Incidental Mutation 'R1845:Otof'
ID 207630
Institutional Source Beutler Lab
Gene Symbol Otof
Ensembl Gene ENSMUSG00000062372
Gene Name otoferlin
Synonyms
MMRRC Submission 039870-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R1845 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 30524406-30619276 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 30529067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 1775 (Y1775*)
Ref Sequence ENSEMBL: ENSMUSP00000110395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074171] [ENSMUST00000114747]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000074171
AA Change: Y1780*
SMART Domains Protein: ENSMUSP00000073803
Gene: ENSMUSG00000062372
AA Change: Y1780*

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 null
Transcript: ENSMUST00000114747
AA Change: Y1775*
SMART Domains Protein: ENSMUSP00000110395
Gene: ENSMUSG00000062372
AA Change: Y1775*

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
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.7%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik CGGG CGGGGGG 15: 76,833,863 (GRCm39) probably benign Het
Abca17 A T 17: 24,486,690 (GRCm39) C1446S probably damaging Het
Asb16 C A 11: 102,167,582 (GRCm39) A316E possibly damaging Het
Axdnd1 C T 1: 156,204,114 (GRCm39) V384I possibly damaging Het
BC024139 A T 15: 76,009,461 (GRCm39) L207* probably null Het
Bcl3 T G 7: 19,543,552 (GRCm39) S305R probably damaging Het
Cachd1 T C 4: 100,634,555 (GRCm39) V77A probably benign Het
Cd101 C T 3: 100,936,764 (GRCm39) probably null Het
Cela1 T C 15: 100,583,048 (GRCm39) N64S probably benign Het
Cep128 T C 12: 91,256,372 (GRCm39) D366G probably benign Het
Col12a1 A G 9: 79,604,823 (GRCm39) V675A probably benign Het
Copg1 A G 6: 87,870,800 (GRCm39) Y201C probably damaging Het
Cyp24a1 T C 2: 170,329,837 (GRCm39) R372G probably benign Het
Dcaf1 A C 9: 106,729,161 (GRCm39) I567L probably benign Het
Dcn A G 10: 97,342,536 (GRCm39) D164G probably benign Het
Dnase2a T A 8: 85,635,951 (GRCm39) H113Q probably benign Het
Espl1 T C 15: 102,207,448 (GRCm39) V304A probably benign Het
Fam193a A G 5: 34,600,716 (GRCm39) D315G possibly damaging Het
Fkbp8 T A 8: 70,983,685 (GRCm39) probably null Het
Foxp4 T A 17: 48,188,884 (GRCm39) T321S probably null Het
Fut10 A G 8: 31,726,328 (GRCm39) N361S probably damaging Het
Gyg1 A T 3: 20,205,286 (GRCm39) V94D probably damaging Het
Has2 T C 15: 56,531,974 (GRCm39) K247R probably damaging Het
Helz2 G T 2: 180,873,878 (GRCm39) D2205E probably benign Het
Hps6 T A 19: 45,993,409 (GRCm39) S449T probably benign Het
Ints10 T C 8: 69,247,323 (GRCm39) Y64H probably damaging Het
Kalrn T C 16: 34,177,331 (GRCm39) H278R probably damaging Het
Klhdc8a T C 1: 132,231,548 (GRCm39) V280A possibly damaging Het
Klk1b5 A G 7: 43,869,549 (GRCm39) M210V probably benign Het
Kmt2c G A 5: 25,578,434 (GRCm39) A614V probably benign Het
Lck T A 4: 129,451,879 (GRCm39) I45F probably benign Het
Lin7a A C 10: 107,247,920 (GRCm39) E75A probably damaging Het
Lrp1 A T 10: 127,414,542 (GRCm39) C1070S probably damaging Het
Mapk8ip3 G T 17: 25,133,557 (GRCm39) N289K probably benign Het
Mbtps1 T C 8: 120,249,232 (GRCm39) D686G probably benign Het
Mknk1 T A 4: 115,730,428 (GRCm39) C178* probably null Het
Mtmr6 A G 14: 60,534,184 (GRCm39) N474S probably damaging Het
Mvb12b A G 2: 33,730,169 (GRCm39) probably null Het
Myh6 T C 14: 55,182,131 (GRCm39) K1759R probably damaging Het
Nfatc1 T C 18: 80,678,746 (GRCm39) K881E possibly damaging Het
Nlrp10 A G 7: 108,526,248 (GRCm39) F30S probably damaging Het
Nop14 G T 5: 34,807,672 (GRCm39) A430E possibly damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or1j18 A T 2: 36,624,854 (GRCm39) I174F probably damaging Het
Or4c107 A G 2: 88,789,211 (GRCm39) I134V probably damaging Het
Or4c108 A G 2: 88,803,482 (GRCm39) V251A probably benign Het
Or6c205 A G 10: 129,086,463 (GRCm39) E20G probably benign Het
Or6c88 A T 10: 129,407,217 (GRCm39) Q231L probably damaging Het
Or7g17 A T 9: 18,768,782 (GRCm39) Y287F possibly damaging Het
Osbpl7 C A 11: 96,949,954 (GRCm39) S378R probably damaging Het
Parp16 T C 9: 65,122,876 (GRCm39) S46P possibly damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pi16 A T 17: 29,538,361 (GRCm39) Q58L possibly damaging Het
Pld3 C A 7: 27,238,877 (GRCm39) M190I probably benign Het
Plscr4 T G 9: 92,372,099 (GRCm39) I290S probably damaging Het
Ppip5k2 T C 1: 97,651,531 (GRCm39) D928G possibly damaging Het
Ppp1r13l T A 7: 19,102,536 (GRCm39) L15Q probably damaging Het
Prorp T A 12: 55,351,117 (GRCm39) I142N possibly damaging Het
Ptpn14 C A 1: 189,571,699 (GRCm39) S263R possibly damaging Het
Sema7a G A 9: 57,862,182 (GRCm39) V178I possibly damaging Het
Sesn2 A T 4: 132,224,381 (GRCm39) Y342* probably null Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sltm A G 9: 70,450,314 (GRCm39) N38S possibly damaging Het
Smg1 T C 7: 117,753,845 (GRCm39) probably benign Het
Spsb1 A T 4: 149,991,367 (GRCm39) V67E probably damaging Het
Suox A G 10: 128,506,408 (GRCm39) V540A possibly damaging Het
Tbc1d12 T A 19: 38,899,529 (GRCm39) I483N probably damaging Het
Tbcb A T 7: 29,923,924 (GRCm39) D198E possibly damaging Het
Tbce T C 13: 14,194,294 (GRCm39) K122E probably benign Het
Tcap T A 11: 98,275,205 (GRCm39) L113H probably damaging Het
Thsd7a A T 6: 12,321,040 (GRCm39) I1545N probably damaging Het
Tmed10 T C 12: 85,421,277 (GRCm39) T55A possibly damaging Het
Tmem268 T A 4: 63,498,180 (GRCm39) V200D probably damaging Het
Tmem45b A C 9: 31,342,651 (GRCm39) I50M probably damaging Het
Trp53bp2 T C 1: 182,286,468 (GRCm39) W1103R probably damaging Het
Ttn C T 2: 76,594,377 (GRCm39) V20524M probably damaging Het
Ulk2 A T 11: 61,703,564 (GRCm39) N379K probably benign Het
Vmn1r59 A G 7: 5,457,553 (GRCm39) V69A probably benign Het
Vmn2r10 A T 5: 109,149,861 (GRCm39) Y394* probably null Het
Zfp212 T C 6: 47,908,475 (GRCm39) S485P probably benign Het
Zfp512b A T 2: 181,227,528 (GRCm39) C776S probably damaging Het
Zfp518b A G 5: 38,829,084 (GRCm39) Y974H probably 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
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'- TCTCTGGCTCTGAGGACTAG -3'
(R):5'- TTCACGGGAGAGAAGTCCAG -3'

Sequencing Primer
(F):5'- TCTGAGGACTAGGTGACCCCTC -3'
(R):5'- GAGAGAAGTCCAGTGACATTTTTG -3'
Posted On 2014-06-23