Incidental Mutation 'IGL03164:Otop1'
ID411541
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 #IGL03164
Quality Score
Status
Chromosome5
Chromosomal Location38275972-38304217 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 38287962 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Stop codon at position 155 (G155*)
Ref Sequence ENSEMBL: ENSMUSP00000109734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063136] [ENSMUST00000114099]
Predicted Effect probably null
Transcript: ENSMUST00000063136
AA Change: G152*
SMART Domains Protein: ENSMUSP00000061805
Gene: ENSMUSG00000051596
AA Change: G152*

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 probably null
Transcript: ENSMUST00000114099
AA Change: G155*
SMART Domains Protein: ENSMUSP00000109734
Gene: ENSMUSG00000051596
AA Change: G155*

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 60,039,649 D256G probably damaging Het
Abcb11 A T 2: 69,291,999 L380* probably null Het
Aco1 A T 4: 40,167,116 N110I probably benign Het
Adamts9 T C 6: 92,889,937 D126G probably damaging Het
Anks1b T G 10: 90,042,692 V121G probably damaging Het
Ap1s3 A G 1: 79,625,170 L40P probably damaging Het
Cd19 C A 7: 126,413,509 M237I possibly damaging Het
Chil6 T C 3: 106,394,398 T129A probably benign Het
Chtf18 A G 17: 25,726,842 M94T probably benign Het
Clstn2 G T 9: 97,799,409 D59E possibly damaging Het
Ctnnbl1 A C 2: 157,817,761 M253L probably benign Het
Erg T C 16: 95,409,871 T41A possibly damaging Het
Gjc1 T A 11: 102,800,721 N152I possibly damaging Het
Ints1 A G 5: 139,752,735 L2084P probably damaging Het
Isoc1 C T 18: 58,673,332 S238L probably damaging Het
Kdm5a T A 6: 120,439,019 D1633E probably damaging Het
Krt76 T C 15: 101,887,451 D428G possibly damaging Het
Lman1l T C 9: 57,609,995 T369A probably damaging Het
Lrp2 G T 2: 69,464,699 T3425K probably damaging Het
Lta4h T C 10: 93,470,797 probably benign Het
Nap1l4 C T 7: 143,538,216 probably null Het
Nlrp5 T A 7: 23,418,373 Y507* probably null Het
Nps T C 7: 135,272,310 S53P probably damaging Het
Olfr446 C T 6: 42,928,130 R300* probably null Het
Olfr491 T C 7: 108,317,694 S267P probably damaging Het
Oprk1 A T 1: 5,598,864 I178F probably damaging Het
Osgin2 G T 4: 16,001,938 S204R probably benign Het
Peli3 A G 19: 4,936,116 probably null Het
Pex7 T A 10: 19,894,715 probably benign Het
Pfkm T C 15: 98,131,962 L749P probably damaging Het
Pwp1 T A 10: 85,878,503 F103Y probably benign Het
Rhod T C 19: 4,432,801 K63E possibly damaging Het
Rtl1 T C 12: 109,592,933 E824G probably damaging Het
Sema4d A G 13: 51,708,922 F467L possibly damaging Het
Sept10 T C 10: 59,181,099 E201G probably damaging Het
Slc37a3 G A 6: 39,345,303 T389I probably benign Het
Slco2b1 C T 7: 99,685,536 A243T probably damaging Het
Sorbs2 A G 8: 45,782,874 T187A probably benign Het
Supt20 T A 3: 54,713,188 D389E probably benign Het
Tchh A G 3: 93,445,392 D713G unknown Het
Trappc10 T C 10: 78,220,242 R209G probably damaging Het
Unc119 A G 11: 78,348,176 D176G probably damaging Het
Usb1 G A 8: 95,333,484 R21Q probably damaging Het
Other mutations in Otop1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:Otop1 APN 5 38302845 missense probably damaging 1.00
IGL01793:Otop1 APN 5 38299871 missense possibly damaging 0.89
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
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 On2016-08-02