Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01791:Otoa'

155219

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 #

IGL01791

Quality Score

Status

Chromosome

Chromosomal Location

120682647-120762316 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 120755072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 998 (V998G)

Ref Sequence

ENSEMBL: ENSMUSP00000044177 (fasta)

Gene Model

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

AlphaFold

Q8K561

Predicted Effect

probably benign
Transcript: ENSMUST00000047025
AA Change: V998G

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000044177
Gene: ENSMUSG00000034990
AA Change: V998G

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
Arhgap32	A	G	9: 32,158,486 (GRCm39)	I174V	probably damaging	Het
Asb15	T	A	6: 24,567,211 (GRCm39)	C511S	probably damaging	Het
Atr	C	T	9: 95,803,834 (GRCm39)	A1896V	probably benign	Het
B3gnt4	C	T	5: 123,649,162 (GRCm39)	R176C	probably damaging	Het
Brf1	T	C	12: 112,926,095 (GRCm39)	D557G	probably benign	Het
Catsperg2	T	A	7: 29,404,090 (GRCm39)		probably null	Het
Cdip1	A	G	16: 4,586,729 (GRCm39)	I122T	probably damaging	Het
Ctrl	C	T	8: 106,659,199 (GRCm39)	E147K	probably benign	Het
Dennd2c	T	C	3: 103,073,741 (GRCm39)	V829A	probably benign	Het
Dync1h1	T	A	12: 110,625,364 (GRCm39)	L3874Q	probably damaging	Het
Dynlt4	T	A	4: 116,985,794 (GRCm39)	S206T	probably damaging	Het
Gm10521	T	C	1: 171,723,964 (GRCm39)	S92P	unknown	Het
Gm57858	T	C	3: 36,089,416 (GRCm39)		probably benign	Het
Gzf1	G	A	2: 148,525,981 (GRCm39)	A151T	probably benign	Het
Hddc2	A	G	10: 31,202,022 (GRCm39)	Y123C	probably damaging	Het
Hyal4	T	C	6: 24,763,894 (GRCm39)		probably benign	Het
Ighv16-1	T	C	12: 114,032,589 (GRCm39)	N71S	probably benign	Het
Ing2	A	T	8: 48,122,070 (GRCm39)	S159R	probably benign	Het
Itga1	A	T	13: 115,124,197 (GRCm39)	N698K	probably benign	Het
Lemd2	A	T	17: 27,409,702 (GRCm39)	I483N	probably damaging	Het
Lyst	T	C	13: 13,809,887 (GRCm39)	L519P	probably damaging	Het
Mapk10	T	C	5: 103,144,514 (GRCm39)	N101S	probably damaging	Het
Nfatc4	A	T	14: 56,069,695 (GRCm39)	E164V	probably null	Het
Nfkb2	T	G	19: 46,298,278 (GRCm39)		probably benign	Het
Nox3	A	G	17: 3,733,218 (GRCm39)	V231A	possibly damaging	Het
Nup160	G	A	2: 90,534,197 (GRCm39)	G674D	probably damaging	Het
Or1l4b	A	T	2: 37,036,548 (GRCm39)	D108V	probably damaging	Het
Or56b1	C	T	7: 104,285,682 (GRCm39)	T267I	possibly damaging	Het
Pcnx3	A	T	19: 5,723,295 (GRCm39)	M1300K	probably benign	Het
Pde4b	A	G	4: 102,448,127 (GRCm39)		probably benign	Het
Rfc1	T	A	5: 65,420,488 (GRCm39)	K1104I	probably benign	Het
Serpina1f	G	T	12: 103,659,761 (GRCm39)	Q174K	probably damaging	Het
Serping1	T	C	2: 84,603,721 (GRCm39)	N107D	possibly damaging	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Surf6	A	G	2: 26,789,759 (GRCm39)	S94P	probably benign	Het
Tigd4	T	A	3: 84,502,052 (GRCm39)	I323N	probably damaging	Het
Vmn2r28	T	C	7: 5,491,161 (GRCm39)	D362G	probably benign	Het
Wdfy3	A	G	5: 102,085,278 (GRCm39)	S739P	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
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
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

2014-02-04