Mutagenetix > Incidental Mutation

Incidental Mutation 'R8158:Otof'

633352

Institutional Source

Beutler Lab

Gene Symbol

Otof

Ensembl Gene

ENSMUSG00000062372

Gene Name

otoferlin

Synonyms

MMRRC Submission

067584-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R8158 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30367062-30461932 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30380194 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 1257 (G1257D)

Ref Sequence

ENSEMBL: ENSMUSP00000073803 (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: G1257D

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000073803
Gene: ENSMUSG00000062372
AA Change: G1257D

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 99.5%
20x: 98.3%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016D06Rik	T	A	8: 11,665,056 (GRCm38)	D46V	probably damaging	Het
Abl2	T	A	1: 156,642,069 (GRCm38)	S968T	probably benign	Het
Adcy8	T	C	15: 64,783,806 (GRCm38)	D608G	probably benign	Het
Adgb	C	T	10: 10,378,734 (GRCm38)	V1162M	probably benign	Het
Agrn	A	G	4: 156,173,889 (GRCm38)	V1040A	probably benign	Het
Amer3	A	T	1: 34,587,660 (GRCm38)	T327S	possibly damaging	Het
Apaf1	C	T	10: 91,059,658 (GRCm38)	C426Y	probably benign	Het
Bsn	T	C	9: 108,110,033 (GRCm38)	D2840G	unknown	Het
Camsap1	A	T	2: 25,944,428 (GRCm38)	C406*	probably null	Het
Cbr2	A	T	11: 120,730,297 (GRCm38)	M158K	probably damaging	Het
Ccdc105	G	C	10: 78,748,675 (GRCm38)	Q338E	probably benign	Het
Cgrrf1	T	C	14: 46,853,735 (GRCm38)	S239P	probably benign	Het
Clnk	C	A	5: 38,794,911 (GRCm38)		probably null	Het
Csad	T	C	15: 102,177,762 (GRCm38)	M445V	probably damaging	Het
Dnajb7	T	A	15: 81,407,399 (GRCm38)	N246Y	probably damaging	Het
Dok6	T	C	18: 89,473,947 (GRCm38)	I169V	probably benign	Het
Hist1h2bm	T	C	13: 21,722,461 (GRCm38)	Y122H	probably benign	Het
Il1f10	T	G	2: 24,291,255 (GRCm38)	I11R	possibly damaging	Het
Irs1	C	T	1: 82,289,533 (GRCm38)	V321M	probably damaging	Het
Itga9	T	C	9: 118,877,143 (GRCm38)	F938L	probably damaging	Het
Kif7	T	C	7: 79,704,694 (GRCm38)	D781G	probably damaging	Het
Klhl41	A	T	2: 69,671,161 (GRCm38)	N322I	probably damaging	Het
Krtap31-1	T	G	11: 99,908,075 (GRCm38)	C35G	possibly damaging	Het
Lsm11	A	T	11: 45,933,997 (GRCm38)	D234E	probably benign	Het
Med6	T	C	12: 81,573,903 (GRCm38)	K223R	probably benign	Het
Mfsd4b2	G	A	10: 39,922,068 (GRCm38)	T97I	probably benign	Het
Mrgpra1	A	T	7: 47,335,456 (GRCm38)	C158*	probably null	Het
Nr2e1	T	C	10: 42,582,885 (GRCm38)	T8A	probably benign	Het
Oas2	T	C	5: 120,749,773 (GRCm38)	M1V	probably null	Het
Olfr1048	T	C	2: 86,236,160 (GRCm38)	Y218C	probably damaging	Het
Olfr1132	T	A	2: 87,634,889 (GRCm38)	N286I	probably damaging	Het
Olfr307	T	A	7: 86,335,677 (GRCm38)	I240F	probably benign	Het
Olfr393	T	A	11: 73,847,871 (GRCm38)	M85L	probably benign	Het
Olfr60	T	C	7: 140,345,249 (GRCm38)	I247V	probably benign	Het
Phf2	T	C	13: 48,817,760 (GRCm38)	T479A	probably benign	Het
Pik3c2a	T	C	7: 116,342,997 (GRCm38)	N1516S	probably benign	Het
Qrich1	C	A	9: 108,556,037 (GRCm38)	T622K	probably damaging	Het
Rasip1	A	G	7: 45,632,519 (GRCm38)	K482R	probably damaging	Het
Rgl2	T	C	17: 33,936,944 (GRCm38)	F698L	probably benign	Het
Scarb1	T	C	5: 125,303,137 (GRCm38)	D124G	probably benign	Het
Sclt1	A	G	3: 41,671,482 (GRCm38)	I350T	probably benign	Het
Sec23ip	T	G	7: 128,767,640 (GRCm38)	V696G	probably damaging	Het
Serpina1e	G	T	12: 103,951,095 (GRCm38)	T105K	probably benign	Het
Sin3a	A	G	9: 57,113,544 (GRCm38)		probably null	Het
Slc34a2	A	G	5: 53,060,840 (GRCm38)	T154A	probably damaging	Het
Slc9a3	T	C	13: 74,155,122 (GRCm38)	L178P	probably damaging	Het
Smarca2	A	C	19: 26,682,048 (GRCm38)	I913L	probably benign	Het
Tcea3	G	A	4: 136,273,716 (GRCm38)		probably null	Het
Tmcc1	T	A	6: 116,043,474 (GRCm38)	H339L		Het
Trpm2	G	T	10: 77,947,897 (GRCm38)	H247Q	probably damaging	Het
Tyr	T	A	7: 87,472,516 (GRCm38)	D356V	probably damaging	Het
Vmn2r54	A	T	7: 12,615,961 (GRCm38)	C565S	probably damaging	Het
Vmn2r82	A	C	10: 79,377,802 (GRCm38)	N74T	probably benign	Het
Zcchc4	T	C	5: 52,815,918 (GRCm38)	Y375H	probably damaging	Het
Zfhx3	T	A	8: 108,948,721 (GRCm38)	D2134E	possibly damaging	Het
Zfhx4	T	A	3: 5,398,950 (GRCm38)	Y1414*	probably null	Het
Zfp282	A	T	6: 47,890,692 (GRCm38)	E267D	possibly damaging	Het
Zfp442	A	T	2: 150,409,176 (GRCm38)	C269S	possibly damaging	Het
Zp3	T	A	5: 135,985,564 (GRCm38)	S246T	probably benign	Het

Other mutations in Otof

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R5253:Otof	UTSW	5	30,370,139 (GRCm38)	missense	probably damaging	1.00
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
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'- TGCCTCCAGACAGTGCTATG -3'
(R):5'- CTGGATGCACAATGACCCAC -3'

Sequencing Primer
(F):5'- CTCCAGACAGTGCTATGTGATCAAG -3'
(R):5'- GATGCACAATGACCCACCCTTC -3'

Posted On

2020-06-30