Incidental Mutation 'R8147:Senp5'
ID 632882
Institutional Source Beutler Lab
Gene Symbol Senp5
Ensembl Gene ENSMUSG00000022772
Gene Name SUMO/sentrin specific peptidase 5
Synonyms A730063F07Rik, 6230429P13Rik
MMRRC Submission 067575-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8147 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 31778490-31822105 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31808128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 375 (H375Q)
Ref Sequence ENSEMBL: ENSMUSP00000023457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023457] [ENSMUST00000129900] [ENSMUST00000155515] [ENSMUST00000231360]
AlphaFold Q6NXL6
Predicted Effect probably benign
Transcript: ENSMUST00000023457
AA Change: H375Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000023457
Gene: ENSMUSG00000022772
AA Change: H375Q

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
low complexity region 441 452 N/A INTRINSIC
Pfam:Peptidase_C48 575 747 3.9e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129900
AA Change: H348Q

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000115257
Gene: ENSMUSG00000022772
AA Change: H348Q

DomainStartEndE-ValueType
low complexity region 414 425 N/A INTRINSIC
Pfam:Peptidase_C48 548 603 5.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155515
SMART Domains Protein: ENSMUSP00000117481
Gene: ENSMUSG00000022772

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Pfam:Peptidase_C48 156 208 2.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231360
AA Change: H375Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 98.5%
  • 20x: 94.3%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP5, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 T C 16: 56,562,876 (GRCm39) E487G probably damaging Het
Aldh9a1 T A 1: 167,184,949 (GRCm39) I287N probably damaging Het
Aox1 T A 1: 58,339,821 (GRCm39) N371K probably benign Het
Atr T A 9: 95,781,113 (GRCm39) F1392L probably damaging Het
Bicra G A 7: 15,722,395 (GRCm39) P374L possibly damaging Het
Cacna1b C T 2: 24,569,188 (GRCm39) R912Q probably damaging Het
Cdhr1 T C 14: 36,801,609 (GRCm39) N778S probably benign Het
Cert1 C T 13: 96,679,736 (GRCm39) P22L probably benign Het
Dgat2 C T 7: 98,806,187 (GRCm39) V337I possibly damaging Het
Dlg5 T C 14: 24,208,395 (GRCm39) D937G probably benign Het
Dqx1 T C 6: 83,037,222 (GRCm39) V295A probably benign Het
Dsg3 A G 18: 20,673,130 (GRCm39) T934A probably benign Het
Fam81b A C 13: 76,383,140 (GRCm39) V243G probably damaging Het
Gen1 A T 12: 11,305,051 (GRCm39) probably null Het
Glrx3 G A 7: 137,064,736 (GRCm39) S275N probably benign Het
Igdcc4 A T 9: 65,031,253 (GRCm39) Q397L probably benign Het
Ints6 C T 14: 62,951,186 (GRCm39) G281D probably damaging Het
Kalrn A T 16: 33,875,414 (GRCm39) S1722T probably benign Het
Lrrc4b A G 7: 44,111,829 (GRCm39) D567G probably damaging Het
Macf1 A G 4: 123,385,491 (GRCm39) L1200S probably damaging Het
Mad1l1 G A 5: 140,129,734 (GRCm39) R434C probably damaging Het
Mia3 A T 1: 183,109,062 (GRCm39) F358I Het
Ncapd3 C T 9: 26,942,014 (GRCm39) probably benign Het
Nfkb2 A G 19: 46,295,873 (GRCm39) R156G possibly damaging Het
Nus1 T C 10: 52,305,416 (GRCm39) probably null Het
Or2y14 C T 11: 49,405,050 (GRCm39) T195I probably benign Het
Or4a79 T A 2: 89,552,186 (GRCm39) I90F probably damaging Het
Or4c31 T C 2: 88,292,427 (GRCm39) F267L possibly damaging Het
Or5aq1b T A 2: 86,902,017 (GRCm39) I154F probably benign Het
Pafah1b2 A G 9: 45,895,147 (GRCm39) probably null Het
Pold2 T C 11: 5,826,842 (GRCm39) T31A probably benign Het
Ppp1r12b T C 1: 134,801,680 (GRCm39) N512S possibly damaging Het
Prl8a8 A T 13: 27,695,564 (GRCm39) L23Q probably damaging Het
Ptprb T C 10: 116,153,283 (GRCm39) V293A probably damaging Het
Rpl18a G T 8: 71,348,069 (GRCm39) T174N probably damaging Het
Setbp1 A T 18: 78,900,015 (GRCm39) F1217L probably damaging Het
Skint4 A G 4: 111,993,218 (GRCm39) I314V probably benign Het
Slc28a2 A G 2: 122,288,682 (GRCm39) D596G probably benign Het
Stat5b A G 11: 100,688,607 (GRCm39) I285T probably benign Het
Sycp3 T C 10: 88,298,467 (GRCm39) probably null Het
Sympk T C 7: 18,770,718 (GRCm39) F270L probably damaging Het
Taar5 T C 10: 23,846,749 (GRCm39) V49A probably damaging Het
Tbx18 C T 9: 87,606,411 (GRCm39) V245I probably damaging Het
Tet1 A G 10: 62,714,586 (GRCm39) M403T probably benign Het
Tmprss11f A T 5: 86,677,769 (GRCm39) F333L probably damaging Het
Tnpo3 T C 6: 29,589,213 (GRCm39) I46V probably benign Het
Traf5 G T 1: 191,746,984 (GRCm39) N112K probably damaging Het
Trim12c A T 7: 103,991,165 (GRCm39) M263K unknown Het
Trim55 A G 3: 19,727,011 (GRCm39) I359M probably benign Het
Utp20 A T 10: 88,594,306 (GRCm39) W2140R probably benign Het
Vgll3 T C 16: 65,624,964 (GRCm39) V104A probably damaging Het
Vmn2r74 C A 7: 85,605,227 (GRCm39) G474* probably null Het
Vps18 G A 2: 119,123,237 (GRCm39) A98T probably benign Het
Zfand4 T A 6: 116,291,169 (GRCm39) S387T probably damaging Het
Zfp808 A G 13: 62,320,934 (GRCm39) Y721C probably damaging Het
Other mutations in Senp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Senp5 APN 16 31,807,991 (GRCm39) missense probably damaging 1.00
IGL00990:Senp5 APN 16 31,809,092 (GRCm39) missense probably benign 0.00
IGL01707:Senp5 APN 16 31,808,588 (GRCm39) missense probably damaging 0.99
IGL01923:Senp5 APN 16 31,784,634 (GRCm39) missense probably damaging 1.00
IGL01997:Senp5 APN 16 31,782,288 (GRCm39) missense probably damaging 0.97
IGL02273:Senp5 APN 16 31,808,690 (GRCm39) missense probably benign 0.14
IGL02560:Senp5 APN 16 31,808,210 (GRCm39) missense probably benign
IGL02651:Senp5 APN 16 31,808,897 (GRCm39) missense probably benign 0.04
IGL02830:Senp5 APN 16 31,802,303 (GRCm39) splice site probably benign
R0578:Senp5 UTSW 16 31,808,163 (GRCm39) missense possibly damaging 0.75
R1879:Senp5 UTSW 16 31,802,642 (GRCm39) missense probably damaging 1.00
R2153:Senp5 UTSW 16 31,787,692 (GRCm39) missense probably damaging 1.00
R4903:Senp5 UTSW 16 31,802,117 (GRCm39) missense probably damaging 1.00
R5092:Senp5 UTSW 16 31,807,960 (GRCm39) missense probably benign 0.00
R5590:Senp5 UTSW 16 31,808,331 (GRCm39) missense probably damaging 0.99
R6346:Senp5 UTSW 16 31,802,665 (GRCm39) missense probably damaging 1.00
R6362:Senp5 UTSW 16 31,808,702 (GRCm39) missense probably damaging 0.99
R6762:Senp5 UTSW 16 31,808,702 (GRCm39) missense probably damaging 0.99
R7002:Senp5 UTSW 16 31,802,593 (GRCm39) missense probably damaging 1.00
R7027:Senp5 UTSW 16 31,808,113 (GRCm39) missense probably benign
R7436:Senp5 UTSW 16 31,794,847 (GRCm39) missense unknown
R7721:Senp5 UTSW 16 31,809,252 (GRCm39) start codon destroyed unknown
R7847:Senp5 UTSW 16 31,808,991 (GRCm39) missense probably benign 0.25
R7992:Senp5 UTSW 16 31,796,514 (GRCm39) missense probably damaging 1.00
R8081:Senp5 UTSW 16 31,784,577 (GRCm39) missense probably damaging 1.00
R8313:Senp5 UTSW 16 31,808,117 (GRCm39) missense probably benign 0.10
R8353:Senp5 UTSW 16 31,808,166 (GRCm39) missense probably benign 0.00
R8453:Senp5 UTSW 16 31,808,166 (GRCm39) missense probably benign 0.00
R8506:Senp5 UTSW 16 31,787,719 (GRCm39) missense probably damaging 1.00
R9079:Senp5 UTSW 16 31,787,718 (GRCm39) missense probably damaging 1.00
R9317:Senp5 UTSW 16 31,802,390 (GRCm39) missense probably damaging 1.00
R9776:Senp5 UTSW 16 31,782,279 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAACTAAGAATGCTCTGCTTCAG -3'
(R):5'- AACTGTCACGTGCCTGATGG -3'

Sequencing Primer
(F):5'- CCATCTGGAAGTTCTCATTCTGGG -3'
(R):5'- CGTGCCTGATGGTCACACTAAAG -3'
Posted On 2020-06-30