Incidental Mutation 'IGL01924:Otoa'
ID 180230
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Otoa
Ensembl Gene ENSMUSG00000034990
Gene Name otoancorin
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01924
Quality Score
Status
Chromosome 7
Chromosomal Location 120682647-120762316 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 120705191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 244 (N244K)
Ref Sequence ENSEMBL: ENSMUSP00000044177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047025] [ENSMUST00000170106]
AlphaFold Q8K561
Predicted Effect probably damaging
Transcript: ENSMUST00000047025
AA Change: N244K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044177
Gene: ENSMUSG00000034990
AA Change: N244K

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 896 908 N/A INTRINSIC
low complexity region 1072 1089 N/A INTRINSIC
low complexity region 1124 1133 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170106
SMART Domains Protein: ENSMUSP00000133005
Gene: ENSMUSG00000034990

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is specifically expressed in the inner ear, and is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that this protein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in this gene are associated with autosomal recessive deafness type 22 (DFNB22). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hearing loss, detachment of the tectorial membrane from the spiral limbus, abnormal tectorial membrane morphology, absence of Hensen's stripe and increased cochlear nerve coumpond action potential threshold. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,362,047 (GRCm39) probably benign Het
Adamts13 A G 2: 26,886,595 (GRCm39) E938G possibly damaging Het
Aox1 C T 1: 58,326,902 (GRCm39) T167I possibly damaging Het
Apba3 G T 10: 81,108,907 (GRCm39) A557S probably benign Het
Atad2b T C 12: 5,084,093 (GRCm39) L1382P probably damaging Het
Atrn C T 2: 130,777,485 (GRCm39) T178I probably damaging Het
B4galnt1 A G 10: 127,002,630 (GRCm39) S88G probably benign Het
Baz2b T C 2: 59,765,615 (GRCm39) K887E probably damaging Het
Castor2 T C 5: 134,164,441 (GRCm39) F134S probably benign Het
Ccdc162 A C 10: 41,445,883 (GRCm39) F430V probably damaging Het
Cdc42bpb T A 12: 111,283,887 (GRCm39) probably benign Het
Cfhr4 G A 1: 139,666,944 (GRCm39) L444F probably damaging Het
Chit1 A G 1: 134,077,148 (GRCm39) D317G probably benign Het
Chrnb1 A T 11: 69,685,845 (GRCm39) probably benign Het
Cobl G T 11: 12,204,596 (GRCm39) T620K probably benign Het
Creld1 T C 6: 113,460,921 (GRCm39) F20L probably benign Het
Csmd2 A T 4: 128,453,740 (GRCm39) D3475V unknown Het
Cyp3a57 A G 5: 145,309,439 (GRCm39) D259G probably benign Het
Dbnl A G 11: 5,747,142 (GRCm39) Y224C probably damaging Het
Det1 A T 7: 78,493,571 (GRCm39) C144* probably null Het
Fbxo47 G T 11: 97,746,986 (GRCm39) A360D probably damaging Het
Frrs1 G A 3: 116,678,888 (GRCm39) G237R probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Gria2 T C 3: 80,617,638 (GRCm39) T372A probably benign Het
Hmcn2 A T 2: 31,288,929 (GRCm39) Q2246L probably benign Het
Ide T C 19: 37,249,563 (GRCm39) M930V unknown Het
Kdm5a T C 6: 120,371,216 (GRCm39) probably null Het
Khnyn A G 14: 56,132,426 (GRCm39) T625A probably benign Het
Lrrtm1 T C 6: 77,221,169 (GRCm39) F209L possibly damaging Het
Med13 C A 11: 86,199,522 (GRCm39) probably benign Het
Myom2 A G 8: 15,119,685 (GRCm39) E147G probably benign Het
Myrip T A 9: 120,217,330 (GRCm39) V88D probably damaging Het
Nbeal2 T C 9: 110,460,482 (GRCm39) H1784R probably benign Het
Nlrp4e T A 7: 23,020,255 (GRCm39) C247* probably null Het
Nup54 G A 5: 92,572,294 (GRCm39) P252L probably benign Het
Or51ag1 A G 7: 103,156,003 (GRCm39) I50T possibly damaging Het
Pbrm1 G A 14: 30,804,561 (GRCm39) R960H probably damaging Het
Ptcd3 A T 6: 71,875,411 (GRCm39) N190K probably damaging Het
Rhobtb1 T A 10: 69,106,134 (GRCm39) L233H probably damaging Het
Sec24c T A 14: 20,739,757 (GRCm39) F545I probably damaging Het
Slc6a15 T C 10: 103,240,686 (GRCm39) probably null Het
Slitrk1 G A 14: 109,148,671 (GRCm39) A680V probably benign Het
Smpd1 C T 7: 105,204,655 (GRCm39) S178L probably benign Het
Spindoc A G 19: 7,360,042 (GRCm39) L42P probably damaging Het
Tenm4 A G 7: 96,544,419 (GRCm39) E2145G probably damaging Het
Tmem144 G T 3: 79,746,501 (GRCm39) A18E probably damaging Het
Tmem213 A T 6: 38,086,373 (GRCm39) S10C possibly damaging Het
Trav6-3 A T 14: 53,667,800 (GRCm39) I102L probably benign Het
Trip11 T G 12: 101,853,143 (GRCm39) N483T possibly damaging Het
Unc13b C T 4: 43,239,385 (GRCm39) R1056* probably null Het
Wdr27 T G 17: 15,137,488 (GRCm39) K433N probably damaging Het
Wls C A 3: 159,607,080 (GRCm39) S189* probably null Het
Yeats2 A G 16: 20,024,917 (GRCm39) N706D probably damaging Het
Zbp1 A G 2: 173,054,047 (GRCm39) V158A probably benign Het
Zfp595 G T 13: 67,465,847 (GRCm39) H139N possibly damaging Het
Other mutations in Otoa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01469:Otoa APN 7 120,754,496 (GRCm39) critical splice donor site probably null
IGL01791:Otoa APN 7 120,755,072 (GRCm39) missense probably benign 0.25
IGL01953:Otoa APN 7 120,759,548 (GRCm39) splice site probably null
IGL02121:Otoa APN 7 120,721,247 (GRCm39) missense probably benign 0.06
IGL02303:Otoa APN 7 120,732,147 (GRCm39) critical splice donor site probably null
IGL02390:Otoa APN 7 120,730,590 (GRCm39) missense possibly damaging 0.84
IGL02591:Otoa APN 7 120,755,053 (GRCm39) missense probably damaging 1.00
IGL02811:Otoa APN 7 120,717,878 (GRCm39) missense possibly damaging 0.60
IGL02878:Otoa APN 7 120,743,076 (GRCm39) missense probably damaging 1.00
IGL03328:Otoa APN 7 120,710,217 (GRCm39) missense probably damaging 0.98
R0056:Otoa UTSW 7 120,730,570 (GRCm39) missense probably benign 0.00
R0279:Otoa UTSW 7 120,710,302 (GRCm39) splice site probably benign
R0390:Otoa UTSW 7 120,730,564 (GRCm39) missense probably benign 0.07
R0411:Otoa UTSW 7 120,755,750 (GRCm39) critical splice donor site probably null
R0628:Otoa UTSW 7 120,744,873 (GRCm39) splice site probably benign
R1113:Otoa UTSW 7 120,724,666 (GRCm39) nonsense probably null
R1240:Otoa UTSW 7 120,755,713 (GRCm39) missense probably benign
R1308:Otoa UTSW 7 120,724,666 (GRCm39) nonsense probably null
R1692:Otoa UTSW 7 120,690,774 (GRCm39) missense probably damaging 0.99
R1728:Otoa UTSW 7 120,724,662 (GRCm39) missense probably benign 0.36
R1729:Otoa UTSW 7 120,724,662 (GRCm39) missense probably benign 0.36
R1744:Otoa UTSW 7 120,726,999 (GRCm39) splice site probably benign
R1759:Otoa UTSW 7 120,733,326 (GRCm39) missense probably damaging 1.00
R1784:Otoa UTSW 7 120,724,662 (GRCm39) missense probably benign 0.36
R1817:Otoa UTSW 7 120,759,753 (GRCm39) utr 3 prime probably benign
R1961:Otoa UTSW 7 120,717,792 (GRCm39) missense probably benign 0.05
R2061:Otoa UTSW 7 120,730,551 (GRCm39) missense probably damaging 1.00
R2509:Otoa UTSW 7 120,759,695 (GRCm39) missense probably benign
R2510:Otoa UTSW 7 120,759,695 (GRCm39) missense probably benign
R3411:Otoa UTSW 7 120,721,266 (GRCm39) missense probably damaging 1.00
R3438:Otoa UTSW 7 120,759,566 (GRCm39) missense possibly damaging 0.80
R3905:Otoa UTSW 7 120,724,788 (GRCm39) missense probably damaging 1.00
R3907:Otoa UTSW 7 120,724,788 (GRCm39) missense probably damaging 1.00
R4613:Otoa UTSW 7 120,744,791 (GRCm39) missense probably damaging 1.00
R4751:Otoa UTSW 7 120,732,147 (GRCm39) critical splice donor site probably benign
R4896:Otoa UTSW 7 120,701,902 (GRCm39) missense probably damaging 1.00
R4932:Otoa UTSW 7 120,754,358 (GRCm39) missense probably damaging 0.98
R5224:Otoa UTSW 7 120,739,016 (GRCm39) missense probably damaging 0.98
R5235:Otoa UTSW 7 120,755,693 (GRCm39) missense probably damaging 1.00
R5595:Otoa UTSW 7 120,721,200 (GRCm39) missense probably damaging 1.00
R5891:Otoa UTSW 7 120,731,583 (GRCm39) splice site probably null
R5894:Otoa UTSW 7 120,721,092 (GRCm39) missense probably damaging 1.00
R5905:Otoa UTSW 7 120,693,824 (GRCm39) missense probably damaging 1.00
R5976:Otoa UTSW 7 120,726,936 (GRCm39) missense probably benign 0.00
R6464:Otoa UTSW 7 120,701,828 (GRCm39) missense probably damaging 1.00
R6761:Otoa UTSW 7 120,721,173 (GRCm39) missense probably damaging 1.00
R6770:Otoa UTSW 7 120,744,837 (GRCm39) missense probably benign 0.25
R6821:Otoa UTSW 7 120,692,070 (GRCm39) critical splice donor site probably null
R6924:Otoa UTSW 7 120,730,724 (GRCm39) splice site probably null
R7016:Otoa UTSW 7 120,746,989 (GRCm39) missense probably damaging 0.99
R7215:Otoa UTSW 7 120,717,795 (GRCm39) missense unknown
R7313:Otoa UTSW 7 120,701,765 (GRCm39) missense probably benign 0.42
R7340:Otoa UTSW 7 120,729,288 (GRCm39) missense probably benign 0.38
R7443:Otoa UTSW 7 120,731,633 (GRCm39) missense probably benign 0.00
R7559:Otoa UTSW 7 120,743,149 (GRCm39) missense probably damaging 0.99
R7640:Otoa UTSW 7 120,744,849 (GRCm39) missense probably damaging 1.00
R7654:Otoa UTSW 7 120,746,923 (GRCm39) missense probably damaging 1.00
R7659:Otoa UTSW 7 120,733,267 (GRCm39) missense probably benign 0.01
R8421:Otoa UTSW 7 120,698,491 (GRCm39) critical splice donor site probably null
R8799:Otoa UTSW 7 120,691,894 (GRCm39) missense possibly damaging 0.56
R8954:Otoa UTSW 7 120,744,741 (GRCm39) nonsense probably null
R9099:Otoa UTSW 7 120,739,055 (GRCm39) missense probably benign
R9126:Otoa UTSW 7 120,693,845 (GRCm39) missense probably damaging 1.00
R9369:Otoa UTSW 7 120,744,840 (GRCm39) missense probably benign 0.23
U24488:Otoa UTSW 7 120,717,763 (GRCm39) critical splice acceptor site probably null
X0023:Otoa UTSW 7 120,717,794 (GRCm39) missense probably benign 0.00
Z1177:Otoa UTSW 7 120,717,878 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07