Incidental Mutation 'R0570:Otof'
ID 46362
Institutional Source Beutler Lab
Gene Symbol Otof
Ensembl Gene ENSMUSG00000062372
Gene Name otoferlin
Synonyms
MMRRC Submission 038761-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R0570 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 30524406-30619276 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 30529225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000073803
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 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
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (85/85)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik C A 8: 84,729,733 (GRCm39) probably benign Het
Aadacl3 C T 4: 144,190,130 (GRCm39) W57* probably null Het
Abca2 G T 2: 25,337,417 (GRCm39) probably null Het
Abca3 A G 17: 24,593,373 (GRCm39) I257V probably benign Het
Adamts2 A G 11: 50,666,963 (GRCm39) D420G probably damaging Het
Adamts5 A G 16: 85,696,135 (GRCm39) F341L probably damaging Het
Ahnak T A 19: 8,991,062 (GRCm39) D4115E probably damaging Het
Arhgap20 T C 9: 51,751,751 (GRCm39) S365P possibly damaging Het
Atrn G A 2: 130,822,054 (GRCm39) V916I probably benign Het
Blmh T C 11: 76,856,651 (GRCm39) V82A probably damaging Het
C1ra A T 6: 124,490,664 (GRCm39) Y19F probably benign Het
Cactin A G 10: 81,159,067 (GRCm39) E306G probably damaging Het
Celsr1 C T 15: 85,787,566 (GRCm39) R2724Q probably benign Het
Clca4b T C 3: 144,631,110 (GRCm39) E250G probably benign Het
Col17a1 A T 19: 47,654,317 (GRCm39) S647T possibly damaging Het
Cope T A 8: 70,759,181 (GRCm39) D74E probably damaging Het
Dsg1c T C 18: 20,403,435 (GRCm39) I198T probably damaging Het
Elfn2 T C 15: 78,557,434 (GRCm39) N371S probably damaging Het
Elmo2 G T 2: 165,146,839 (GRCm39) A246D probably benign Het
Ewsr1 A T 11: 5,035,935 (GRCm39) M187K possibly damaging Het
Faap100 A T 11: 120,265,114 (GRCm39) S587R possibly damaging Het
Fam234b C T 6: 135,186,247 (GRCm39) S85L probably benign Het
Fanca A T 8: 124,033,169 (GRCm39) S292R probably benign Het
Fanci G A 7: 79,093,711 (GRCm39) C1021Y probably damaging Het
Fhod3 T C 18: 25,245,640 (GRCm39) I1230T probably benign Het
Fmo5 T C 3: 97,536,456 (GRCm39) L27S probably damaging Het
Fmo9 A G 1: 166,502,031 (GRCm39) V147A probably null Het
Fnbp4 A G 2: 90,583,301 (GRCm39) Y309C probably damaging Het
Foxb1 T C 9: 69,666,844 (GRCm39) T229A probably benign Het
Gapvd1 A G 2: 34,618,552 (GRCm39) Y274H probably damaging Het
Gbp8 T C 5: 105,165,541 (GRCm39) probably null Het
Gcn1 T A 5: 115,730,480 (GRCm39) L888Q probably damaging Het
Gm17490 T C 2: 11,630,460 (GRCm39) probably benign Het
Gtf2ird2 T A 5: 134,237,785 (GRCm39) probably null Het
H2-Q1 A G 17: 35,540,373 (GRCm39) T153A possibly damaging Het
Ina A C 19: 47,011,938 (GRCm39) E452A probably benign Het
Kars1 A G 8: 112,721,494 (GRCm39) probably null Het
Kif1c A G 11: 70,595,291 (GRCm39) E124G probably damaging Het
Lpin3 T C 2: 160,745,944 (GRCm39) probably benign Het
Lrp1 A T 10: 127,390,878 (GRCm39) C3006* probably null Het
Lyst T C 13: 13,883,971 (GRCm39) L2953P probably benign Het
Mb21d2 G A 16: 28,748,324 (GRCm39) A31V probably benign Het
Melk T C 4: 44,308,906 (GRCm39) Y88H probably damaging Het
Myrf A G 19: 10,189,161 (GRCm39) S857P probably damaging Het
Nos2 A G 11: 78,826,187 (GRCm39) I153M possibly damaging Het
Or4n4 T G 14: 50,519,370 (GRCm39) L113F probably benign Het
Patl2 A G 2: 121,955,789 (GRCm39) V249A probably damaging Het
Pcgf5 A G 19: 36,389,580 (GRCm39) Y19C probably benign Het
Pcnt A T 10: 76,247,941 (GRCm39) V951E probably damaging Het
Pcolce2 T C 9: 95,520,710 (GRCm39) V29A probably benign Het
Pdgfrb A T 18: 61,210,775 (GRCm39) M761L probably benign Het
Pi16 A T 17: 29,538,189 (GRCm39) M1L possibly damaging Het
Pkd2 T A 5: 104,603,471 (GRCm39) probably benign Het
Plcb2 A G 2: 118,547,806 (GRCm39) W474R probably benign Het
Psapl1 A G 5: 36,361,624 (GRCm39) D72G possibly damaging Het
Ptpn5 T A 7: 46,728,681 (GRCm39) probably benign Het
Ptprg A G 14: 12,215,896 (GRCm38) E1115G probably damaging Het
Rassf1 C T 9: 107,435,165 (GRCm39) T224I probably damaging Het
Rbpms2 T A 9: 65,566,476 (GRCm39) C168* probably null Het
Rhag A G 17: 41,139,804 (GRCm39) probably benign Het
Rhebl1 C T 15: 98,779,034 (GRCm39) V17I probably benign Het
Rnf130 A T 11: 49,986,703 (GRCm39) D349V possibly damaging Het
Rprd1a A G 18: 24,642,952 (GRCm39) L60P probably damaging Het
Rspry1 T C 8: 95,356,420 (GRCm39) I25T probably damaging Het
Ruvbl2 C T 7: 45,071,621 (GRCm39) V421M probably damaging Het
Sap30 T C 8: 57,936,000 (GRCm39) N209D possibly damaging Het
Sfswap T C 5: 129,581,042 (GRCm39) probably benign Het
Slc1a2 G A 2: 102,586,352 (GRCm39) V319M probably damaging Het
Smad2 T C 18: 76,422,250 (GRCm39) probably benign Het
Spdya T C 17: 71,869,585 (GRCm39) probably null Het
Stk39 G A 2: 68,240,392 (GRCm39) T113M probably damaging Het
Tanc1 A G 2: 59,626,382 (GRCm39) probably benign Het
Tas2r122 T C 6: 132,688,774 (GRCm39) K40E probably damaging Het
Tph2 G T 10: 115,010,039 (GRCm39) probably benign Het
Trip12 G A 1: 84,729,269 (GRCm39) S1083F probably damaging Het
Tsc2 A T 17: 24,845,701 (GRCm39) C206S probably damaging Het
Tsc22d4 A G 5: 137,760,681 (GRCm39) Q34R possibly damaging Het
Uroc1 G T 6: 90,315,546 (GRCm39) M142I possibly damaging Het
Uso1 T C 5: 92,347,682 (GRCm39) S766P probably benign Het
Usp21 G A 1: 171,111,319 (GRCm39) probably benign Het
Usp48 T A 4: 137,360,437 (GRCm39) I658K possibly damaging Het
Vmn1r206 T C 13: 22,804,583 (GRCm39) H208R probably damaging Het
Vmn2r109 C T 17: 20,760,937 (GRCm39) A807T probably damaging Het
Zfp329 A T 7: 12,544,379 (GRCm39) C382S probably damaging Het
Zfp341 A G 2: 154,487,988 (GRCm39) E817G 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
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
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'- GGTATCTCCAGTTGAAGTTGCCCTC -3'
(R):5'- TGTTGTTTGACCCACCAGGACAC -3'

Sequencing Primer
(F):5'- GAAGTTGCCCTCCCCCG -3'
(R):5'- TAAGAGACCCTGATCTGTCCC -3'
Posted On 2013-06-11