Incidental Mutation 'R9350:Senp8'
ID 708024
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.552) question?
Stock # R9350 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 59641542-59657932 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59645105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 17 (V17A)
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
AA Change: V4A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000054509
Gene: ENSMUSG00000051705
AA Change: V4A

DomainStartEndE-ValueType
Pfam:Peptidase_C48 25 213 8.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163586
AA Change: V4A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000129441
Gene: ENSMUSG00000051705
AA Change: V4A

DomainStartEndE-ValueType
Pfam:Peptidase_C48 38 226 1.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177963
AA Change: V4A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000137228
Gene: ENSMUSG00000051705
AA Change: V4A

DomainStartEndE-ValueType
Pfam:Peptidase_C48 25 213 8.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213257
AA Change: V4A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000216329
AA Change: V17A

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000217093
AA Change: V4A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.7%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T A 8: 44,022,669 (GRCm39) M274L probably benign Het
Adarb1 T A 10: 77,158,267 (GRCm39) N60I possibly damaging Het
Adgrv1 T A 13: 81,654,274 (GRCm39) N2919I probably damaging Het
Adora3 C T 3: 105,814,613 (GRCm39) T121M possibly damaging Het
Aoc1l3 A T 6: 48,965,260 (GRCm39) N423Y probably damaging Het
Arhgap19 A T 19: 41,761,566 (GRCm39) F466Y probably benign Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Atxn7l1 C T 12: 33,417,315 (GRCm39) T492I probably benign Het
B3galnt2 T C 13: 14,170,393 (GRCm39) S248P probably damaging Het
Casp2 T C 6: 42,246,332 (GRCm39) V230A probably benign Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
Ctnnbl1 G A 2: 157,651,445 (GRCm39) G240E possibly damaging Het
Dennd2c T C 3: 103,039,308 (GRCm39) L152P possibly damaging Het
Dhx16 T A 17: 36,200,203 (GRCm39) F874Y probably damaging Het
Dnah14 A T 1: 181,562,369 (GRCm39) Y2643F possibly damaging Het
Dnah2 C A 11: 69,384,073 (GRCm39) V1048L probably benign Het
Dnah7a T C 1: 53,436,307 (GRCm39) I4012V probably benign Het
Duox2 G A 2: 122,115,729 (GRCm39) R1002* probably null Het
Ears2 T A 7: 121,643,786 (GRCm39) K391* probably null Het
Eif4e T C 3: 138,259,470 (GRCm39) V176A probably benign Het
Erbb4 T A 1: 68,329,638 (GRCm39) I626L probably benign Het
Fam171a1 C T 2: 3,226,037 (GRCm39) T390I probably benign Het
Fam187b A G 7: 30,677,037 (GRCm39) E182G possibly damaging Het
Fam204a A G 19: 60,209,685 (GRCm39) V15A probably benign Het
Fscn3 C T 6: 28,430,432 (GRCm39) R201* probably null Het
Fzd6 A G 15: 38,895,043 (GRCm39) D403G probably damaging Het
Gars1 G A 6: 55,029,249 (GRCm39) A210T probably null Het
Gmcl1 A T 6: 86,677,569 (GRCm39) I428N probably damaging Het
Gmip T A 8: 70,263,832 (GRCm39) I92N probably damaging Het
Il17rc G A 6: 113,456,048 (GRCm39) V298I probably damaging Het
Kifap3 A G 1: 163,610,630 (GRCm39) I37V probably benign Het
Marf1 T C 16: 13,963,789 (GRCm39) K505E probably damaging Het
Masp2 A T 4: 148,692,396 (GRCm39) probably null Het
Mmp15 G A 8: 96,093,002 (GRCm39) R127H probably damaging Het
Nrdc A G 4: 108,889,658 (GRCm39) T402A possibly damaging Het
Or10d1c A T 9: 38,894,081 (GRCm39) N86K probably benign Het
Or4k6 T A 14: 50,475,407 (GRCm39) I312L probably benign Het
Papln A T 12: 83,833,638 (GRCm39) I1185F probably damaging Het
Pcdhgb1 A G 18: 37,814,705 (GRCm39) N399D probably benign Het
Pcdhgb6 T A 18: 37,876,872 (GRCm39) S527T probably benign Het
Phkb T A 8: 86,743,493 (GRCm39) Y530* probably null Het
Pira2 A G 7: 3,844,030 (GRCm39) S581P probably benign Het
Pou4f3 A T 18: 42,528,329 (GRCm39) T91S probably benign Het
Prpf38a A G 4: 108,424,112 (GRCm39) S296P unknown Het
Rnf213 T C 11: 119,332,975 (GRCm39) V2729A Het
Rtl1 G A 12: 109,557,226 (GRCm39) Q1538* probably null Het
Sars2 T C 7: 28,447,273 (GRCm39) S224P probably damaging Het
Serpinb13 T A 1: 106,923,562 (GRCm39) L89* probably null Het
Sh3bp2 T A 5: 34,718,453 (GRCm39) probably null Het
Shank2 A G 7: 143,960,945 (GRCm39) T254A probably benign Het
Smdt1 A T 15: 82,231,504 (GRCm39) E12D probably benign Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Taar2 A G 10: 23,817,345 (GRCm39) N295S probably damaging Het
Trim24 A G 6: 37,892,208 (GRCm39) Q247R probably damaging Het
Trpc4 T A 3: 54,209,610 (GRCm39) N658K probably damaging Het
Ube2e1 T C 14: 18,284,348 (GRCm38) D137G probably damaging Het
Ubn1 T A 16: 4,899,422 (GRCm39) H1055Q probably benign Het
Vmn1r235 A G 17: 21,482,190 (GRCm39) T172A probably benign Het
Vps13d A G 4: 144,882,333 (GRCm39) F1087L Het
Xirp2 T C 2: 67,349,653 (GRCm39) S3283P probably damaging Het
Zeb2 C A 2: 44,887,158 (GRCm39) S633I 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
R7706:Senp8 UTSW 9 59,645,121 (GRCm39) missense possibly damaging 0.92
R8284:Senp8 UTSW 9 59,644,814 (GRCm39) missense
R8695:Senp8 UTSW 9 59,644,499 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAAGGAACATGGCAATTTCTG -3'
(R):5'- ATGTTAGCACTGGTGGAAATTATTG -3'

Sequencing Primer
(F):5'- CTGCTGGTGCACTTAATGAAC -3'
(R):5'- CCAGTCCTGTAAGAGTAGCT -3'
Posted On 2022-04-18