Incidental Mutation 'IGL01997:Senp5'
ID182121
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 #IGL01997
Quality Score
Status
Chromosome16
Chromosomal Location31959672-32003287 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31963470 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 736 (K736R)
Ref Sequence ENSEMBL: ENSMUSP00000156109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023457] [ENSMUST00000023460] [ENSMUST00000126215] [ENSMUST00000155515] [ENSMUST00000231360]
Predicted Effect probably damaging
Transcript: ENSMUST00000023457
AA Change: K736R

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023457
Gene: ENSMUSG00000022772
AA Change: K736R

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: ENSMUST00000023460
SMART Domains Protein: ENSMUSP00000023460
Gene: ENSMUSG00000022774

DomainStartEndE-ValueType
RRM 41 114 6.96e-23 SMART
low complexity region 122 135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126215
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 damaging
Transcript: ENSMUST00000231360
AA Change: K736R

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 G A 1: 179,755,462 T83I probably damaging Het
Aoah A T 13: 20,999,938 M391L probably benign Het
Apc A G 18: 34,315,423 T1757A probably benign Het
B4galt5 A G 2: 167,301,341 Y388H probably benign Het
Cyp3a25 A T 5: 145,994,956 M114K possibly damaging Het
Dcbld1 A G 10: 52,317,110 E246G probably damaging Het
Fstl4 T A 11: 53,163,054 Y404* probably null Het
Gnat3 G T 5: 17,999,723 E125* probably null Het
Hspa5 C T 2: 34,772,315 probably benign Het
Krt72 A G 15: 101,784,880 S200P probably damaging Het
Mab21l3 G A 3: 101,818,639 T347I probably damaging Het
Map2k7 A G 8: 4,243,442 E104G probably benign Het
Map3k9 T C 12: 81,772,697 D261G probably damaging Het
Mepe C T 5: 104,337,600 P202L probably damaging Het
Mill1 G A 7: 18,255,889 G32D probably damaging Het
Mmp20 T G 9: 7,639,260 M143R probably benign Het
Mms19 A T 19: 41,956,531 L302H probably damaging Het
Myh13 T A 11: 67,367,166 I1728K probably benign Het
Nsun2 C T 13: 69,623,246 P290L probably damaging Het
Nwd2 A T 5: 63,804,595 R507S probably damaging Het
Os9 T A 10: 127,119,443 H147L probably benign Het
Piezo1 T C 8: 122,488,331 probably benign Het
Plekhf1 A T 7: 38,221,328 V272D probably damaging Het
Pnisr T C 4: 21,871,537 I419T possibly damaging Het
Ppp1r3d G T 2: 178,413,654 T185K possibly damaging Het
Ppp2r2a C T 14: 67,016,519 S400N probably benign Het
Rpl21 T C 5: 146,835,608 I96T probably benign Het
S1pr3 C T 13: 51,419,715 R311W probably damaging Het
Slfn9 T C 11: 82,987,677 I209V possibly damaging Het
Traf3ip1 T A 1: 91,507,570 probably null Het
Tyk2 A G 9: 21,110,494 F879L probably damaging Het
Vmn2r53 T C 7: 12,582,446 D482G possibly damaging Het
Vmn2r65 A G 7: 84,940,770 F646S probably damaging Het
Vps13b T A 15: 35,709,224 S1772R probably damaging Het
Vwde C T 6: 13,215,706 C117Y probably damaging Het
Zfyve26 T C 12: 79,244,400 I2144V probably benign 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
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 On2014-05-07