Incidental Mutation 'R7706:Senp8'
ID 594283
Institutional Source Beutler Lab
Gene Symbol Senp8
Ensembl Gene ENSMUSG00000051705
Gene Name SUMO peptidase family member, NEDD8 specific
Synonyms Nedp1, Den1, 9130010J17Rik, Prsc2
MMRRC Submission 045767-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.552) question?
Stock # R7706 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 59641542-59657932 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59645121 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9D2Z4
Predicted Effect probably benign
Transcript: ENSMUST00000051039
SMART Domains Protein: ENSMUSP00000054509
Gene: ENSMUSG00000051705

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

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

DomainStartEndE-ValueType
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: 46,044,583 (GRCm39) T46I unknown Het
Arhgef1 G A 7: 24,616,306 (GRCm39) D317N probably damaging Het
Atxn7l2 T C 3: 108,114,719 (GRCm39) D109G probably damaging Het
B4galnt3 C A 6: 120,195,913 (GRCm39) V305L probably benign Het
C9 T A 15: 6,488,402 (GRCm39) N85K probably benign Het
Cacna1g T C 11: 94,305,867 (GRCm39) I1941V probably benign Het
Capn15 A G 17: 26,183,125 (GRCm39) V518A probably benign Het
Chst10 A T 1: 38,905,106 (GRCm39) Y200N probably damaging Het
Ciao3 T C 17: 26,001,226 (GRCm39) *493Q probably null Het
Cir1 A G 2: 73,142,823 (GRCm39) S4P probably damaging Het
Cish G A 9: 107,177,840 (GRCm39) R172Q probably benign Het
Cnot10 A T 9: 114,422,506 (GRCm39) N693K probably damaging Het
Ddx6 A G 9: 44,538,939 (GRCm39) D249G probably damaging Het
Dennd6b T C 15: 89,069,447 (GRCm39) D528G probably benign Het
Dmtf1 T A 5: 9,174,489 (GRCm39) T484S possibly damaging Het
Dnaaf5 T C 5: 139,138,596 (GRCm39) V259A probably damaging Het
Dzip1l A T 9: 99,519,589 (GRCm39) S39C probably damaging Het
Efcab8 T A 2: 153,623,695 (GRCm39) M60K Het
Eml2 T A 7: 18,920,035 (GRCm39) V113D possibly damaging Het
Fnip1 A T 11: 54,406,325 (GRCm39) I1141F probably benign Het
Gm7298 T A 6: 121,712,570 (GRCm39) S127R probably damaging Het
Hcn2 G A 10: 79,570,017 (GRCm39) R622Q possibly damaging Het
Ift172 C T 5: 31,423,723 (GRCm39) W746* probably null Het
Irs1 A G 1: 82,265,412 (GRCm39) Y935H probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Klhl20 T C 1: 160,936,827 (GRCm39) I183V probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lalba T C 15: 98,379,474 (GRCm39) D103G probably damaging Het
Lpin3 T C 2: 160,747,210 (GRCm39) L822P probably damaging Het
Lrrc38 G A 4: 143,076,845 (GRCm39) C36Y probably damaging Het
Ly6e T C 15: 74,830,183 (GRCm39) S46P possibly damaging Het
Nav2 T C 7: 49,244,067 (GRCm39) I2098T probably benign Het
Nipbl T C 15: 8,381,010 (GRCm39) E594G probably benign Het
Or52k2 T A 7: 102,253,853 (GRCm39) H97Q probably benign Het
Parn T C 16: 13,425,117 (GRCm39) D432G probably damaging Het
Pcdh20 A G 14: 88,704,793 (GRCm39) S836P probably damaging Het
Pcmtd2 C T 2: 181,496,868 (GRCm39) R282C probably damaging Het
Ppp2r3c A G 12: 55,328,490 (GRCm39) I425T probably benign Het
Samm50 T A 15: 84,085,081 (GRCm39) probably null Het
Sars1 C T 3: 108,338,780 (GRCm39) probably null Het
Slc13a4 T C 6: 35,247,290 (GRCm39) I577V possibly damaging Het
Srr T G 11: 74,803,961 (GRCm39) probably null Het
Steap2 T A 5: 5,732,967 (GRCm39) N19I possibly damaging Het
Sucla2 A G 14: 73,806,433 (GRCm39) Y168C probably damaging Het
Tha1 T C 11: 117,760,281 (GRCm39) Q275R probably damaging Het
Trim56 T C 5: 137,143,510 (GRCm39) N2S probably benign Het
Tubgcp6 T A 15: 88,988,426 (GRCm39) H849L probably benign Het
Uevld A G 7: 46,597,775 (GRCm39) I72T possibly damaging Het
Ybx1 A G 4: 119,136,164 (GRCm39) *323Q probably null Het
Zfp354b C T 11: 50,819,390 (GRCm39) probably null Het
Zfp36l2 A T 17: 84,494,346 (GRCm39) L97Q probably benign Het
Zfp729a T A 13: 67,771,612 (GRCm39) R78S possibly damaging Het
Other mutations in Senp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03177:Senp8 APN 9 59,644,611 (GRCm39) missense probably damaging 1.00
PIT4458001:Senp8 UTSW 9 59,644,763 (GRCm39) missense probably damaging 1.00
R1865:Senp8 UTSW 9 59,644,835 (GRCm39) missense probably damaging 0.96
R1984:Senp8 UTSW 9 59,644,721 (GRCm39) missense possibly damaging 0.85
R4563:Senp8 UTSW 9 59,657,546 (GRCm39) start codon destroyed probably null 0.00
R4970:Senp8 UTSW 9 59,644,504 (GRCm39) missense probably benign
R6726:Senp8 UTSW 9 59,644,473 (GRCm39) missense probably benign 0.05
R7253:Senp8 UTSW 9 59,644,478 (GRCm39) missense probably benign
R7482:Senp8 UTSW 9 59,644,943 (GRCm39) missense probably damaging 1.00
R8284:Senp8 UTSW 9 59,644,814 (GRCm39) missense
R8695:Senp8 UTSW 9 59,644,499 (GRCm39) missense probably damaging 1.00
R9350:Senp8 UTSW 9 59,645,105 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GGTTCAAGGAACATGGCAATTT -3'
(R):5'- ATGATGTTAGCACTGGTGGAA -3'

Sequencing Primer
(F):5'- CTGCTGGTGCACTTAATGAAC -3'
(R):5'- ATGTTAGCACTGGTGGAAATTATTG -3'
Posted On 2019-11-12