Incidental Mutation 'IGL02651:Senp5'
ID 302151
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Senp5
Ensembl Gene ENSMUSG00000022772
Gene Name SUMO/sentrin specific peptidase 5
Synonyms A730063F07Rik, 6230429P13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02651
Quality Score
Status
Chromosome 16
Chromosomal Location 31778490-31822105 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31808897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 92 (L92P)
Ref Sequence ENSEMBL: ENSMUSP00000115257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023457] [ENSMUST00000129900] [ENSMUST00000155515] [ENSMUST00000231360]
AlphaFold Q6NXL6
Predicted Effect probably benign
Transcript: ENSMUST00000023457
AA Change: L119P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000023457
Gene: ENSMUSG00000022772
AA Change: L119P

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 noncoding transcript
Transcript: ENSMUST00000119503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121984
Predicted Effect probably benign
Transcript: ENSMUST00000129900
AA Change: L92P

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000115257
Gene: ENSMUSG00000022772
AA Change: L92P

DomainStartEndE-ValueType
low complexity region 414 425 N/A INTRINSIC
Pfam:Peptidase_C48 548 603 5.8e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144320
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: L119P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232628
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,909,906 (GRCm39) G233S probably benign Het
Abcc1 T A 16: 14,283,990 (GRCm39) C1202S probably benign Het
Acaca C T 11: 84,136,030 (GRCm39) probably benign Het
Ap3b1 T A 13: 94,613,529 (GRCm39) F676Y probably damaging Het
Arhgef11 C A 3: 87,606,171 (GRCm39) Q309K probably damaging Het
Asgr1 T C 11: 69,947,956 (GRCm39) Y80H possibly damaging Het
Atp13a5 A T 16: 29,152,909 (GRCm39) probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atp8b2 A C 3: 89,861,896 (GRCm39) probably null Het
Btnl2 A G 17: 34,575,196 (GRCm39) M1V probably null Het
Cpsf3 T A 12: 21,343,298 (GRCm39) M121K probably damaging Het
Creb3l3 A G 10: 80,920,668 (GRCm39) I454T probably benign Het
Cyp2d12 A G 15: 82,440,941 (GRCm39) E153G probably damaging Het
Dnah5 A G 15: 28,350,768 (GRCm39) I2597V probably benign Het
Ercc5 C A 1: 44,196,104 (GRCm39) S32R probably damaging Het
Fchsd2 T A 7: 100,926,807 (GRCm39) N656K possibly damaging Het
Fga G A 3: 82,935,841 (GRCm39) E23K probably benign Het
Fn1 T C 1: 71,636,835 (GRCm39) T1925A possibly damaging Het
Fstl5 A T 3: 76,500,841 (GRCm39) E423D probably damaging Het
Glg1 C T 8: 111,887,359 (GRCm39) M465I possibly damaging Het
H2-M10.4 C A 17: 36,771,548 (GRCm39) R210L probably benign Het
Hbb-y T G 7: 103,501,957 (GRCm39) K105Q probably benign Het
Hspg2 A T 4: 137,284,756 (GRCm39) probably benign Het
Ipo11 T C 13: 107,012,114 (GRCm39) Y556C probably damaging Het
Itpr3 A G 17: 27,325,372 (GRCm39) M1322V probably damaging Het
Jhy A G 9: 40,828,631 (GRCm39) L425P probably damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Ms4a6c A T 19: 11,455,669 (GRCm39) E159D possibly damaging Het
Msh6 A T 17: 88,296,943 (GRCm39) L1213F probably damaging Het
Npy1r A C 8: 67,157,675 (GRCm39) R328S possibly damaging Het
Or4a74 A T 2: 89,439,842 (GRCm39) N201K possibly damaging Het
Or5ak20 A C 2: 85,183,394 (GRCm39) L292R probably damaging Het
Pcdhb18 T G 18: 37,624,234 (GRCm39) Y521* probably null Het
Pkhd1l1 A T 15: 44,347,210 (GRCm39) Y192F probably damaging Het
Rdh12 T A 12: 79,268,826 (GRCm39) I301N probably damaging Het
Rptor T C 11: 119,783,438 (GRCm39) V1144A possibly damaging Het
Sap25 T C 5: 137,640,632 (GRCm39) F171L possibly damaging Het
Sfmbt1 T C 14: 30,537,494 (GRCm39) S736P probably damaging Het
Tacr1 T C 6: 82,469,622 (GRCm39) S169P probably damaging Het
Tbc1d21 A T 9: 58,270,384 (GRCm39) Y130* probably null Het
Tle2 G A 10: 81,422,723 (GRCm39) G428D probably damaging Het
Tmem117 T A 15: 94,992,442 (GRCm39) N367K probably damaging Het
Tmem210 A G 2: 25,179,101 (GRCm39) T130A possibly damaging Het
Ttn T G 2: 76,680,368 (GRCm39) probably benign Het
Ttyh1 T C 7: 4,127,678 (GRCm39) L122P probably damaging Het
Vmn2r60 T C 7: 41,845,010 (GRCm39) F791S probably damaging Het
Vps13d A T 4: 144,891,129 (GRCm39) N575K probably benign Het
Vps8 T C 16: 21,336,086 (GRCm39) V746A probably damaging Het
Wdfy3 A T 5: 102,044,341 (GRCm39) M1888K probably benign Het
Zfp595 T C 13: 67,469,017 (GRCm39) D3G probably benign 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
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
R8147:Senp5 UTSW 16 31,808,128 (GRCm39) missense probably benign 0.00
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
Posted On 2015-04-16