Incidental Mutation 'R3027:Otos'
ID 265836
Institutional Source Beutler Lab
Gene Symbol Otos
Ensembl Gene ENSMUSG00000044055
Gene Name otospiralin
Synonyms
MMRRC Submission 040543-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3027 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 92571940-92576563 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92572076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 83 (H83Q)
Ref Sequence ENSEMBL: ENSMUSP00000061683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053144] [ENSMUST00000097642] [ENSMUST00000112999]
AlphaFold Q8R448
Predicted Effect probably damaging
Transcript: ENSMUST00000053144
AA Change: H83Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061683
Gene: ENSMUSG00000044055
AA Change: H83Q

DomainStartEndE-ValueType
Pfam:OTOS 21 89 9.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097642
SMART Domains Protein: ENSMUSP00000095247
Gene: ENSMUSG00000073616

DomainStartEndE-ValueType
Pfam:MYEOV2 1 57 6.2e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112999
SMART Domains Protein: ENSMUSP00000108623
Gene: ENSMUSG00000073616

DomainStartEndE-ValueType
low complexity region 5 20 N/A INTRINSIC
Pfam:MYEOV2 48 99 2e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129730
Predicted Effect probably benign
Transcript: ENSMUST00000148508
SMART Domains Protein: ENSMUSP00000123716
Gene: ENSMUSG00000073616

DomainStartEndE-ValueType
low complexity region 17 28 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159803
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (33/33)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Otospiralin is synthesized by nonsensory cells (fibrocytes) of the inner ear, and downregulation of otospiralin in guinea pigs leads to deafness (Lavigne-Rebillard et al., 2003 [PubMed 12687421]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice display decreased endocochlear potentials and shrunken type II and IV cochlear fibrocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 T C 5: 62,827,240 (GRCm39) T993A probably damaging Het
Arhgap18 G A 10: 26,722,092 (GRCm39) G21D probably benign Het
Cluap1 T A 16: 3,729,396 (GRCm39) C84* probably null Het
Dnmt3a T A 12: 3,899,626 (GRCm39) probably null Het
Etaa1 T C 11: 17,897,886 (GRCm39) D146G probably damaging Het
Fam227a T C 15: 79,532,934 (GRCm39) probably null Het
Htt T A 5: 34,977,439 (GRCm39) I775N possibly damaging Het
Itgax C A 7: 127,747,744 (GRCm39) Y1053* probably null Het
Kif21a T A 15: 90,856,845 (GRCm39) N583Y probably damaging Het
Lrp1b T A 2: 40,760,283 (GRCm39) E2995V probably benign Het
Or1ad8 G A 11: 50,897,879 (GRCm39) V27M possibly damaging Het
Or5h22 C T 16: 58,895,330 (GRCm39) V38I probably benign Het
Or6aa1 T C 7: 86,043,761 (GRCm39) N315S probably benign Het
Or8k39 C T 2: 86,563,930 (GRCm39) V9M possibly damaging Het
Pramel7 A G 2: 87,321,747 (GRCm39) M96T probably benign Het
Ptprz1 T A 6: 23,016,196 (GRCm39) S1680T possibly damaging Het
Rad50 A G 11: 53,586,208 (GRCm39) S263P probably benign Het
Resf1 T C 6: 149,230,533 (GRCm39) L1193P probably benign Het
Retreg2 A G 1: 75,123,088 (GRCm39) S339G probably damaging Het
Schip1 G A 3: 68,401,943 (GRCm39) A7T probably damaging Het
Shkbp1 A C 7: 27,042,818 (GRCm39) S540A probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Socs1 T C 16: 10,602,578 (GRCm39) D53G possibly damaging Het
Spag9 G T 11: 93,977,203 (GRCm39) R103L probably null Het
Spc24 AGAGGTAGTCACTGA AGA 9: 21,667,511 (GRCm39) probably null Het
Spo11 T C 2: 172,827,736 (GRCm39) Y146H probably damaging Het
Tmem25 T C 9: 44,709,511 (GRCm39) probably null Het
Ttyh1 A G 7: 4,122,721 (GRCm39) D23G probably benign Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zfp513 A G 5: 31,356,673 (GRCm39) S540P possibly damaging Het
Zfp808 A T 13: 62,319,404 (GRCm39) H211L probably benign Het
Other mutations in Otos
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03293:Otos APN 1 92,572,135 (GRCm39) nonsense probably null
R0766:Otos UTSW 1 92,573,073 (GRCm39) missense probably damaging 1.00
R1868:Otos UTSW 1 92,572,185 (GRCm39) missense probably damaging 1.00
R4922:Otos UTSW 1 92,572,090 (GRCm39) missense probably damaging 0.99
R4954:Otos UTSW 1 92,572,167 (GRCm39) missense probably damaging 0.99
R5100:Otos UTSW 1 92,572,107 (GRCm39) missense probably damaging 1.00
R5152:Otos UTSW 1 92,572,116 (GRCm39) missense probably damaging 1.00
R7388:Otos UTSW 1 92,572,241 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- CCAGCTAATTCACAGTGCGG -3'
(R):5'- ATGAGACAGGCACCGAGACTAC -3'

Sequencing Primer
(F):5'- TTCACAGTGCGGCAGTATAC -3'
(R):5'- GCACCGAGACTACCTGTGTCTTG -3'
Posted On 2015-02-05