Incidental Mutation 'IGL00684:Senp3'
ID 13965
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Senp3
Ensembl Gene ENSMUSG00000005204
Gene Name SUMO/sentrin specific peptidase 3
Synonyms Smt3ip1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.661) question?
Stock # IGL00684
Quality Score
Status
Chromosome 11
Chromosomal Location 69563941-69572910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69564919 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9EP97
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 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: ENSMUST00000129295
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130440
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135372
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: 16,295,625 (GRCm39) R1147S possibly damaging Het
Carnmt1 A G 19: 18,680,746 (GRCm39) E340G possibly damaging Het
Casp8 T C 1: 58,866,473 (GRCm39) probably null Het
Cntnap1 C T 11: 101,075,918 (GRCm39) A934V possibly damaging Het
Hoxd8 T C 2: 74,537,110 (GRCm39) V93A probably benign Het
Luc7l2 A G 6: 38,585,111 (GRCm39) probably benign Het
Nup42 C A 5: 24,387,041 (GRCm39) A277E possibly damaging Het
Sag A T 1: 87,752,146 (GRCm39) probably null Het
Senp1 A G 15: 97,962,719 (GRCm39) S322P probably damaging Het
Shprh A G 10: 11,038,781 (GRCm39) D512G probably benign Het
Syne1 T A 10: 5,342,167 (GRCm38) probably benign Het
Tut4 T C 4: 108,336,663 (GRCm39) M129T possibly damaging Het
Other mutations in Senp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02227:Senp3 APN 11 69,565,356 (GRCm39) missense possibly damaging 0.95
IGL02942:Senp3 APN 11 69,568,815 (GRCm39) missense probably benign 0.02
IGL02996:Senp3 APN 11 69,565,086 (GRCm39) missense probably damaging 1.00
R0784:Senp3 UTSW 11 69,571,274 (GRCm39) missense probably damaging 0.99
R2474:Senp3 UTSW 11 69,564,923 (GRCm39) missense probably damaging 1.00
R4619:Senp3 UTSW 11 69,567,944 (GRCm39) missense probably benign 0.00
R4620:Senp3 UTSW 11 69,567,944 (GRCm39) missense probably benign 0.00
R4737:Senp3 UTSW 11 69,569,655 (GRCm39) nonsense probably null
R4777:Senp3 UTSW 11 69,569,063 (GRCm39) missense probably damaging 1.00
R4824:Senp3 UTSW 11 69,568,821 (GRCm39) missense probably benign 0.16
R5513:Senp3 UTSW 11 69,567,965 (GRCm39) missense probably benign
R5870:Senp3 UTSW 11 69,569,048 (GRCm39) splice site probably null
R7206:Senp3 UTSW 11 69,569,557 (GRCm39) missense probably benign 0.08
R7735:Senp3 UTSW 11 69,569,087 (GRCm39) missense probably damaging 0.99
R8724:Senp3 UTSW 11 69,564,419 (GRCm39) missense probably damaging 0.99
R9228:Senp3 UTSW 11 69,569,085 (GRCm39) missense probably damaging 0.96
R9767:Senp3 UTSW 11 69,569,013 (GRCm39) missense possibly damaging 0.71
Posted On 2012-12-06