Incidental Mutation 'R0009:Dusp8'
ID 150643
Institutional Source Beutler Lab
Gene Symbol Dusp8
Ensembl Gene ENSMUSG00000037887
Gene Name dual specificity phosphatase 8
Synonyms 5530400B01Rik, Nttp1
MMRRC Submission 038304-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R0009 (G1)
Quality Score 42
Status Validated
Chromosome 7
Chromosomal Location 142079490-142095843 bp(-) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 142082054 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039926] [ENSMUST00000143661]
AlphaFold O09112
Predicted Effect unknown
Transcript: ENSMUST00000039926
AA Change: S600G
SMART Domains Protein: ENSMUSP00000049414
Gene: ENSMUSG00000037887
AA Change: S600G

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

RHOD 13 135 4.71e-14 SMART
Pfam:DSPc 168 231 1.5e-9 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (68/68)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T G 15: 60,919,633 (GRCm38) probably benign Het
Abcg4 T G 9: 44,277,649 (GRCm38) probably benign Het
Afm C A 5: 90,545,384 (GRCm38) probably benign Het
Ahrr G A 13: 74,283,024 (GRCm38) probably benign Het
Aplnr T A 2: 85,137,276 (GRCm38) probably null Het
Arih2 T A 9: 108,611,727 (GRCm38) H264L probably damaging Het
Atp1a1 A T 3: 101,579,835 (GRCm38) I886N possibly damaging Het
Bmf A T 2: 118,549,622 (GRCm38) V14E probably damaging Het
Ccdc116 T C 16: 17,144,039 (GRCm38) E15G probably damaging Het
Ccdc175 T C 12: 72,135,965 (GRCm38) N427D possibly damaging Het
Cfap53 A G 18: 74,299,176 (GRCm38) H45R probably benign Het
Chd3 A G 11: 69,349,906 (GRCm38) L1569P probably damaging Het
Cntn2 G A 1: 132,516,180 (GRCm38) Q457* probably null Het
Coro1a A T 7: 126,701,413 (GRCm38) probably benign Het
Cracr2b T A 7: 141,463,759 (GRCm38) L91Q probably damaging Het
Ctdspl T C 9: 119,020,046 (GRCm38) probably null Het
Dip2b T A 15: 100,169,312 (GRCm38) L565Q probably damaging Het
Dip2c T A 13: 9,621,903 (GRCm38) C1004S probably damaging Het
Dnah11 A T 12: 118,045,522 (GRCm38) I2135N possibly damaging Het
Dnah14 A G 1: 181,769,407 (GRCm38) probably benign Het
Dnase1 T C 16: 4,038,946 (GRCm38) V147A probably damaging Het
Fer1l6 T C 15: 58,662,787 (GRCm38) Y1828H probably damaging Het
Flvcr1 A G 1: 191,008,191 (GRCm38) V544A probably benign Het
Fsd1l T C 4: 53,687,209 (GRCm38) V311A probably benign Het
Glud1 G A 14: 34,334,268 (GRCm38) G300S probably benign Het
Gm4847 C T 1: 166,630,486 (GRCm38) V433I probably benign Het
Gstm3 T G 3: 107,967,840 (GRCm38) Y62S probably damaging Het
Gtse1 C T 15: 85,862,435 (GRCm38) P151S probably benign Het
Herc2 T C 7: 56,207,812 (GRCm38) S4048P probably benign Het
Hp1bp3 T A 4: 138,221,683 (GRCm38) I19K probably benign Het
Htr7 C A 19: 36,041,540 (GRCm38) probably benign Het
Il1a C T 2: 129,309,074 (GRCm38) D10N probably damaging Het
Il22ra2 A T 10: 19,624,458 (GRCm38) N39I probably damaging Het
Kcnn4 T C 7: 24,379,255 (GRCm38) C267R possibly damaging Het
Larp1 A G 11: 58,055,473 (GRCm38) K879R possibly damaging Het
Lcn5 T A 2: 25,661,405 (GRCm38) probably benign Het
Lep T A 6: 29,068,972 (GRCm38) C7* probably null Het
Magi2 A T 5: 20,611,055 (GRCm38) Y747F probably benign Het
Mast4 T C 13: 102,742,058 (GRCm38) T1223A probably damaging Het
Mcc C T 18: 44,445,933 (GRCm38) E803K probably damaging Het
Mtmr4 T C 11: 87,611,508 (GRCm38) I796T probably benign Het
Myef2 A T 2: 125,108,978 (GRCm38) D312E probably benign Het
Myl3 A C 9: 110,767,929 (GRCm38) D119A probably damaging Het
Myo19 T A 11: 84,888,169 (GRCm38) probably null Het
Naa15 T G 3: 51,470,219 (GRCm38) H763Q probably damaging Het
Pde5a C T 3: 122,824,902 (GRCm38) probably benign Het
Plpp2 C T 10: 79,527,244 (GRCm38) R184H probably benign Het
Rab19 T G 6: 39,389,687 (GRCm38) L179V probably damaging Het
Rims2 T A 15: 39,534,966 (GRCm38) M1087K probably damaging Het
Riox2 C A 16: 59,489,367 (GRCm38) D361E probably benign Het
Sh3rf1 T A 8: 61,226,293 (GRCm38) V123E probably damaging Het
Slc35e1 A T 8: 72,484,709 (GRCm38) N318K probably damaging Het
Slc9a2 A T 1: 40,763,602 (GRCm38) E604V probably benign Het
Srp72 T C 5: 76,987,885 (GRCm38) S221P probably damaging Het
Tbx19 A T 1: 165,160,520 (GRCm38) S15T possibly damaging Het
Tcea2 A G 2: 181,685,817 (GRCm38) T112A probably benign Het
Tesk1 T A 4: 43,445,368 (GRCm38) D230E probably damaging Het
Tm4sf5 C T 11: 70,510,712 (GRCm38) A179V probably damaging Het
Tnr G T 1: 159,852,416 (GRCm38) G320V probably damaging Het
Trappc11 A T 8: 47,503,320 (GRCm38) C874S possibly damaging Het
Trpm3 T A 19: 22,914,446 (GRCm38) Y885N probably damaging Het
Unc5a T A 13: 55,002,879 (GRCm38) C505S probably damaging Het
Vmn1r28 G A 6: 58,265,717 (GRCm38) A182T probably benign Het
Xpo5 T C 17: 46,204,786 (GRCm38) probably benign Het
Zfp637 C A 6: 117,845,668 (GRCm38) H252Q probably damaging Het
Zfp646 T A 7: 127,880,731 (GRCm38) D693E probably damaging Het
Other mutations in Dusp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Dusp8 APN 7 142,084,423 (GRCm38) missense probably benign 0.05
IGL02458:Dusp8 APN 7 142,082,747 (GRCm38) missense probably benign 0.28
IGL02931:Dusp8 APN 7 142,082,930 (GRCm38) missense probably benign 0.00
IGL03329:Dusp8 APN 7 142,084,360 (GRCm38) nonsense probably null
R1054:Dusp8 UTSW 7 142,082,067 (GRCm38) unclassified probably benign
R1611:Dusp8 UTSW 7 142,082,957 (GRCm38) missense probably benign 0.04
R1883:Dusp8 UTSW 7 142,084,348 (GRCm38) splice site probably null
R2119:Dusp8 UTSW 7 142,082,561 (GRCm38) missense possibly damaging 0.91
R2326:Dusp8 UTSW 7 142,090,063 (GRCm38) missense probably damaging 1.00
R2698:Dusp8 UTSW 7 142,081,964 (GRCm38) unclassified probably benign
R2905:Dusp8 UTSW 7 142,083,389 (GRCm38) nonsense probably null
R3849:Dusp8 UTSW 7 142,090,065 (GRCm38) missense probably damaging 1.00
R4921:Dusp8 UTSW 7 142,082,154 (GRCm38) unclassified probably benign
R4942:Dusp8 UTSW 7 142,082,228 (GRCm38) missense possibly damaging 0.85
R5288:Dusp8 UTSW 7 142,089,993 (GRCm38) missense possibly damaging 0.95
R5385:Dusp8 UTSW 7 142,089,993 (GRCm38) missense possibly damaging 0.95
R5386:Dusp8 UTSW 7 142,089,993 (GRCm38) missense possibly damaging 0.95
R6301:Dusp8 UTSW 7 142,083,019 (GRCm38) splice site probably null
R6520:Dusp8 UTSW 7 142,083,681 (GRCm38) missense probably damaging 0.99
R6665:Dusp8 UTSW 7 142,090,105 (GRCm38) missense probably damaging 0.97
R9130:Dusp8 UTSW 7 142,088,418 (GRCm38) missense probably benign 0.12
RF016:Dusp8 UTSW 7 142,082,852 (GRCm38) missense probably benign 0.04
X0064:Dusp8 UTSW 7 142,082,027 (GRCm38) unclassified probably benign
Z1176:Dusp8 UTSW 7 142,090,077 (GRCm38) missense probably damaging 1.00
Z1176:Dusp8 UTSW 7 142,081,943 (GRCm38) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-01-27