Incidental Mutation 'IGL02554:Svopl'
ID298441
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Svopl
Ensembl Gene ENSMUSG00000029830
Gene NameSV2 related protein homolog (rat)-like
Synonyms9430071P14Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02554
Quality Score
Status
Chromosome6
Chromosomal Location37983739-38046996 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 38017043 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Serine at position 351 (I351S)
Ref Sequence ENSEMBL: ENSMUSP00000093743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096040]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000040486
Predicted Effect probably damaging
Transcript: ENSMUST00000096040
AA Change: I351S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093743
Gene: ENSMUSG00000029830
AA Change: I351S

DomainStartEndE-ValueType
Pfam:Sugar_tr 17 297 5.5e-20 PFAM
Pfam:MFS_1 50 308 2.1e-20 PFAM
transmembrane domain 349 371 N/A INTRINSIC
transmembrane domain 384 406 N/A INTRINSIC
transmembrane domain 459 481 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173428
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200796
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be a member of solute carrier family 22, which includes transmembrane proteins that transport toxins and drugs from the body. This gene is a paralog of the SVOP gene that encodes synaptic vesicle 2-related protein. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933408B17Rik A G 18: 34,593,015 S112P probably benign Het
9930111J21Rik1 T A 11: 48,948,003 M586L probably damaging Het
Abcg3 T C 5: 104,969,452 D204G possibly damaging Het
Acox3 C A 5: 35,608,366 L588I probably damaging Het
Adamts9 G T 6: 92,880,847 L849I probably benign Het
Alkbh3 T G 2: 93,996,347 T170P probably damaging Het
Anks1b A T 10: 90,921,378 H300L probably damaging Het
Arhgap29 T C 3: 121,992,524 probably benign Het
Cd86 C T 16: 36,618,485 G181D probably benign Het
Cep68 A T 11: 20,240,096 H305Q possibly damaging Het
Clptm1l A T 13: 73,607,760 D165V probably benign Het
Dctn1 T C 6: 83,182,722 Y61H probably damaging Het
Dnah7a A T 1: 53,618,046 M857K possibly damaging Het
Gpr158 A G 2: 21,826,596 M836V probably benign Het
Gria1 G T 11: 57,289,488 A755S possibly damaging Het
Helb G A 10: 120,089,712 T920M probably damaging Het
Hr T C 14: 70,559,866 probably benign Het
Igf2bp1 A G 11: 95,974,168 S152P probably damaging Het
Iqsec1 T C 6: 90,669,345 Y784C probably damaging Het
Ldah T A 12: 8,283,935 C275* probably null Het
Lpin3 T C 2: 160,896,787 S220P probably damaging Het
Med23 T C 10: 24,898,575 probably null Het
Mllt1 T C 17: 56,899,806 D346G probably benign Het
Myef2 A C 2: 125,100,425 probably null Het
Myh2 A G 11: 67,189,165 S1095G probably benign Het
Nav1 A G 1: 135,584,913 silent Het
Olfr512 A G 7: 108,713,742 M118V possibly damaging Het
Piwil2 G A 14: 70,391,486 probably benign Het
Pkhd1l1 T A 15: 44,578,500 F3612I probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
S100pbp A T 4: 129,181,851 probably null Het
Scnn1b T C 7: 121,917,523 I495T probably damaging Het
Sgo2b A C 8: 63,926,537 V1087G probably damaging Het
Sil1 A T 18: 35,348,733 V91E probably damaging Het
Slc5a4b A G 10: 76,110,851 I29T possibly damaging Het
Spink5 A T 18: 44,015,594 N908I probably benign Het
Syngr3 A G 17: 24,686,328 V198A probably benign Het
Tbck C A 3: 132,751,192 Y622* probably null Het
Tex33 A G 15: 78,378,536 M245T possibly damaging Het
Tkt T A 14: 30,558,780 M56K probably damaging Het
Trip10 T C 17: 57,263,135 V544A probably damaging Het
Txndc16 T C 14: 45,172,538 E195G probably damaging Het
Vmn2r69 G A 7: 85,409,806 P516S probably damaging Het
Vmn2r74 T C 7: 85,957,373 N255S probably benign Het
Xpo4 T C 14: 57,590,088 T884A probably benign Het
Zdhhc2 A G 8: 40,462,114 N167S probably damaging Het
Other mutations in Svopl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Svopl APN 6 38031017 critical splice donor site probably null
IGL01531:Svopl APN 6 38026941 splice site probably benign
IGL02161:Svopl APN 6 38036815 splice site probably benign
IGL03249:Svopl APN 6 38017053 missense probably benign 0.05
PIT4434001:Svopl UTSW 6 38014866 missense possibly damaging 0.85
R0285:Svopl UTSW 6 37984522 missense probably benign 0.02
R0423:Svopl UTSW 6 38036707 splice site probably benign
R0692:Svopl UTSW 6 38017196 missense probably damaging 1.00
R0960:Svopl UTSW 6 38017057 nonsense probably null
R1163:Svopl UTSW 6 38029700 missense possibly damaging 0.89
R1526:Svopl UTSW 6 38029635 missense probably benign 0.03
R2295:Svopl UTSW 6 38019733 missense possibly damaging 0.52
R2302:Svopl UTSW 6 38041166 splice site probably benign
R5933:Svopl UTSW 6 38017014 splice site probably benign
R6367:Svopl UTSW 6 38019679 missense possibly damaging 0.88
R6595:Svopl UTSW 6 38041067 splice site probably null
R6903:Svopl UTSW 6 38021608 missense probably benign 0.00
Posted On2015-04-16