Incidental Mutation 'IGL02560:Senp5'
ID298186
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Senp5
Ensembl Gene ENSMUSG00000022772
Gene NameSUMO/sentrin specific peptidase 5
Synonyms6230429P13Rik, A730063F07Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02560
Quality Score
Status
Chromosome16
Chromosomal Location31959672-32003287 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 31989392 bp
ZygosityHeterozygous
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]
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
9230019H11Rik A G 10: 3,125,866 noncoding transcript Het
Ano4 C T 10: 88,978,741 W660* probably null Het
Atp9b T C 18: 80,762,198 D715G probably benign Het
Catsper1 T C 19: 5,336,188 S150P possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cldn19 G A 4: 119,255,724 W51* probably null Het
Ddx31 T C 2: 28,875,826 I512T probably damaging Het
Dsc2 G T 18: 20,045,539 D269E probably damaging Het
Dsg1b T C 18: 20,409,178 V914A possibly damaging Het
Etl4 A G 2: 20,743,718 E420G probably damaging Het
Foxa2 A G 2: 148,044,031 L113P probably benign Het
Gm6034 T G 17: 36,056,464 probably benign Het
Gtf3c4 A T 2: 28,834,267 Y343* probably null Het
Hhip A T 8: 79,987,009 Y563N probably damaging Het
Ighg2c A T 12: 113,287,884 C208S unknown Het
Lipo2 A G 19: 33,730,948 L222P possibly damaging Het
Myb A T 10: 21,152,448 L172Q probably damaging Het
Nipal3 A T 4: 135,479,704 Y60N probably damaging Het
Npas2 A T 1: 39,333,961 probably benign Het
Olfr1008 T A 2: 85,689,519 V30D possibly damaging Het
Olfr1089 A T 2: 86,733,234 I126N probably damaging Het
Olfr196 G T 16: 59,167,528 S205* probably null Het
Pdxdc1 T C 16: 13,839,732 D532G probably benign Het
Pwp2 T C 10: 78,179,065 S362G probably damaging Het
Slc25a37 T C 14: 69,245,292 T187A probably benign Het
Svil A G 18: 5,049,379 I219V probably benign Het
Tcf4 A G 18: 69,643,022 probably benign Het
Tex15 T C 8: 33,581,751 V2442A probably benign Het
Tomm70a T C 16: 57,149,849 L530S probably benign Het
Wscd2 A T 5: 113,560,984 D200V probably benign Het
Zfp952 C T 17: 33,002,819 Q53* probably null Het
Other mutations in Senp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Senp5 APN 16 31989173 missense probably damaging 1.00
IGL00990:Senp5 APN 16 31990274 missense probably benign 0.00
IGL01707:Senp5 APN 16 31989770 missense probably damaging 0.99
IGL01923:Senp5 APN 16 31965816 missense probably damaging 1.00
IGL01997:Senp5 APN 16 31963470 missense probably damaging 0.97
IGL02273:Senp5 APN 16 31989872 missense probably benign 0.14
IGL02651:Senp5 APN 16 31990079 missense probably benign 0.04
IGL02830:Senp5 APN 16 31983485 splice site probably benign
R0578:Senp5 UTSW 16 31989345 missense possibly damaging 0.75
R1879:Senp5 UTSW 16 31983824 missense probably damaging 1.00
R2153:Senp5 UTSW 16 31968874 missense probably damaging 1.00
R4903:Senp5 UTSW 16 31983299 missense probably damaging 1.00
R5092:Senp5 UTSW 16 31989142 missense probably benign 0.00
R5590:Senp5 UTSW 16 31989513 missense probably damaging 0.99
R6346:Senp5 UTSW 16 31983847 missense probably damaging 1.00
R6362:Senp5 UTSW 16 31989884 missense probably damaging 0.99
R6762:Senp5 UTSW 16 31989884 missense probably damaging 0.99
R7002:Senp5 UTSW 16 31983775 missense probably damaging 1.00
R7027:Senp5 UTSW 16 31989295 missense probably benign
R7436:Senp5 UTSW 16 31976029 missense unknown
R7721:Senp5 UTSW 16 31990434 start codon destroyed unknown
R7847:Senp5 UTSW 16 31990173 missense probably benign 0.25
R7930:Senp5 UTSW 16 31990173 missense probably benign 0.25
Posted On2015-04-16