Incidental Mutation 'IGL02227:Senp3'
ID 285589
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 # IGL02227
Quality Score
Status
Chromosome 11
Chromosomal Location 69563941-69572910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69565356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 467 (V467A)
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: V467A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000005336
Gene: ENSMUSG00000005204
AA Change: V467A

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: V467A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000066581
Gene: ENSMUSG00000005204
AA Change: V467A

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 unknown
Transcript: ENSMUST00000134942
AA Change: V67A
SMART Domains Protein: ENSMUSP00000114791
Gene: ENSMUSG00000005204
AA Change: V67A

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: ENSMUST00000142214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130440
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140310
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135372
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 A G 8: 46,987,402 (GRCm39) E662G probably benign Het
Acss3 A G 10: 106,881,196 (GRCm39) S262P probably benign Het
Agap1 T C 1: 89,591,497 (GRCm39) V263A probably damaging Het
Ap3b2 A G 7: 81,123,152 (GRCm39) L454P probably damaging Het
Arrdc1 A T 2: 24,816,164 (GRCm39) F280I possibly damaging Het
Atp8b1 G T 18: 64,695,261 (GRCm39) H485N probably benign Het
Atrip A G 9: 108,890,732 (GRCm39) S91P possibly damaging Het
Bcorl1 T C X: 47,458,237 (GRCm39) V590A probably benign Het
Brf1 C A 12: 112,925,394 (GRCm39) R590S probably damaging Het
Ccdc18 A T 5: 108,296,788 (GRCm39) D197V possibly damaging Het
Ccr6 T C 17: 8,475,284 (GRCm39) V163A probably damaging Het
Cct6b T C 11: 82,632,217 (GRCm39) E257G probably damaging Het
Cdc42bpa A G 1: 179,921,989 (GRCm39) D564G possibly damaging Het
Cdh2 C T 18: 16,762,643 (GRCm39) V434I probably benign Het
Cfap410 A G 10: 77,818,784 (GRCm39) N152D possibly damaging Het
Cltc C T 11: 86,588,166 (GRCm39) V1610M possibly damaging Het
Cnot4 A G 6: 35,028,198 (GRCm39) F473L probably benign Het
Dock3 T C 9: 106,939,254 (GRCm39) K165E probably damaging Het
Duox2 A T 2: 122,115,634 (GRCm39) probably benign Het
Epha7 A G 4: 28,821,587 (GRCm39) S251G possibly damaging Het
Epn1 T A 7: 5,098,035 (GRCm39) V282E probably benign Het
Fat1 T C 8: 45,476,696 (GRCm39) L1914P probably damaging Het
Fbln2 T C 6: 91,233,349 (GRCm39) I611T possibly damaging Het
Fgd6 G T 10: 93,969,946 (GRCm39) M1198I probably damaging Het
Frmpd4 T A X: 166,275,931 (GRCm39) I379F probably damaging Het
Grk4 T A 5: 34,852,126 (GRCm39) D123E probably benign Het
Hc T G 2: 34,899,923 (GRCm39) probably benign Het
Hephl1 T C 9: 14,981,089 (GRCm39) Y781C probably damaging Het
Hfe T C 13: 23,890,926 (GRCm39) E71G probably benign Het
Hk1 A G 10: 62,116,919 (GRCm39) probably benign Het
Ifnk G A 4: 35,152,642 (GRCm39) probably benign Het
Kcnv1 C A 15: 44,977,670 (GRCm39) G123C probably damaging Het
Klhl38 A T 15: 58,186,633 (GRCm39) I32N possibly damaging Het
Lpl T C 8: 69,348,452 (GRCm39) V227A probably damaging Het
Lurap1l A T 4: 80,872,094 (GRCm39) S196C probably damaging Het
Mta1 T C 12: 113,084,528 (GRCm39) L91P possibly damaging Het
Nelfe C A 17: 35,073,330 (GRCm39) D288E probably benign Het
Or5p1 T A 7: 107,916,408 (GRCm39) C102* probably null Het
Otof T C 5: 30,528,128 (GRCm39) E1905G probably damaging Het
Pck2 T C 14: 55,781,323 (GRCm39) I148T probably benign Het
Plcl2 G T 17: 50,913,425 (GRCm39) V145F probably damaging Het
Plec A G 15: 76,056,474 (GRCm39) S4510P probably damaging Het
Plxna2 A G 1: 194,434,397 (GRCm39) E641G probably damaging Het
Poglut3 T C 9: 53,299,779 (GRCm39) L96S probably damaging Het
Ppp1r12a C T 10: 108,105,185 (GRCm39) T434M probably damaging Het
Ppp6r3 A T 19: 3,568,245 (GRCm39) N184K possibly damaging Het
Prkar1a G A 11: 109,551,001 (GRCm39) probably benign Het
Psmb1 A T 17: 15,710,546 (GRCm39) M1K probably null Het
Pwwp2a T C 11: 43,596,448 (GRCm39) S538P possibly damaging Het
Rbm25 C T 12: 83,719,527 (GRCm39) R516W probably damaging Het
Rnf103 A G 6: 71,487,172 (GRCm39) D601G probably benign Het
Slc8a3 T G 12: 81,362,457 (GRCm39) T121P probably damaging Het
Slco1a8 A T 6: 141,939,401 (GRCm39) C197* probably null Het
Srrt G A 5: 137,294,536 (GRCm39) T790M probably damaging Het
Ssc5d T C 7: 4,936,453 (GRCm39) probably null Het
Tas2r129 G A 6: 132,928,357 (GRCm39) W98* probably null Het
Thoc5 A C 11: 4,876,217 (GRCm39) M609L probably benign Het
Tnip1 G A 11: 54,827,297 (GRCm39) T155M possibly damaging Het
Ttn A G 2: 76,618,672 (GRCm39) V14458A probably benign Het
Unc5cl A G 17: 48,766,809 (GRCm39) E61G probably benign Het
Usp32 T C 11: 84,877,307 (GRCm39) K151E probably damaging Het
Vmn2r121 T C X: 123,042,378 (GRCm39) M260V probably benign Het
Vwa7 G T 17: 35,239,060 (GRCm39) R345L probably damaging Het
Zfp366 G T 13: 99,370,696 (GRCm39) R472L possibly damaging Het
Zfp811 A T 17: 33,017,616 (GRCm39) Y141* probably null Het
Zpbp C T 11: 11,365,248 (GRCm39) E200K probably benign Het
Other mutations in Senp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Senp3 APN 11 69,564,919 (GRCm39) missense possibly damaging 0.50
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 2015-04-16