Incidental Mutation 'IGL03293:Otos'
ID415986
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Otos
Ensembl Gene ENSMUSG00000044055
Gene Nameotospiralin
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03293
Quality Score
Status
Chromosome1
Chromosomal Location92644218-92648841 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 92644413 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 64 (E64*)
Ref Sequence ENSEMBL: ENSMUSP00000061683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053144] [ENSMUST00000097642] [ENSMUST00000112999]
Predicted Effect probably null
Transcript: ENSMUST00000053144
AA Change: E64*
SMART Domains Protein: ENSMUSP00000061683
Gene: ENSMUSG00000044055
AA Change: E64*

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
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230019H11Rik A G 10: 3,125,699 noncoding transcript Het
A830018L16Rik T A 1: 11,545,151 probably null Het
Akr1c14 C T 13: 4,079,130 R45* probably null Het
Ccdc62 T A 5: 123,951,225 L309I possibly damaging Het
Ccdc66 T A 14: 27,490,671 N565I probably damaging Het
Cerkl G T 2: 79,342,375 A318E probably damaging Het
Clec4n A T 6: 123,232,146 T57S probably benign Het
Cluh A G 11: 74,665,752 E921G probably benign Het
Cnbd1 C T 4: 18,860,565 E394K possibly damaging Het
Dmgdh G T 13: 93,706,701 M348I probably benign Het
Dnajc13 G A 9: 104,174,426 S1744L possibly damaging Het
Dspp A T 5: 104,177,561 S597C unknown Het
Dync1h1 A T 12: 110,628,734 N1360I probably benign Het
Eepd1 A G 9: 25,603,412 H505R possibly damaging Het
Gcnt7 T C 2: 172,454,383 T174A possibly damaging Het
Gnb1 T C 4: 155,540,547 probably benign Het
Gpam A G 19: 55,071,016 S800P probably benign Het
Gsr T C 8: 33,694,996 probably benign Het
Herc2 A G 7: 56,155,130 K2302R probably benign Het
Hipk1 C A 3: 103,777,259 A347S possibly damaging Het
Iqgap2 T C 13: 95,731,434 N222S probably damaging Het
Marco T A 1: 120,494,795 M46L probably benign Het
Morc2b A T 17: 33,138,363 V145D probably damaging Het
Mprip C A 11: 59,696,163 P54Q probably damaging Het
Ndufv2 A T 17: 66,083,449 C175* probably null Het
Olfr1181 T C 2: 88,423,227 D266G probably damaging Het
Olfr272 A G 4: 52,910,835 *320Q probably null Het
Orc3 A C 4: 34,595,210 I195S probably damaging Het
Plxna2 T C 1: 194,804,945 S1603P probably damaging Het
Rlf A T 4: 121,148,330 I1151N probably benign Het
Scaper A G 9: 55,874,823 V283A probably benign Het
Sdccag3 A T 2: 26,387,676 probably benign Het
Slc25a43 A G X: 36,775,599 T270A probably benign Het
Slc35a5 A G 16: 45,143,781 V78A probably damaging Het
Smurf1 A T 5: 144,881,799 D636E probably benign Het
Tchhl1 A T 3: 93,470,275 E95D probably damaging Het
Tcp10a A G 17: 7,326,492 E72G possibly damaging Het
Tmem232 A G 17: 65,450,374 S275P probably damaging Het
Ugt1a5 T C 1: 88,166,818 F256S probably damaging Het
Vmn2r5 A G 3: 64,491,326 V744A probably benign Het
Vmn2r53 A T 7: 12,598,422 S433R probably benign Het
Vmn2r9 A T 5: 108,848,131 I217N probably damaging Het
Wdr83 G T 8: 85,080,587 A10E probably benign Het
Other mutations in Otos
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0766:Otos UTSW 1 92645351 missense probably damaging 1.00
R1868:Otos UTSW 1 92644463 missense probably damaging 1.00
R3027:Otos UTSW 1 92644354 missense probably damaging 1.00
R4922:Otos UTSW 1 92644368 missense probably damaging 0.99
R4954:Otos UTSW 1 92644445 missense probably damaging 0.99
R5100:Otos UTSW 1 92644385 missense probably damaging 1.00
R5152:Otos UTSW 1 92644394 missense probably damaging 1.00
R7388:Otos UTSW 1 92644519 critical splice acceptor site probably null
Posted On2016-08-02