Incidental Mutation 'IGL03177:Senp8'
ID412038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Senp8
Ensembl Gene ENSMUSG00000051705
Gene NameSUMO/sentrin specific peptidase 8
SynonymsPrsc2, Nedp1, Den1, 9130010J17Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.535) question?
Stock #IGL03177
Quality Score
Status
Chromosome9
Chromosomal Location59734259-59750710 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59737328 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 169 (C169R)
Ref Sequence ENSEMBL: ENSMUSP00000150601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051039] [ENSMUST00000163586] [ENSMUST00000177963] [ENSMUST00000213257] [ENSMUST00000216329] [ENSMUST00000217093]
Predicted Effect probably damaging
Transcript: ENSMUST00000051039
AA Change: C169R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054509
Gene: ENSMUSG00000051705
AA Change: C169R

DomainStartEndE-ValueType
Pfam:Peptidase_C48 25 213 8.3e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163586
AA Change: C169R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129441
Gene: ENSMUSG00000051705
AA Change: C169R

DomainStartEndE-ValueType
Pfam:Peptidase_C48 38 226 1.3e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177963
AA Change: C169R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137228
Gene: ENSMUSG00000051705
AA Change: C169R

DomainStartEndE-ValueType
Pfam:Peptidase_C48 25 213 8.3e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213257
AA Change: C169R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216045
Predicted Effect probably damaging
Transcript: ENSMUST00000216329
AA Change: C182R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217093
AA Change: C169R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cysteine protease that is a member of the sentrin-specific protease family. The encoded protein is involved in processing and deconjugation of the ubiquitin-like protein termed, neural precursor cell expressed developmentally downregulated 8. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg2 T C X: 160,438,263 I23T possibly damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Anxa7 T C 14: 20,456,586 I451V probably benign Het
Capn10 T C 1: 92,934,982 F37L probably benign Het
Cyp4f13 A G 17: 32,946,914 I30T possibly damaging Het
Ddx27 A G 2: 167,027,920 N392D possibly damaging Het
Dhx30 T C 9: 110,088,010 H479R possibly damaging Het
Dnah5 A G 15: 28,295,399 Y1426C probably damaging Het
Dnajc2 A G 5: 21,775,081 probably benign Het
Fbxw8 C A 5: 118,128,980 probably benign Het
Grik5 G A 7: 25,015,454 T705I probably damaging Het
H2-M3 G T 17: 37,270,316 V19F possibly damaging Het
Hapln2 C A 3: 88,022,771 C266F probably damaging Het
Hist1h2ab T A 13: 23,751,526 probably benign Het
Hspbp1 A T 7: 4,664,701 probably null Het
Jak3 T A 8: 71,682,370 V549D probably damaging Het
Mark1 A G 1: 184,944,907 S49P probably damaging Het
Mdfic T C 6: 15,770,451 V152A probably damaging Het
Mgat4a C A 1: 37,444,887 V501L probably damaging Het
Mlxip C A 5: 123,445,981 P536T possibly damaging Het
Mrpl2 A T 17: 46,649,037 T213S probably damaging Het
Nos1ap C A 1: 170,390,730 probably null Het
Olfr1247 C T 2: 89,609,482 V207I probably benign Het
Olfr786 T C 10: 129,436,815 M1T probably null Het
Olfr914 T A 9: 38,606,571 Y35* probably null Het
P2rx2 T C 5: 110,341,613 I251V probably damaging Het
Parva T A 7: 112,572,933 probably benign Het
Phf10 G A 17: 14,946,231 T459I probably damaging Het
Prg4 T A 1: 150,455,603 probably benign Het
Pum3 A T 19: 27,390,212 I639N probably benign Het
Rlf T A 4: 121,148,079 K1235* probably null Het
Ryr3 T A 2: 113,028,671 I46F probably benign Het
Sall3 A G 18: 80,972,968 S582P probably benign Het
Scn3b A C 9: 40,270,042 Y17S probably benign Het
Sgsm1 C T 5: 113,250,993 A1025T probably damaging Het
Six1 T C 12: 73,043,740 E217G possibly damaging Het
Slc38a8 T C 8: 119,485,512 D364G probably damaging Het
Stk10 A T 11: 32,614,592 E801V probably damaging Het
Ston2 A T 12: 91,647,657 I659N probably damaging Het
Stxbp4 T C 11: 90,571,753 Q331R probably benign Het
Synpo2 A T 3: 123,121,215 V54E probably damaging Het
Tax1bp1 A G 6: 52,736,947 D237G possibly damaging Het
Tmigd1 T C 11: 76,906,948 Y39H probably benign Het
Vmn1r15 A G 6: 57,258,473 T109A probably benign Het
Vmn1r209 T C 13: 22,805,854 Y222C possibly damaging Het
Zfp809 A G 9: 22,235,051 D12G probably damaging Het
Other mutations in Senp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4458001:Senp8 UTSW 9 59737480 missense probably damaging 1.00
R1865:Senp8 UTSW 9 59737552 missense probably damaging 0.96
R1984:Senp8 UTSW 9 59737438 missense possibly damaging 0.85
R4563:Senp8 UTSW 9 59750263 start codon destroyed probably null 0.00
R4970:Senp8 UTSW 9 59737221 missense probably benign
R6726:Senp8 UTSW 9 59737190 missense probably benign 0.05
R7253:Senp8 UTSW 9 59737195 missense probably benign
R7482:Senp8 UTSW 9 59737660 missense probably damaging 1.00
R7706:Senp8 UTSW 9 59737838 missense possibly damaging 0.92
R8284:Senp8 UTSW 9 59737531 missense
Posted On2016-08-02