Incidental Mutation 'R8368:Otol1'
ID 646244
Institutional Source Beutler Lab
Gene Symbol Otol1
Ensembl Gene ENSMUSG00000027788
Gene Name otolin 1
Synonyms Gm414, LOC229389
MMRRC Submission 067738-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8368 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 69914946-69936041 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69935199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 397 (Y397C)
Ref Sequence ENSEMBL: ENSMUSP00000057607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053013]
AlphaFold Q4ZJM7
Predicted Effect probably damaging
Transcript: ENSMUST00000053013
AA Change: Y397C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057607
Gene: ENSMUSG00000027788
AA Change: Y397C

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 A T 15: 76,619,455 (GRCm39) S710T probably damaging Het
Asb10 A C 5: 24,744,615 (GRCm39) I193S probably benign Het
C2cd6 A G 1: 59,133,820 (GRCm39) L67P probably benign Het
Ccdc14 T C 16: 34,543,742 (GRCm39) L748P probably benign Het
Cers4 T G 8: 4,565,698 (GRCm39) V48G probably benign Het
Chrna10 T C 7: 101,764,223 (GRCm39) T54A probably benign Het
Dip2b T C 15: 100,052,124 (GRCm39) S242P probably benign Het
Fam151a A G 4: 106,604,190 (GRCm39) T325A probably benign Het
Gm21190 A T 5: 15,729,848 (GRCm39) S257T possibly damaging Het
Gm49368 T C 7: 127,713,921 (GRCm39) S909P probably benign Het
Gm5150 C A 3: 16,044,902 (GRCm39) V108F probably damaging Het
Gsdmc2 G A 15: 63,696,902 (GRCm39) T423I probably damaging Het
Hsf2 T A 10: 57,388,241 (GRCm39) C501S probably damaging Het
Igf1r A G 7: 67,836,796 (GRCm39) N551D probably benign Het
Kctd3 G A 1: 188,704,404 (GRCm39) T789I probably benign Het
Lad1 A G 1: 135,759,264 (GRCm39) E474G probably damaging Het
Lfng G A 5: 140,598,981 (GRCm39) E297K probably damaging Het
Magi3 A T 3: 104,002,379 (GRCm39) probably null Het
Nrdc A G 4: 108,870,895 (GRCm39) D174G probably benign Het
Nrxn3 T A 12: 90,298,815 (GRCm39) Y445* probably null Het
Pkd2 G T 5: 104,607,653 (GRCm39) E51* probably null Het
Rad21l A G 2: 151,495,390 (GRCm39) V431A probably benign Het
Rad50 A G 11: 53,574,155 (GRCm39) L694S possibly damaging Het
Rasal1 A G 5: 120,809,615 (GRCm39) S507G probably damaging Het
Ros1 T A 10: 51,940,833 (GRCm39) D2162V probably damaging Het
Samd7 A T 3: 30,819,574 (GRCm39) D441V probably damaging Het
Senp1 T C 15: 97,943,255 (GRCm39) S623G probably damaging Het
Shld1 T C 2: 132,592,433 (GRCm39) I160T probably benign Het
Slc23a3 G T 1: 75,106,281 (GRCm39) P313T probably damaging Het
Slc66a2 T C 18: 80,334,873 (GRCm39) S231P probably benign Het
Stab1 T C 14: 30,870,368 (GRCm39) D1320G possibly damaging Het
Tdpoz7 A G 3: 93,979,893 (GRCm39) F20S probably damaging Het
Tinf2 T C 14: 55,917,030 (GRCm39) T372A probably damaging Het
Trim45 A G 3: 100,830,672 (GRCm39) T149A possibly damaging Het
Trim63 TGAGGAGGAGGAGGAGGAGGAG TGAGGAGGAGGAGGAGGAG 4: 134,055,017 (GRCm39) probably benign Het
Unc13c C T 9: 73,838,070 (GRCm39) S927N probably benign Het
Uqcrfs1 C A 13: 30,724,799 (GRCm39) G247V probably damaging Het
Zfp143 A T 7: 109,682,455 (GRCm39) N342I probably damaging Het
Other mutations in Otol1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01551:Otol1 APN 3 69,935,057 (GRCm39) missense probably damaging 1.00
IGL01664:Otol1 APN 3 69,935,130 (GRCm39) missense probably benign 0.01
IGL02205:Otol1 APN 3 69,925,929 (GRCm39) missense probably benign
IGL02445:Otol1 APN 3 69,935,367 (GRCm39) missense probably damaging 1.00
IGL02674:Otol1 APN 3 69,926,077 (GRCm39) missense probably benign 0.01
IGL03376:Otol1 APN 3 69,934,845 (GRCm39) missense probably damaging 0.96
R0094:Otol1 UTSW 3 69,926,016 (GRCm39) missense probably benign 0.03
R0492:Otol1 UTSW 3 69,935,117 (GRCm39) missense probably damaging 0.99
R0504:Otol1 UTSW 3 69,934,937 (GRCm39) missense probably damaging 1.00
R1932:Otol1 UTSW 3 69,935,437 (GRCm39) missense probably benign 0.01
R2049:Otol1 UTSW 3 69,926,169 (GRCm39) missense probably benign 0.06
R2321:Otol1 UTSW 3 69,925,858 (GRCm39) nonsense probably null
R4042:Otol1 UTSW 3 69,935,112 (GRCm39) missense probably damaging 1.00
R4043:Otol1 UTSW 3 69,935,112 (GRCm39) missense probably damaging 1.00
R4044:Otol1 UTSW 3 69,935,112 (GRCm39) missense probably damaging 1.00
R4092:Otol1 UTSW 3 69,935,118 (GRCm39) missense probably damaging 0.99
R4433:Otol1 UTSW 3 69,925,881 (GRCm39) missense probably benign 0.02
R4993:Otol1 UTSW 3 69,926,211 (GRCm39) missense probably benign 0.07
R6921:Otol1 UTSW 3 69,935,433 (GRCm39) missense possibly damaging 0.89
R6983:Otol1 UTSW 3 69,935,374 (GRCm39) missense probably damaging 1.00
R7095:Otol1 UTSW 3 69,926,027 (GRCm39) missense probably benign 0.00
R7619:Otol1 UTSW 3 69,935,202 (GRCm39) missense probably damaging 1.00
R8851:Otol1 UTSW 3 69,935,299 (GRCm39) missense probably damaging 1.00
RF019:Otol1 UTSW 3 69,925,933 (GRCm39) missense probably benign 0.00
X0062:Otol1 UTSW 3 69,934,973 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAAGGGTTCCAAAGGCGAG -3'
(R):5'- AGGAACCCACTAAAGATGCTGTC -3'

Sequencing Primer
(F):5'- GCGAGGCCACACAAGTC -3'
(R):5'- ATGCTGTCATCCTCGGGG -3'
Posted On 2020-09-02