibly damaging Het
Vmn2r120 C A 17: 57,852,232 (GRCm39) G28V probably benign Het
Vmn2r37 C A 7: 9,209,680 (GRCm39) V611L probably benign Het
Vmn2r67 A G 7: 84,786,127 (GRCm39) L626P probably damaging Het
Wdr19 C T 5: 65,379,082 (GRCm39) probably benign Het
Zfp595 T A 13: 67,464,749 (GRCm39) K505* probably null Het
Other mutations in Dusp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Dusp1 APN 17 26,725,618 (GRCm39) missense probably benign 0.16
IGL01363:Dusp1 APN 17 26,725,264 (GRCm39) missense probably damaging 0.99
IGL02186:Dusp1 APN 17 26,726,032 (GRCm39) nonsense probably null
R0374:Dusp1 UTSW 17 26,727,143 (GRCm39) missense probably damaging 0.98
R0385:Dusp1 UTSW 17 26,726,670 (GRCm39) missense probably benign 0.00
R1344:Dusp1 UTSW 17 26,727,293 (GRCm39) missense probably benign 0.28
R1418:Dusp1 UTSW 17 26,727,293 (GRCm39) missense probably benign 0.28
R1773:Dusp1 UTSW 17 26,726,081 (GRCm39) missense probably damaging 1.00
R2269:Dusp1 UTSW 17 26,726,093 (GRCm39) missense probably damaging 1.00
R2968:Dusp1 UTSW 17 26,726,679 (GRCm39) missense probably damaging 1.00
R5253:Dusp1 UTSW 17 26,727,191 (GRCm39) missense probably benign 0.01
R6952:Dusp1 UTSW 17 26,726,577 (GRCm39) missense probably benign 0.03
R7909:Dusp1 UTSW 17 26,726,586 (GRCm39) missense probably benign 0.02
R9302:Dusp1 UTSW 17 26,726,148 (GRCm39) missense probably damaging 1.00
Z1177:Dusp1 UTSW 17 26,726,169 (GRCm39) frame shift probably null
Posted On 2013-10-07