Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02330:Otog'

288642

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Otog

Ensembl Gene

ENSMUSG00000009487

Gene Name

otogelin

Synonyms

Otgn

Accession Numbers

Essential gene?

Probably essential (E-score: 0.770) question?

Stock #

IGL02330

Quality Score

Status

Chromosome

Chromosomal Location

45890411-45960858 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45937493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 1734 (S1734F)

Ref Sequence

ENSEMBL: ENSMUSP00000130949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164538]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164538
AA Change: S1734F

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130949
Gene: ENSMUSG00000009487
AA Change: S1734F

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	72	85	N/A	INTRINSIC
VWD	128	288	7.98e-45	SMART
C8	330	404	1.05e-13	SMART
VWC	463	505	1.24e0	SMART
VWD	490	655	4.94e-50	SMART
C8	693	758	1.23e-5	SMART
Pfam:TIL	767	831	3.4e-13	PFAM
VWC	935	983	1.83e0	SMART
VWD	962	1118	6.05e-45	SMART
C8	1153	1227	1.02e-34	SMART
Pfam:AbfB	1270	1384	7.5e-10	PFAM
low complexity region	1488	1513	N/A	INTRINSIC
low complexity region	1524	1536	N/A	INTRINSIC
low complexity region	1560	1578	N/A	INTRINSIC
low complexity region	1637	1644	N/A	INTRINSIC
low complexity region	1677	1696	N/A	INTRINSIC
low complexity region	1731	1748	N/A	INTRINSIC
VWD	2087	2251	2.37e-29	SMART
C8	2287	2356	4.93e-19	SMART
low complexity region	2443	2449	N/A	INTRINSIC
CT	2828	2911	3.46e-28	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygotes for a number of different spontaneous and targeted mutations exhibit vestibular dysfunction, including circling, head tilt, impaired balance, coordination, and placing response. Mutants have impaired hearing, decreased brain stem auditory evoked potential, and ear abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	T	8: 56,325,398 (GRCm39)	I352K	probably benign	Het
Atp8a1	T	C	5: 67,970,520 (GRCm39)	N73S	probably damaging	Het
Cilp	T	C	9: 65,181,804 (GRCm39)		probably benign	Het
Csf2rb2	C	T	15: 78,169,328 (GRCm39)	G500D	possibly damaging	Het
Cyp4a14	A	C	4: 115,352,224 (GRCm39)		probably benign	Het
Dagla	T	G	19: 10,225,386 (GRCm39)	D926A	probably damaging	Het
Ddr2	T	A	1: 169,816,093 (GRCm39)	Y538F	probably damaging	Het
Eng	T	A	2: 32,559,581 (GRCm39)		probably null	Het
Fbxo24	G	T	5: 137,619,579 (GRCm39)	L99M	probably damaging	Het
Fmn2	A	G	1: 174,437,511 (GRCm39)	S1161G	probably benign	Het
Foxp1	T	C	6: 98,922,373 (GRCm39)	N453D	probably damaging	Het
Fut8	A	G	12: 77,497,017 (GRCm39)	D409G	probably damaging	Het
Hmces	A	G	6: 87,891,517 (GRCm39)	H8R	probably damaging	Het
Ing3	T	C	6: 21,952,120 (GRCm39)	C44R	probably benign	Het
Itga1	T	A	13: 115,148,740 (GRCm39)	I294F	probably damaging	Het
Mov10l1	T	A	15: 88,910,693 (GRCm39)	S976T	probably damaging	Het
Myo15a	A	G	11: 60,367,987 (GRCm39)	Y249C	possibly damaging	Het
Nop56	T	C	2: 130,118,686 (GRCm39)	S273P	probably damaging	Het
Or10a48	A	T	7: 108,425,206 (GRCm39)		probably benign	Het
Or1j21	C	T	2: 36,683,907 (GRCm39)	H220Y	probably benign	Het
Phc3	T	G	3: 30,990,530 (GRCm39)	E562D	probably damaging	Het
Ralb	A	T	1: 119,399,450 (GRCm39)	C203S	probably damaging	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Sf3b4	A	T	3: 96,080,376 (GRCm39)	T42S	possibly damaging	Het
Sgsm2	T	C	11: 74,749,493 (GRCm39)	T584A	probably benign	Het
Slco5a1	T	C	1: 13,009,284 (GRCm39)	K397R	probably damaging	Het
Trim30c	A	G	7: 104,032,165 (GRCm39)	Y299H	possibly damaging	Het
Trip6	T	C	5: 137,311,620 (GRCm39)	D119G	probably benign	Het
Uap1	A	T	1: 169,977,896 (GRCm39)	I385N	possibly damaging	Het
Vmn1r123	T	A	7: 20,896,969 (GRCm39)	I287N	probably damaging	Het
Vwce	T	C	19: 10,624,165 (GRCm39)	L352P	possibly damaging	Het
Xrn1	T	A	9: 95,855,401 (GRCm39)	Y260*	probably null	Het
Zfp738	T	C	13: 67,819,550 (GRCm39)	Y147C	probably damaging	Het

Other mutations in Otog

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Otog	APN	7	45,900,706 (GRCm39)	missense	probably damaging	1.00
IGL00725:Otog	APN	7	45,923,516 (GRCm39)	missense	probably damaging	1.00
IGL00757:Otog	APN	7	45,939,552 (GRCm39)	missense	probably damaging	1.00
IGL00822:Otog	APN	7	45,945,304 (GRCm39)	missense	probably benign	0.24
IGL01354:Otog	APN	7	45,939,150 (GRCm39)	missense	probably damaging	1.00
IGL01567:Otog	APN	7	45,926,039 (GRCm39)	splice site	probably benign
IGL02034:Otog	APN	7	45,945,417 (GRCm39)	nonsense	probably null
IGL02090:Otog	APN	7	45,949,571 (GRCm39)	missense	probably damaging	1.00
IGL02132:Otog	APN	7	45,954,903 (GRCm39)	missense	probably damaging	0.99
IGL02148:Otog	APN	7	45,950,011 (GRCm39)	missense	probably damaging	1.00
IGL02173:Otog	APN	7	45,926,165 (GRCm39)	splice site	probably benign
IGL02199:Otog	APN	7	45,926,775 (GRCm39)	missense	possibly damaging	0.90
IGL02216:Otog	APN	7	45,950,892 (GRCm39)	missense	probably damaging	1.00
IGL02322:Otog	APN	7	45,950,881 (GRCm39)	missense	probably benign	0.01
IGL02529:Otog	APN	7	45,909,381 (GRCm39)	missense	probably damaging	0.99
IGL02898:Otog	APN	7	45,959,562 (GRCm39)	missense	probably damaging	1.00
IGL02970:Otog	APN	7	45,945,291 (GRCm39)	missense	probably benign	0.11
IGL03085:Otog	APN	7	45,955,346 (GRCm39)	critical splice donor site	probably null
IGL03108:Otog	APN	7	45,900,762 (GRCm39)	missense	probably damaging	1.00
IGL03275:Otog	APN	7	45,955,654 (GRCm39)	missense	probably damaging	1.00
R0282_Otog_616	UTSW	7	45,926,917 (GRCm39)	missense	possibly damaging	0.93
R0636_otog_678	UTSW	7	45,913,652 (GRCm39)	critical splice donor site	probably null
R1029_otog_141	UTSW	7	45,924,019 (GRCm39)	missense	probably damaging	1.00
BB010:Otog	UTSW	7	45,959,571 (GRCm39)	missense	probably damaging	1.00
BB020:Otog	UTSW	7	45,959,571 (GRCm39)	missense	probably damaging	1.00
I1329:Otog	UTSW	7	45,895,927 (GRCm39)	missense	probably benign	0.02
IGL02984:Otog	UTSW	7	45,954,932 (GRCm39)	missense	probably damaging	0.98
PIT4472001:Otog	UTSW	7	45,945,273 (GRCm39)	missense	probably damaging	1.00
R0032:Otog	UTSW	7	45,953,655 (GRCm39)	missense	probably damaging	0.97
R0032:Otog	UTSW	7	45,937,637 (GRCm39)	nonsense	probably null
R0105:Otog	UTSW	7	45,937,790 (GRCm39)	missense	possibly damaging	0.79
R0164:Otog	UTSW	7	45,953,655 (GRCm39)	missense	probably damaging	0.97
R0164:Otog	UTSW	7	45,953,655 (GRCm39)	missense	probably damaging	0.97
R0165:Otog	UTSW	7	45,953,655 (GRCm39)	missense	probably damaging	0.97
R0166:Otog	UTSW	7	45,953,655 (GRCm39)	missense	probably damaging	0.97
R0167:Otog	UTSW	7	45,953,655 (GRCm39)	missense	probably damaging	0.97
R0240:Otog	UTSW	7	45,913,456 (GRCm39)	splice site	probably null
R0240:Otog	UTSW	7	45,913,456 (GRCm39)	splice site	probably null
R0242:Otog	UTSW	7	45,916,805 (GRCm39)	missense	probably damaging	0.98
R0242:Otog	UTSW	7	45,916,805 (GRCm39)	missense	probably damaging	0.98
R0282:Otog	UTSW	7	45,926,917 (GRCm39)	missense	possibly damaging	0.93
R0392:Otog	UTSW	7	45,899,499 (GRCm39)	missense	probably benign	0.00
R0436:Otog	UTSW	7	45,915,360 (GRCm39)	splice site	probably benign
R0441:Otog	UTSW	7	45,955,301 (GRCm39)	missense	probably damaging	1.00
R0499:Otog	UTSW	7	45,923,256 (GRCm39)	missense	probably damaging	1.00
R0530:Otog	UTSW	7	45,947,668 (GRCm39)	missense	probably damaging	0.98
R0541:Otog	UTSW	7	45,918,673 (GRCm39)	splice site	probably benign
R0600:Otog	UTSW	7	45,900,819 (GRCm39)	splice site	probably benign
R0626:Otog	UTSW	7	45,920,797 (GRCm39)	missense	possibly damaging	0.95
R0636:Otog	UTSW	7	45,913,652 (GRCm39)	critical splice donor site	probably null
R0764:Otog	UTSW	7	45,949,918 (GRCm39)	missense	probably benign	0.00
R0833:Otog	UTSW	7	45,918,786 (GRCm39)	missense	possibly damaging	0.94
R0836:Otog	UTSW	7	45,918,786 (GRCm39)	missense	possibly damaging	0.94
R0844:Otog	UTSW	7	45,937,252 (GRCm39)	missense	possibly damaging	0.53
R1029:Otog	UTSW	7	45,924,019 (GRCm39)	missense	probably damaging	1.00
R1116:Otog	UTSW	7	45,950,025 (GRCm39)	splice site	probably benign
R1134:Otog	UTSW	7	45,947,938 (GRCm39)	missense	probably damaging	1.00
R1183:Otog	UTSW	7	45,939,179 (GRCm39)	missense	probably benign	0.41
R1204:Otog	UTSW	7	45,909,335 (GRCm39)	missense	probably benign	0.16
R1301:Otog	UTSW	7	45,939,113 (GRCm39)	missense	probably damaging	1.00
R1344:Otog	UTSW	7	45,924,039 (GRCm39)	missense	probably damaging	1.00
R1384:Otog	UTSW	7	45,923,119 (GRCm39)	splice site	probably benign
R1418:Otog	UTSW	7	45,924,039 (GRCm39)	missense	probably damaging	1.00
R1432:Otog	UTSW	7	45,950,007 (GRCm39)	missense	probably damaging	1.00
R1479:Otog	UTSW	7	45,945,402 (GRCm39)	missense	possibly damaging	0.75
R1521:Otog	UTSW	7	45,908,688 (GRCm39)	missense	possibly damaging	0.71
R1589:Otog	UTSW	7	45,933,332 (GRCm39)	missense	probably benign	0.18
R1671:Otog	UTSW	7	45,911,210 (GRCm39)	missense	probably damaging	1.00
R1773:Otog	UTSW	7	45,937,583 (GRCm39)	missense	probably benign	0.28
R1806:Otog	UTSW	7	45,940,361 (GRCm39)	critical splice acceptor site	probably null
R1843:Otog	UTSW	7	45,895,707 (GRCm39)	missense	probably damaging	1.00
R1873:Otog	UTSW	7	45,918,767 (GRCm39)	missense	probably damaging	1.00
R1923:Otog	UTSW	7	45,895,707 (GRCm39)	missense	probably damaging	1.00
R1927:Otog	UTSW	7	45,895,707 (GRCm39)	missense	probably damaging	1.00
R2008:Otog	UTSW	7	45,913,498 (GRCm39)	missense	probably benign	0.43
R2048:Otog	UTSW	7	45,937,063 (GRCm39)	missense	probably damaging	1.00
R2131:Otog	UTSW	7	45,899,524 (GRCm39)	missense	probably damaging	1.00
R2153:Otog	UTSW	7	45,952,328 (GRCm39)	missense	probably damaging	1.00
R2240:Otog	UTSW	7	45,890,453 (GRCm39)	start codon destroyed	probably null
R2278:Otog	UTSW	7	45,949,468 (GRCm39)	missense	probably damaging	1.00
R2407:Otog	UTSW	7	45,890,964 (GRCm39)	missense	probably benign	0.10
R2424:Otog	UTSW	7	45,947,593 (GRCm39)	nonsense	probably null
R2513:Otog	UTSW	7	45,955,014 (GRCm39)	critical splice donor site	probably null
R2863:Otog	UTSW	7	45,918,730 (GRCm39)	missense	probably damaging	1.00
R3148:Otog	UTSW	7	45,939,593 (GRCm39)	missense	probably damaging	1.00
R3732:Otog	UTSW	7	45,937,792 (GRCm39)	missense	probably benign	0.03
R3732:Otog	UTSW	7	45,937,792 (GRCm39)	missense	probably benign	0.03
R3733:Otog	UTSW	7	45,937,792 (GRCm39)	missense	probably benign	0.03
R3734:Otog	UTSW	7	45,937,792 (GRCm39)	missense	probably benign	0.03
R3855:Otog	UTSW	7	45,923,184 (GRCm39)	missense	possibly damaging	0.65
R3880:Otog	UTSW	7	45,937,445 (GRCm39)	missense	possibly damaging	0.93
R4081:Otog	UTSW	7	45,937,723 (GRCm39)	missense	possibly damaging	0.92
R4349:Otog	UTSW	7	45,923,613 (GRCm39)	missense	probably damaging	0.99
R4382:Otog	UTSW	7	45,939,122 (GRCm39)	missense	probably damaging	1.00
R4392:Otog	UTSW	7	45,934,548 (GRCm39)	missense	probably damaging	0.98
R4520:Otog	UTSW	7	45,890,477 (GRCm39)	unclassified	probably benign
R4569:Otog	UTSW	7	45,959,571 (GRCm39)	missense	probably damaging	1.00
R4580:Otog	UTSW	7	45,937,225 (GRCm39)	missense	possibly damaging	0.78
R4672:Otog	UTSW	7	45,939,210 (GRCm39)	missense	probably damaging	0.98
R4764:Otog	UTSW	7	45,937,943 (GRCm39)	missense	probably benign	0.29
R4910:Otog	UTSW	7	45,947,958 (GRCm39)	missense	probably damaging	1.00
R4910:Otog	UTSW	7	45,913,486 (GRCm39)	missense	probably damaging	1.00
R4913:Otog	UTSW	7	45,913,526 (GRCm39)	missense	probably benign	0.31
R4975:Otog	UTSW	7	45,937,415 (GRCm39)	missense	probably benign	0.00
R4996:Otog	UTSW	7	45,954,934 (GRCm39)	nonsense	probably null
R4996:Otog	UTSW	7	45,948,030 (GRCm39)	missense	possibly damaging	0.51
R5116:Otog	UTSW	7	45,923,191 (GRCm39)	missense	probably benign	0.34
R5138:Otog	UTSW	7	45,899,430 (GRCm39)	missense	possibly damaging	0.61
R5169:Otog	UTSW	7	45,947,572 (GRCm39)	missense	probably benign	0.06
R5239:Otog	UTSW	7	45,936,859 (GRCm39)	missense	probably benign	0.15
R5277:Otog	UTSW	7	45,896,045 (GRCm39)	missense	possibly damaging	0.89
R5287:Otog	UTSW	7	45,918,753 (GRCm39)	missense	probably damaging	0.98
R5299:Otog	UTSW	7	45,938,275 (GRCm39)	missense	probably benign	0.16
R5378:Otog	UTSW	7	45,904,428 (GRCm39)	missense	probably damaging	1.00
R5382:Otog	UTSW	7	45,898,428 (GRCm39)	missense	probably damaging	1.00
R5487:Otog	UTSW	7	45,938,192 (GRCm39)	missense	probably benign	0.27
R5507:Otog	UTSW	7	45,911,123 (GRCm39)	missense	probably damaging	1.00
R5517:Otog	UTSW	7	45,923,995 (GRCm39)	missense	probably damaging	1.00
R5643:Otog	UTSW	7	45,936,871 (GRCm39)	missense	probably damaging	1.00
R5757:Otog	UTSW	7	45,890,545 (GRCm39)	critical splice donor site	probably null
R5910:Otog	UTSW	7	45,948,022 (GRCm39)	missense	possibly damaging	0.94
R6019:Otog	UTSW	7	45,938,374 (GRCm39)	missense	probably benign	0.00
R6150:Otog	UTSW	7	45,913,483 (GRCm39)	missense	possibly damaging	0.82
R6225:Otog	UTSW	7	45,898,458 (GRCm39)	missense	possibly damaging	0.67
R6271:Otog	UTSW	7	45,901,464 (GRCm39)	missense	probably damaging	1.00
R6317:Otog	UTSW	7	45,950,639 (GRCm39)	missense	probably damaging	1.00
R6454:Otog	UTSW	7	45,955,241 (GRCm39)	missense	probably damaging	1.00
R6640:Otog	UTSW	7	45,911,167 (GRCm39)	missense	possibly damaging	0.92
R6753:Otog	UTSW	7	45,898,495 (GRCm39)	missense	probably benign	0.06
R6788:Otog	UTSW	7	45,947,741 (GRCm39)	missense	probably damaging	1.00
R6859:Otog	UTSW	7	45,923,205 (GRCm39)	missense	probably damaging	0.96
R7033:Otog	UTSW	7	45,916,822 (GRCm39)	critical splice donor site	probably null
R7071:Otog	UTSW	7	45,916,747 (GRCm39)	missense	probably damaging	1.00
R7084:Otog	UTSW	7	45,947,990 (GRCm39)	nonsense	probably null
R7116:Otog	UTSW	7	45,947,689 (GRCm39)	missense	probably damaging	0.99
R7202:Otog	UTSW	7	45,937,474 (GRCm39)	missense	probably damaging	0.97
R7365:Otog	UTSW	7	45,947,732 (GRCm39)	missense	probably damaging	1.00
R7468:Otog	UTSW	7	45,913,543 (GRCm39)	missense	probably benign
R7475:Otog	UTSW	7	45,916,700 (GRCm39)	missense	probably damaging	0.99
R7502:Otog	UTSW	7	45,948,039 (GRCm39)	missense	probably damaging	1.00
R7558:Otog	UTSW	7	45,952,584 (GRCm39)	missense	probably damaging	0.99
R7577:Otog	UTSW	7	45,937,279 (GRCm39)	missense	possibly damaging	0.62
R7651:Otog	UTSW	7	45,891,185 (GRCm39)	missense	probably benign	0.00
R7689:Otog	UTSW	7	45,901,480 (GRCm39)	missense	probably damaging	1.00
R7806:Otog	UTSW	7	45,935,200 (GRCm39)	missense	probably benign
R7933:Otog	UTSW	7	45,959,571 (GRCm39)	missense	probably damaging	1.00
R8021:Otog	UTSW	7	45,916,766 (GRCm39)	missense	probably damaging	0.98
R8082:Otog	UTSW	7	45,939,143 (GRCm39)	missense	probably damaging	1.00
R8531:Otog	UTSW	7	45,901,473 (GRCm39)	missense	probably damaging	0.99
R8772:Otog	UTSW	7	45,934,352 (GRCm39)	missense	probably damaging	1.00
R8816:Otog	UTSW	7	45,950,905 (GRCm39)	missense	possibly damaging	0.92
R8842:Otog	UTSW	7	45,895,948 (GRCm39)	missense	probably damaging	1.00
R8987:Otog	UTSW	7	45,936,878 (GRCm39)	missense	probably benign	0.43
R8988:Otog	UTSW	7	45,959,571 (GRCm39)	missense	probably damaging	1.00
R9010:Otog	UTSW	7	45,949,894 (GRCm39)	missense	probably benign	0.00
R9025:Otog	UTSW	7	45,937,520 (GRCm39)	missense	probably benign	0.13
R9131:Otog	UTSW	7	45,952,597 (GRCm39)	nonsense	probably null
R9179:Otog	UTSW	7	45,937,885 (GRCm39)	missense	possibly damaging	0.65
R9334:Otog	UTSW	7	45,909,353 (GRCm39)	missense	possibly damaging	0.95
R9365:Otog	UTSW	7	45,920,688 (GRCm39)	missense	probably damaging	1.00
R9408:Otog	UTSW	7	45,916,721 (GRCm39)	missense	possibly damaging	0.79
R9418:Otog	UTSW	7	45,938,024 (GRCm39)	missense	probably benign	0.41
R9465:Otog	UTSW	7	45,955,299 (GRCm39)	missense	possibly damaging	0.80
R9496:Otog	UTSW	7	45,890,505 (GRCm39)	missense	unknown
R9632:Otog	UTSW	7	45,915,143 (GRCm39)	missense	probably benign	0.27
R9656:Otog	UTSW	7	45,959,567 (GRCm39)	missense	probably damaging	1.00
RF024:Otog	UTSW	7	45,937,093 (GRCm39)	missense	probably damaging	1.00
X0062:Otog	UTSW	7	45,909,345 (GRCm39)	missense	probably damaging	1.00
Z1177:Otog	UTSW	7	45,939,164 (GRCm39)	missense	probably damaging	1.00
Z1177:Otog	UTSW	7	45,923,962 (GRCm39)	missense	probably damaging	1.00
Z1177:Otog	UTSW	7	45,912,276 (GRCm39)	missense	possibly damaging	0.80
Z1177:Otog	UTSW	7	45,959,409 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16