Incidental Mutation 'R0094:Otol1'
ID17974
Institutional Source Beutler Lab
Gene Symbol Otol1
Ensembl Gene ENSMUSG00000027788
Gene Nameotolin 1
SynonymsGm414, LOC229389
MMRRC Submission 038380-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0094 (G1)
Quality Score
Status Validated
Chromosome3
Chromosomal Location70007613-70028708 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 70018683 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 64 (A64T)
Ref Sequence ENSEMBL: ENSMUSP00000057607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053013]
Predicted Effect probably benign
Transcript: ENSMUST00000053013
AA Change: A64T

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000057607
Gene: ENSMUSG00000027788
AA Change: A64T

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 84.5%
  • 3x: 75.9%
  • 10x: 43.5%
  • 20x: 12.9%
Validation Efficiency 86% (51/59)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,409,778 probably benign Het
4930432E11Rik A G 7: 29,560,811 noncoding transcript Het
4931429L15Rik T A 9: 46,306,886 T185S possibly damaging Het
Ahnak T A 19: 9,013,893 D4180E probably benign Het
Amotl1 A G 9: 14,575,387 S441P probably benign Het
Ankrd12 A T 17: 65,970,176 D2034E probably damaging Het
B3gnt2 T C 11: 22,836,655 R178G probably damaging Het
Colgalt1 T C 8: 71,623,158 V483A probably damaging Het
Ctsj A C 13: 61,003,705 probably null Het
Dap3 T A 3: 88,927,028 M294L probably benign Het
Ddias T C 7: 92,859,900 N269S possibly damaging Het
Dsg2 A T 18: 20,591,853 T439S probably benign Het
Eif2b1 A G 5: 124,571,766 F250L probably benign Het
Emc1 T A 4: 139,360,485 F100Y probably damaging Het
Hfm1 T A 5: 106,917,478 M112L probably benign Het
Lipg T C 18: 74,945,846 Y445C probably benign Het
Lrp1b T C 2: 41,282,030 probably benign Het
Ltbp2 A G 12: 84,799,426 Y897H probably damaging Het
Mfap5 G A 6: 122,525,992 V54I probably damaging Het
Mvd C T 8: 122,439,703 R65H probably benign Het
Mybpc2 A G 7: 44,516,904 Y221H probably damaging Het
Nbeal1 T A 1: 60,305,309 I2323N possibly damaging Het
Olfr293 A G 7: 86,664,294 S211G probably benign Het
Pcdh8 G T 14: 79,768,148 D933E probably damaging Het
Pkd1 A G 17: 24,581,276 T3004A possibly damaging Het
Pkhd1 T A 1: 20,209,246 R2949S probably damaging Het
Ptpro T C 6: 137,386,352 Y495H probably benign Het
Rad54b T C 4: 11,599,681 V72A possibly damaging Het
Ranbp3 A G 17: 56,709,338 probably benign Het
Rpa2 T C 4: 132,770,582 S52P probably damaging Het
Serping1 T G 2: 84,773,276 R140S probably benign Het
Slc34a2 T C 5: 53,063,968 F252S probably benign Het
Spata45 A G 1: 191,039,862 probably benign Het
Sptan1 T C 2: 30,006,623 S1174P probably benign Het
Ss18l2 T C 9: 121,712,633 L64P probably benign Het
Tmem81 A G 1: 132,508,049 I198V probably benign Het
Trappc9 A T 15: 72,894,929 probably benign Het
Ubr3 C T 2: 69,951,362 T628I probably damaging Het
Zzef1 C T 11: 72,817,965 T130I probably benign Het
Other mutations in Otol1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01551:Otol1 APN 3 70027724 missense probably damaging 1.00
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
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 On2013-03-25