Incidental Mutation 'IGL02220:Svop'
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ID285081
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Svop
Ensembl Gene ENSMUSG00000042078
Gene NameSV2 related protein
Synonyms1110030H18Rik, msvop
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02220
Quality Score
Status
Chromosome5
Chromosomal Location114026910-114091570 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 114065528 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 65 (D65G)
Ref Sequence ENSEMBL: ENSMUSP00000050730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058472] [ENSMUST00000150106] [ENSMUST00000202603]
Predicted Effect probably benign
Transcript: ENSMUST00000058472
AA Change: D65G

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000050730
Gene: ENSMUSG00000042078
AA Change: D65G

DomainStartEndE-ValueType
Pfam:Sugar_tr 66 347 2.2e-26 PFAM
Pfam:MFS_1 86 346 2e-23 PFAM
Pfam:MFS_1 376 541 2.5e-16 PFAM
Pfam:Sugar_tr 377 523 2.9e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134790
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140151
Predicted Effect probably benign
Transcript: ENSMUST00000150106
AA Change: D64G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000117724
Gene: ENSMUSG00000042078
AA Change: D64G

DomainStartEndE-ValueType
transmembrane domain 85 107 N/A INTRINSIC
transmembrane domain 120 142 N/A INTRINSIC
transmembrane domain 154 171 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162506
Predicted Effect probably benign
Transcript: ENSMUST00000202603
SMART Domains Protein: ENSMUSP00000144522
Gene: ENSMUSG00000029592

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:UCH 51 144 5.8e-11 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable with no phenotypic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,711,172 D460G probably damaging Het
Ankrd9 T C 12: 110,977,499 M1V probably null Het
Anks1 T C 17: 28,054,707 I977T probably damaging Het
Bcar1 T C 8: 111,711,207 D767G possibly damaging Het
Bcl6 A T 16: 23,974,891 I102N probably damaging Het
Cacna2d2 G A 9: 107,514,879 G473D probably damaging Het
Cdh23 G T 10: 60,305,124 H3148Q probably damaging Het
Col6a4 A G 9: 106,062,942 V1263A possibly damaging Het
Crtc2 T C 3: 90,259,148 probably benign Het
D130043K22Rik G A 13: 24,883,755 G825S possibly damaging Het
Dera T A 6: 137,780,817 probably null Het
Dnah17 G T 11: 118,072,967 Y2506* probably null Het
Enam T A 5: 88,504,559 L1309* probably null Het
Fbxo15 G A 18: 84,964,192 probably null Het
Fgfbp1 T C 5: 43,979,486 K155E probably damaging Het
Foxj2 C T 6: 122,838,581 probably benign Het
Fuca1 A G 4: 135,939,219 probably benign Het
Gad1-ps T A 10: 99,445,322 noncoding transcript Het
H2-Eb2 C T 17: 34,325,687 probably benign Het
Insr A T 8: 3,159,578 F1168L probably damaging Het
Isx T A 8: 74,892,705 V175E possibly damaging Het
Kansl3 T C 1: 36,367,989 probably benign Het
Lin9 T C 1: 180,667,367 I218T probably damaging Het
Llgl2 C A 11: 115,845,379 A126D possibly damaging Het
Ltbp2 T C 12: 84,829,309 E488G possibly damaging Het
Maml3 A G 3: 51,690,218 V369A possibly damaging Het
Mthfsl A G 9: 88,715,655 I14T probably damaging Het
Myo3b A G 2: 70,289,579 probably benign Het
Nfkbil1 T C 17: 35,220,746 R264G possibly damaging Het
Olfr140 A G 2: 90,051,694 L210P probably damaging Het
Pde5a G T 3: 122,748,382 A174S probably benign Het
Plch1 A T 3: 63,698,961 I1173N probably damaging Het
Ppfia1 C A 7: 144,481,775 R1171L probably damaging Het
Prom1 T C 5: 44,014,789 D595G probably damaging Het
Ptprz1 T C 6: 23,042,743 probably benign Het
Samsn1 A G 16: 75,883,875 probably null Het
Sbno2 T A 10: 80,072,368 T66S probably benign Het
Serpina1c T A 12: 103,896,079 I326F probably damaging Het
Slc12a1 T C 2: 125,188,270 probably null Het
Slc18a2 A G 19: 59,276,556 E324G probably benign Het
Slc40a1 A T 1: 45,911,335 M319K probably damaging Het
Slc44a5 T C 3: 154,250,971 Y287H possibly damaging Het
Stx4a A G 7: 127,842,500 E63G possibly damaging Het
Sv2a T C 3: 96,190,716 F545S probably benign Het
Tex30 A T 1: 44,087,022 S182R probably benign Het
Tmem121b T C 6: 120,492,337 D473G probably damaging Het
Tnfrsf19 C A 14: 60,973,492 probably benign Het
Tnrc6a T C 7: 123,170,456 S490P probably benign Het
Ubr4 A G 4: 139,388,435 T82A probably benign Het
Vps16 A G 2: 130,441,653 D589G possibly damaging Het
Zscan29 A C 2: 121,166,689 S184A probably damaging Het
Other mutations in Svop
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02612:Svop APN 5 114028260 makesense probably null
R0254:Svop UTSW 5 114038539 missense probably benign
R1705:Svop UTSW 5 114042295 missense probably damaging 1.00
R1826:Svop UTSW 5 114060056 critical splice donor site probably null
R3084:Svop UTSW 5 114042238 missense probably benign
R4494:Svop UTSW 5 114045627 missense probably damaging 0.99
R4575:Svop UTSW 5 114065682 missense probably damaging 1.00
R4576:Svop UTSW 5 114065682 missense probably damaging 1.00
R4578:Svop UTSW 5 114065682 missense probably damaging 1.00
R4725:Svop UTSW 5 114065485 unclassified probably benign
R5433:Svop UTSW 5 114060125 missense probably damaging 1.00
R5731:Svop UTSW 5 114060063 missense probably damaging 0.99
R5783:Svop UTSW 5 114064935 missense possibly damaging 0.73
R5889:Svop UTSW 5 114065631 missense probably benign 0.37
R8134:Svop UTSW 5 114042931 missense probably benign 0.01
R8433:Svop UTSW 5 114032761 missense probably benign 0.21
Posted On2015-04-16