Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02811:Otoa'

360568

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 #

IGL02811

Quality Score

Status

Chromosome

Chromosomal Location

120682647-120762316 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120717878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 365 (G365V)

Ref Sequence

ENSEMBL: ENSMUSP00000044177 (fasta)

Gene Model

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

AlphaFold

Q8K561

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047025
AA Change: G365V

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044177
Gene: ENSMUSG00000034990
AA Change: G365V

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

unknown
Transcript: ENSMUST00000163275
AA Change: A47S

Predicted Effect

unknown
Transcript: ENSMUST00000165409
AA Change: A48S

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	C	T	13: 4,562,682 (GRCm39)	R90H	possibly damaging	Het
BC048679	A	T	7: 81,144,937 (GRCm39)		probably benign	Het
Chd6	T	C	2: 160,832,221 (GRCm39)	R984G	probably damaging	Het
Cobl	A	G	11: 12,203,285 (GRCm39)	I1139T	possibly damaging	Het
Coq3	A	G	4: 21,900,273 (GRCm39)	R167G	probably damaging	Het
Crim1	A	G	17: 78,658,130 (GRCm39)	K670E	possibly damaging	Het
Crtac1	T	C	19: 42,322,350 (GRCm39)	E130G	probably damaging	Het
Dcbld1	A	G	10: 52,196,069 (GRCm39)	T426A	probably benign	Het
Dimt1	T	C	13: 107,084,175 (GRCm39)		probably benign	Het
Dnal1	G	A	12: 84,178,166 (GRCm39)		probably null	Het
Fes	T	C	7: 80,029,589 (GRCm39)	Y631C	probably damaging	Het
Hemk1	A	T	9: 107,208,750 (GRCm39)	V149E	probably benign	Het
Itga6	T	C	2: 71,657,076 (GRCm39)	V397A	probably damaging	Het
Kmt2c	A	T	5: 25,520,026 (GRCm39)	L2028*	probably null	Het
Krt33b	C	A	11: 99,920,395 (GRCm39)	C86F	probably benign	Het
Lmx1a	A	G	1: 167,618,943 (GRCm39)	I101V	probably benign	Het
Mlh1	A	G	9: 111,100,582 (GRCm39)	V4A	probably benign	Het
Mroh2b	A	G	15: 4,944,718 (GRCm39)	I440V	possibly damaging	Het
Mrpl35	A	G	6: 71,795,804 (GRCm39)	Y28H	probably benign	Het
Oas3	C	A	5: 120,902,387 (GRCm39)	E636D	unknown	Het
Olfm4	T	A	14: 80,259,113 (GRCm39)	S454T	probably damaging	Het
Or4l15	T	A	14: 50,197,590 (GRCm39)		probably benign	Het
Or52ab2	T	C	7: 102,970,140 (GRCm39)	I174T	probably benign	Het
Pdgfrl	G	T	8: 41,430,005 (GRCm39)	R124L	probably damaging	Het
Rcbtb2	T	A	14: 73,411,851 (GRCm39)	V380E	probably damaging	Het
Rufy2	A	G	10: 62,836,106 (GRCm39)	D345G	probably damaging	Het
Shq1	A	T	6: 100,607,945 (GRCm39)	I322N	probably damaging	Het
Skint4	C	A	4: 111,944,200 (GRCm39)	T4K	possibly damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tbc1d5	A	G	17: 51,107,149 (GRCm39)	I469T	probably damaging	Het
Thoc3	T	C	13: 54,607,988 (GRCm39)	R319G	probably benign	Het
Tmem63a	A	G	1: 180,793,348 (GRCm39)	I507M	probably damaging	Het
Usp40	A	T	1: 87,923,458 (GRCm39)	I271N	probably damaging	Het
Vps13d	T	C	4: 144,858,335 (GRCm39)	D2157G	possibly damaging	Het
Vwa8	T	A	14: 79,231,899 (GRCm39)	V586D	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
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

2015-12-18