Incidental Mutation 'IGL00684:Senp3'
ID13965
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Senp3
Ensembl Gene ENSMUSG00000005204
Gene NameSUMO/sentrin specific peptidase 3
SynonymsSmt3ip1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.632) question?
Stock #IGL00684
Quality Score
Status
Chromosome11
Chromosomal Location69673115-69682084 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 69674093 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 517 (V517A)
Ref Sequence ENSEMBL: ENSMUSP00000066581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005336] [ENSMUST00000066760] [ENSMUST00000102589] [ENSMUST00000163666]
Predicted Effect possibly damaging
Transcript: ENSMUST00000005336
AA Change: V517A

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000005336
Gene: ENSMUSG00000005204
AA Change: V517A

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
low complexity region 42 53 N/A INTRINSIC
low complexity region 74 86 N/A INTRINSIC
low complexity region 118 131 N/A INTRINSIC
low complexity region 183 195 N/A INTRINSIC
Pfam:Peptidase_C48 394 566 4.9e-49 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000066760
AA Change: V517A

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000066581
Gene: ENSMUSG00000005204
AA Change: V517A

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
low complexity region 42 53 N/A INTRINSIC
low complexity region 74 86 N/A INTRINSIC
low complexity region 118 131 N/A INTRINSIC
low complexity region 183 195 N/A INTRINSIC
Pfam:Peptidase_C48 394 566 4.9e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129295
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130440
Predicted Effect unknown
Transcript: ENSMUST00000134942
AA Change: V117A
SMART Domains Protein: ENSMUSP00000114791
Gene: ENSMUSG00000005204
AA Change: V117A

DomainStartEndE-ValueType
Pfam:Peptidase_C48 5 167 4.1e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153516
Predicted Effect probably benign
Transcript: ENSMUST00000163666
SMART Domains Protein: ENSMUSP00000127034
Gene: ENSMUSG00000059796

DomainStartEndE-ValueType
DEXDc 51 249 3.61e-60 SMART
HELICc 286 367 1.04e-33 SMART
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 SENP3, 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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap35 G T 7: 16,561,700 R1147S possibly damaging Het
Carnmt1 A G 19: 18,703,382 E340G possibly damaging Het
Casp8 T C 1: 58,827,314 probably null Het
Cntnap1 C T 11: 101,185,092 A934V possibly damaging Het
Hoxd8 T C 2: 74,706,766 V93A probably benign Het
Luc7l2 A G 6: 38,608,176 probably benign Het
Nupl2 C A 5: 24,182,043 A277E possibly damaging Het
Sag A T 1: 87,824,424 probably null Het
Senp1 A G 15: 98,064,838 S322P probably damaging Het
Shprh A G 10: 11,163,037 D512G probably benign Het
Syne1 T A 10: 5,342,167 probably benign Het
Zcchc11 T C 4: 108,479,466 M129T possibly damaging Het
Other mutations in Senp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02227:Senp3 APN 11 69674530 missense possibly damaging 0.95
IGL02942:Senp3 APN 11 69677989 missense probably benign 0.02
IGL02996:Senp3 APN 11 69674260 missense probably damaging 1.00
R0784:Senp3 UTSW 11 69680448 missense probably damaging 0.99
R2474:Senp3 UTSW 11 69674097 missense probably damaging 1.00
R4619:Senp3 UTSW 11 69677118 missense probably benign 0.00
R4620:Senp3 UTSW 11 69677118 missense probably benign 0.00
R4737:Senp3 UTSW 11 69678829 nonsense probably null
R4777:Senp3 UTSW 11 69678237 missense probably damaging 1.00
R4824:Senp3 UTSW 11 69677995 missense probably benign 0.16
R5513:Senp3 UTSW 11 69677139 missense probably benign
R5870:Senp3 UTSW 11 69678222 splice site probably null
Posted On2012-12-06