Incidental Mutation 'IGL02968:Dusp9'
ID 365692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dusp9
Ensembl Gene ENSMUSG00000031383
Gene Name dual specificity phosphatase 9
Synonyms Mpk4, Pyst3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # IGL02968
Quality Score
Status
Chromosome X
Chromosomal Location 72683025-72687120 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72685039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 222 (S222P)
Ref Sequence ENSEMBL: ENSMUSP00000019701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019701]
AlphaFold Q7TNL7
Predicted Effect probably benign
Transcript: ENSMUST00000019701
AA Change: S222P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000019701
Gene: ENSMUSG00000031383
AA Change: S222P

DomainStartEndE-ValueType
RHOD 8 204 2.51e-9 SMART
low complexity region 236 249 N/A INTRINSIC
DSPc 271 411 6.09e-67 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 is 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 shows selectivity for members of the ERK family of MAP kinases and is localized to the cytoplasm and nucleus. Aberrant expression of this gene is associated with type 2 diabetes and cancer progression in several cell types. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Hemizygous null male and heterozygous null female mice display embryonic lethality during organogenesis with abnormal placental labyrinth morphology when the allele is maternally inherited. Tetraploid rescue produces viable heterozygous and hemizygous mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,900,454 (GRCm39) D441V probably damaging Het
Abcd1 T C X: 72,760,664 (GRCm39) S10P possibly damaging Het
Acad12 T C 5: 121,748,101 (GRCm39) S106G probably benign Het
C1s1 T C 6: 124,517,310 (GRCm39) T127A probably damaging Het
Cela3a A G 4: 137,131,132 (GRCm39) V202A probably damaging Het
Cenpu T C 8: 47,009,230 (GRCm39) probably null Het
Exoc5 A G 14: 49,270,726 (GRCm39) probably null Het
Foxp1 G T 6: 99,052,822 (GRCm39) A90D probably damaging Het
Krt12 G T 11: 99,308,843 (GRCm39) A398E probably damaging Het
Mtss1 G T 15: 58,828,364 (GRCm39) T183K possibly damaging Het
Napa T C 7: 15,847,266 (GRCm39) probably benign Het
Nlrp2 T C 7: 5,304,024 (GRCm39) E167G possibly damaging Het
Nos2 T C 11: 78,828,463 (GRCm39) Y148H probably damaging Het
Or2t43 T C 11: 58,458,021 (GRCm39) D50G possibly damaging Het
Or51aa5 C T 7: 103,167,466 (GRCm39) V42M probably damaging Het
Or52e18 A T 7: 104,609,451 (GRCm39) F163I possibly damaging Het
Pde7a G A 3: 19,297,285 (GRCm39) R122* probably null Het
Pkdrej A T 15: 85,700,382 (GRCm39) Y1851* probably null Het
Rbl1 C T 2: 157,019,194 (GRCm39) R517H probably damaging Het
Rnf10 A T 5: 115,383,947 (GRCm39) S661T probably benign Het
Ryr1 T C 7: 28,743,318 (GRCm39) D3886G probably damaging Het
Samd9l A G 6: 3,376,026 (GRCm39) Y412H probably damaging Het
Scarf1 T C 11: 75,414,915 (GRCm39) S530P probably damaging Het
Spam1 A G 6: 24,796,442 (GRCm39) E131G possibly damaging Het
Tmem185b C A 1: 119,454,851 (GRCm39) A204E possibly damaging Het
Tshz3 A G 7: 36,469,249 (GRCm39) K413E probably damaging Het
Vps13d A G 4: 144,849,068 (GRCm39) S2448P probably benign Het
Xkr5 T C 8: 18,983,641 (GRCm39) S634G probably benign Het
Zic1 G A 9: 91,244,543 (GRCm39) T372M probably damaging Het
Other mutations in Dusp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4654:Dusp9 UTSW X 72,684,378 (GRCm39) missense probably benign 0.31
R7075:Dusp9 UTSW X 72,684,217 (GRCm39) small deletion probably benign
R7389:Dusp9 UTSW X 72,684,217 (GRCm39) small deletion probably benign
R7412:Dusp9 UTSW X 72,684,217 (GRCm39) small deletion probably benign
R7930:Dusp9 UTSW X 72,684,128 (GRCm39) small deletion probably benign
R7958:Dusp9 UTSW X 72,684,217 (GRCm39) small deletion probably benign
R8228:Dusp9 UTSW X 72,684,217 (GRCm39) small deletion probably benign
R8258:Dusp9 UTSW X 72,684,217 (GRCm39) small deletion probably benign
R8334:Dusp9 UTSW X 72,684,217 (GRCm39) small deletion probably benign
R8970:Dusp9 UTSW X 72,684,217 (GRCm39) small deletion probably benign
R9010:Dusp9 UTSW X 72,684,217 (GRCm39) small deletion probably benign
R9140:Dusp9 UTSW X 72,684,217 (GRCm39) small deletion probably benign
R9173:Dusp9 UTSW X 72,684,217 (GRCm39) small deletion probably benign
R9241:Dusp9 UTSW X 72,684,217 (GRCm39) small deletion probably benign
R9359:Dusp9 UTSW X 72,684,217 (GRCm39) small deletion probably benign
R9373:Dusp9 UTSW X 72,684,217 (GRCm39) small deletion probably benign
R9474:Dusp9 UTSW X 72,684,217 (GRCm39) small deletion probably benign
R9548:Dusp9 UTSW X 72,684,217 (GRCm39) small deletion probably benign
R9780:Dusp9 UTSW X 72,684,217 (GRCm39) small deletion probably benign
RF030:Dusp9 UTSW X 72,684,217 (GRCm39) small deletion probably benign
RF039:Dusp9 UTSW X 72,684,217 (GRCm39) small deletion probably benign
Posted On 2015-12-18