Incidental Mutation 'R5595:Otoa'
| ID |
437774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otoa
|
| Ensembl Gene |
ENSMUSG00000034990 |
| Gene Name |
otoancorin |
| Synonyms |
|
| MMRRC Submission |
043147-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5595 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
120682647-120762316 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120721200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 405
(L405H)
|
| 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: L405H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044177
Gene: ENSMUSG00000034990
AA Change: L405H
| 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: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,682,143 (GRCm39) |
F991S |
probably benign |
Het |
| 4931406B18Rik |
A |
G |
7: 43,147,296 (GRCm39) |
I218T |
possibly damaging |
Het |
| 9930111J21Rik2 |
C |
T |
11: 48,910,538 (GRCm39) |
A632T |
possibly damaging |
Het |
| Akt1 |
A |
T |
12: 112,625,050 (GRCm39) |
L166Q |
probably null |
Het |
| Alpk2 |
A |
T |
18: 65,399,319 (GRCm39) |
D2086E |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,621,043 (GRCm39) |
C915* |
probably null |
Het |
| Ankrd44 |
T |
C |
1: 54,801,506 (GRCm39) |
T274A |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,774,209 (GRCm39) |
I398K |
probably damaging |
Het |
| Arhgef2 |
A |
G |
3: 88,550,283 (GRCm39) |
T663A |
probably benign |
Het |
| Btbd16 |
G |
A |
7: 130,425,033 (GRCm39) |
M471I |
possibly damaging |
Het |
| Btbd16 |
C |
A |
7: 130,425,034 (GRCm39) |
Q472K |
probably damaging |
Het |
| Cdc37 |
G |
A |
9: 21,054,509 (GRCm39) |
R39C |
probably damaging |
Het |
| Cnnm1 |
A |
G |
19: 43,453,596 (GRCm39) |
N537S |
possibly damaging |
Het |
| Cop1 |
T |
A |
1: 159,077,643 (GRCm39) |
D159E |
probably benign |
Het |
| Crtac1 |
C |
T |
19: 42,402,390 (GRCm39) |
V73I |
probably benign |
Het |
| Cryz |
T |
A |
3: 154,312,155 (GRCm39) |
V84E |
probably damaging |
Het |
| Ctnnd2 |
C |
T |
15: 30,669,689 (GRCm39) |
L433F |
probably benign |
Het |
| Ctsq |
C |
A |
13: 61,184,874 (GRCm39) |
D271Y |
probably benign |
Het |
| Cyp3a25 |
A |
C |
5: 145,931,673 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
G |
C |
7: 130,655,797 (GRCm39) |
W412C |
probably benign |
Het |
| Eif4e1b |
G |
A |
13: 54,934,529 (GRCm39) |
V131I |
possibly damaging |
Het |
| Epha1 |
A |
G |
6: 42,341,568 (GRCm39) |
V494A |
possibly damaging |
Het |
| Fbxl4 |
T |
C |
4: 22,433,641 (GRCm39) |
S593P |
probably damaging |
Het |
| Fbxo41 |
G |
A |
6: 85,456,883 (GRCm39) |
P429S |
probably benign |
Het |
| Fem1al |
T |
C |
11: 29,774,288 (GRCm39) |
N390D |
probably benign |
Het |
| Fgfr3 |
G |
A |
5: 33,887,347 (GRCm39) |
C204Y |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,272,861 (GRCm39) |
V1665A |
possibly damaging |
Het |
| Htt |
T |
A |
5: 35,062,741 (GRCm39) |
V2825E |
probably damaging |
Het |
| Irs1 |
A |
T |
1: 82,267,646 (GRCm39) |
V190E |
probably damaging |
Het |
| Kics2 |
T |
C |
10: 121,576,052 (GRCm39) |
|
probably benign |
Het |
| Klk1 |
T |
C |
7: 43,878,161 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
T |
C |
15: 98,747,905 (GRCm39) |
|
probably benign |
Het |
| Meox1 |
T |
C |
11: 101,770,169 (GRCm39) |
E186G |
probably damaging |
Het |
| Micu2 |
G |
A |
14: 58,209,201 (GRCm39) |
R86W |
probably damaging |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,432 (GRCm39) |
I160K |
probably damaging |
Het |
| Nckap1l |
T |
A |
15: 103,384,085 (GRCm39) |
M561K |
possibly damaging |
Het |
| Or4c104 |
A |
T |
2: 88,586,749 (GRCm39) |
I90N |
probably damaging |
Het |
| Or52s6 |
A |
T |
7: 103,091,635 (GRCm39) |
S232T |
probably damaging |
Het |
| Or56b35 |
A |
T |
7: 104,963,213 (GRCm39) |
M1L |
probably benign |
Het |
| Phyhip |
A |
T |
14: 70,704,314 (GRCm39) |
M178L |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,382,152 (GRCm39) |
N1630I |
probably damaging |
Het |
| Plek2 |
T |
A |
12: 78,940,883 (GRCm39) |
T247S |
probably benign |
Het |
| Rhbdl3 |
T |
C |
11: 80,228,409 (GRCm39) |
V293A |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 16,992,810 (GRCm39) |
F193Y |
probably damaging |
Het |
| Scn3a |
C |
T |
2: 65,291,057 (GRCm39) |
M1896I |
probably benign |
Het |
| Snrnp200 |
T |
C |
2: 127,067,933 (GRCm39) |
V810A |
probably damaging |
Het |
| Taar4 |
G |
A |
10: 23,836,639 (GRCm39) |
S83N |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Tec |
T |
A |
5: 72,926,087 (GRCm39) |
I322F |
possibly damaging |
Het |
| Teddm2 |
T |
C |
1: 153,726,146 (GRCm39) |
I190V |
probably benign |
Het |
| Tmem117 |
A |
G |
15: 94,992,765 (GRCm39) |
E475G |
probably damaging |
Het |
| Trip10 |
T |
A |
17: 57,569,460 (GRCm39) |
Y495N |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,638,695 (GRCm39) |
V4035A |
possibly damaging |
Het |
| Utrn |
C |
T |
10: 12,558,062 (GRCm39) |
V1466M |
possibly damaging |
Het |
| Vasp |
A |
G |
7: 18,991,816 (GRCm39) |
|
probably benign |
Het |
| Vmn1r89 |
A |
T |
7: 12,953,857 (GRCm39) |
M130L |
possibly damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,034,036 (GRCm39) |
D495E |
possibly damaging |
Het |
| Zfp213 |
A |
G |
17: 23,780,160 (GRCm39) |
V120A |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGTCCTTATACCCAGGAG -3'
(R):5'- TGTGGTCCACAGCCAAAAC -3'
Sequencing Primer
(F):5'- CCCAGGAGGTGGTTGGAG -3'
(R):5'- CCACACTAAACTGTGAGGGG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation