Incidental Mutation 'IGL01551:Otol1'
ID93261
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Otol1
Ensembl Gene ENSMUSG00000027788
Gene Nameotolin 1
SynonymsGm414, LOC229389
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01551
Quality Score
Status
Chromosome3
Chromosomal Location70007613-70028708 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 70027724 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 350 (F350L)
Ref Sequence ENSEMBL: ENSMUSP00000057607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053013]
Predicted Effect probably damaging
Transcript: ENSMUST00000053013
AA Change: F350L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057607
Gene: ENSMUSG00000027788
AA Change: F350L

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Collagen 116 175 8.8e-11 PFAM
internal_repeat_2 183 229 1.02e-7 PROSPERO
Pfam:Collagen 232 302 2.4e-9 PFAM
low complexity region 328 340 N/A INTRINSIC
C1Q 341 475 9.83e-51 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik G A 10: 79,088,313 S103L possibly damaging Het
Acvr2a G A 2: 48,897,059 A389T probably damaging Het
Adamts9 A G 6: 92,807,020 S1037P probably damaging Het
Adcyap1 A G 17: 93,204,018 Y140C probably damaging Het
Ampd3 A G 7: 110,804,976 N569S probably damaging Het
Bin1 G T 18: 32,377,458 V18L probably benign Het
Ccdc158 A G 5: 92,666,761 Y69H probably damaging Het
Ccdc70 A G 8: 21,973,595 R134G possibly damaging Het
Cmtm2a A G 8: 104,292,654 V101A probably damaging Het
Edar T C 10: 58,606,038 probably benign Het
Gcc2 T C 10: 58,298,869 probably benign Het
Gm10961 A G 3: 107,632,965 probably benign Het
Gm13088 T C 4: 143,656,472 N59S probably damaging Het
Hsd3b3 T C 3: 98,741,900 D369G probably benign Het
Ifi202b T A 1: 173,971,362 K373N probably benign Het
Khk C A 5: 30,924,845 H67N probably benign Het
Kif7 T A 7: 79,710,566 probably null Het
Mbd1 C T 18: 74,269,543 probably benign Het
Mtor A G 4: 148,472,037 H968R probably damaging Het
Nadk A G 4: 155,588,700 probably benign Het
Olfr1168 A T 2: 88,185,285 H136L probably benign Het
Olfr38 A G 6: 42,762,112 D20G probably damaging Het
Olfr743 A G 14: 50,534,161 T250A probably benign Het
Prkcg G A 7: 3,303,826 probably benign Het
Rps6kc1 A T 1: 190,773,640 S1042T possibly damaging Het
Rtn1 C T 12: 72,216,935 V741I possibly damaging Het
Tor2a T A 2: 32,760,583 probably benign Het
Vmn1r177 T C 7: 23,866,263 I63V probably benign Het
Vmn2r58 T A 7: 41,865,279 I89F probably damaging Het
Xirp2 A G 2: 67,513,505 D2030G probably benign Het
Zfp326 T C 5: 105,888,585 S121P probably damaging Het
Other mutations in Otol1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01664:Otol1 APN 3 70027797 missense probably benign 0.01
IGL02205:Otol1 APN 3 70018596 missense probably benign
IGL02445:Otol1 APN 3 70028034 missense probably damaging 1.00
IGL02674:Otol1 APN 3 70018744 missense probably benign 0.01
IGL03376:Otol1 APN 3 70027512 missense probably damaging 0.96
R0094:Otol1 UTSW 3 70018683 missense probably benign 0.03
R0492:Otol1 UTSW 3 70027784 missense probably damaging 0.99
R0504:Otol1 UTSW 3 70027604 missense probably damaging 1.00
R1932:Otol1 UTSW 3 70028104 missense probably benign 0.01
R2049:Otol1 UTSW 3 70018836 missense probably benign 0.06
R2321:Otol1 UTSW 3 70018525 nonsense probably null
R4042:Otol1 UTSW 3 70027779 missense probably damaging 1.00
R4043:Otol1 UTSW 3 70027779 missense probably damaging 1.00
R4044:Otol1 UTSW 3 70027779 missense probably damaging 1.00
R4092:Otol1 UTSW 3 70027785 missense probably damaging 0.99
R4433:Otol1 UTSW 3 70018548 missense probably benign 0.02
R4993:Otol1 UTSW 3 70018878 missense probably benign 0.07
R6921:Otol1 UTSW 3 70028100 missense possibly damaging 0.89
R6983:Otol1 UTSW 3 70028041 missense probably damaging 1.00
R7095:Otol1 UTSW 3 70018694 missense probably benign 0.00
R7619:Otol1 UTSW 3 70027869 missense probably damaging 1.00
RF019:Otol1 UTSW 3 70018600 missense probably benign 0.00
X0062:Otol1 UTSW 3 70027640 missense probably damaging 1.00
Posted On2013-12-09