Mutagenetix > Incidental Mutation

Incidental Mutation 'R6761:Otoa'

531702

Institutional Source

Beutler Lab

Gene Symbol

Otoa

Ensembl Gene

ENSMUSG00000034990

Gene Name

otoancorin

Synonyms

MMRRC Submission

044877-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6761 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120682647-120762316 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120721173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 396 (G396D)

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: G396D

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

SMART Domains

Protein: ENSMUSP00000044177
Gene: ENSMUSG00000034990
AA Change: G396D

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

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.5%

Validation Efficiency

97% (34/35)

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
2300002M23Rik	T	C	17: 35,878,845 (GRCm39)	V61A	probably benign	Het
Actr3b	C	T	5: 26,030,137 (GRCm39)	S67F	probably damaging	Het
Ap3m1	T	C	14: 21,088,096 (GRCm39)	M107V	probably benign	Het
Ccdc27	C	T	4: 154,122,155 (GRCm39)	G241D	unknown	Het
Cit	T	G	5: 116,046,734 (GRCm39)	D382E	probably damaging	Het
Clec3b	G	T	9: 122,986,004 (GRCm39)	G134V	probably damaging	Het
Cntnap2	T	A	6: 47,026,307 (GRCm39)	H44Q	probably benign	Het
Dst	T	C	1: 34,253,631 (GRCm39)	S4300P	probably damaging	Het
Ebna1bp2	C	T	4: 118,480,558 (GRCm39)	R134*	probably null	Het
Efcab14	T	C	4: 115,596,024 (GRCm39)	S57P	probably damaging	Het
Exosc2	T	C	2: 31,560,875 (GRCm39)		probably null	Het
Hfm1	T	C	5: 107,043,145 (GRCm39)	T630A	probably damaging	Het
Hkdc1	A	T	10: 62,244,477 (GRCm39)	I203N	possibly damaging	Het
Hltf	T	A	3: 20,137,996 (GRCm39)		probably null	Het
Igkv3-2	G	T	6: 70,675,501 (GRCm39)		probably benign	Het
Mslnl	A	G	17: 25,965,047 (GRCm39)	D471G	probably damaging	Het
Msmo1	A	G	8: 65,172,061 (GRCm39)	Y281H	probably benign	Het
Nid1	A	G	13: 13,656,620 (GRCm39)	T584A	probably benign	Het
Olfr908	A	G	9: 38,427,561 (GRCm39)	T78A	probably damaging	Het
Or52a24	C	T	7: 103,381,691 (GRCm39)	A186V	probably damaging	Het
Prss45	G	T	9: 110,669,487 (GRCm39)	A197S	probably damaging	Het
Prxl2a	T	A	14: 40,716,578 (GRCm39)	H198L	probably damaging	Het
Rpap2	T	A	5: 107,768,104 (GRCm39)	I314N	probably benign	Het
Sash1	A	G	10: 8,620,286 (GRCm39)	M458T	probably damaging	Het
Slc44a5	A	G	3: 153,945,714 (GRCm39)		probably null	Het
Sorbs2	T	C	8: 46,225,651 (GRCm39)	S254P	probably damaging	Het
Sycp2	T	C	2: 178,016,144 (GRCm39)		probably null	Het
Tedc1	A	G	12: 113,125,334 (GRCm39)	D252G	probably damaging	Het
Uty	T	C	Y: 1,186,790 (GRCm39)	H145R	probably damaging	Homo
Vmn1r9	A	G	6: 57,048,291 (GRCm39)	Y122C	probably benign	Het
Wdfy4	T	A	14: 32,817,908 (GRCm39)	N1491Y	possibly damaging	Het
Wdr37	T	C	13: 8,899,684 (GRCm39)	T140A	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAAGAATACCGTGCTTTGCAATCC -3'
(R):5'- TTACACTGGCCCTCAGACAC -3'

Sequencing Primer
(F):5'- AATCCCTGGGCCCATGTCTAG -3'
(R):5'- CTCCAGGAAAGTTGAAAGTTCC -3'

Posted On

2018-08-29