Incidental Mutation 'R6726:Senp8'
ID529870
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? Probably non essential (E-score: 0.239) question?
Stock #R6726 (G1)
Quality Score225.009
Status Validated
Chromosome9
Chromosomal Location59734259-59750710 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 59737190 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 228 (V228L)
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
AA Change: V215L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000054509
Gene: ENSMUSG00000051705
AA Change: V215L

DomainStartEndE-ValueType
Pfam:Peptidase_C48 25 213 8.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163586
AA Change: V215L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000129441
Gene: ENSMUSG00000051705
AA Change: V215L

DomainStartEndE-ValueType
Pfam:Peptidase_C48 38 226 1.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177963
AA Change: V215L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000137228
Gene: ENSMUSG00000051705
AA Change: V215L

DomainStartEndE-ValueType
Pfam:Peptidase_C48 25 213 8.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213257
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216045
Predicted Effect probably benign
Transcript: ENSMUST00000216329
AA Change: V228L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000217093
AA Change: V215L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency 100% (41/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930017K11Rik G C 17: 25,947,715 P283A probably benign Het
Acot11 C T 4: 106,760,130 G240R probably damaging Het
Arfgef2 T A 2: 166,893,620 probably null Het
Arsk T C 13: 76,074,788 Y230C probably damaging Het
Atf7ip G A 6: 136,582,391 V737M probably damaging Het
Atp6v1e1 A T 6: 120,804,050 probably null Het
Bbs9 T C 9: 22,645,964 V3A probably benign Het
Brap T C 5: 121,675,302 S243P probably damaging Het
Camkmt T A 17: 85,394,609 I167N probably damaging Het
Ckap2l C A 2: 129,269,194 E694D probably damaging Het
Crmp1 G A 5: 37,284,064 V497I probably benign Het
Dbx2 A G 15: 95,624,860 V322A possibly damaging Het
Dll1 C A 17: 15,370,251 C401F probably damaging Het
Dock10 T C 1: 80,512,430 T1991A probably damaging Het
Dock3 C T 9: 107,159,452 W42* probably null Het
Epha6 C A 16: 60,424,835 A334S possibly damaging Het
Gm10093 A G 17: 78,492,858 E426G probably damaging Het
Gm5737 T C 7: 120,826,109 S308P probably damaging Het
Insrr C T 3: 87,813,566 R1044C probably damaging Het
Irs2 T C 8: 11,004,961 N1157S possibly damaging Het
Kndc1 T C 7: 139,922,751 probably null Het
Map3k19 T C 1: 127,820,448 N1241S probably benign Het
Olfr1015 T C 2: 85,785,562 F17S possibly damaging Het
Paqr5 C T 9: 61,963,783 R171Q probably damaging Het
Pcdh17 T A 14: 84,446,217 D41E probably damaging Het
Plg T G 17: 12,378,708 L14R probably damaging Het
Prkab1 A G 5: 116,020,033 V168A probably benign Het
Ptdss1 C T 13: 66,953,531 R95* probably null Het
Rab3gap2 T G 1: 185,247,865 S327A probably damaging Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Rsf1 G A 7: 97,579,910 probably benign Homo
Serpina10 A T 12: 103,628,369 I197K probably benign Het
Serpinb6d A G 13: 33,670,735 N231S probably benign Het
Sez6l2 T C 7: 126,968,005 V869A probably damaging Het
Sgo2b T A 8: 63,927,735 K688* probably null Het
Sh3kbp1 A T X: 159,841,180 E39D probably benign Homo
Ufsp2 T C 8: 45,985,467 M194T probably benign Het
Ush2a T C 1: 188,753,684 I2997T possibly damaging Het
Vmn2r107 G A 17: 20,375,375 G730D probably damaging Het
Wdr72 T C 9: 74,152,540 Y411H possibly damaging Het
Xirp2 T C 2: 67,512,868 S1818P 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
R7253:Senp8 UTSW 9 59737195 missense probably benign
Predicted Primers PCR Primer
(F):5'- AGAATGTACCGCTTTCCTCAGG -3'
(R):5'- TCTTTGTGGAAGAGAAAGCCC -3'

Sequencing Primer
(F):5'- CGCTTTCCTCAGGATTACAGTGAAAC -3'
(R):5'- CCAGCTCAAGAGAACAGCTATG -3'
Posted On2018-08-01