Incidental Mutation 'IGL00159:Otof'
ID 1666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Otof
Ensembl Gene ENSMUSG00000062372
Gene Name otoferlin
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # IGL00159
Quality Score
Status
Chromosome 5
Chromosomal Location 30367062-30461932 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30375904 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1527 (Y1527C)
Ref Sequence ENSEMBL: ENSMUSP00000110395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074171] [ENSMUST00000114747]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000074171
AA Change: Y1532C

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073803
Gene: ENSMUSG00000062372
AA Change: Y1532C

DomainStartEndE-ValueType
C2 2 97 6.83e-1 SMART
C2 254 352 3.76e-11 SMART
FerI 338 409 7.91e-38 SMART
C2 417 528 1.75e-11 SMART
low complexity region 607 618 N/A INTRINSIC
FerB 841 917 5.13e-46 SMART
C2 960 1067 1.77e-7 SMART
low complexity region 1191 1202 N/A INTRINSIC
low complexity region 1265 1276 N/A INTRINSIC
low complexity region 1293 1323 N/A INTRINSIC
low complexity region 1370 1385 N/A INTRINSIC
low complexity region 1436 1447 N/A INTRINSIC
C2 1493 1592 6.54e-11 SMART
C2 1733 1863 4.02e0 SMART
Pfam:Ferlin_C 1895 1994 7.2e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114747
AA Change: Y1527C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110395
Gene: ENSMUSG00000062372
AA Change: Y1527C

DomainStartEndE-ValueType
C2 2 97 6.83e-1 SMART
C2 269 367 3.76e-11 SMART
FerI 353 424 7.91e-38 SMART
C2 432 543 1.75e-11 SMART
low complexity region 622 633 N/A INTRINSIC
FerB 856 932 5.13e-46 SMART
C2 975 1082 1.77e-7 SMART
Pfam:C2 1153 1236 1.8e-1 PFAM
low complexity region 1260 1271 N/A INTRINSIC
low complexity region 1288 1318 N/A INTRINSIC
low complexity region 1365 1380 N/A INTRINSIC
low complexity region 1431 1442 N/A INTRINSIC
C2 1488 1587 6.54e-11 SMART
C2 1728 1858 4.02e0 SMART
low complexity region 1903 1915 N/A INTRINSIC
transmembrane domain 1959 1981 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144125
SMART Domains Protein: ENSMUSP00000120679
Gene: ENSMUSG00000062372

DomainStartEndE-ValueType
C2 2 97 6.83e-1 SMART
C2 254 352 3.76e-11 SMART
FerI 338 409 7.91e-38 SMART
C2 417 528 1.75e-11 SMART
low complexity region 607 618 N/A INTRINSIC
FerB 841 917 5.13e-46 SMART
C2 960 1067 1.77e-7 SMART
low complexity region 1191 1202 N/A INTRINSIC
low complexity region 1265 1276 N/A INTRINSIC
low complexity region 1293 1323 N/A INTRINSIC
low complexity region 1370 1385 N/A INTRINSIC
low complexity region 1436 1447 N/A INTRINSIC
C2 1493 1592 6.54e-11 SMART
C2 1733 1863 4.02e0 SMART
Pfam:Ferlin_C 1895 1994 7.2e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150734
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik G A 7: 118,797,047 (GRCm38) probably null Het
Axin1 A T 17: 26,142,805 (GRCm38) D41V possibly damaging Het
BC034090 C A 1: 155,225,451 (GRCm38) E718* probably null Het
Cdc123 G T 2: 5,804,935 (GRCm38) Q222K probably benign Het
Clip1 A C 5: 123,603,654 (GRCm38) V1053G possibly damaging Het
Dock7 T A 4: 99,063,985 (GRCm38) E416V probably damaging Het
Dydc1 T C 14: 41,087,413 (GRCm38) L143P probably damaging Het
Dync2h1 A G 9: 7,158,839 (GRCm38) V732A probably benign Het
Dzip1l T A 9: 99,637,777 (GRCm38) L119Q probably damaging Het
Erp27 T A 6: 136,909,502 (GRCm38) S178C probably damaging Het
Fbn1 A G 2: 125,397,873 (GRCm38) V298A probably benign Het
Fbxo34 A G 14: 47,529,474 (GRCm38) H97R probably damaging Het
Gm20521 C T 14: 54,884,622 (GRCm38) Q81* probably null Het
Gspt1 T C 16: 11,222,612 (GRCm38) M610V probably damaging Het
Herc1 A G 9: 66,437,682 (GRCm38) Q1919R possibly damaging Het
Il19 A G 1: 130,935,055 (GRCm38) probably benign Het
Kif14 G A 1: 136,469,018 (GRCm38) S354N probably benign Het
Lrrk2 A G 15: 91,747,799 (GRCm38) K1309E possibly damaging Het
Lurap1 T C 4: 116,137,690 (GRCm38) T115A probably damaging Het
Myo18b G T 5: 112,874,131 (GRCm38) T465K probably benign Het
Nwd1 A T 8: 72,671,077 (GRCm38) D648V probably damaging Het
Olfr272 T G 4: 52,911,618 (GRCm38) M59L possibly damaging Het
Olfr520 G A 7: 99,735,317 (GRCm38) R58H probably benign Het
Otop3 G A 11: 115,344,397 (GRCm38) C285Y probably damaging Het
Parp3 A G 9: 106,471,387 (GRCm38) I478T probably benign Het
Pdzd2 C T 15: 12,457,983 (GRCm38) E265K possibly damaging Het
Pik3c2g T C 6: 139,896,125 (GRCm38) L634P probably damaging Het
Prkg1 C A 19: 31,302,340 (GRCm38) V165L probably benign Het
Riok3 A G 18: 12,148,891 (GRCm38) I306V possibly damaging Het
Ror2 T C 13: 53,113,082 (GRCm38) D439G probably benign Het
Scn2a T A 2: 65,743,090 (GRCm38) I1428N probably damaging Het
Sgcg C T 14: 61,232,475 (GRCm38) D146N probably benign Het
Slc16a9 A G 10: 70,282,699 (GRCm38) R283G probably benign Het
Sptb T C 12: 76,621,331 (GRCm38) D664G probably benign Het
Tmprss3 T A 17: 31,195,008 (GRCm38) D54V probably damaging Het
Ttc37 T C 13: 76,143,278 (GRCm38) probably null Het
Tubd1 G T 11: 86,565,729 (GRCm38) V374F probably benign Het
Vmn2r57 A T 7: 41,428,785 (GRCm38) M83K probably benign Het
Vps13c A G 9: 67,945,999 (GRCm38) E2458G probably benign Het
Zhx2 A T 15: 57,822,870 (GRCm38) E545V probably damaging Het
Other mutations in Otof
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Otof APN 5 30,375,623 (GRCm38) missense probably damaging 1.00
IGL00579:Otof APN 5 30,399,322 (GRCm38) missense possibly damaging 0.88
IGL00671:Otof APN 5 30,385,753 (GRCm38) critical splice donor site probably null
IGL01019:Otof APN 5 30,405,216 (GRCm38) missense probably benign 0.01
IGL01025:Otof APN 5 30,384,253 (GRCm38) missense possibly damaging 0.82
IGL01086:Otof APN 5 30,376,273 (GRCm38) critical splice donor site probably null
IGL01110:Otof APN 5 30,461,725 (GRCm38) missense probably damaging 1.00
IGL01160:Otof APN 5 30,381,535 (GRCm38) missense probably benign 0.00
IGL01285:Otof APN 5 30,405,183 (GRCm38) missense probably damaging 1.00
IGL01329:Otof APN 5 30,441,379 (GRCm38) missense probably benign 0.00
IGL01337:Otof APN 5 30,419,512 (GRCm38) missense probably benign 0.17
IGL01337:Otof APN 5 30,405,777 (GRCm38) missense possibly damaging 0.93
IGL01834:Otof APN 5 30,399,220 (GRCm38) missense probably damaging 1.00
IGL01872:Otof APN 5 30,379,254 (GRCm38) splice site probably benign
IGL01969:Otof APN 5 30,382,483 (GRCm38) splice site probably benign
IGL02075:Otof APN 5 30,370,726 (GRCm38) missense probably benign 0.23
IGL02077:Otof APN 5 30,399,235 (GRCm38) missense probably damaging 1.00
IGL02136:Otof APN 5 30,373,992 (GRCm38) missense possibly damaging 0.90
IGL02227:Otof APN 5 30,370,784 (GRCm38) missense probably damaging 1.00
IGL02475:Otof APN 5 30,376,682 (GRCm38) missense probably damaging 1.00
IGL02812:Otof APN 5 30,374,082 (GRCm38) missense probably benign 0.08
IGL02864:Otof APN 5 30,386,341 (GRCm38) missense probably damaging 0.99
IGL03176:Otof APN 5 30,405,176 (GRCm38) splice site probably null
R0285:Otof UTSW 5 30,379,533 (GRCm38) critical splice donor site probably null
R0421:Otof UTSW 5 30,371,568 (GRCm38) missense possibly damaging 0.94
R0570:Otof UTSW 5 30,371,881 (GRCm38) splice site probably benign
R0599:Otof UTSW 5 30,370,705 (GRCm38) missense probably damaging 1.00
R0675:Otof UTSW 5 30,382,361 (GRCm38) missense probably benign 0.01
R0715:Otof UTSW 5 30,394,697 (GRCm38) missense probably damaging 0.99
R1019:Otof UTSW 5 30,370,743 (GRCm38) missense probably damaging 0.96
R1183:Otof UTSW 5 30,371,912 (GRCm38) missense probably damaging 1.00
R1435:Otof UTSW 5 30,378,695 (GRCm38) missense probably benign 0.00
R1469:Otof UTSW 5 30,380,227 (GRCm38) missense probably benign 0.00
R1469:Otof UTSW 5 30,380,227 (GRCm38) missense probably benign 0.00
R1474:Otof UTSW 5 30,379,532 (GRCm38) critical splice donor site probably null
R1524:Otof UTSW 5 30,379,556 (GRCm38) missense probably benign 0.03
R1563:Otof UTSW 5 30,371,005 (GRCm38) missense probably benign 0.00
R1732:Otof UTSW 5 30,386,471 (GRCm38) missense probably damaging 1.00
R1822:Otof UTSW 5 30,378,710 (GRCm38) missense probably benign 0.00
R1845:Otof UTSW 5 30,371,723 (GRCm38) nonsense probably null
R1925:Otof UTSW 5 30,394,188 (GRCm38) missense probably benign 0.37
R1938:Otof UTSW 5 30,376,369 (GRCm38) missense probably benign 0.00
R1968:Otof UTSW 5 30,388,654 (GRCm38) missense probably damaging 1.00
R1996:Otof UTSW 5 30,421,037 (GRCm38) missense probably benign 0.01
R1999:Otof UTSW 5 30,388,772 (GRCm38) missense probably benign 0.19
R2027:Otof UTSW 5 30,421,014 (GRCm38) missense probably benign 0.08
R2138:Otof UTSW 5 30,461,770 (GRCm38) missense probably benign 0.01
R2173:Otof UTSW 5 30,386,374 (GRCm38) missense probably damaging 1.00
R2245:Otof UTSW 5 30,370,207 (GRCm38) missense probably damaging 1.00
R3011:Otof UTSW 5 30,382,840 (GRCm38) missense probably damaging 1.00
R3105:Otof UTSW 5 30,381,801 (GRCm38) missense probably benign 0.03
R3442:Otof UTSW 5 30,371,689 (GRCm38) missense probably damaging 1.00
R3710:Otof UTSW 5 30,385,266 (GRCm38) missense probably benign
R3715:Otof UTSW 5 30,376,871 (GRCm38) nonsense probably null
R3806:Otof UTSW 5 30,386,499 (GRCm38) critical splice acceptor site probably null
R3975:Otof UTSW 5 30,370,712 (GRCm38) missense probably damaging 1.00
R4067:Otof UTSW 5 30,399,291 (GRCm38) missense probably damaging 1.00
R4077:Otof UTSW 5 30,419,506 (GRCm38) missense possibly damaging 0.89
R4166:Otof UTSW 5 30,382,418 (GRCm38) missense probably damaging 1.00
R4451:Otof UTSW 5 30,385,164 (GRCm38) missense possibly damaging 0.77
R4485:Otof UTSW 5 30,375,000 (GRCm38) missense possibly damaging 0.77
R4600:Otof UTSW 5 30,371,900 (GRCm38) missense probably damaging 1.00
R4646:Otof UTSW 5 30,383,570 (GRCm38) missense possibly damaging 0.82
R4648:Otof UTSW 5 30,383,570 (GRCm38) missense possibly damaging 0.82
R4669:Otof UTSW 5 30,420,974 (GRCm38) critical splice donor site probably null
R4773:Otof UTSW 5 30,394,682 (GRCm38) missense probably benign 0.05
R4839:Otof UTSW 5 30,419,404 (GRCm38) missense probably damaging 0.99
R4907:Otof UTSW 5 30,378,661 (GRCm38) critical splice donor site probably null
R4961:Otof UTSW 5 30,383,493 (GRCm38) intron probably benign
R4991:Otof UTSW 5 30,394,181 (GRCm38) missense probably damaging 1.00
R5015:Otof UTSW 5 30,382,894 (GRCm38) missense probably damaging 1.00
R5036:Otof UTSW 5 30,384,439 (GRCm38) missense possibly damaging 0.54
R5038:Otof UTSW 5 30,384,439 (GRCm38) missense possibly damaging 0.54
R5253:Otof UTSW 5 30,370,139 (GRCm38) missense probably damaging 1.00
R5336:Otof UTSW 5 30,376,720 (GRCm38) missense probably benign 0.01
R5365:Otof UTSW 5 30,381,800 (GRCm38) missense probably damaging 0.99
R5901:Otof UTSW 5 30,374,979 (GRCm38) missense probably damaging 1.00
R6211:Otof UTSW 5 30,371,900 (GRCm38) missense probably damaging 0.99
R6318:Otof UTSW 5 30,414,544 (GRCm38) missense probably damaging 1.00
R6331:Otof UTSW 5 30,371,935 (GRCm38) missense possibly damaging 0.94
R6671:Otof UTSW 5 30,419,533 (GRCm38) missense probably benign
R6701:Otof UTSW 5 30,370,797 (GRCm38) nonsense probably null
R6792:Otof UTSW 5 30,375,634 (GRCm38) missense probably damaging 1.00
R6853:Otof UTSW 5 30,388,239 (GRCm38) missense probably damaging 1.00
R6940:Otof UTSW 5 30,371,643 (GRCm38) missense probably damaging 0.96
R7037:Otof UTSW 5 30,381,538 (GRCm38) missense probably benign 0.32
R7060:Otof UTSW 5 30,388,356 (GRCm38) missense possibly damaging 0.84
R7089:Otof UTSW 5 30,371,568 (GRCm38) missense possibly damaging 0.94
R7165:Otof UTSW 5 30,375,620 (GRCm38) missense probably damaging 0.99
R7178:Otof UTSW 5 30,383,534 (GRCm38) missense possibly damaging 0.50
R7298:Otof UTSW 5 30,388,270 (GRCm38) missense probably damaging 1.00
R7393:Otof UTSW 5 30,370,270 (GRCm38) missense probably benign 0.45
R7397:Otof UTSW 5 30,375,707 (GRCm38) missense probably damaging 1.00
R7400:Otof UTSW 5 30,385,188 (GRCm38) missense probably benign 0.04
R7428:Otof UTSW 5 30,389,825 (GRCm38) missense probably damaging 1.00
R7456:Otof UTSW 5 30,394,661 (GRCm38) missense probably damaging 1.00
R7505:Otof UTSW 5 30,371,020 (GRCm38) missense probably benign 0.00
R7714:Otof UTSW 5 30,370,253 (GRCm38) missense probably damaging 0.99
R8002:Otof UTSW 5 30,380,610 (GRCm38) missense probably benign 0.10
R8032:Otof UTSW 5 30,461,798 (GRCm38) start codon destroyed probably benign 0.07
R8153:Otof UTSW 5 30,388,735 (GRCm38) missense probably damaging 1.00
R8158:Otof UTSW 5 30,380,194 (GRCm38) missense probably benign 0.37
R8159:Otof UTSW 5 30,380,194 (GRCm38) missense probably benign 0.37
R8441:Otof UTSW 5 30,380,856 (GRCm38) missense probably damaging 0.99
R8738:Otof UTSW 5 30,388,624 (GRCm38) nonsense probably null
R8813:Otof UTSW 5 30,382,898 (GRCm38) missense probably benign 0.02
R8835:Otof UTSW 5 30,370,920 (GRCm38) missense probably benign 0.44
R8852:Otof UTSW 5 30,371,700 (GRCm38) missense possibly damaging 0.94
R8869:Otof UTSW 5 30,420,981 (GRCm38) missense probably benign 0.08
R9029:Otof UTSW 5 30,370,075 (GRCm38) critical splice donor site probably null
R9031:Otof UTSW 5 30,380,188 (GRCm38) missense probably benign
R9061:Otof UTSW 5 30,388,657 (GRCm38) missense possibly damaging 0.50
R9100:Otof UTSW 5 30,382,352 (GRCm38) missense possibly damaging 0.80
R9121:Otof UTSW 5 30,379,118 (GRCm38) missense probably benign 0.04
R9188:Otof UTSW 5 30,376,751 (GRCm38) missense probably damaging 1.00
R9218:Otof UTSW 5 30,385,125 (GRCm38) missense probably benign
R9280:Otof UTSW 5 30,371,550 (GRCm38) missense probably damaging 0.98
R9395:Otof UTSW 5 30,375,632 (GRCm38) missense probably damaging 1.00
R9400:Otof UTSW 5 30,383,519 (GRCm38) critical splice donor site probably null
R9407:Otof UTSW 5 30,380,921 (GRCm38) missense probably damaging 1.00
R9616:Otof UTSW 5 30,382,364 (GRCm38) missense possibly damaging 0.95
R9665:Otof UTSW 5 30,427,551 (GRCm38) missense probably benign 0.22
R9748:Otof UTSW 5 30,383,654 (GRCm38) missense probably damaging 1.00
R9783:Otof UTSW 5 30,379,232 (GRCm38) missense probably benign
Z1176:Otof UTSW 5 30,371,586 (GRCm38) missense probably damaging 0.98
Z1177:Otof UTSW 5 30,383,658 (GRCm38) missense probably damaging 1.00
Z1177:Otof UTSW 5 30,376,297 (GRCm38) missense probably damaging 1.00
Posted On 2011-07-12