Incidental Mutation 'IGL03328:Otoa'
ID 416720
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 # IGL03328
Quality Score
Status
Chromosome 7
Chromosomal Location 120682647-120762316 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120710217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 254 (S254R)
Ref Sequence ENSEMBL: ENSMUSP00000044177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047025]
AlphaFold Q8K561
Predicted Effect probably damaging
Transcript: ENSMUST00000047025
AA Change: S254R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044177
Gene: ENSMUSG00000034990
AA Change: S254R

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
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,211,355 (GRCm39) M1556L probably benign Het
Aicda T G 6: 122,539,396 (GRCm39) D187E probably benign Het
Arfgap3 A C 15: 83,227,282 (GRCm39) F43L probably damaging Het
AW551984 T C 9: 39,508,412 (GRCm39) E368G probably damaging Het
Bbs4 T C 9: 59,251,401 (GRCm39) E33G probably damaging Het
Bcas1 T A 2: 170,208,316 (GRCm39) K437* probably null Het
Brwd1 A T 16: 95,803,925 (GRCm39) W2082R probably damaging Het
Card6 A T 15: 5,134,927 (GRCm39) probably benign Het
Cd200r4 A G 16: 44,653,882 (GRCm39) I226M possibly damaging Het
Cep57l1 T C 10: 41,619,148 (GRCm39) E73G probably damaging Het
Chaf1a T G 17: 56,370,374 (GRCm39) F613C probably damaging Het
Clybl G T 14: 122,639,406 (GRCm39) K323N probably damaging Het
Coa7 A G 4: 108,195,479 (GRCm39) D136G probably damaging Het
Col5a2 C A 1: 45,415,306 (GRCm39) V1478L possibly damaging Het
Ctnnd2 T C 15: 30,921,993 (GRCm39) probably benign Het
Cyp4f17 T G 17: 32,739,600 (GRCm39) M174R probably damaging Het
Dnah10 A T 5: 124,831,354 (GRCm39) D794V probably benign Het
Eapp A G 12: 54,738,878 (GRCm39) S87P probably benign Het
Efnb3 A G 11: 69,448,031 (GRCm39) I137T probably damaging Het
Eif4e T A 3: 138,259,488 (GRCm39) probably benign Het
Fam83b T A 9: 76,400,324 (GRCm39) I260L probably benign Het
Fras1 A G 5: 96,929,619 (GRCm39) T4008A probably damaging Het
Fut8 A T 12: 77,412,003 (GRCm39) R118W probably damaging Het
Glt1d1 A C 5: 127,734,183 (GRCm39) D119A probably benign Het
Gm3727 T A 14: 7,261,685 (GRCm38) *206C probably null Het
Gmip G A 8: 70,264,261 (GRCm39) V174M possibly damaging Het
Gtf2ird1 A G 5: 134,417,983 (GRCm39) probably null Het
Haao C T 17: 84,154,078 (GRCm39) C23Y probably damaging Het
Hip1 A T 5: 135,453,728 (GRCm39) V400E probably damaging Het
Keg1 A G 19: 12,696,461 (GRCm39) N215S probably damaging Het
Lss T G 10: 76,376,785 (GRCm39) I334S probably damaging Het
Lyn A C 4: 3,745,327 (GRCm39) E77D probably benign Het
Myo3a A G 2: 22,468,210 (GRCm39) E1426G probably benign Het
Ncapg2 A G 12: 116,403,677 (GRCm39) E863G possibly damaging Het
Ncl T C 1: 86,280,319 (GRCm39) Y496C probably damaging Het
Nefm A T 14: 68,358,739 (GRCm39) S432T probably benign Het
Nipsnap1 A G 11: 4,834,096 (GRCm39) Y95C possibly damaging Het
Npc1l1 C A 11: 6,168,643 (GRCm39) E913* probably null Het
Nup205 T C 6: 35,209,349 (GRCm39) L1552P probably damaging Het
Or2t46 A G 11: 58,472,539 (GRCm39) N290D probably damaging Het
Or4c112 G T 2: 88,854,199 (GRCm39) Y49* probably null Het
Or52h7 T A 7: 104,213,677 (GRCm39) V83D probably damaging Het
Or7c70 C T 10: 78,683,201 (GRCm39) E183K probably benign Het
Osm A C 11: 4,188,426 (GRCm39) I18L unknown Het
Parp1 T C 1: 180,427,155 (GRCm39) probably benign Het
Pcdh17 A G 14: 84,770,551 (GRCm39) I1010V probably benign Het
Peli2 A T 14: 48,490,032 (GRCm39) probably null Het
Pkd1l3 T G 8: 110,388,738 (GRCm39) probably benign Het
Pkhd1 A G 1: 20,151,524 (GRCm39) probably benign Het
Polg2 A C 11: 106,659,163 (GRCm39) V450G probably benign Het
Potegl A T 2: 23,102,817 (GRCm39) Y185F possibly damaging Het
Ptpn13 A T 5: 103,664,214 (GRCm39) T401S probably benign Het
Rgs22 C T 15: 36,043,350 (GRCm39) probably null Het
Rttn T G 18: 89,061,152 (GRCm39) S1107A probably benign Het
Scn5a G T 9: 119,366,702 (GRCm39) N328K probably benign Het
Sned1 G A 1: 93,217,089 (GRCm39) A1325T probably benign Het
St8sia4 T A 1: 95,588,595 (GRCm39) E80V probably benign Het
Stard7 T C 2: 127,134,176 (GRCm39) probably benign Het
Suco G T 1: 161,647,990 (GRCm39) P1099T probably damaging Het
Syn2 G T 6: 115,251,221 (GRCm39) C459F probably damaging Het
Tas2r117 A C 6: 132,780,041 (GRCm39) I60L probably benign Het
Tomm70a T C 16: 56,965,150 (GRCm39) C445R probably damaging Het
Tpsab1 T A 17: 25,564,102 (GRCm39) D87V probably benign Het
Trgc4 A G 13: 19,536,416 (GRCm39) Y158C unknown Het
Trpm6 A T 19: 18,815,446 (GRCm39) E1177D possibly damaging Het
Vmn2r71 A T 7: 85,273,499 (GRCm39) D771V probably damaging Het
Vmn2r93 A T 17: 18,525,220 (GRCm39) T293S probably 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
IGL01924:Otoa APN 7 120,705,191 (GRCm39) missense probably damaging 0.99
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
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 2016-08-02