Incidental Mutation 'R9665:Otof'
ID 727747
Institutional Source Beutler Lab
Gene Symbol Otof
Ensembl Gene ENSMUSG00000062372
Gene Name otoferlin
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R9665 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 30524406-30619276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30584895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 70 (S70C)
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: S70C

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000073803
Gene: ENSMUSG00000062372
AA Change: S70C

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: S70C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110395
Gene: ENSMUSG00000062372
AA Change: S70C

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: 99.6%
  • 20x: 98.7%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T C 14: 44,407,796 (GRCm39) E79G probably damaging Het
4930583I09Rik T A 17: 65,141,288 (GRCm39) Q78L unknown Het
9330159F19Rik G T 10: 29,103,344 (GRCm39) V642F probably benign Het
Abca9 T A 11: 110,006,280 (GRCm39) Q1275L probably benign Het
Abca9 G T 11: 110,006,281 (GRCm39) Q1275K probably benign Het
Ager C T 17: 34,819,090 (GRCm39) P313S probably benign Het
Ap4m1 T A 5: 138,171,273 (GRCm39) N98K probably benign Het
Arhgef12 T G 9: 42,929,650 (GRCm39) K215T possibly damaging Het
Arhgef4 T C 1: 34,849,518 (GRCm39) Y370H probably benign Het
Bcat1 T G 6: 144,994,488 (GRCm39) H3P probably benign Het
Btnl6 T A 17: 34,732,635 (GRCm39) Q313L probably benign Het
Cad T C 5: 31,229,703 (GRCm39) S1458P probably benign Het
Cfap161 A G 7: 83,442,579 (GRCm39) V78A probably benign Het
Chd2 C A 7: 73,079,555 (GRCm39) A1782S probably benign Het
Cimip2b T A 4: 43,427,554 (GRCm39) R257* probably null Het
Col4a3 A T 1: 82,668,301 (GRCm39) T1042S unknown Het
Cramp1 A T 17: 25,196,545 (GRCm39) N856K probably damaging Het
Crispld2 G A 8: 120,760,316 (GRCm39) R414H probably benign Het
Ctsb T A 14: 63,370,917 (GRCm39) probably null Het
Cyp2c69 T C 19: 39,839,504 (GRCm39) D373G possibly damaging Het
Dnah3 A G 7: 119,644,981 (GRCm39) V1100A probably benign Het
Dnajb6 A T 5: 29,971,374 (GRCm39) L225F probably damaging Het
Dscc1 A T 15: 54,946,837 (GRCm39) I296K unknown Het
Epb41l2 A G 10: 25,317,798 (GRCm39) D105G probably benign Het
Evpl G A 11: 116,123,497 (GRCm39) R292C probably damaging Het
Flnc T C 6: 29,455,447 (GRCm39) I2032T probably damaging Het
Fryl T A 5: 73,222,299 (GRCm39) D2094V probably damaging Het
Gigyf2 A G 1: 87,331,457 (GRCm39) S202G unknown Het
Hdgfl1 A T 13: 26,953,812 (GRCm39) M87K probably benign Het
Htra3 T A 5: 35,836,654 (GRCm39) I13F unknown Het
Igf2r T C 17: 12,913,027 (GRCm39) N1774D probably benign Het
Ighj1 A T 12: 113,393,446 (GRCm39) Y3N Het
Incenp T C 19: 9,871,329 (GRCm39) H100R unknown Het
Klrb1c A G 6: 128,760,625 (GRCm39) probably null Het
Lmbrd1 T A 1: 24,732,065 (GRCm39) V94D probably damaging Het
Lmna A T 3: 88,389,793 (GRCm39) S611T probably benign Het
Lsp1 A C 7: 142,044,142 (GRCm39) I296L probably benign Het
Mdga1 A T 17: 30,051,991 (GRCm39) I892N probably damaging Het
Micu3 A G 8: 40,828,666 (GRCm39) E351G probably benign Het
Mrpl35 A G 6: 71,795,704 (GRCm39) V61A probably benign Het
Nhsl1 A G 10: 18,401,599 (GRCm39) K908E possibly damaging Het
Nlk A G 11: 78,481,753 (GRCm39) L236P Het
Nwd1 T A 8: 73,401,106 (GRCm39) H735Q probably damaging Het
Or1e1b-ps1 A T 11: 73,845,656 (GRCm39) I47F probably benign Het
Or5d47 A G 2: 87,804,596 (GRCm39) S138P possibly damaging Het
Or5w17 A T 2: 87,583,671 (GRCm39) I222N probably damaging Het
Or7h8 T A 9: 20,124,402 (GRCm39) Y252* probably null Het
Pcdh20 A T 14: 88,707,162 (GRCm39) V46D probably benign Het
Pjvk A G 2: 76,487,827 (GRCm39) T240A probably benign Het
Pou2f1 A G 1: 165,703,600 (GRCm39) S697P probably damaging Het
Prkn T A 17: 11,286,062 (GRCm39) D18E possibly damaging Het
Prmt9 G A 8: 78,307,267 (GRCm39) V739I probably benign Het
Prr14 A G 7: 127,073,091 (GRCm39) D146G probably benign Het
Rai14 T G 15: 10,574,803 (GRCm39) E747D probably damaging Het
Rapgef4 A T 2: 72,036,018 (GRCm39) T504S probably benign Het
Rilpl2 C A 5: 124,616,240 (GRCm39) probably benign Het
Ror2 A T 13: 53,439,561 (GRCm39) M1K probably null Het
Shisa9 A G 16: 12,085,446 (GRCm39) T352A probably benign Het
Slc35a4 A G 18: 36,813,651 (GRCm39) N33S probably benign Het
Slx4 G T 16: 3,806,890 (GRCm39) L518I probably benign Het
Speer1i A G 5: 11,092,852 (GRCm39) K132R Het
Spon2 T C 5: 33,374,702 (GRCm39) T35A probably benign Het
Syne3 A C 12: 104,924,247 (GRCm39) L471R probably benign Het
Tas2r115 A G 6: 132,714,390 (GRCm39) L187S probably benign Het
Tbc1d30 G T 10: 121,102,886 (GRCm39) S715R possibly damaging Het
Tdrd1 A G 19: 56,819,572 (GRCm39) E24G probably benign Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tjp1 A G 7: 64,962,644 (GRCm39) S1178P probably benign Het
Upf2 A G 2: 6,051,715 (GRCm39) S1126G unknown Het
Vmn1r128 G T 7: 21,083,362 (GRCm39) C22F probably damaging Het
Vmn2r95 G T 17: 18,660,607 (GRCm39) V340F probably damaging Het
Vps13c A T 9: 67,863,025 (GRCm39) K3014* probably null Het
Wdr75 T C 1: 45,843,013 (GRCm39) V126A unknown Het
Yeats4 A T 10: 117,053,343 (GRCm39) Y139* probably null Het
Zc3h13 A G 14: 75,567,989 (GRCm39) D1094G probably damaging Het
Zfp143 C G 7: 109,692,414 (GRCm39) I608M probably damaging Het
Zfp772 A T 7: 7,212,793 (GRCm39) M1K probably null Het
Zfp827 A G 8: 79,906,756 (GRCm39) M923V possibly damaging 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
R9031:Otof UTSW 5 30,537,532 (GRCm39) missense probably benign
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
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'- AGGTACTCTTGCTTGACAGTGG -3'
(R):5'- AGGATACAGATGATTTGCCCC -3'

Sequencing Primer
(F):5'- GCCAGGGTACTTTGAGGAC -3'
(R):5'- CCTGGGGATCCTGGCCC -3'
Posted On 2022-10-06