Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02878:Otoa'

362705

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Otoa

Ensembl Gene

ENSMUSG00000034990

Gene Name

otoancorin

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02878

Quality Score

Status

Chromosome

Chromosomal Location

120682647-120762316 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120743076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 768 (F768L)

Ref Sequence

ENSEMBL: ENSMUSP00000044177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047025] [ENSMUST00000163275]

AlphaFold

Q8K561

Predicted Effect

probably damaging
Transcript: ENSMUST00000047025
AA Change: F768L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044177
Gene: ENSMUSG00000034990
AA Change: F768L

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	896	908	N/A	INTRINSIC
low complexity region	1072	1089	N/A	INTRINSIC
low complexity region	1124	1133	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163275

Predicted Effect

probably benign
Transcript: ENSMUST00000165409

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 specifically expressed in the inner ear, and is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that this protein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in this gene are associated with autosomal recessive deafness type 22 (DFNB22). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hearing loss, detachment of the tectorial membrane from the spiral limbus, abnormal tectorial membrane morphology, absence of Hensen's stripe and increased cochlear nerve coumpond action potential threshold. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,029,155 (GRCm39)	D801G	probably benign	Het
Abce1	T	C	8: 80,429,636 (GRCm39)	H95R	possibly damaging	Het
Axl	T	A	7: 25,458,302 (GRCm39)	M818L	probably damaging	Het
Cckbr	C	T	7: 105,083,238 (GRCm39)	A147V	probably damaging	Het
Cdc40	T	C	10: 40,719,118 (GRCm39)	D337G	probably damaging	Het
Cep70	T	C	9: 99,163,160 (GRCm39)		probably benign	Het
Cpeb1	C	T	7: 81,007,074 (GRCm39)	V318I	probably damaging	Het
Crlf1	G	A	8: 70,956,290 (GRCm39)		probably null	Het
Dnah6	A	T	6: 73,009,570 (GRCm39)	D3740E	probably benign	Het
Dnajc28	C	T	16: 91,413,329 (GRCm39)	R329Q	possibly damaging	Het
Ehmt2	T	C	17: 35,129,743 (GRCm39)	Y946H	probably damaging	Het
Gapdhs	C	T	7: 30,429,304 (GRCm39)		probably benign	Het
Gpr61	A	T	3: 108,057,344 (GRCm39)	L439H	probably damaging	Het
Klf9	G	T	19: 23,119,633 (GRCm39)		probably benign	Het
Krt73	T	C	15: 101,707,261 (GRCm39)	Y309C	probably damaging	Het
Lrrk1	T	C	7: 65,912,311 (GRCm39)	M1750V	probably benign	Het
Mc1r	G	T	8: 124,134,369 (GRCm39)	G41C	probably damaging	Het
Mecr	C	A	4: 131,582,019 (GRCm39)	A133E	probably damaging	Het
Mon2	T	C	10: 122,842,896 (GRCm39)	N1511S	probably benign	Het
Mrpl13	A	T	15: 55,403,595 (GRCm39)	L106*	probably null	Het
Mrpl48	A	T	7: 100,223,720 (GRCm39)	V1E	possibly damaging	Het
Myo1c	T	A	11: 75,559,859 (GRCm39)	W683R	possibly damaging	Het
Myo9a	G	A	9: 59,815,583 (GRCm39)		probably null	Het
Myrfl	A	T	10: 116,613,310 (GRCm39)	I831K	possibly damaging	Het
Neurl4	T	A	11: 69,797,657 (GRCm39)	Y671N	probably damaging	Het
Opalin	A	T	19: 41,056,108 (GRCm39)	D62E	probably benign	Het
Or1j18	A	T	2: 36,624,489 (GRCm39)	D52V	probably damaging	Het
Or7a41	G	T	10: 78,871,392 (GRCm39)	C254F	probably benign	Het
Pde4b	T	A	4: 102,458,836 (GRCm39)	N497K	probably damaging	Het
Plcl2	T	A	17: 50,914,383 (GRCm39)	L464Q	probably damaging	Het
Rfc3	A	G	5: 151,566,379 (GRCm39)	*357R	probably null	Het
Ryr2	A	G	13: 11,933,205 (GRCm39)	S89P	probably benign	Het
Sema3b	C	T	9: 107,478,192 (GRCm39)	V398I	probably damaging	Het
Setd3	A	G	12: 108,074,814 (GRCm39)		probably null	Het
Sgsh	T	C	11: 119,237,384 (GRCm39)	D410G	probably damaging	Het
Slc9a3	G	T	13: 74,313,476 (GRCm39)	E730*	probably null	Het
Sptb	A	G	12: 76,667,527 (GRCm39)	S857P	probably benign	Het
Tmem132c	T	C	5: 127,640,154 (GRCm39)	L775P	probably damaging	Het
Togaram1	T	C	12: 65,039,400 (GRCm39)	V1158A	possibly damaging	Het
Ttn	A	G	2: 76,607,222 (GRCm39)	F17934L	probably damaging	Het
Ube3b	T	C	5: 114,542,778 (GRCm39)		probably null	Het
Ydjc	A	G	16: 16,965,469 (GRCm39)	E111G	possibly damaging	Het
Zp3r	T	A	1: 130,510,588 (GRCm39)	H443L	probably benign	Het

Other mutations in Otoa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01469:Otoa	APN	7	120,754,496 (GRCm39)	critical splice donor site	probably null
IGL01791:Otoa	APN	7	120,755,072 (GRCm39)	missense	probably benign	0.25
IGL01924:Otoa	APN	7	120,705,191 (GRCm39)	missense	probably damaging	0.99
IGL01953:Otoa	APN	7	120,759,548 (GRCm39)	splice site	probably null
IGL02121:Otoa	APN	7	120,721,247 (GRCm39)	missense	probably benign	0.06
IGL02303:Otoa	APN	7	120,732,147 (GRCm39)	critical splice donor site	probably null
IGL02390:Otoa	APN	7	120,730,590 (GRCm39)	missense	possibly damaging	0.84
IGL02591:Otoa	APN	7	120,755,053 (GRCm39)	missense	probably damaging	1.00
IGL02811:Otoa	APN	7	120,717,878 (GRCm39)	missense	possibly damaging	0.60
IGL03328:Otoa	APN	7	120,710,217 (GRCm39)	missense	probably damaging	0.98
R0056:Otoa	UTSW	7	120,730,570 (GRCm39)	missense	probably benign	0.00
R0279:Otoa	UTSW	7	120,710,302 (GRCm39)	splice site	probably benign
R0390:Otoa	UTSW	7	120,730,564 (GRCm39)	missense	probably benign	0.07
R0411:Otoa	UTSW	7	120,755,750 (GRCm39)	critical splice donor site	probably null
R0628:Otoa	UTSW	7	120,744,873 (GRCm39)	splice site	probably benign
R1113:Otoa	UTSW	7	120,724,666 (GRCm39)	nonsense	probably null
R1240:Otoa	UTSW	7	120,755,713 (GRCm39)	missense	probably benign
R1308:Otoa	UTSW	7	120,724,666 (GRCm39)	nonsense	probably null
R1692:Otoa	UTSW	7	120,690,774 (GRCm39)	missense	probably damaging	0.99
R1728:Otoa	UTSW	7	120,724,662 (GRCm39)	missense	probably benign	0.36
R1729:Otoa	UTSW	7	120,724,662 (GRCm39)	missense	probably benign	0.36
R1744:Otoa	UTSW	7	120,726,999 (GRCm39)	splice site	probably benign
R1759:Otoa	UTSW	7	120,733,326 (GRCm39)	missense	probably damaging	1.00
R1784:Otoa	UTSW	7	120,724,662 (GRCm39)	missense	probably benign	0.36
R1817:Otoa	UTSW	7	120,759,753 (GRCm39)	utr 3 prime	probably benign
R1961:Otoa	UTSW	7	120,717,792 (GRCm39)	missense	probably benign	0.05
R2061:Otoa	UTSW	7	120,730,551 (GRCm39)	missense	probably damaging	1.00
R2509:Otoa	UTSW	7	120,759,695 (GRCm39)	missense	probably benign
R2510:Otoa	UTSW	7	120,759,695 (GRCm39)	missense	probably benign
R3411:Otoa	UTSW	7	120,721,266 (GRCm39)	missense	probably damaging	1.00
R3438:Otoa	UTSW	7	120,759,566 (GRCm39)	missense	possibly damaging	0.80
R3905:Otoa	UTSW	7	120,724,788 (GRCm39)	missense	probably damaging	1.00
R3907:Otoa	UTSW	7	120,724,788 (GRCm39)	missense	probably damaging	1.00
R4613:Otoa	UTSW	7	120,744,791 (GRCm39)	missense	probably damaging	1.00
R4751:Otoa	UTSW	7	120,732,147 (GRCm39)	critical splice donor site	probably benign
R4896:Otoa	UTSW	7	120,701,902 (GRCm39)	missense	probably damaging	1.00
R4932:Otoa	UTSW	7	120,754,358 (GRCm39)	missense	probably damaging	0.98
R5224:Otoa	UTSW	7	120,739,016 (GRCm39)	missense	probably damaging	0.98
R5235:Otoa	UTSW	7	120,755,693 (GRCm39)	missense	probably damaging	1.00
R5595:Otoa	UTSW	7	120,721,200 (GRCm39)	missense	probably damaging	1.00
R5891:Otoa	UTSW	7	120,731,583 (GRCm39)	splice site	probably null
R5894:Otoa	UTSW	7	120,721,092 (GRCm39)	missense	probably damaging	1.00
R5905:Otoa	UTSW	7	120,693,824 (GRCm39)	missense	probably damaging	1.00
R5976:Otoa	UTSW	7	120,726,936 (GRCm39)	missense	probably benign	0.00
R6464:Otoa	UTSW	7	120,701,828 (GRCm39)	missense	probably damaging	1.00
R6761:Otoa	UTSW	7	120,721,173 (GRCm39)	missense	probably damaging	1.00
R6770:Otoa	UTSW	7	120,744,837 (GRCm39)	missense	probably benign	0.25
R6821:Otoa	UTSW	7	120,692,070 (GRCm39)	critical splice donor site	probably null
R6924:Otoa	UTSW	7	120,730,724 (GRCm39)	splice site	probably null
R7016:Otoa	UTSW	7	120,746,989 (GRCm39)	missense	probably damaging	0.99
R7215:Otoa	UTSW	7	120,717,795 (GRCm39)	missense	unknown
R7313:Otoa	UTSW	7	120,701,765 (GRCm39)	missense	probably benign	0.42
R7340:Otoa	UTSW	7	120,729,288 (GRCm39)	missense	probably benign	0.38
R7443:Otoa	UTSW	7	120,731,633 (GRCm39)	missense	probably benign	0.00
R7559:Otoa	UTSW	7	120,743,149 (GRCm39)	missense	probably damaging	0.99
R7640:Otoa	UTSW	7	120,744,849 (GRCm39)	missense	probably damaging	1.00
R7654:Otoa	UTSW	7	120,746,923 (GRCm39)	missense	probably damaging	1.00
R7659:Otoa	UTSW	7	120,733,267 (GRCm39)	missense	probably benign	0.01
R8421:Otoa	UTSW	7	120,698,491 (GRCm39)	critical splice donor site	probably null
R8799:Otoa	UTSW	7	120,691,894 (GRCm39)	missense	possibly damaging	0.56
R8954:Otoa	UTSW	7	120,744,741 (GRCm39)	nonsense	probably null
R9099:Otoa	UTSW	7	120,739,055 (GRCm39)	missense	probably benign
R9126:Otoa	UTSW	7	120,693,845 (GRCm39)	missense	probably damaging	1.00
R9369:Otoa	UTSW	7	120,744,840 (GRCm39)	missense	probably benign	0.23
U24488:Otoa	UTSW	7	120,717,763 (GRCm39)	critical splice acceptor site	probably null
X0023:Otoa	UTSW	7	120,717,794 (GRCm39)	missense	probably benign	0.00
Z1177:Otoa	UTSW	7	120,717,878 (GRCm39)	missense	probably benign	0.00

Posted On

2015-12-18