Incidental Mutation 'IGL02687:Dusp6'
ID303611
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dusp6
Ensembl Gene ENSMUSG00000019960
Gene Namedual specificity phosphatase 6
SynonymsPYST1, MKP-3, 1300019I03Rik, MKP3
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.649) question?
Stock #IGL02687
Quality Score
Status
Chromosome10
Chromosomal Location99263231-99267489 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 99266182 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 343 (F343L)
Ref Sequence ENSEMBL: ENSMUSP00000020118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020118] [ENSMUST00000220291]
Predicted Effect probably damaging
Transcript: ENSMUST00000020118
AA Change: F343L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020118
Gene: ENSMUSG00000019960
AA Change: F343L

DomainStartEndE-ValueType
RHOD 20 145 3.06e-13 SMART
low complexity region 151 187 N/A INTRINSIC
DSPc 206 346 5.51e-65 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217893
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220218
Predicted Effect probably benign
Transcript: ENSMUST00000220291
AA Change: F197L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
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 ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Mutations in this gene have been associated with congenital hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous or heterozygous for a null mutation display partial penetrance of postnatal lethality, reduced body weight, and abnormal growth plate morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,114,232 V1315A probably damaging Het
Adam2 A T 14: 66,069,190 C117S probably damaging Het
Arpp21 T A 9: 112,065,815 R792* probably null Het
Atp13a3 A G 16: 30,337,551 M938T probably damaging Het
Atp6v0a2 C T 5: 124,714,142 T545M possibly damaging Het
BC051019 T C 7: 109,716,352 D84G possibly damaging Het
Bdkrb1 T A 12: 105,604,832 L219H probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cfap46 T C 7: 139,607,201 D2415G probably damaging Het
Csgalnact2 T C 6: 118,124,415 probably null Het
Cyp4a29 T C 4: 115,251,200 C374R probably damaging Het
Dgkb C A 12: 38,630,629 P776Q possibly damaging Het
Duox1 A T 2: 122,336,415 K1005M probably damaging Het
Espl1 C T 15: 102,313,178 probably benign Het
Filip1l T C 16: 57,571,127 S455P probably benign Het
Gm7995 A G 14: 42,311,405 I81V probably damaging Het
Lingo4 T C 3: 94,402,097 L114P probably damaging Het
Mfsd6 A G 1: 52,708,675 S344P probably damaging Het
Mpc1 G A 17: 8,297,143 S162N probably benign Het
Myh11 T A 16: 14,212,618 K1143* probably null Het
Nek10 T C 14: 14,840,570 L152P probably damaging Het
Olfr598 C T 7: 103,329,400 R305* probably null Het
Olfr815 T C 10: 129,902,102 M203V probably benign Het
Olfr995 T A 2: 85,438,586 N191Y possibly damaging Het
Rab11a A G 9: 64,726,698 I119T probably damaging Het
Spata31d1d T A 13: 59,727,864 H619L possibly damaging Het
Ulk4 A T 9: 121,192,662 V661E possibly damaging Het
Vmn1r199 T C 13: 22,382,791 V85A possibly damaging Het
Other mutations in Dusp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02272:Dusp6 APN 10 99266019 missense probably damaging 1.00
IGL02996:Dusp6 APN 10 99264766 missense possibly damaging 0.52
IGL03024:Dusp6 APN 10 99266294 missense probably damaging 0.97
R1134:Dusp6 UTSW 10 99264954 missense probably damaging 0.98
R1695:Dusp6 UTSW 10 99263693 start codon destroyed probably null 0.99
R2078:Dusp6 UTSW 10 99263824 missense probably damaging 1.00
R2899:Dusp6 UTSW 10 99263845 missense probably damaging 1.00
R3162:Dusp6 UTSW 10 99264082 missense probably damaging 1.00
R3162:Dusp6 UTSW 10 99264082 missense probably damaging 1.00
R4413:Dusp6 UTSW 10 99263924 missense probably damaging 1.00
R4501:Dusp6 UTSW 10 99264595 missense probably benign 0.41
R5175:Dusp6 UTSW 10 99264002 missense possibly damaging 0.91
R5381:Dusp6 UTSW 10 99266267 missense possibly damaging 0.46
R5560:Dusp6 UTSW 10 99266241 missense probably damaging 0.97
R5820:Dusp6 UTSW 10 99264002 missense possibly damaging 0.91
R7359:Dusp6 UTSW 10 99264065 missense probably benign 0.01
R7398:Dusp6 UTSW 10 99264878 missense probably damaging 1.00
R8075:Dusp6 UTSW 10 99264948 missense possibly damaging 0.63
Posted On2015-04-16