Incidental Mutation 'IGL02931:Dusp8'
ID 364108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dusp8
Ensembl Gene ENSMUSG00000037887
Gene Name dual specificity phosphatase 8
Synonyms Nttp1, 5530400B01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # IGL02931
Quality Score
Status
Chromosome 7
Chromosomal Location 141633227-141649580 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 141636667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 308 (T308A)
Ref Sequence ENSEMBL: ENSMUSP00000049414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039926] [ENSMUST00000143661]
AlphaFold O09112
Predicted Effect probably benign
Transcript: ENSMUST00000039926
AA Change: T308A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000049414
Gene: ENSMUSG00000037887
AA Change: T308A

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 G A 11: 7,029,012 (GRCm39) R254Q probably benign Het
Adgrv1 T C 13: 81,727,833 (GRCm39) Y269C probably damaging Het
Apol7a C A 15: 77,277,650 (GRCm39) E33* probably null Het
Arhgap29 T C 3: 121,786,509 (GRCm39) V358A probably benign Het
B3galt1 T C 2: 67,948,728 (GRCm39) S148P probably damaging Het
BC061237 A G 14: 44,740,779 (GRCm39) N60D possibly damaging Het
Bcl9l C T 9: 44,412,047 (GRCm39) P11L probably damaging Het
Ccdc89 A C 7: 90,076,110 (GRCm39) K107Q probably benign Het
Col27a1 T C 4: 63,249,663 (GRCm39) probably benign Het
Col5a2 T C 1: 45,424,225 (GRCm39) D1067G probably damaging Het
Col9a2 A T 4: 120,910,389 (GRCm39) R511S probably benign Het
Disp3 G A 4: 148,333,658 (GRCm39) S1060F possibly damaging Het
Ern1 T C 11: 106,314,266 (GRCm39) N178S probably damaging Het
Gas6 C A 8: 13,527,136 (GRCm39) C204F probably damaging Het
Gga1 T C 15: 78,777,522 (GRCm39) S558P possibly damaging Het
Gli1 T C 10: 127,168,279 (GRCm39) T525A probably benign Het
Gse1 A G 8: 121,304,808 (GRCm39) probably benign Het
Hmcn1 G A 1: 150,532,958 (GRCm39) S3075L probably benign Het
Hnf4a G A 2: 163,408,037 (GRCm39) probably benign Het
Htt A T 5: 35,034,097 (GRCm39) E1894D probably damaging Het
Kcnh8 G A 17: 53,263,650 (GRCm39) E716K probably benign Het
Kntc1 A G 5: 123,937,874 (GRCm39) Y1524C probably damaging Het
Krtap9-5 A G 11: 99,839,931 (GRCm39) T211A unknown Het
Lin54 T C 5: 100,628,180 (GRCm39) I8V possibly damaging Het
Lipe A G 7: 25,082,760 (GRCm39) probably benign Het
Lpin2 T A 17: 71,545,678 (GRCm39) V508E probably damaging Het
Lrrc9 C A 12: 72,500,923 (GRCm39) H216Q probably damaging Het
Lrrn1 T C 6: 107,544,709 (GRCm39) L169P probably damaging Het
Map9 C A 3: 82,284,428 (GRCm39) T334K possibly damaging Het
Msantd5f1 G A 4: 73,605,602 (GRCm39) A338T probably damaging Het
Mst1 A T 9: 107,961,841 (GRCm39) probably null Het
Mtor T A 4: 148,549,421 (GRCm39) F602I probably benign Het
Mylpf T A 7: 126,812,798 (GRCm39) D98E probably benign Het
Naca C A 10: 127,883,551 (GRCm39) Q2059K probably damaging Het
Nefh G A 11: 4,891,356 (GRCm39) T421I possibly damaging Het
Nlrp4g T A 9: 124,348,940 (GRCm38) noncoding transcript Het
Npat C T 9: 53,482,341 (GRCm39) Q1350* probably null Het
Oaz3 T C 3: 94,342,287 (GRCm39) N123S probably benign Het
Patj A G 4: 98,299,410 (GRCm39) probably benign Het
Pgap6 T A 17: 26,336,923 (GRCm39) F280L probably benign Het
Piezo1 A C 8: 123,210,258 (GRCm39) D2224E probably damaging Het
Pnpla7 A T 2: 24,905,241 (GRCm39) I610F possibly damaging Het
Psapl1 A T 5: 36,362,233 (GRCm39) D275V probably damaging Het
Ptpdc1 T A 13: 48,744,095 (GRCm39) probably benign Het
Rac2 T C 15: 78,454,947 (GRCm39) E31G possibly damaging Het
Sdhc T C 1: 170,971,124 (GRCm39) probably benign Het
Smim23 G T 11: 32,770,667 (GRCm39) P80T probably damaging Het
Snupn C T 9: 56,864,364 (GRCm39) T21I probably benign Het
Tjp2 A G 19: 24,073,996 (GRCm39) V1097A probably benign Het
Ttc16 A G 2: 32,661,939 (GRCm39) Y164H probably damaging Het
Txlnb A G 10: 17,703,730 (GRCm39) E296G probably damaging Het
Ube2l6 G A 2: 84,633,195 (GRCm39) V34M probably damaging Het
Vwf A C 6: 125,592,931 (GRCm39) S764R possibly damaging Het
Zfand3 A G 17: 30,411,611 (GRCm39) S146G probably benign Het
Zfp280d T G 9: 72,203,307 (GRCm39) F18L probably benign Het
Other mutations in Dusp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Dusp8 APN 7 141,638,160 (GRCm39) missense probably benign 0.05
IGL02458:Dusp8 APN 7 141,636,484 (GRCm39) missense probably benign 0.28
IGL03329:Dusp8 APN 7 141,638,097 (GRCm39) nonsense probably null
R0009:Dusp8 UTSW 7 141,635,791 (GRCm39) unclassified probably benign
R1054:Dusp8 UTSW 7 141,635,804 (GRCm39) unclassified probably benign
R1611:Dusp8 UTSW 7 141,636,694 (GRCm39) missense probably benign 0.04
R1883:Dusp8 UTSW 7 141,638,085 (GRCm39) splice site probably null
R2119:Dusp8 UTSW 7 141,636,298 (GRCm39) missense possibly damaging 0.91
R2326:Dusp8 UTSW 7 141,643,800 (GRCm39) missense probably damaging 1.00
R2698:Dusp8 UTSW 7 141,635,701 (GRCm39) unclassified probably benign
R2905:Dusp8 UTSW 7 141,637,126 (GRCm39) nonsense probably null
R3849:Dusp8 UTSW 7 141,643,802 (GRCm39) missense probably damaging 1.00
R4921:Dusp8 UTSW 7 141,635,891 (GRCm39) unclassified probably benign
R4942:Dusp8 UTSW 7 141,635,965 (GRCm39) missense possibly damaging 0.85
R5288:Dusp8 UTSW 7 141,643,730 (GRCm39) missense possibly damaging 0.95
R5385:Dusp8 UTSW 7 141,643,730 (GRCm39) missense possibly damaging 0.95
R5386:Dusp8 UTSW 7 141,643,730 (GRCm39) missense possibly damaging 0.95
R6301:Dusp8 UTSW 7 141,636,756 (GRCm39) splice site probably null
R6520:Dusp8 UTSW 7 141,637,418 (GRCm39) missense probably damaging 0.99
R6665:Dusp8 UTSW 7 141,643,842 (GRCm39) missense probably damaging 0.97
R9130:Dusp8 UTSW 7 141,642,155 (GRCm39) missense probably benign 0.12
RF016:Dusp8 UTSW 7 141,636,589 (GRCm39) missense probably benign 0.04
X0064:Dusp8 UTSW 7 141,635,764 (GRCm39) unclassified probably benign
Z1176:Dusp8 UTSW 7 141,643,814 (GRCm39) missense probably damaging 1.00
Z1176:Dusp8 UTSW 7 141,635,680 (GRCm39) missense unknown
Posted On 2015-12-18