Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02303:Otoa'

287487

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 #

IGL02303

Quality Score

Status

Chromosome

Chromosomal Location

120682647-120762316 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 120732147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044177 (fasta)

Gene Model

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

AlphaFold

Q8K561

Predicted Effect

probably null
Transcript: ENSMUST00000047025

SMART Domains

Protein: ENSMUSP00000044177
Gene: ENSMUSG00000034990

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,045,376 (GRCm39)	F319S	probably damaging	Het
Ap3b1	A	G	13: 94,664,827 (GRCm39)	D922G	unknown	Het
Bhlhe41	A	T	6: 145,809,882 (GRCm39)	H107Q	probably damaging	Het
Csmd2	C	A	4: 128,262,801 (GRCm39)	H662Q	probably benign	Het
Dnah8	T	C	17: 30,932,021 (GRCm39)	V1463A	probably benign	Het
Ebf3	A	T	7: 136,911,094 (GRCm39)	V140E	probably benign	Het
Havcr2	T	A	11: 46,370,108 (GRCm39)		probably benign	Het
Hexb	G	A	13: 97,313,401 (GRCm39)	A485V	probably damaging	Het
Igkv5-37	T	A	6: 69,940,473 (GRCm39)	Q57L	probably damaging	Het
Ipo5	T	A	14: 121,154,795 (GRCm39)	S40T	probably benign	Het
Kcnj8	A	G	6: 142,515,837 (GRCm39)	M90T	probably benign	Het
Kif21b	T	A	1: 136,087,495 (GRCm39)	L937Q	probably damaging	Het
Kmt2c	A	C	5: 25,515,155 (GRCm39)	L2896R	probably damaging	Het
Ldlrap1	A	T	4: 134,484,706 (GRCm39)	I96N	probably damaging	Het
Leo1	A	G	9: 75,353,281 (GRCm39)		probably benign	Het
Mbnl2	T	C	14: 120,642,059 (GRCm39)	M341T	probably benign	Het
Nfatc2	G	A	2: 168,348,821 (GRCm39)	R669*	probably null	Het
Nhlrc2	T	A	19: 56,563,280 (GRCm39)	V293E	probably damaging	Het
Or1e17	T	C	11: 73,831,276 (GRCm39)	F68S	possibly damaging	Het
Or2at1	A	G	7: 99,417,179 (GRCm39)	D270G	possibly damaging	Het
Or51ag1	A	T	7: 103,155,295 (GRCm39)	M286K	probably benign	Het
Or51ai2	A	G	7: 103,586,770 (GRCm39)	Q61R	possibly damaging	Het
Pcnt	T	C	10: 76,278,393 (GRCm39)		probably benign	Het
Recql4	G	T	15: 76,592,771 (GRCm39)	Q307K	possibly damaging	Het
Sp140	T	A	1: 85,570,730 (GRCm39)	Y453*	probably null	Het
Sspo	G	A	6: 48,461,639 (GRCm39)	V3600I	possibly damaging	Het
Sybu	T	C	15: 44,536,619 (GRCm39)	E441G	probably benign	Het
Syne3	A	T	12: 104,929,553 (GRCm39)	H222Q	probably damaging	Het
Tef	T	C	15: 81,705,496 (GRCm39)	V173A	probably benign	Het
Tlcd1	A	G	11: 78,071,160 (GRCm39)		probably null	Het
Tmod4	C	A	3: 95,032,953 (GRCm39)	Q30K	probably benign	Het
Tpgs1	T	C	10: 79,511,322 (GRCm39)	Y155H	probably damaging	Het
Trib3	G	A	2: 152,185,070 (GRCm39)	P60S	probably benign	Het
Ttn	T	A	2: 76,560,550 (GRCm39)	T20957S	probably damaging	Het
Vars1	T	C	17: 35,234,460 (GRCm39)		probably benign	Het
Vps13c	T	C	9: 67,852,763 (GRCm39)		probably benign	Het
Zc3h4	T	C	7: 16,168,002 (GRCm39)	S704P	unknown	Het
Zfp644	G	A	5: 106,785,180 (GRCm39)	R456W	probably damaging	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
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
IGL02878:Otoa	APN	7	120,743,076 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16