Incidental Mutation 'R2440:Coch'
| ID |
249764 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coch
|
| Ensembl Gene |
ENSMUSG00000020953 |
| Gene Name |
cochlin |
| Synonyms |
Coch-5B2, D12H14S564E |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2440 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
51640156-51652558 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51643345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 122
(S122P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085412]
[ENSMUST00000164782]
|
| AlphaFold |
Q62507 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085412
AA Change: S122P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000082533
Gene: ENSMUSG00000020953
AA Change: S122P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
LCCL
|
32 |
114 |
3.64e-47 |
SMART |
|
VWA
|
165 |
337 |
2.06e-33 |
SMART |
|
VWA
|
367 |
540 |
6.43e-44 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164782
AA Change: S122P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128127
Gene: ENSMUSG00000020953
AA Change: S122P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
LCCL
|
32 |
114 |
3.64e-47 |
SMART |
|
VWA
|
165 |
337 |
2.06e-33 |
SMART |
|
VWA
|
367 |
540 |
6.43e-44 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218382
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220173
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| 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 highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for a point mutation have vestibular and hearing dysfunctions that worsen with age. Homozyogtes for a null allele have no abnormal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
T |
C |
15: 59,888,129 (GRCm39) |
T104A |
probably benign |
Het |
| Adar |
A |
G |
3: 89,642,161 (GRCm39) |
H14R |
possibly damaging |
Het |
| Albfm1 |
A |
G |
5: 90,720,548 (GRCm39) |
|
probably null |
Het |
| Alcam |
T |
A |
16: 52,125,976 (GRCm39) |
M114L |
probably damaging |
Het |
| Ccn4 |
T |
A |
15: 66,784,706 (GRCm39) |
D126E |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,171,960 (GRCm39) |
Y75H |
possibly damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,864,738 (GRCm39) |
K247E |
probably benign |
Het |
| Gm1527 |
A |
G |
3: 28,949,764 (GRCm39) |
D8G |
probably damaging |
Het |
| Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
| Itga8 |
G |
A |
2: 12,183,491 (GRCm39) |
T751I |
possibly damaging |
Het |
| Kif5a |
A |
G |
10: 127,067,205 (GRCm39) |
V904A |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,492,321 (GRCm39) |
E269G |
probably benign |
Het |
| Or12j5 |
T |
A |
7: 140,083,465 (GRCm39) |
K302N |
probably benign |
Het |
| Pde4d |
A |
G |
13: 110,063,731 (GRCm39) |
|
probably benign |
Het |
| Rita1 |
T |
C |
5: 120,748,004 (GRCm39) |
Y98C |
probably damaging |
Het |
| Surf1 |
A |
G |
2: 26,803,919 (GRCm39) |
|
probably null |
Het |
| Sv2c |
A |
G |
13: 96,185,084 (GRCm39) |
Y198H |
probably damaging |
Het |
| Svs3a |
T |
C |
2: 164,131,551 (GRCm39) |
F41L |
possibly damaging |
Het |
| Tigd2 |
A |
G |
6: 59,186,980 (GRCm39) |
|
probably benign |
Het |
| Tubb4a |
C |
A |
17: 57,393,285 (GRCm39) |
G38W |
probably damaging |
Het |
| Tyrp1 |
G |
A |
4: 80,764,843 (GRCm39) |
V7I |
probably benign |
Het |
| Unc45a |
A |
G |
7: 79,978,805 (GRCm39) |
Y615H |
probably damaging |
Het |
|
| Other mutations in Coch |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01514:Coch
|
APN |
12 |
51,650,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01803:Coch
|
APN |
12 |
51,650,082 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02613:Coch
|
APN |
12 |
51,642,132 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02697:Coch
|
APN |
12 |
51,643,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03351:Coch
|
APN |
12 |
51,649,989 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0732:Coch
|
UTSW |
12 |
51,642,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1485:Coch
|
UTSW |
12 |
51,645,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1757:Coch
|
UTSW |
12 |
51,649,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:Coch
|
UTSW |
12 |
51,649,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2231:Coch
|
UTSW |
12 |
51,649,648 (GRCm39) |
missense |
probably benign |
|
|
R3104:Coch
|
UTSW |
12 |
51,650,204 (GRCm39) |
missense |
probably benign |
|
|
R3623:Coch
|
UTSW |
12 |
51,649,609 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3624:Coch
|
UTSW |
12 |
51,649,609 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3932:Coch
|
UTSW |
12 |
51,650,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3933:Coch
|
UTSW |
12 |
51,650,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3945:Coch
|
UTSW |
12 |
51,648,595 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3946:Coch
|
UTSW |
12 |
51,648,595 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4423:Coch
|
UTSW |
12 |
51,644,932 (GRCm39) |
splice site |
probably null |
|
|
R4660:Coch
|
UTSW |
12 |
51,642,268 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4732:Coch
|
UTSW |
12 |
51,651,802 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4733:Coch
|
UTSW |
12 |
51,651,802 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4844:Coch
|
UTSW |
12 |
51,649,477 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4997:Coch
|
UTSW |
12 |
51,649,964 (GRCm39) |
splice site |
probably null |
|
|
R5152:Coch
|
UTSW |
12 |
51,642,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5173:Coch
|
UTSW |
12 |
51,643,290 (GRCm39) |
nonsense |
probably null |
|
|
R6134:Coch
|
UTSW |
12 |
51,649,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6481:Coch
|
UTSW |
12 |
51,644,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6497:Coch
|
UTSW |
12 |
51,649,504 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6714:Coch
|
UTSW |
12 |
51,649,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6896:Coch
|
UTSW |
12 |
51,649,652 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7242:Coch
|
UTSW |
12 |
51,640,344 (GRCm39) |
start gained |
probably benign |
|
|
R7463:Coch
|
UTSW |
12 |
51,640,408 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R7595:Coch
|
UTSW |
12 |
51,645,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7938:Coch
|
UTSW |
12 |
51,643,366 (GRCm39) |
splice site |
probably null |
|
|
R8047:Coch
|
UTSW |
12 |
51,650,496 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8085:Coch
|
UTSW |
12 |
51,650,031 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9052:Coch
|
UTSW |
12 |
51,640,408 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R9175:Coch
|
UTSW |
12 |
51,645,060 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9533:Coch
|
UTSW |
12 |
51,650,132 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9617:Coch
|
UTSW |
12 |
51,645,034 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGACCAATGTAAGCAACAGATGG -3'
(R):5'- TCAGATTTTGGCTTCCACCG -3'
Sequencing Primer
(F):5'- AGCAACAGATGGCTATGTCTATTGG -3'
(R):5'- TGGCTTCCACCGTGTAAAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation