Incidental Mutation 'R5253:Otof'
ID 399186
Institutional Source Beutler Lab
Gene Symbol Otof
Ensembl Gene ENSMUSG00000062372
Gene Name otoferlin
Synonyms
MMRRC Submission 042824-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R5253 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 30367062-30461932 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30370139 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1985 (S1985P)
Ref Sequence ENSEMBL: ENSMUSP00000073803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074171] [ENSMUST00000101448] [ENSMUST00000114747]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000074171
AA Change: S1985P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073803
Gene: ENSMUSG00000062372
AA Change: S1985P

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: ENSMUST00000101448
SMART Domains Protein: ENSMUSP00000098992
Gene: ENSMUSG00000073102

DomainStartEndE-ValueType
low complexity region 33 55 N/A INTRINSIC
low complexity region 62 79 N/A INTRINSIC
Pfam:NYD-SP28 100 200 1.7e-33 PFAM
coiled coil region 280 318 N/A INTRINSIC
low complexity region 455 473 N/A INTRINSIC
low complexity region 559 569 N/A INTRINSIC
low complexity region 599 612 N/A INTRINSIC
Pfam:NYD-SP28_assoc 673 732 2.2e-25 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
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200001
Meta Mutation Damage Score 0.1499 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 99% (72/73)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J11Rik T C 9: 40,051,450 (GRCm38) noncoding transcript Het
Actrt2 A C 4: 154,667,569 (GRCm38) S37A possibly damaging Het
Adcy7 T C 8: 88,314,114 (GRCm38) I327T probably damaging Het
Ankrd13b A G 11: 77,473,235 (GRCm38) probably benign Het
Arap1 A C 7: 101,388,644 (GRCm38) I237L probably benign Het
Arhgap17 A T 7: 123,303,748 (GRCm38) Y359N probably benign Het
Atad1 A G 19: 32,674,302 (GRCm38) M343T probably benign Het
Cacna1b A T 2: 24,719,952 (GRCm38) I392N probably damaging Het
Cacna1c A G 6: 118,597,969 (GRCm38) S1914P probably benign Het
Cd300a G T 11: 114,894,751 (GRCm38) R174L probably benign Het
Dip2a G A 10: 76,299,997 (GRCm38) P356L probably damaging Het
Dsg1c T C 18: 20,272,379 (GRCm38) L283P probably damaging Het
Dusp1 T C 17: 26,508,217 (GRCm38) N36S probably benign Het
Ercc3 C A 18: 32,269,864 (GRCm38) P776Q probably damaging Het
Etv1 A G 12: 38,852,249 (GRCm38) R260G possibly damaging Het
Fa2h C G 8: 111,349,237 (GRCm38) M251I probably benign Het
Flg2 A G 3: 93,200,812 (GRCm38) D49G probably damaging Het
Fras1 A G 5: 96,741,025 (GRCm38) E2810G probably damaging Het
Fuk T C 8: 110,883,867 (GRCm38) E968G possibly damaging Het
Gabbr1 T C 17: 37,055,913 (GRCm38) F343S possibly damaging Het
Gdf2 A G 14: 33,945,307 (GRCm38) T329A probably benign Het
Hcn4 T A 9: 58,824,275 (GRCm38) I255N unknown Het
Hk3 T G 13: 55,011,011 (GRCm38) D485A probably damaging Het
Hook3 T C 8: 26,072,291 (GRCm38) T249A probably benign Het
Kcp C T 6: 29,498,520 (GRCm38) probably benign Het
Kifc2 G T 15: 76,666,281 (GRCm38) R515L possibly damaging Het
Kiss1r A G 10: 79,920,750 (GRCm38) Y142C probably damaging Het
Klk14 G A 7: 43,692,077 (GRCm38) C51Y probably damaging Het
Klrb1a T A 6: 128,619,163 (GRCm38) I72L probably benign Het
Lep T A 6: 29,070,863 (GRCm38) F62Y probably damaging Het
Lrtm1 A G 14: 29,021,844 (GRCm38) T90A probably benign Het
Mug1 A T 6: 121,888,913 (GRCm38) D1472V probably benign Het
Ncor2 G T 5: 125,026,930 (GRCm38) P1988Q probably benign Het
Nlrp4a C T 7: 26,450,492 (GRCm38) S508L probably benign Het
Obp2b T A 2: 25,737,143 (GRCm38) D29E probably benign Het
Olfr1123 G A 2: 87,418,668 (GRCm38) V207M possibly damaging Het
Olfr1214 A G 2: 88,988,100 (GRCm38) L34P possibly damaging Het
Olfr1224-ps1 A T 2: 89,156,457 (GRCm38) C239* probably null Het
Olfr725 T C 14: 50,035,288 (GRCm38) I38M possibly damaging Het
Olfr803 A G 10: 129,691,732 (GRCm38) I103T probably damaging Het
Oxct2a A T 4: 123,323,093 (GRCm38) V165E probably damaging Het
Papd5 C A 8: 88,200,023 (GRCm38) H20Q possibly damaging Het
Pcdhgb7 T C 18: 37,753,097 (GRCm38) V440A possibly damaging Het
Pelp1 C A 11: 70,401,661 (GRCm38) G211C probably damaging Het
Phox2a A G 7: 101,822,105 (GRCm38) H268R probably benign Het
Pik3c2g T C 6: 139,896,257 (GRCm38) probably null Het
Pramel1 T A 4: 143,398,586 (GRCm38) M360K probably benign Het
Rbm6 C T 9: 107,852,657 (GRCm38) R132K probably damaging Het
Slc22a30 G A 19: 8,344,393 (GRCm38) Q436* probably null Het
Slc45a1 T C 4: 150,638,270 (GRCm38) T386A probably damaging Het
Smad2 A G 18: 76,288,053 (GRCm38) Y151C probably damaging Het
Sptbn2 G A 19: 4,750,082 (GRCm38) G2188D probably benign Het
Sugt1 G A 14: 79,602,901 (GRCm38) probably null Het
Tctn3 T C 19: 40,607,241 (GRCm38) S367G probably benign Het
Tead1 G T 7: 112,861,545 (GRCm38) D219Y probably damaging Het
Tenm2 G T 11: 36,047,201 (GRCm38) Y1548* probably null Het
Tenm3 T A 8: 48,229,198 (GRCm38) I2466F possibly damaging Het
Tgm2 G A 2: 158,129,438 (GRCm38) P294S probably damaging Het
Tns2 T C 15: 102,111,453 (GRCm38) S585P probably damaging Het
Ttc41 A G 10: 86,730,942 (GRCm38) K491E probably benign Het
Ttn G A 2: 76,791,551 (GRCm38) T15549I probably damaging Het
Vmn1r157 T C 7: 22,761,758 (GRCm38) L21P probably damaging Het
Vmn2r81 A G 10: 79,247,986 (GRCm38) M65V probably benign Het
Wdr34 T A 2: 30,032,363 (GRCm38) probably benign Het
Zcchc14 T C 8: 121,618,694 (GRCm38) probably benign Het
Other mutations in Otof
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Otof APN 5 30,375,904 (GRCm38) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCAATACATGTTTATGTGGATGCAC -3'
(R):5'- CCAGAAACTCCTGCTTGGTG -3'

Sequencing Primer
(F):5'- ACATGTTTATGTGGATGCACATATG -3'
(R):5'- CTGCTTGGTGGAGGTCTCTCAC -3'
Posted On 2016-07-06