Mutagenetix > Incidental Mutation

Incidental Mutation 'R0392:Otog'

31758

Institutional Source

Beutler Lab

Gene Symbol

Otog

Ensembl Gene

ENSMUSG00000009487

Gene Name

otogelin

Synonyms

Otgn

MMRRC Submission

038598-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.770) question?

Stock #

R0392 (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 45899499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 267 (W267R)

Ref Sequence

ENSEMBL: ENSMUSP00000130949 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000164538
AA Change: W267R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000130949
Gene: ENSMUSG00000009487
AA Change: W267R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210281

Meta Mutation Damage Score

0.0668

Coding Region Coverage

1x: 99.1%
3x: 98.0%
10x: 95.5%
20x: 90.6%

Validation Efficiency

100% (31/31)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930527J03Rik	ACCC	ACC	1: 178,276,503 (GRCm38)		noncoding transcript	Het
Bcan	T	A	3: 87,900,869 (GRCm39)	K455*	probably null	Het
Casp12	T	A	9: 5,348,973 (GRCm39)		probably benign	Het
Ccdc61	T	C	7: 18,625,027 (GRCm39)	M504V	probably benign	Het
Cd53	A	T	3: 106,670,592 (GRCm39)	V147E	probably damaging	Het
Cyp2b13	T	C	7: 25,785,308 (GRCm39)	Y226H	probably benign	Het
Cyp2j7	T	C	4: 96,087,671 (GRCm39)	D413G	probably damaging	Het
Dcbld1	T	C	10: 52,193,230 (GRCm39)	I254T	possibly damaging	Het
Ddx39a	T	G	8: 84,448,366 (GRCm39)	M206R	probably damaging	Het
Dgki	T	A	6: 36,977,113 (GRCm39)	T666S	probably damaging	Het
Dnaaf8	T	C	16: 4,795,363 (GRCm39)		noncoding transcript	Het
Dnah7a	C	A	1: 53,543,357 (GRCm39)	C2271F	probably damaging	Het
Emilin3	A	G	2: 160,752,799 (GRCm39)		probably benign	Het
Epha4	T	C	1: 77,483,610 (GRCm39)	K133R	probably benign	Het
Gm11146	T	A	16: 77,394,054 (GRCm39)		probably benign	Het
Ift88	A	T	14: 57,733,617 (GRCm39)		probably benign	Het
Ighv10-3	A	G	12: 114,487,460 (GRCm39)		probably benign	Het
Lamp5	T	C	2: 135,902,817 (GRCm39)	S179P	probably damaging	Het
Map4	T	C	9: 109,907,113 (GRCm39)	S788P	probably damaging	Het
Or5m13	T	A	2: 85,749,106 (GRCm39)	I279N	possibly damaging	Het
Pafah1b2	T	C	9: 45,880,151 (GRCm39)	I175M	probably benign	Het
Pcdhb12	A	G	18: 37,570,011 (GRCm39)	K386E	possibly damaging	Het
Pcnt	T	C	10: 76,220,660 (GRCm39)	N2056S	probably benign	Het
Pold2	T	C	11: 5,826,776 (GRCm39)	I53V	possibly damaging	Het
Rsf1	T	A	7: 97,328,212 (GRCm39)	D1071E	probably benign	Het
Rtp3	A	T	9: 110,818,621 (GRCm39)	M20K	probably damaging	Het
S1pr5	T	A	9: 21,156,277 (GRCm39)	I50F	probably damaging	Het
Slc47a1	A	G	11: 61,262,608 (GRCm39)	S94P	probably damaging	Het
Slitrk5	G	A	14: 111,916,465 (GRCm39)	V30I	probably benign	Het
St8sia5	G	A	18: 77,342,102 (GRCm39)	V271M	probably damaging	Het
Sult2b1	G	T	7: 45,383,062 (GRCm39)	T240N	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGTGTGGACACTCTGCATCCCTG -3'
(R):5'- GGCTGAGAACATGCCTAACGTGAC -3'

Sequencing Primer
(F):5'- TGCATCCCTGGGCTTTG -3'
(R):5'- AAGCGAGCCCTTGTCTCC -3'

Posted On

2013-04-24