Incidental Mutation 'IGL02560:Senp5'
ID 298186
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 # IGL02560
Quality Score
Status
Chromosome 16
Chromosomal Location 31778490-31822105 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31808210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 348 (V348A)
Ref Sequence ENSEMBL: ENSMUSP00000156109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023457] [ENSMUST00000129900] [ENSMUST00000155515] [ENSMUST00000231360]
AlphaFold Q6NXL6
Predicted Effect probably benign
Transcript: ENSMUST00000023457
AA Change: V348A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023457
Gene: ENSMUSG00000022772
AA Change: V348A

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: V321A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115257
Gene: ENSMUSG00000022772
AA Change: V321A

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: V348A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 C T 10: 88,814,603 (GRCm39) W660* probably null Het
Atp9b T C 18: 80,805,413 (GRCm39) D715G probably benign Het
Catsper1 T C 19: 5,386,216 (GRCm39) S150P possibly damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cldn19 G A 4: 119,112,921 (GRCm39) W51* probably null Het
Ddx31 T C 2: 28,765,838 (GRCm39) I512T probably damaging Het
Dsc2 G T 18: 20,178,596 (GRCm39) D269E probably damaging Het
Dsg1b T C 18: 20,542,235 (GRCm39) V914A possibly damaging Het
Etl4 A G 2: 20,748,529 (GRCm39) E420G probably damaging Het
Foxa2 A G 2: 147,885,951 (GRCm39) L113P probably benign Het
Gm6034 T G 17: 36,367,356 (GRCm39) probably benign Het
Gtf3c4 A T 2: 28,724,279 (GRCm39) Y343* probably null Het
Hhip A T 8: 80,713,638 (GRCm39) Y563N probably damaging Het
Ighg2c A T 12: 113,251,504 (GRCm39) C208S unknown Het
Lipo2 A G 19: 33,708,348 (GRCm39) L222P possibly damaging Het
Myb A T 10: 21,028,347 (GRCm39) L172Q probably damaging Het
Nipal3 A T 4: 135,207,015 (GRCm39) Y60N probably damaging Het
Npas2 A T 1: 39,373,042 (GRCm39) probably benign Het
Or5h26 G T 16: 58,987,891 (GRCm39) S205* probably null Het
Or8k16 T A 2: 85,519,863 (GRCm39) V30D possibly damaging Het
Or8k39 A T 2: 86,563,578 (GRCm39) I126N probably damaging Het
Pdxdc1 T C 16: 13,657,596 (GRCm39) D532G probably benign Het
Pwp2 T C 10: 78,014,899 (GRCm39) S362G probably damaging Het
Slc25a37 T C 14: 69,482,741 (GRCm39) T187A probably benign Het
Svil A G 18: 5,049,379 (GRCm39) I219V probably benign Het
Tcf4 A G 18: 69,776,093 (GRCm39) probably benign Het
Tex15 T C 8: 34,071,779 (GRCm39) V2442A probably benign Het
Tomm70a T C 16: 56,970,212 (GRCm39) L530S probably benign Het
Ulbp3 A G 10: 3,075,866 (GRCm39) noncoding transcript Het
Wscd2 A T 5: 113,699,045 (GRCm39) D200V probably benign Het
Zfp952 C T 17: 33,221,793 (GRCm39) Q53* probably null 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
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
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