Incidental Mutation 'IGL02227:Senp3'
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ID285589
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: 0.621) question?
Stock #IGL02227
Quality Score
Status
Chromosome11
Chromosomal Location69673115-69682084 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 69674530 bp
ZygosityHeterozygous
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]
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 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: 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: ENSMUST00000139299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153516
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
1810043G02Rik A G 10: 77,982,950 N152D possibly damaging Het
Acsl1 A G 8: 46,534,365 E662G probably benign Het
Acss3 A G 10: 107,045,335 S262P probably benign Het
Agap1 T C 1: 89,663,775 V263A probably damaging Het
Ap3b2 A G 7: 81,473,404 L454P probably damaging Het
Arrdc1 A T 2: 24,926,152 F280I possibly damaging Het
Atp8b1 G T 18: 64,562,190 H485N probably benign Het
Atrip A G 9: 109,061,664 S91P possibly damaging Het
Bcorl1 T C X: 48,369,360 V590A probably benign Het
Brf1 C A 12: 112,961,774 R590S probably damaging Het
Ccdc18 A T 5: 108,148,922 D197V possibly damaging Het
Ccr6 T C 17: 8,256,452 V163A probably damaging Het
Cct6b T C 11: 82,741,391 E257G probably damaging Het
Cdc42bpa A G 1: 180,094,424 D564G possibly damaging Het
Cdh2 C T 18: 16,629,586 V434I probably benign Het
Cltc C T 11: 86,697,340 V1610M possibly damaging Het
Cnot4 A G 6: 35,051,263 F473L probably benign Het
Dock3 T C 9: 107,062,055 K165E probably damaging Het
Duox2 A T 2: 122,285,153 probably benign Het
Epha7 A G 4: 28,821,587 S251G possibly damaging Het
Epn1 T A 7: 5,095,036 V282E probably benign Het
Fat1 T C 8: 45,023,659 L1914P probably damaging Het
Fbln2 T C 6: 91,256,367 I611T possibly damaging Het
Fgd6 G T 10: 94,134,084 M1198I probably damaging Het
Frmpd4 T A X: 167,492,935 I379F probably damaging Het
Gm6614 A T 6: 141,993,675 C197* probably null Het
Grk4 T A 5: 34,694,782 D123E probably benign Het
Hc T G 2: 35,009,911 probably benign Het
Hephl1 T C 9: 15,069,793 Y781C probably damaging Het
Hfe T C 13: 23,706,943 E71G probably benign Het
Hk1 A G 10: 62,281,140 probably benign Het
Ifnk G A 4: 35,152,642 probably benign Het
Kcnv1 C A 15: 45,114,274 G123C probably damaging Het
Kdelc2 T C 9: 53,388,479 L96S probably damaging Het
Klhl38 A T 15: 58,323,237 I32N possibly damaging Het
Lpl T C 8: 68,895,800 V227A probably damaging Het
Lurap1l A T 4: 80,953,857 S196C probably damaging Het
Mta1 T C 12: 113,120,908 L91P possibly damaging Het
Nelfe C A 17: 34,854,354 D288E probably benign Het
Olfr491 T A 7: 108,317,201 C102* probably null Het
Otof T C 5: 30,370,784 E1905G probably damaging Het
Pck2 T C 14: 55,543,866 I148T probably benign Het
Plcl2 G T 17: 50,606,397 V145F probably damaging Het
Plec A G 15: 76,172,274 S4510P probably damaging Het
Plxna2 A G 1: 194,752,089 E641G probably damaging Het
Ppp1r12a C T 10: 108,269,324 T434M probably damaging Het
Ppp6r3 A T 19: 3,518,245 N184K possibly damaging Het
Prkar1a G A 11: 109,660,175 probably benign Het
Psmb1 A T 17: 15,490,284 M1K probably null Het
Pwwp2a T C 11: 43,705,621 S538P possibly damaging Het
Rbm25 C T 12: 83,672,753 R516W probably damaging Het
Rnf103 A G 6: 71,510,188 D601G probably benign Het
Slc8a3 T G 12: 81,315,683 T121P probably damaging Het
Srrt G A 5: 137,296,274 T790M probably damaging Het
Ssc5d T C 7: 4,933,454 probably null Het
Tas2r129 G A 6: 132,951,394 W98* probably null Het
Thoc5 A C 11: 4,926,217 M609L probably benign Het
Tnip1 G A 11: 54,936,471 T155M possibly damaging Het
Ttn A G 2: 76,788,328 V14458A probably benign Het
Unc5cl A G 17: 48,459,781 E61G probably benign Het
Usp32 T C 11: 84,986,481 K151E probably damaging Het
Vmn2r121 T C X: 124,132,681 M260V probably benign Het
Vwa7 G T 17: 35,020,084 R345L probably damaging Het
Zfp366 G T 13: 99,234,188 R472L possibly damaging Het
Zfp811 A T 17: 32,798,642 Y141* probably null Het
Zpbp C T 11: 11,415,248 E200K probably benign Het
Other mutations in Senp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Senp3 APN 11 69674093 missense possibly damaging 0.50
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
R7206:Senp3 UTSW 11 69678731 missense probably benign 0.08
R7735:Senp3 UTSW 11 69678261 missense probably damaging 0.99
Posted On2015-04-16