Incidental Mutation 'R7706:Senp8'
Institutional Source Beutler Lab
Gene Symbol Senp8
Ensembl Gene ENSMUSG00000051705
Gene NameSUMO/sentrin specific peptidase 8
SynonymsPrsc2, Nedp1, Den1, 9130010J17Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.659) question?
Stock #R7706 (G1)
Quality Score225.009
Status Validated
Chromosomal Location59734259-59750710 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59737838 bp
Amino Acid Change Tyrosine to Histidine at position 12 (Y12H)
Ref Sequence ENSEMBL: ENSMUSP00000149463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051039] [ENSMUST00000163586] [ENSMUST00000177963] [ENSMUST00000213257] [ENSMUST00000216329] [ENSMUST00000217093]
Predicted Effect probably benign
Transcript: ENSMUST00000051039
SMART Domains Protein: ENSMUSP00000054509
Gene: ENSMUSG00000051705

Pfam:Peptidase_C48 25 213 8.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163586
SMART Domains Protein: ENSMUSP00000129441
Gene: ENSMUSG00000051705

Pfam:Peptidase_C48 38 226 1.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177963
SMART Domains Protein: ENSMUSP00000137228
Gene: ENSMUSG00000051705

Pfam:Peptidase_C48 25 213 8.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213257
Predicted Effect possibly damaging
Transcript: ENSMUST00000216329
AA Change: Y12H

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000217093
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (52/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C23Rik G A 17: 45,733,657 T46I unknown Het
Arhgef1 G A 7: 24,916,881 D317N probably damaging Het
Atxn7l2 T C 3: 108,207,403 D109G probably damaging Het
B4galnt3 C A 6: 120,218,952 V305L probably benign Het
C9 T A 15: 6,458,921 N85K probably benign Het
Cacna1g T C 11: 94,415,041 I1941V probably benign Het
Capn15 A G 17: 25,964,151 V518A probably benign Het
Chst10 A T 1: 38,866,025 Y200N probably damaging Het
Cir1 A G 2: 73,312,479 S4P probably damaging Het
Cish G A 9: 107,300,641 R172Q probably benign Het
Cnot10 A T 9: 114,593,438 N693K probably damaging Het
Ddx6 A G 9: 44,627,642 D249G probably damaging Het
Dennd6b T C 15: 89,185,244 D528G probably benign Het
Dmtf1 T A 5: 9,124,489 T484S possibly damaging Het
Dnaaf5 T C 5: 139,152,841 V259A probably damaging Het
Dzip1l A T 9: 99,637,536 S39C probably damaging Het
Efcab8 T A 2: 153,781,775 M60K Het
Eml2 T A 7: 19,186,110 V113D possibly damaging Het
Fnip1 A T 11: 54,515,499 I1141F probably benign Het
Gm7298 T A 6: 121,735,611 S127R probably damaging Het
Hcn2 G A 10: 79,734,183 R622Q possibly damaging Het
Ift172 C T 5: 31,266,379 W746* probably null Het
Irs1 A G 1: 82,287,691 Y935H probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,436,913 probably benign Het
Klhl20 T C 1: 161,109,257 I183V probably benign Het
Lalba T C 15: 98,481,593 D103G probably damaging Het
Lpin3 T C 2: 160,905,290 L822P probably damaging Het
Lrrc38 G A 4: 143,350,275 C36Y probably damaging Het
Ly6e T C 15: 74,958,334 S46P possibly damaging Het
Narfl T C 17: 25,782,252 *493Q probably null Het
Nav2 T C 7: 49,594,319 I2098T probably benign Het
Nipbl T C 15: 8,351,526 E594G probably benign Het
Olfr552 T A 7: 102,604,646 H97Q probably benign Het
Parn T C 16: 13,607,253 D432G probably damaging Het
Pcdh20 A G 14: 88,467,357 S836P probably damaging Het
Pcmtd2 C T 2: 181,855,075 R282C probably damaging Het
Ppp2r3c A G 12: 55,281,705 I425T probably benign Het
Samm50 T A 15: 84,200,880 probably null Het
Sars C T 3: 108,431,464 probably null Het
Slc13a4 T C 6: 35,270,355 I577V possibly damaging Het
Srr T G 11: 74,913,135 probably null Het
Steap2 T A 5: 5,682,967 N19I possibly damaging Het
Sucla2 A G 14: 73,568,993 Y168C probably damaging Het
Tha1 T C 11: 117,869,455 Q275R probably damaging Het
Trim56 T C 5: 137,114,656 N2S probably benign Het
Tubgcp6 T A 15: 89,104,223 H849L probably benign Het
Uevld A G 7: 46,948,027 I72T possibly damaging Het
Ybx1 A G 4: 119,278,967 *323Q probably null Het
Zfp354b C T 11: 50,928,563 probably null Het
Zfp36l2 A T 17: 84,186,918 L97Q probably benign Het
Zfp729a T A 13: 67,623,493 R78S possibly damaging Het
Other mutations in Senp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03177:Senp8 APN 9 59737328 missense probably damaging 1.00
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
R8284:Senp8 UTSW 9 59737531 missense
R8695:Senp8 UTSW 9 59737216 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2019-11-12