Incidental Mutation 'R9031:Otof'
ID 687048
Institutional Source Beutler Lab
Gene Symbol Otof
Ensembl Gene ENSMUSG00000062372
Gene Name otoferlin
Synonyms
MMRRC Submission 068860-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R9031 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 30524406-30619276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 30537532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 1259 (S1259F)
Ref Sequence ENSEMBL: ENSMUSP00000073803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074171] [ENSMUST00000114747]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000074171
AA Change: S1259F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073803
Gene: ENSMUSG00000062372
AA Change: S1259F

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 benign
Transcript: ENSMUST00000114747
SMART Domains Protein: ENSMUSP00000110395
Gene: ENSMUSG00000062372

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (81/81)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,810,466 (GRCm39) R921H probably benign Het
Adcy5 A G 16: 35,119,859 (GRCm39) I1123V probably damaging Het
Agr2 G C 12: 36,045,565 (GRCm39) G17A probably benign Het
Akap6 A T 12: 53,188,831 (GRCm39) T2082S probably benign Het
Asxl3 G T 18: 22,657,401 (GRCm39) V1804F probably damaging Het
Atat1 A G 17: 36,220,381 (GRCm39) V37A probably benign Het
Atp1a3 A T 7: 24,689,212 (GRCm39) probably null Het
Bpifb1 A G 2: 154,051,848 (GRCm39) T218A probably benign Het
C030006K11Rik T A 15: 76,607,961 (GRCm39) Q19L probably benign Het
Ccdc138 T C 10: 58,380,893 (GRCm39) F508S probably damaging Het
Ccdc81 T A 7: 89,542,358 (GRCm39) M173L probably benign Het
Cdhr1 T C 14: 36,815,976 (GRCm39) I141V probably benign Het
Chia1 T C 3: 106,035,777 (GRCm39) F206L probably benign Het
Clca3a2 C T 3: 144,511,475 (GRCm39) G640E probably damaging Het
Clcn7 T C 17: 25,376,497 (GRCm39) V609A probably damaging Het
Cmklr2 T C 1: 63,223,145 (GRCm39) E30G probably benign Het
Col22a1 C A 15: 71,753,523 (GRCm39) G126* probably null Het
Cpne7 C T 8: 123,856,951 (GRCm39) P402L probably damaging Het
Ctcfl A T 2: 172,959,044 (GRCm39) D227E probably benign Het
Cwf19l2 A G 9: 3,417,942 (GRCm39) D134G probably benign Het
Cyp2c65 C A 19: 39,061,663 (GRCm39) C216* probably null Het
Cyp2d12 T A 15: 82,443,423 (GRCm39) C462S probably null Het
Cyp4a12a A C 4: 115,189,199 (GRCm39) *509Y probably null Het
Cyp4a12b A G 4: 115,290,865 (GRCm39) M298V probably benign Het
Dennd4b T C 3: 90,178,188 (GRCm39) V471A probably benign Het
Dlc1 A G 8: 37,405,055 (GRCm39) S245P possibly damaging Het
Dnah1 C T 14: 31,001,128 (GRCm39) G2406S probably benign Het
Dnah8 A G 17: 30,956,401 (GRCm39) K2127R probably damaging Het
Dusp13b G A 14: 21,790,233 (GRCm39) R38C probably benign Het
Ebf2 T A 14: 67,472,594 (GRCm39) I4N probably benign Het
Eef1ece2 C T 16: 20,459,375 (GRCm39) P570L probably damaging Het
Fcgbp A G 7: 27,790,908 (GRCm39) N723S possibly damaging Het
Galnt15 T A 14: 31,770,027 (GRCm39) V368E probably damaging Het
Garem2 A G 5: 30,313,262 (GRCm39) E42G possibly damaging Het
Gcc1 C T 6: 28,418,182 (GRCm39) S717N probably damaging Het
Gfm2 T C 13: 97,309,201 (GRCm39) probably null Het
Helb T C 10: 119,920,790 (GRCm39) D1051G possibly damaging Het
Helz2 T A 2: 180,874,261 (GRCm39) I2078F possibly damaging Het
Hsph1 A T 5: 149,553,270 (GRCm39) V297D probably damaging Het
Ifnar1 A G 16: 91,302,079 (GRCm39) Y518C probably benign Het
Kcnip2 T A 19: 45,783,210 (GRCm39) D153V probably damaging Het
Kif15 A T 9: 122,846,492 (GRCm39) probably benign Het
Kif21b T C 1: 136,073,042 (GRCm39) F147L probably damaging Het
Klhl29 T C 12: 5,140,537 (GRCm39) R702G probably damaging Het
Lemd3 C T 10: 120,767,878 (GRCm39) E667K possibly damaging Het
Loxl3 T C 6: 83,012,503 (GRCm39) L14P probably damaging Het
Lrrd1 A T 5: 3,900,963 (GRCm39) K423* probably null Het
Mia2 A G 12: 59,155,586 (GRCm39) D433G probably damaging Het
Mpp2 G T 11: 101,954,099 (GRCm39) A216E probably benign Het
Mro T C 18: 74,009,911 (GRCm39) probably null Het
Mybpc1 T G 10: 88,358,906 (GRCm39) Y1081S probably damaging Het
Myh8 T G 11: 67,190,141 (GRCm39) S1260R possibly damaging Het
Myo3b T C 2: 70,082,094 (GRCm39) V618A probably damaging Het
Naip2 T G 13: 100,314,776 (GRCm39) D334A possibly damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nlrp4c T C 7: 6,107,608 (GRCm39) *983Q probably null Het
Nlrp9a T G 7: 26,257,698 (GRCm39) F439V probably damaging Het
Nploc4 A T 11: 120,319,368 (GRCm39) L64H probably damaging Het
Ola1 T C 2: 72,924,060 (GRCm39) E246G probably benign Het
Pde4dip T C 3: 97,599,675 (GRCm39) T2438A probably damaging Het
Pex1 A G 5: 3,686,844 (GRCm39) T1242A probably damaging Het
Pink1 A T 4: 138,043,056 (GRCm39) probably benign Het
Prkcq A G 2: 11,251,819 (GRCm39) T219A probably damaging Het
Ptcd3 A T 6: 71,880,458 (GRCm39) Y88* probably null Het
Ptpru A G 4: 131,515,691 (GRCm39) Y888H probably damaging Het
Rapgef6 A G 11: 54,578,667 (GRCm39) N1063S probably benign Het
Slc1a4 G A 11: 20,282,532 (GRCm39) probably benign Het
Slc4a4 T C 5: 89,205,568 (GRCm39) probably benign Het
Slc6a18 A T 13: 73,819,822 (GRCm39) N249K possibly damaging Het
Slco2b1 T G 7: 99,338,214 (GRCm39) I104L probably damaging Het
Syne3 A T 12: 104,905,871 (GRCm39) S897R probably benign Het
Tlcd5 C T 9: 43,022,664 (GRCm39) R230Q probably benign Het
Tnni3k A G 3: 154,744,146 (GRCm39) S69P probably damaging Het
Tnpo2 A G 8: 85,780,163 (GRCm39) K700E probably benign Het
Top3a T C 11: 60,636,695 (GRCm39) K657E probably damaging Het
Trgv4 C T 13: 19,369,169 (GRCm39) Q7* probably null Het
Trim6 T C 7: 103,875,159 (GRCm39) L132P probably damaging Het
Tshz1 T C 18: 84,032,987 (GRCm39) T474A probably benign Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Vmn1r179 A T 7: 23,628,234 (GRCm39) I142L probably benign Het
Zbtb2 A T 10: 4,319,183 (GRCm39) F281Y probably damaging Het
Zfp318 T C 17: 46,723,433 (GRCm39) V1812A probably benign Het
Other mutations in Otof
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Otof APN 5 30,533,248 (GRCm39) missense probably damaging 1.00
IGL00391:Otof APN 5 30,532,967 (GRCm39) missense probably damaging 1.00
IGL00579:Otof APN 5 30,556,666 (GRCm39) missense possibly damaging 0.88
IGL00671:Otof APN 5 30,543,097 (GRCm39) critical splice donor site probably null
IGL01019:Otof APN 5 30,562,560 (GRCm39) missense probably benign 0.01
IGL01025:Otof APN 5 30,541,597 (GRCm39) missense possibly damaging 0.82
IGL01086:Otof APN 5 30,533,617 (GRCm39) critical splice donor site probably null
IGL01110:Otof APN 5 30,619,069 (GRCm39) missense probably damaging 1.00
IGL01160:Otof APN 5 30,538,879 (GRCm39) missense probably benign 0.00
IGL01285:Otof APN 5 30,562,527 (GRCm39) missense probably damaging 1.00
IGL01329:Otof APN 5 30,598,723 (GRCm39) missense probably benign 0.00
IGL01337:Otof APN 5 30,576,856 (GRCm39) missense probably benign 0.17
IGL01337:Otof APN 5 30,563,121 (GRCm39) missense possibly damaging 0.93
IGL01834:Otof APN 5 30,556,564 (GRCm39) missense probably damaging 1.00
IGL01872:Otof APN 5 30,536,598 (GRCm39) splice site probably benign
IGL01969:Otof APN 5 30,539,827 (GRCm39) splice site probably benign
IGL02075:Otof APN 5 30,528,070 (GRCm39) missense probably benign 0.23
IGL02077:Otof APN 5 30,556,579 (GRCm39) missense probably damaging 1.00
IGL02136:Otof APN 5 30,531,336 (GRCm39) missense possibly damaging 0.90
IGL02227:Otof APN 5 30,528,128 (GRCm39) missense probably damaging 1.00
IGL02475:Otof APN 5 30,534,026 (GRCm39) missense probably damaging 1.00
IGL02812:Otof APN 5 30,531,426 (GRCm39) missense probably benign 0.08
IGL02864:Otof APN 5 30,543,685 (GRCm39) missense probably damaging 0.99
IGL03176:Otof APN 5 30,562,520 (GRCm39) splice site probably null
R0285:Otof UTSW 5 30,536,877 (GRCm39) critical splice donor site probably null
R0421:Otof UTSW 5 30,528,912 (GRCm39) missense possibly damaging 0.94
R0570:Otof UTSW 5 30,529,225 (GRCm39) splice site probably benign
R0599:Otof UTSW 5 30,528,049 (GRCm39) missense probably damaging 1.00
R0675:Otof UTSW 5 30,539,705 (GRCm39) missense probably benign 0.01
R0715:Otof UTSW 5 30,552,041 (GRCm39) missense probably damaging 0.99
R1019:Otof UTSW 5 30,528,087 (GRCm39) missense probably damaging 0.96
R1183:Otof UTSW 5 30,529,256 (GRCm39) missense probably damaging 1.00
R1435:Otof UTSW 5 30,536,039 (GRCm39) missense probably benign 0.00
R1469:Otof UTSW 5 30,537,571 (GRCm39) missense probably benign 0.00
R1469:Otof UTSW 5 30,537,571 (GRCm39) missense probably benign 0.00
R1474:Otof UTSW 5 30,536,876 (GRCm39) critical splice donor site probably null
R1524:Otof UTSW 5 30,536,900 (GRCm39) missense probably benign 0.03
R1563:Otof UTSW 5 30,528,349 (GRCm39) missense probably benign 0.00
R1732:Otof UTSW 5 30,543,815 (GRCm39) missense probably damaging 1.00
R1822:Otof UTSW 5 30,536,054 (GRCm39) missense probably benign 0.00
R1845:Otof UTSW 5 30,529,067 (GRCm39) nonsense probably null
R1925:Otof UTSW 5 30,551,532 (GRCm39) missense probably benign 0.37
R1938:Otof UTSW 5 30,533,713 (GRCm39) missense probably benign 0.00
R1968:Otof UTSW 5 30,545,998 (GRCm39) missense probably damaging 1.00
R1996:Otof UTSW 5 30,578,381 (GRCm39) missense probably benign 0.01
R1999:Otof UTSW 5 30,546,116 (GRCm39) missense probably benign 0.19
R2027:Otof UTSW 5 30,578,358 (GRCm39) missense probably benign 0.08
R2138:Otof UTSW 5 30,619,114 (GRCm39) missense probably benign 0.01
R2173:Otof UTSW 5 30,543,718 (GRCm39) missense probably damaging 1.00
R2245:Otof UTSW 5 30,527,551 (GRCm39) missense probably damaging 1.00
R3011:Otof UTSW 5 30,540,184 (GRCm39) missense probably damaging 1.00
R3105:Otof UTSW 5 30,539,145 (GRCm39) missense probably benign 0.03
R3442:Otof UTSW 5 30,529,033 (GRCm39) missense probably damaging 1.00
R3710:Otof UTSW 5 30,542,610 (GRCm39) missense probably benign
R3715:Otof UTSW 5 30,534,215 (GRCm39) nonsense probably null
R3806:Otof UTSW 5 30,543,843 (GRCm39) critical splice acceptor site probably null
R3975:Otof UTSW 5 30,528,056 (GRCm39) missense probably damaging 1.00
R4067:Otof UTSW 5 30,556,635 (GRCm39) missense probably damaging 1.00
R4077:Otof UTSW 5 30,576,850 (GRCm39) missense possibly damaging 0.89
R4166:Otof UTSW 5 30,539,762 (GRCm39) missense probably damaging 1.00
R4451:Otof UTSW 5 30,542,508 (GRCm39) missense possibly damaging 0.77
R4485:Otof UTSW 5 30,532,344 (GRCm39) missense possibly damaging 0.77
R4600:Otof UTSW 5 30,529,244 (GRCm39) missense probably damaging 1.00
R4646:Otof UTSW 5 30,540,914 (GRCm39) missense possibly damaging 0.82
R4648:Otof UTSW 5 30,540,914 (GRCm39) missense possibly damaging 0.82
R4669:Otof UTSW 5 30,578,318 (GRCm39) critical splice donor site probably null
R4773:Otof UTSW 5 30,552,026 (GRCm39) missense probably benign 0.05
R4839:Otof UTSW 5 30,576,748 (GRCm39) missense probably damaging 0.99
R4907:Otof UTSW 5 30,536,005 (GRCm39) critical splice donor site probably null
R4961:Otof UTSW 5 30,540,837 (GRCm39) intron probably benign
R4991:Otof UTSW 5 30,551,525 (GRCm39) missense probably damaging 1.00
R5015:Otof UTSW 5 30,540,238 (GRCm39) missense probably damaging 1.00
R5036:Otof UTSW 5 30,541,783 (GRCm39) missense possibly damaging 0.54
R5038:Otof UTSW 5 30,541,783 (GRCm39) missense possibly damaging 0.54
R5253:Otof UTSW 5 30,527,483 (GRCm39) missense probably damaging 1.00
R5336:Otof UTSW 5 30,534,064 (GRCm39) missense probably benign 0.01
R5365:Otof UTSW 5 30,539,144 (GRCm39) missense probably damaging 0.99
R5901:Otof UTSW 5 30,532,323 (GRCm39) missense probably damaging 1.00
R6211:Otof UTSW 5 30,529,244 (GRCm39) missense probably damaging 0.99
R6318:Otof UTSW 5 30,571,888 (GRCm39) missense probably damaging 1.00
R6331:Otof UTSW 5 30,529,279 (GRCm39) missense possibly damaging 0.94
R6671:Otof UTSW 5 30,576,877 (GRCm39) missense probably benign
R6701:Otof UTSW 5 30,528,141 (GRCm39) nonsense probably null
R6792:Otof UTSW 5 30,532,978 (GRCm39) missense probably damaging 1.00
R6853:Otof UTSW 5 30,545,583 (GRCm39) missense probably damaging 1.00
R6940:Otof UTSW 5 30,528,987 (GRCm39) missense probably damaging 0.96
R7037:Otof UTSW 5 30,538,882 (GRCm39) missense probably benign 0.32
R7060:Otof UTSW 5 30,545,700 (GRCm39) missense possibly damaging 0.84
R7089:Otof UTSW 5 30,528,912 (GRCm39) missense possibly damaging 0.94
R7165:Otof UTSW 5 30,532,964 (GRCm39) missense probably damaging 0.99
R7178:Otof UTSW 5 30,540,878 (GRCm39) missense possibly damaging 0.50
R7298:Otof UTSW 5 30,545,614 (GRCm39) missense probably damaging 1.00
R7393:Otof UTSW 5 30,527,614 (GRCm39) missense probably benign 0.45
R7397:Otof UTSW 5 30,533,051 (GRCm39) missense probably damaging 1.00
R7400:Otof UTSW 5 30,542,532 (GRCm39) missense probably benign 0.04
R7428:Otof UTSW 5 30,547,169 (GRCm39) missense probably damaging 1.00
R7456:Otof UTSW 5 30,552,005 (GRCm39) missense probably damaging 1.00
R7505:Otof UTSW 5 30,528,364 (GRCm39) missense probably benign 0.00
R7714:Otof UTSW 5 30,527,597 (GRCm39) missense probably damaging 0.99
R8002:Otof UTSW 5 30,537,954 (GRCm39) missense probably benign 0.10
R8032:Otof UTSW 5 30,619,142 (GRCm39) start codon destroyed probably benign 0.07
R8153:Otof UTSW 5 30,546,079 (GRCm39) missense probably damaging 1.00
R8158:Otof UTSW 5 30,537,538 (GRCm39) missense probably benign 0.37
R8159:Otof UTSW 5 30,537,538 (GRCm39) missense probably benign 0.37
R8441:Otof UTSW 5 30,538,200 (GRCm39) missense probably damaging 0.99
R8738:Otof UTSW 5 30,545,968 (GRCm39) nonsense probably null
R8813:Otof UTSW 5 30,540,242 (GRCm39) missense probably benign 0.02
R8835:Otof UTSW 5 30,528,264 (GRCm39) missense probably benign 0.44
R8852:Otof UTSW 5 30,529,044 (GRCm39) missense possibly damaging 0.94
R8869:Otof UTSW 5 30,578,325 (GRCm39) missense probably benign 0.08
R9029:Otof UTSW 5 30,527,419 (GRCm39) critical splice donor site probably null
R9061:Otof UTSW 5 30,546,001 (GRCm39) missense possibly damaging 0.50
R9100:Otof UTSW 5 30,539,696 (GRCm39) missense possibly damaging 0.80
R9121:Otof UTSW 5 30,536,462 (GRCm39) missense probably benign 0.04
R9188:Otof UTSW 5 30,534,095 (GRCm39) missense probably damaging 1.00
R9218:Otof UTSW 5 30,542,469 (GRCm39) missense probably benign
R9280:Otof UTSW 5 30,528,894 (GRCm39) missense probably damaging 0.98
R9395:Otof UTSW 5 30,532,976 (GRCm39) missense probably damaging 1.00
R9400:Otof UTSW 5 30,540,863 (GRCm39) critical splice donor site probably null
R9407:Otof UTSW 5 30,538,265 (GRCm39) missense probably damaging 1.00
R9616:Otof UTSW 5 30,539,708 (GRCm39) missense possibly damaging 0.95
R9665:Otof UTSW 5 30,584,895 (GRCm39) missense probably benign 0.22
R9748:Otof UTSW 5 30,540,998 (GRCm39) missense probably damaging 1.00
R9783:Otof UTSW 5 30,536,576 (GRCm39) missense probably benign
Z1176:Otof UTSW 5 30,528,930 (GRCm39) missense probably damaging 0.98
Z1177:Otof UTSW 5 30,541,002 (GRCm39) missense probably damaging 1.00
Z1177:Otof UTSW 5 30,533,641 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCTCCAGACAGTGCTATG -3'
(R):5'- TGGATGCACAATGACCCACC -3'

Sequencing Primer
(F):5'- CTCCAGACAGTGCTATGTGATCAAG -3'
(R):5'- ACGCCCATCTTGTTCTTCTACATG -3'
Posted On 2021-11-19