Incidental Mutation 'R7397:Otof'
ID 573880
Institutional Source Beutler Lab
Gene Symbol Otof
Ensembl Gene ENSMUSG00000062372
Gene Name otoferlin
Synonyms
MMRRC Submission 045479-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R7397 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 30524406-30619276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30533051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 1564 (W1564R)
Ref Sequence ENSEMBL: ENSMUSP00000073803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074171] [ENSMUST00000114747]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000074171
AA Change: W1564R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073803
Gene: ENSMUSG00000062372
AA Change: W1564R

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: W1559R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110395
Gene: ENSMUSG00000062372
AA Change: W1559R

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: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (77/77)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik T C 2: 155,845,848 (GRCm39) H3R unknown Het
Adam18 T A 8: 25,136,321 (GRCm39) E400V possibly damaging Het
Ak5 A T 3: 152,183,989 (GRCm39) F473I probably damaging Het
Arhgef10l G A 4: 140,290,115 (GRCm39) P486S probably damaging Het
Asphd1 T A 7: 126,548,001 (GRCm39) R101W possibly damaging Het
Bhlha15 G A 5: 144,128,223 (GRCm39) E112K probably damaging Het
C4b A T 17: 34,961,364 (GRCm39) D198E possibly damaging Het
Carmil1 G T 13: 24,228,294 (GRCm39) P961T probably damaging Het
Catsperb T C 12: 101,554,282 (GRCm39) S659P possibly damaging Het
Cdh3 C T 8: 107,263,241 (GRCm39) R97* probably null Het
Cep192 T C 18: 67,989,268 (GRCm39) I1805T probably damaging Het
Cep250 T G 2: 155,823,331 (GRCm39) L995R probably damaging Het
Cfap276 T A 3: 108,450,864 (GRCm39) I102N probably benign Het
Cfap53 T C 18: 74,416,294 (GRCm39) V9A possibly damaging Het
Chd5 A G 4: 152,452,469 (GRCm39) K809E possibly damaging Het
Csmd3 T C 15: 47,559,130 (GRCm39) T1467A Het
Ctla2a T A 13: 61,083,463 (GRCm39) R60S probably damaging Het
Cts6 A T 13: 61,350,014 (GRCm39) D22E possibly damaging Het
Ctsll3 T A 13: 60,948,532 (GRCm39) E109V probably benign Het
Dgka G A 10: 128,556,594 (GRCm39) P701S possibly damaging Het
Dnhd1 A T 7: 105,354,504 (GRCm39) I3089F possibly damaging Het
Dock2 T A 11: 34,609,816 (GRCm39) D208V probably benign Het
Fnbp1l G T 3: 122,338,286 (GRCm39) Q520K probably benign Het
Foxc1 A G 13: 31,991,618 (GRCm39) D143G probably damaging Het
Fsip2 G A 2: 82,815,601 (GRCm39) R3778Q possibly damaging Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gm4871 A T 5: 144,969,508 (GRCm39) C4S probably damaging Het
Gpt C A 15: 76,582,717 (GRCm39) T294K probably benign Het
Hsd17b4 G T 18: 50,279,491 (GRCm39) G157C probably damaging Het
Iars1 G A 13: 49,882,153 (GRCm39) E1066K probably benign Het
Ifih1 G A 2: 62,453,832 (GRCm39) T260I possibly damaging Het
Ighv5-8 TATATATATATATATATATATA TATATATATATATATATATATATA 12: 113,618,565 (GRCm39) probably null Het
Ipcef1 T A 10: 6,922,244 (GRCm39) *338R probably null Het
Kif20a A G 18: 34,760,729 (GRCm39) T166A probably damaging Het
Map3k1 G A 13: 111,891,742 (GRCm39) A1171V probably damaging Het
Map3k21 T C 8: 126,661,855 (GRCm39) F484S probably damaging Het
Mbnl1 A T 3: 60,523,051 (GRCm39) Q180L probably benign Het
Mmp2 T C 8: 93,562,755 (GRCm39) F331L possibly damaging Het
Ms4a7 G T 19: 11,298,916 (GRCm39) H257N probably benign Het
Mtbp T A 15: 55,432,547 (GRCm39) S285T probably benign Het
Mtrex A T 13: 113,058,220 (GRCm39) D70E probably benign Het
Myo1c A G 11: 75,562,068 (GRCm39) N852S probably benign Het
Myom3 T A 4: 135,510,429 (GRCm39) F574Y probably damaging Het
Nbeal2 A G 9: 110,457,100 (GRCm39) I2322T possibly damaging Het
Nlrp10 A G 7: 108,523,899 (GRCm39) L527P probably damaging Het
Nudt16l2 A T 9: 105,021,621 (GRCm39) W142R probably damaging Het
Nxnl1 C T 8: 72,019,105 (GRCm39) G40D probably damaging Het
Or52n1 C T 7: 104,382,815 (GRCm39) C252Y possibly damaging Het
Or5af1 C T 11: 58,722,115 (GRCm39) T45M probably benign Het
Pcdhga7 A G 18: 37,850,327 (GRCm39) Y778C probably benign Het
Pcnx2 C T 8: 126,617,624 (GRCm39) probably null Het
Pdpr T A 8: 111,839,385 (GRCm39) N169K possibly damaging Het
Pkd1l2 C A 8: 117,762,641 (GRCm39) V1379F possibly damaging Het
Ppp4r1 T G 17: 66,144,786 (GRCm39) I801S probably benign Het
Ppp4r4 A T 12: 103,579,065 (GRCm39) probably null Het
Prl2c5 A G 13: 13,366,327 (GRCm39) D202G probably benign Het
Rap1gap2 T C 11: 74,305,237 (GRCm39) T323A probably benign Het
Rapgef4 T C 2: 72,036,010 (GRCm39) M501T probably benign Het
Rbm6 A G 9: 107,729,718 (GRCm39) M310T probably benign Het
Rdh1 A T 10: 127,596,047 (GRCm39) I81F probably benign Het
Rock1 C T 18: 10,097,599 (GRCm39) A730T possibly damaging Het
Rsl1 C T 13: 67,330,101 (GRCm39) T183I possibly damaging Het
Scyl3 T C 1: 163,778,487 (GRCm39) probably null Het
Snap29 T C 16: 17,237,236 (GRCm39) F116L probably damaging Het
Syt5 A T 7: 4,545,395 (GRCm39) probably null Het
Tat T C 8: 110,724,200 (GRCm39) L363P probably damaging Het
Ttn A G 2: 76,601,316 (GRCm39) V18719A possibly damaging Het
Ube2e2 T A 14: 18,630,339 (GRCm38) D107V probably damaging Het
Vmn1r64 A G 7: 5,887,013 (GRCm39) S177P possibly damaging Het
Vmn1r91 A T 7: 19,835,695 (GRCm39) T205S possibly damaging Het
Vmn2r124 T C 17: 18,282,947 (GRCm39) W214R probably damaging Het
Vmn2r25 A T 6: 123,800,498 (GRCm39) F615I probably damaging Het
Vmn2r91 G T 17: 18,356,060 (GRCm39) V576L probably benign Het
Vsig10l A C 7: 43,117,431 (GRCm39) T573P probably damaging Het
Wdr93 A G 7: 79,416,172 (GRCm39) Q276R probably null Het
Zc3h7b T C 15: 81,653,354 (GRCm39) V86A possibly damaging Het
Zeb1 T A 18: 5,761,394 (GRCm39) Y231N probably damaging Het
Zfp407 T C 18: 84,579,944 (GRCm39) K390E possibly damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null 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
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'- CCACCTGGAGTCTTGTCTTAGTG -3'
(R):5'- GAAGTAAGGCCTCAAGCTGC -3'

Sequencing Primer
(F):5'- TGTGCAGCAGACATCCAG -3'
(R):5'- GGCCTCAAGCTGCCCTCTC -3'
Posted On 2019-09-13