Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02591:Otoa'

299731

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 #

IGL02591

Quality Score

Status

Chromosome

Chromosomal Location

120682647-120762316 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120755053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 992 (F992L)

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: F992L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000044177
Gene: ENSMUSG00000034990
AA Change: F992L

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	T	2: 19,485,249 (GRCm39)	F448I	probably benign	Het
Afg3l1	T	C	8: 124,212,748 (GRCm39)	F170L	probably damaging	Het
Aox1	A	T	1: 58,398,158 (GRCm39)	R1300*	probably null	Het
Cadps	G	A	14: 12,473,465 (GRCm38)	R899C	probably damaging	Het
Ckap4	T	C	10: 84,364,454 (GRCm39)	D203G	probably damaging	Het
Dsg1c	A	G	18: 20,408,249 (GRCm39)	N433D	probably damaging	Het
Eapp	T	C	12: 54,739,607 (GRCm39)	N70S	probably damaging	Het
Eno3	A	T	11: 70,552,853 (GRCm39)	D378V	probably damaging	Het
Ep400	T	A	5: 110,881,638 (GRCm39)		probably benign	Het
F13a1	T	A	13: 37,082,031 (GRCm39)	I558F	probably damaging	Het
Fermt1	A	T	2: 132,776,786 (GRCm39)	M234K	possibly damaging	Het
Fgfr1op2	A	G	6: 146,490,344 (GRCm39)	Q81R	probably damaging	Het
Gpm6a	C	T	8: 55,511,954 (GRCm39)	A276V	probably damaging	Het
Hecw1	C	A	13: 14,531,821 (GRCm39)		probably benign	Het
Ikbip	G	T	10: 90,932,154 (GRCm39)	C266F	probably damaging	Het
Lpar2	C	T	8: 70,276,700 (GRCm39)	A163V	probably benign	Het
Med17	T	A	9: 15,181,657 (GRCm39)	H31L	probably damaging	Het
Or5g25	C	A	2: 85,478,487 (GRCm39)	M59I	probably damaging	Het
Ptprd	T	C	4: 75,900,287 (GRCm39)	H864R	probably damaging	Het
Samd9l	A	C	6: 3,375,760 (GRCm39)	C500W	possibly damaging	Het
Sarm1	A	T	11: 78,378,178 (GRCm39)	Y501N	probably damaging	Het
Selp	A	T	1: 163,957,702 (GRCm39)	H277L	probably damaging	Het
Slc39a8	T	G	3: 135,590,381 (GRCm39)	L358R	probably damaging	Het
Spi1	T	A	2: 90,927,295 (GRCm39)	M1K	probably null	Het
Thsd1	A	G	8: 22,748,743 (GRCm39)	E477G	probably damaging	Het
Tlr1	C	T	5: 65,084,059 (GRCm39)	V173M	probably damaging	Het
Tmco2	C	T	4: 120,962,987 (GRCm39)	D171N	probably damaging	Het
Ugt2b1	A	G	5: 87,065,563 (GRCm39)	L492P	probably damaging	Het
Vmn2r70	A	T	7: 85,214,153 (GRCm39)	I333K	probably damaging	Het
Zfp598	C	A	17: 24,896,478 (GRCm39)	P185Q	probably damaging	Het
Zfp711	T	A	X: 111,542,391 (GRCm39)	M474K	probably benign	Het
Zscan18	T	C	7: 12,509,206 (GRCm39)		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
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