Incidental Mutation 'R0675:Otof'
ID 61599
Institutional Source Beutler Lab
Gene Symbol Otof
Ensembl Gene ENSMUSG00000062372
Gene Name otoferlin
Synonyms
MMRRC Submission 038860-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R0675 (G1)
Quality Score 97
Status Validated
Chromosome 5
Chromosomal Location 30524406-30619276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30539705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 1051 (Y1051F)
Ref Sequence ENSEMBL: ENSMUSP00000110395 (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: Y1036F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000073803
Gene: ENSMUSG00000062372
AA Change: Y1036F

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
AA Change: Y1051F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000110395
Gene: ENSMUSG00000062372
AA Change: Y1051F

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
Meta Mutation Damage Score 0.1144 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (88/91)
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
Ablim2 C T 5: 36,024,124 (GRCm39) probably benign Het
Aire T C 10: 77,870,327 (GRCm39) probably benign Het
Akap12 T C 10: 4,303,315 (GRCm39) S42P probably benign Het
Amigo1 T C 3: 108,098,985 (GRCm39) probably benign Het
Angptl3 A G 4: 98,921,499 (GRCm39) T206A probably benign Het
Ank1 T A 8: 23,600,400 (GRCm39) probably benign Het
Ano5 A T 7: 51,224,558 (GRCm39) T472S probably damaging Het
Arid3c T C 4: 41,725,958 (GRCm39) D215G probably damaging Het
Cd200 T C 16: 45,217,473 (GRCm39) I73V probably benign Het
Cd47 T C 16: 49,727,162 (GRCm39) I318T possibly damaging Het
Cep290 A G 10: 100,404,675 (GRCm39) probably null Het
Cep350 A G 1: 155,835,499 (GRCm39) S66P possibly damaging Het
Cfap46 C T 7: 139,255,950 (GRCm39) C300Y probably damaging Het
Chd1 T A 17: 15,978,523 (GRCm39) probably benign Het
Chd5 C A 4: 152,470,407 (GRCm39) T1913K probably benign Het
Cimip3 T C 17: 47,724,701 (GRCm39) E140G probably benign Het
Clec4b1 A G 6: 123,048,405 (GRCm39) Y180C probably damaging Het
Cntnap5c A T 17: 58,341,990 (GRCm39) D227V probably damaging Het
Col19a1 C G 1: 24,614,536 (GRCm39) probably benign Het
Csmd1 A T 8: 16,208,145 (GRCm39) M1270K probably benign Het
Cyp2c66 T A 19: 39,175,060 (GRCm39) F487I possibly damaging Het
Dpp8 T C 9: 64,973,784 (GRCm39) probably benign Het
Duoxa1 A T 2: 122,136,861 (GRCm39) probably benign Het
Edil3 A G 13: 89,325,399 (GRCm39) K263E probably damaging Het
Fat2 A G 11: 55,200,035 (GRCm39) L1013P probably damaging Het
Fras1 T C 5: 96,815,246 (GRCm39) probably benign Het
Gab1 A G 8: 81,496,297 (GRCm39) S668P probably damaging Het
Galnt14 T C 17: 73,852,030 (GRCm39) T130A probably damaging Het
Gm10192 G A 4: 97,071,109 (GRCm39) H99Y unknown Het
Gm5592 A G 7: 40,938,811 (GRCm39) T698A possibly damaging Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Gsdma3 A G 11: 98,522,017 (GRCm39) K149R probably benign Het
Igkv4-71 A G 6: 69,220,411 (GRCm39) S29P probably damaging Het
Igsf10 C T 3: 59,236,015 (GRCm39) V1389I probably benign Het
Ik T C 18: 36,880,386 (GRCm39) probably benign Het
Ino80 G A 2: 119,213,962 (GRCm39) P1203S probably damaging Het
Iqsec2 G A X: 150,987,120 (GRCm39) E398K possibly damaging Het
Jmjd6 A G 11: 116,731,353 (GRCm39) V232A probably damaging Het
Klhdc9 G A 1: 171,187,895 (GRCm39) T112M possibly damaging Het
Marcks A G 10: 37,017,181 (GRCm39) probably benign Het
Mctp2 T A 7: 71,732,918 (GRCm39) T829S probably damaging Het
Mroh2a C A 1: 88,156,102 (GRCm39) A78E probably damaging Het
Mroh2a G A 1: 88,178,064 (GRCm39) D1053N probably damaging Het
Mtmr14 A T 6: 113,247,608 (GRCm39) H518L probably damaging Het
Myo5c T C 9: 75,185,571 (GRCm39) M978T probably benign Het
Nlrc3 T C 16: 3,766,775 (GRCm39) I1015V probably benign Het
Nlrp5 C A 7: 23,116,842 (GRCm39) Q189K possibly damaging Het
Or1e26 A C 11: 73,480,078 (GRCm39) L162R probably damaging Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or51f1d A G 7: 102,700,909 (GRCm39) I135V probably benign Het
Or8k35 T C 2: 86,424,423 (GRCm39) I250V probably benign Het
Pcdhb14 C A 18: 37,581,392 (GRCm39) T166K possibly damaging Het
Pla2g4e A G 2: 120,030,679 (GRCm39) probably benign Het
Polr3gl T C 3: 96,489,471 (GRCm39) E20G probably damaging Het
Psmd1 A G 1: 86,009,761 (GRCm39) D295G probably benign Het
Ptpn21 C A 12: 98,654,475 (GRCm39) A831S probably benign Het
Pwwp3a T A 10: 80,065,914 (GRCm39) V56E probably damaging Het
Rd3l T C 12: 111,946,596 (GRCm39) D60G probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf213 A G 11: 119,332,660 (GRCm39) D2624G probably benign Het
Sec31a T C 5: 100,541,066 (GRCm39) D347G probably damaging Het
Sema4g G A 19: 44,986,026 (GRCm39) R289H probably damaging Het
Sema5b C T 16: 35,480,703 (GRCm39) T761I probably benign Het
Septin1 A T 7: 126,816,171 (GRCm39) F86L probably damaging Het
Shank3 T C 15: 89,415,591 (GRCm39) V627A possibly damaging Het
Slc25a46 C A 18: 31,742,641 (GRCm39) G75V probably benign Het
Slc45a2 T A 15: 11,025,864 (GRCm39) Y405N probably damaging Het
Spidr T C 16: 15,855,498 (GRCm39) E339G probably damaging Het
Sptbn1 A T 11: 30,067,903 (GRCm39) H1770Q probably damaging Het
Srgap1 T C 10: 121,628,140 (GRCm39) Y944C probably damaging Het
Supt20 C T 3: 54,614,390 (GRCm39) T169I probably damaging Het
Tie1 G A 4: 118,336,966 (GRCm39) Q587* probably null Het
Tmem214 A G 5: 31,029,169 (GRCm39) T203A possibly damaging Het
Tmprss15 C A 16: 78,782,838 (GRCm39) S742I probably damaging Het
Wdr87-ps T C 7: 29,231,942 (GRCm39) noncoding transcript Het
Zfhx2 A G 14: 55,300,620 (GRCm39) V2377A probably damaging Het
Zfp763 G A 17: 33,238,774 (GRCm39) H124Y possibly damaging Het
Zfp846 T C 9: 20,504,853 (GRCm39) S238P 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
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
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'- TGGCCTCAGTGTGTTTATCCAGGAG -3'
(R):5'- TGGACCATGTCCACAAGGCAAG -3'

Sequencing Primer
(F):5'- CCCAAGTGGCTCATGGTTC -3'
(R):5'- TAGGAGAATCGATCATTCCTGCC -3'
Posted On 2013-07-30