Incidental Mutation 'IGL01793:Otop1'
ID155277
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Otop1
Ensembl Gene ENSMUSG00000051596
Gene Nameotopetrin 1
Synonymstlt, A530025J20Rik
Accession Numbers

NCBI RefSeq: NM_172709.3; MGI:2388363

Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL01793
Quality Score
Status
Chromosome5
Chromosomal Location38275972-38304217 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 38299871 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 325 (A325T)
Ref Sequence ENSEMBL: ENSMUSP00000109734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063136] [ENSMUST00000114099]
Predicted Effect possibly damaging
Transcript: ENSMUST00000063136
AA Change: A322T

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000061805
Gene: ENSMUSG00000051596
AA Change: A322T

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
transmembrane domain 60 82 N/A INTRINSIC
transmembrane domain 87 106 N/A INTRINSIC
Pfam:Otopetrin 127 239 1.6e-13 PFAM
Pfam:Otopetrin 240 456 1.9e-16 PFAM
low complexity region 462 471 N/A INTRINSIC
Pfam:Otopetrin 518 583 3e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114099
AA Change: A325T

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109734
Gene: ENSMUSG00000051596
AA Change: A325T

DomainStartEndE-ValueType
low complexity region 2 27 N/A INTRINSIC
transmembrane domain 63 85 N/A INTRINSIC
transmembrane domain 90 109 N/A INTRINSIC
Pfam:Otopetrin 130 457 3.1e-40 PFAM
low complexity region 466 475 N/A INTRINSIC
Pfam:Otopetrin 513 587 2.9e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187863
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 4881519; 2655558; 1856638; 4950042
PHENOTYPE: Homozygous mutant mice display vestibular abnormalities associated with absent otoconia. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted(3) Spontaneous(1) Chemically induced(2)

Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox2 A G 1: 58,336,624 I871V possibly damaging Het
Bbs7 A T 3: 36,605,682 probably null Het
D930020B18Rik T C 10: 121,671,831 I158T probably damaging Het
Drc7 T C 8: 95,071,277 I441T probably benign Het
Etl4 T C 2: 20,743,898 I147T possibly damaging Het
Fat1 G A 8: 44,989,112 M1150I probably benign Het
Fbn1 T C 2: 125,387,293 S523G possibly damaging Het
Gramd1a C T 7: 31,134,413 probably null Het
Hc A G 2: 35,028,190 Y694H probably damaging Het
Kif6 T A 17: 49,624,493 I73N probably damaging Het
Large1 A G 8: 72,859,181 probably benign Het
Luzp2 G T 7: 55,172,249 L171F probably damaging Het
Naaladl1 C A 19: 6,109,631 probably null Het
Parp8 T A 13: 116,910,879 Y219F probably damaging Het
Pkp3 A G 7: 141,088,904 I660V probably benign Het
Plin3 T C 17: 56,281,540 N238S probably benign Het
Ppef2 A T 5: 92,246,756 D186E probably damaging Het
Rab40c G A 17: 25,884,622 L156F probably damaging Het
Scnn1a T C 6: 125,343,703 V547A probably benign Het
Spag6l A G 16: 16,781,857 V247A probably damaging Het
Syne1 T C 10: 5,352,191 E853G possibly damaging Het
Synj2 T A 17: 6,038,046 H1457Q probably benign Het
Synj2 C T 17: 6,027,225 R460* probably null Het
Syt1 T C 10: 108,583,975 D275G possibly damaging Het
Tmx1 A G 12: 70,458,787 D108G probably benign Het
Vmn1r180 T C 7: 23,953,243 V277A probably benign Het
Vmn1r83 C T 7: 12,321,577 M184I probably benign Het
Zfp750 G T 11: 121,513,984 P22T probably damaging Het
Zscan2 A G 7: 80,874,944 I138V probably null Het
Other mutations in Otop1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:Otop1 APN 5 38302845 missense probably damaging 1.00
IGL02071:Otop1 APN 5 38287983 missense probably damaging 1.00
IGL02111:Otop1 APN 5 38277701 missense probably benign 0.01
IGL02660:Otop1 APN 5 38288005 missense probably damaging 0.99
IGL02672:Otop1 APN 5 38277826 critical splice donor site probably null
IGL03164:Otop1 APN 5 38287962 nonsense probably null
P0015:Otop1 UTSW 5 38294559 splice site probably benign
R0092:Otop1 UTSW 5 38299830 missense probably damaging 0.97
R0639:Otop1 UTSW 5 38287948 missense possibly damaging 0.77
R0670:Otop1 UTSW 5 38287948 missense possibly damaging 0.77
R0673:Otop1 UTSW 5 38287948 missense possibly damaging 0.77
R2092:Otop1 UTSW 5 38299766 missense probably damaging 1.00
R2105:Otop1 UTSW 5 38300458 missense probably benign
R2152:Otop1 UTSW 5 38302851 missense probably damaging 1.00
R3971:Otop1 UTSW 5 38300189 missense probably benign 0.04
R3972:Otop1 UTSW 5 38300189 missense probably benign 0.04
R4575:Otop1 UTSW 5 38299721 missense probably damaging 1.00
R4660:Otop1 UTSW 5 38300024 missense possibly damaging 0.95
R4998:Otop1 UTSW 5 38294548 critical splice donor site probably null
R5412:Otop1 UTSW 5 38297984 missense probably benign 0.25
R5461:Otop1 UTSW 5 38299715 missense probably damaging 1.00
R5607:Otop1 UTSW 5 38294504 missense possibly damaging 0.68
R5625:Otop1 UTSW 5 38302761 missense probably damaging 1.00
R5677:Otop1 UTSW 5 38300163 missense probably damaging 1.00
R5792:Otop1 UTSW 5 38297916 missense probably benign 0.04
R5878:Otop1 UTSW 5 38277822 missense possibly damaging 0.73
R6163:Otop1 UTSW 5 38287890 splice site probably null
R7338:Otop1 UTSW 5 38300203 nonsense probably null
X0064:Otop1 UTSW 5 38299751 missense probably damaging 1.00
Z1177:Otop1 UTSW 5 38277770 nonsense probably null
Posted On2014-02-04