Incidental Mutation 'IGL01363:Dusp1'
ID 75837
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 # IGL01363
Quality Score
Status
Chromosome 17
Chromosomal Location 26724565-26727446 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 26725264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 365 (P365L)
Ref Sequence ENSEMBL: ENSMUSP00000025025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025025]
AlphaFold P28563
Predicted Effect probably damaging
Transcript: ENSMUST00000025025
AA Change: P365L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025025
Gene: ENSMUSG00000024190
AA Change: P365L

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,504,483 (GRCm39) F23S probably damaging Het
Abcg3 A G 5: 105,096,228 (GRCm39) V528A possibly damaging Het
Adgrv1 A G 13: 81,705,184 (GRCm39) V1542A probably damaging Het
Alkbh3 A G 2: 93,833,396 (GRCm39) probably null Het
Ang4 G T 14: 52,001,636 (GRCm39) T104K probably benign Het
Arhgef3 T A 14: 27,123,876 (GRCm39) C532* probably null Het
Bnip3 G A 7: 138,499,777 (GRCm39) T70I probably benign Het
Cast T C 13: 74,852,311 (GRCm39) E644G possibly damaging Het
Cenpc1 A T 5: 86,194,390 (GRCm39) C125* probably null Het
Crb2 C A 2: 37,683,845 (GRCm39) R1116S probably benign Het
Cyp2c67 T G 19: 39,628,411 (GRCm39) I178L probably damaging Het
Cyp2c68 T A 19: 39,691,871 (GRCm39) M351L probably benign Het
Gatb T C 3: 85,559,652 (GRCm39) L492P probably damaging Het
Igkv8-19 T C 6: 70,318,083 (GRCm39) S48G probably damaging Het
Isyna1 G A 8: 71,047,372 (GRCm39) V32I probably damaging Het
Itgb6 T A 2: 60,441,726 (GRCm39) N695Y possibly damaging Het
Klra8 T C 6: 130,092,561 (GRCm39) T247A probably benign Het
Mak G A 13: 41,206,853 (GRCm39) probably benign Het
Minar2 G A 18: 59,205,380 (GRCm39) G98D probably damaging Het
Mndal T A 1: 173,685,022 (GRCm39) T516S possibly damaging Het
Mphosph9 G T 5: 124,400,084 (GRCm39) T939K probably damaging Het
Nfrkb A G 9: 31,325,667 (GRCm39) T1037A possibly damaging Het
Or2m13 C T 16: 19,226,333 (GRCm39) M145I probably benign Het
Or8c9 A G 9: 38,240,999 (GRCm39) T39A probably benign Het
Pard3b A G 1: 62,676,799 (GRCm39) Y1011C probably damaging Het
Parm1 G A 5: 91,760,877 (GRCm39) V250M probably damaging Het
Pgap2 T G 7: 101,875,489 (GRCm39) M1R probably null Het
Phlpp2 T C 8: 110,663,729 (GRCm39) F923L probably benign Het
Polr1a T A 6: 71,925,470 (GRCm39) M739K probably benign Het
Pramel1 A G 4: 143,123,955 (GRCm39) Y210C probably benign Het
Pramel27 A T 4: 143,579,846 (GRCm39) Y477F probably benign Het
Raver2 A G 4: 100,977,780 (GRCm39) probably benign Het
Rb1cc1 C T 1: 6,320,333 (GRCm39) L1251F probably benign Het
Ros1 T A 10: 52,042,238 (GRCm39) Y238F probably damaging Het
Shroom3 T C 5: 93,088,852 (GRCm39) L534P probably benign Het
Tjp1 A T 7: 64,952,713 (GRCm39) F1540L possibly damaging Het
Tmem200b C A 4: 131,649,704 (GRCm39) P208Q probably benign Het
Tmem236 T C 2: 14,179,441 (GRCm39) L14P probably damaging Het
Tubgcp6 A T 15: 88,991,728 (GRCm39) I623N probably damaging Het
Vmn1r119 C T 7: 20,746,056 (GRCm39) V109I probably benign Het
Vmn2r98 A G 17: 19,286,020 (GRCm39) N173D probably benign Het
Other mutations in Dusp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Dusp1 APN 17 26,725,295 (GRCm39) missense probably benign 0.05
IGL01362:Dusp1 APN 17 26,725,618 (GRCm39) missense probably benign 0.16
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