Incidental Mutation 'IGL02458:Dusp8'
ID294530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dusp8
Ensembl Gene ENSMUSG00000037887
Gene Namedual specificity phosphatase 8
Synonyms5530400B01Rik, Nttp1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.120) question?
Stock #IGL02458
Quality Score
Status
Chromosome7
Chromosomal Location142079490-142095843 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 142082747 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 369 (T369S)
Ref Sequence ENSEMBL: ENSMUSP00000049414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039926] [ENSMUST00000143661]
Predicted Effect probably benign
Transcript: ENSMUST00000039926
AA Change: T369S

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000049414
Gene: ENSMUSG00000037887
AA Change: T369S

DomainStartEndE-ValueType
RHOD 13 135 4.71e-14 SMART
DSPc 160 299 3.6e-69 SMART
low complexity region 334 353 N/A INTRINSIC
low complexity region 360 371 N/A INTRINSIC
low complexity region 405 422 N/A INTRINSIC
low complexity region 427 449 N/A INTRINSIC
low complexity region 452 470 N/A INTRINSIC
low complexity region 488 512 N/A INTRINSIC
low complexity region 546 600 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104221
Predicted Effect probably benign
Transcript: ENSMUST00000143661
SMART Domains Protein: ENSMUSP00000114307
Gene: ENSMUSG00000037887

DomainStartEndE-ValueType
RHOD 13 135 4.71e-14 SMART
Pfam:DSPc 168 231 1.5e-9 PFAM
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 inactivates SAPK/JNK and p38, is expressed predominantly in the adult brain, heart, and skeletal muscle, is localized in the cytoplasm, and is induced by nerve growth factor and insulin. An intronless pseudogene for DUSP8 is present on chromosome 10q11.2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered myocardial fiber morphology, mildly increased cardiac muscle contractility at baseline, and decreased response of heart to induced stress. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A T 8: 40,753,807 I37L probably benign Het
Alpk1 A G 3: 127,681,319 probably null Het
Ankrd33 T C 15: 101,116,607 F8L probably damaging Het
Avil A G 10: 127,016,353 K669R probably benign Het
Bcor G T X: 12,048,510 L1165I probably damaging Het
C7 A G 15: 5,059,389 probably benign Het
Cc2d2a A G 5: 43,718,554 I958V probably benign Het
Cenpe A T 3: 135,230,108 K435* probably null Het
Chrna7 G A 7: 63,106,094 L235F probably damaging Het
Col6a3 C A 1: 90,779,197 V2065L unknown Het
Copb1 A T 7: 114,246,785 N183K probably benign Het
Cpn2 G A 16: 30,260,835 A16V probably benign Het
Cul1 A G 6: 47,525,608 K769E possibly damaging Het
Ddx58 A G 4: 40,229,536 S83P probably damaging Het
Deup1 C T 9: 15,592,360 V302M probably benign Het
Dnah17 T C 11: 118,036,350 K3871E probably damaging Het
Dnah6 A G 6: 73,027,448 V3844A probably benign Het
Dnah7a A T 1: 53,618,328 L763* probably null Het
Donson A T 16: 91,681,176 W461R probably damaging Het
Dpp10 T C 1: 123,341,689 I664V probably benign Het
Dync2h1 A T 9: 7,117,422 L56Q probably damaging Het
Ecd A T 14: 20,324,477 S532T probably benign Het
Frg2f1 G A 4: 119,530,957 T115I probably damaging Het
Gpatch2l A G 12: 86,288,961 probably benign Het
Gtf3c2 T A 5: 31,159,523 probably null Het
Haghl T C 17: 25,783,496 probably benign Het
Hoxc8 A T 15: 102,992,749 N208I probably damaging Het
Igf2 T C 7: 142,654,048 D115G probably benign Het
Jag2 T A 12: 112,915,993 D385V probably damaging Het
Laptm4b A G 15: 34,258,742 H54R probably benign Het
Lrp2 A G 2: 69,521,773 S640P probably damaging Het
Map3k8 A C 18: 4,334,660 V328G probably damaging Het
Mfsd13a A G 19: 46,372,247 E388G probably damaging Het
Ms4a13 G A 19: 11,171,928 T168I probably benign Het
Mtg1 C A 7: 140,150,172 Q294K probably benign Het
Myh3 C T 11: 67,096,940 A1413V possibly damaging Het
Neo1 A T 9: 58,893,867 probably benign Het
Ogfod3 T C 11: 121,200,923 E119G probably benign Het
Olfr1250 A G 2: 89,657,348 L31P probably damaging Het
Olfr1331 A G 4: 118,869,300 N173S possibly damaging Het
Olfr331 A T 11: 58,502,247 M109K probably benign Het
Olfr800 A T 10: 129,660,606 I267F probably benign Het
Olfr988 G A 2: 85,353,662 T88I probably benign Het
Parvb G T 15: 84,303,434 D248Y probably damaging Het
Pcdh11x A T X: 120,400,618 H586L possibly damaging Het
Phactr2 T C 10: 13,261,828 E120G probably damaging Het
Ppfibp2 A T 7: 107,742,964 Q775L probably damaging Het
Rcbtb1 A G 14: 59,229,994 Y427C probably damaging Het
Rftn2 A T 1: 55,211,192 C131* probably null Het
Rps6ka2 A G 17: 7,289,003 D474G probably benign Het
Rsbn1l T C 5: 20,951,736 E17G probably damaging Het
Ryr2 T C 13: 11,705,699 M2688V probably benign Het
Slc22a18 C A 7: 143,492,837 probably benign Het
Smarcc1 A G 9: 110,132,126 probably benign Het
Soat2 T C 15: 102,162,115 V451A probably damaging Het
Sptlc2 A T 12: 87,309,893 probably benign Het
Tada1 C T 1: 166,392,634 L308F probably damaging Het
Tango2 A T 16: 18,310,867 probably null Het
Tbc1d15 A T 10: 115,229,206 V158D probably damaging Het
Tcrg-V3 A G 13: 19,243,253 Y102C probably damaging Het
Tmx2 A T 2: 84,673,244 probably benign Het
Tpte T A 8: 22,305,858 I79K probably benign Het
Trav6-1 A G 14: 52,638,742 I40V probably benign Het
Ubash3a T C 17: 31,231,481 S377P possibly damaging Het
Vmn2r7 T C 3: 64,693,025 D575G probably damaging Het
Vps41 A G 13: 18,853,479 D704G possibly damaging Het
Vwa5a T C 9: 38,726,963 S261P possibly damaging Het
Zc3hav1 A G 6: 38,340,329 V112A probably damaging Het
Other mutations in Dusp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Dusp8 APN 7 142084423 missense probably benign 0.05
IGL02931:Dusp8 APN 7 142082930 missense probably benign 0.00
IGL03329:Dusp8 APN 7 142084360 nonsense probably null
R0009:Dusp8 UTSW 7 142082054 unclassified probably benign
R1054:Dusp8 UTSW 7 142082067 unclassified probably benign
R1611:Dusp8 UTSW 7 142082957 missense probably benign 0.04
R1883:Dusp8 UTSW 7 142084348 splice site probably null
R2119:Dusp8 UTSW 7 142082561 missense possibly damaging 0.91
R2326:Dusp8 UTSW 7 142090063 missense probably damaging 1.00
R2698:Dusp8 UTSW 7 142081964 unclassified probably benign
R2905:Dusp8 UTSW 7 142083389 nonsense probably null
R3849:Dusp8 UTSW 7 142090065 missense probably damaging 1.00
R4921:Dusp8 UTSW 7 142082154 unclassified probably benign
R4942:Dusp8 UTSW 7 142082228 missense possibly damaging 0.85
R5288:Dusp8 UTSW 7 142089993 missense possibly damaging 0.95
R5385:Dusp8 UTSW 7 142089993 missense possibly damaging 0.95
R5386:Dusp8 UTSW 7 142089993 missense possibly damaging 0.95
R6301:Dusp8 UTSW 7 142083019 unclassified probably null
R6520:Dusp8 UTSW 7 142083681 missense probably damaging 0.99
R6665:Dusp8 UTSW 7 142090105 missense probably damaging 0.97
RF016:Dusp8 UTSW 7 142082852 missense probably benign 0.04
X0064:Dusp8 UTSW 7 142082027 unclassified probably benign
Posted On2015-04-16