Incidental Mutation 'IGL00838:Senp5'
ID13966
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 #IGL00838
Quality Score
Status
Chromosome16
Chromosomal Location31959672-32003287 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31989173 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 394 (D394G)
Ref Sequence ENSEMBL: ENSMUSP00000115257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023457] [ENSMUST00000129900] [ENSMUST00000155515] [ENSMUST00000231360]
Predicted Effect probably damaging
Transcript: ENSMUST00000023457
AA Change: D421G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023457
Gene: ENSMUSG00000022772
AA Change: D421G

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 damaging
Transcript: ENSMUST00000129900
AA Change: D394G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115257
Gene: ENSMUSG00000022772
AA Change: D394G

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 possibly damaging
Transcript: ENSMUST00000155515
AA Change: D2G

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117481
Gene: ENSMUSG00000022772
AA Change: D2G

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Pfam:Peptidase_C48 156 208 2.7e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000231360
AA Change: D421G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano7 C A 1: 93,402,757 N834K possibly damaging Het
Armc10 T A 5: 21,661,581 V281E probably damaging Het
Baat A T 4: 49,490,352 M244K probably damaging Het
Cryz T A 3: 154,618,475 C166S probably damaging Het
D430041D05Rik T A 2: 104,201,303 K1649N probably damaging Het
Dennd5b T C 6: 149,005,363 probably benign Het
Dock8 A T 19: 25,175,459 R1630* probably null Het
Gstm5 A G 3: 107,897,558 N122S probably benign Het
Klra5 C A 6: 129,911,359 G35C possibly damaging Het
Klrb1f G A 6: 129,054,316 V159I possibly damaging Het
Mgl2 A T 11: 70,134,212 M14L probably benign Het
Mob1a C T 6: 83,338,331 R78C possibly damaging Het
Pigo C T 4: 43,021,767 A392T possibly damaging Het
Polr3a A T 14: 24,475,863 N436K probably benign Het
Prokr1 T C 6: 87,588,693 T57A possibly damaging Het
Ror1 T G 4: 100,333,743 V99G probably damaging Het
Ryr2 A T 13: 11,568,503 I4755N probably damaging Het
Speg A G 1: 75,410,390 I1318V possibly damaging Het
Syt6 T A 3: 103,625,626 M357K probably damaging Het
Tex11 A T X: 100,972,118 I328N possibly damaging Het
Ttc37 T C 13: 76,134,791 L744P probably damaging Het
Vnn1 T C 10: 23,900,779 F343L possibly damaging Het
Wdr72 A T 9: 74,155,129 E519V probably damaging Het
Other mutations in Senp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02560:Senp5 APN 16 31989392 missense probably benign
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 On2012-12-06