Mutagenetix > Incidental Mutation

Incidental Mutation 'R0844:Otog'

77291

Institutional Source

Beutler Lab

Gene Symbol

Otog

Ensembl Gene

ENSMUSG00000009487

Gene Name

otogelin

Synonyms

Otgn

MMRRC Submission

039023-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.770) question?

Stock #

R0844 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45890411-45960858 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45937252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1654 (S1654P)

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: S1654P

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130949
Gene: ENSMUSG00000009487
AA Change: S1654P

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

Meta Mutation Damage Score

0.1121

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 95.8%

Validation Efficiency

100% (27/27)

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	T	C	12: 55,126,858 (GRCm39)	D2G	possibly damaging	Het
Abca5	T	C	11: 110,210,658 (GRCm39)	T174A	probably benign	Het
Asb2	T	C	12: 103,291,805 (GRCm39)	H374R	probably damaging	Het
Clca4b	A	G	3: 144,622,532 (GRCm39)	I511T	probably damaging	Het
Cnmd	G	A	14: 79,879,391 (GRCm39)	T249I	probably benign	Het
Cyp4a12b	T	G	4: 115,289,721 (GRCm39)	M196R	possibly damaging	Het
Ddx60	T	C	8: 62,440,395 (GRCm39)	Y1016H	probably benign	Het
Elapor1	T	C	3: 108,388,279 (GRCm39)		probably benign	Het
Ero1a	A	G	14: 45,530,457 (GRCm39)	L325P	probably damaging	Het
Etv1	T	C	12: 38,911,353 (GRCm39)	L393P	probably damaging	Het
Fdx1	G	T	9: 51,859,909 (GRCm39)	D33E	probably damaging	Het
Gpr180	T	C	14: 118,395,359 (GRCm39)	C264R	probably damaging	Het
Grik2	A	T	10: 48,977,211 (GRCm39)	M907K	possibly damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Klrh1	C	G	6: 129,752,756 (GRCm39)	K16N	possibly damaging	Het
Mpdz	A	G	4: 81,339,431 (GRCm39)		probably benign	Het
Myo9b	C	T	8: 71,743,119 (GRCm39)	S60L	probably benign	Het
Naxe	A	T	3: 87,965,715 (GRCm39)	V28E	probably benign	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Setd1b	C	T	5: 123,298,748 (GRCm39)		probably benign	Het
Spag17	A	G	3: 99,912,101 (GRCm39)	T324A	probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tbc1d12	G	T	19: 38,825,515 (GRCm39)	R122L	probably benign	Het
Tmx4	A	G	2: 134,441,928 (GRCm39)		probably null	Het
Trnt1	A	G	6: 106,751,464 (GRCm39)	D147G	probably damaging	Het
Trpm7	A	T	2: 126,677,428 (GRCm39)	V463E	probably damaging	Het
Wdr82	G	A	9: 106,065,780 (GRCm39)		probably benign	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
IGL02330:Otog	APN	7	45,937,493 (GRCm39)	missense	possibly damaging	0.84
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
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

Predicted Primers

PCR Primer
(F):5'- TTACAGGGAGTCCCAACACCACTG -3'
(R):5'- CATGAGTGGCACTGTCAGACTGAG -3'

Sequencing Primer
(F):5'- AACACCACTGTCGCTTCC -3'
(R):5'- ACTGGCAACTCTGTAAGCTG -3'

Posted On

2013-10-16