Incidental Mutation 'R5920:Myoc'
| ID |
461504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myoc
|
| Ensembl Gene |
ENSMUSG00000026697 |
| Gene Name |
myocilin |
| Synonyms |
TIGR, GLC1A |
| MMRRC Submission |
044117-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5920 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
162466724-162477262 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 162467128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 99
(A99V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028020]
|
| AlphaFold |
O70624 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028020
AA Change: A99V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028020
Gene: ENSMUSG00000026697
AA Change: A99V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
coiled coil region
|
96 |
169 |
N/A |
INTRINSIC |
|
OLF
|
232 |
489 |
2.54e-161 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 92.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile and display no ocular abnormalities at the light and ultrastructural microscopic levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
C |
8: 25,164,091 (GRCm39) |
K31E |
probably damaging |
Het |
| Ak9 |
T |
A |
10: 41,296,672 (GRCm39) |
C1473S |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,088,631 (GRCm39) |
L139S |
probably damaging |
Het |
| Arhgap45 |
T |
A |
10: 79,864,965 (GRCm39) |
V849D |
possibly damaging |
Het |
| Atp13a1 |
G |
A |
8: 70,252,746 (GRCm39) |
E689K |
probably benign |
Het |
| Calcr |
G |
A |
6: 3,722,994 (GRCm39) |
R11W |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,641,853 (GRCm39) |
L710Q |
probably null |
Het |
| Cenpc1 |
T |
A |
5: 86,168,769 (GRCm39) |
T743S |
probably benign |
Het |
| Cfap43 |
A |
G |
19: 47,749,335 (GRCm39) |
V1185A |
possibly damaging |
Het |
| Chd2 |
A |
G |
7: 73,187,060 (GRCm39) |
L33P |
probably damaging |
Het |
| Col24a1 |
G |
T |
3: 145,133,985 (GRCm39) |
G889C |
probably damaging |
Het |
| Cracdl |
T |
A |
1: 37,677,062 (GRCm39) |
K40M |
probably damaging |
Het |
| Dbh |
T |
C |
2: 27,067,243 (GRCm39) |
|
probably benign |
Het |
| Dcdc2c |
T |
C |
12: 28,585,536 (GRCm39) |
I154V |
possibly damaging |
Het |
| Eif2b5 |
G |
T |
16: 20,317,694 (GRCm39) |
A11S |
unknown |
Het |
| Frmd4a |
T |
G |
2: 4,337,927 (GRCm39) |
N44K |
probably benign |
Het |
| Fsip2 |
C |
T |
2: 82,818,852 (GRCm39) |
Q4862* |
probably null |
Het |
| Hectd4 |
C |
T |
5: 121,446,334 (GRCm39) |
T1513I |
possibly damaging |
Het |
| Hspg2 |
A |
T |
4: 137,281,093 (GRCm39) |
D3355V |
probably damaging |
Het |
| Ift56 |
A |
G |
6: 38,389,005 (GRCm39) |
Y430C |
probably damaging |
Het |
| Il16 |
G |
A |
7: 83,301,552 (GRCm39) |
T190I |
probably benign |
Het |
| Immt |
T |
A |
6: 71,840,180 (GRCm39) |
V319D |
probably benign |
Het |
| Kdm2b |
G |
C |
5: 123,018,359 (GRCm39) |
S989W |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,704,440 (GRCm39) |
E1211G |
possibly damaging |
Het |
| Ktn1 |
G |
T |
14: 47,961,481 (GRCm39) |
G1061* |
probably null |
Het |
| Mast3 |
T |
C |
8: 71,240,577 (GRCm39) |
I287V |
probably benign |
Het |
| Mrgpre |
T |
A |
7: 143,335,465 (GRCm39) |
T13S |
probably benign |
Het |
| Or10a49 |
C |
A |
7: 108,467,895 (GRCm39) |
M155I |
probably benign |
Het |
| Otulinl |
T |
A |
15: 27,664,442 (GRCm39) |
R109S |
possibly damaging |
Het |
| Per3 |
G |
A |
4: 151,096,907 (GRCm39) |
P873S |
probably benign |
Het |
| Phykpl |
A |
C |
11: 51,493,622 (GRCm39) |
E453A |
probably benign |
Het |
| Pkd2l2 |
A |
T |
18: 34,563,826 (GRCm39) |
I514L |
probably benign |
Het |
| Plcl2 |
G |
T |
17: 50,915,703 (GRCm39) |
R904L |
probably damaging |
Het |
| Ptpn1 |
A |
G |
2: 167,813,668 (GRCm39) |
D137G |
probably benign |
Het |
| Rasal3 |
G |
A |
17: 32,614,143 (GRCm39) |
P571S |
probably damaging |
Het |
| Sdha |
A |
G |
13: 74,475,044 (GRCm39) |
|
probably null |
Het |
| Tbc1d31 |
C |
A |
15: 57,805,954 (GRCm39) |
Q439K |
probably benign |
Het |
| Ttc12 |
T |
C |
9: 49,364,633 (GRCm39) |
D381G |
possibly damaging |
Het |
| Uaca |
T |
A |
9: 60,776,885 (GRCm39) |
M424K |
probably benign |
Het |
| Usp33 |
G |
T |
3: 152,080,320 (GRCm39) |
A484S |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,316,730 (GRCm39) |
S1940P |
probably damaging |
Het |
| Zfp532 |
G |
A |
18: 65,777,421 (GRCm39) |
V893I |
probably benign |
Het |
|
| Other mutations in Myoc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02085:Myoc
|
APN |
1 |
162,467,343 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02314:Myoc
|
APN |
1 |
162,466,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02707:Myoc
|
APN |
1 |
162,467,029 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0033:Myoc
|
UTSW |
1 |
162,476,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Myoc
|
UTSW |
1 |
162,476,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0573:Myoc
|
UTSW |
1 |
162,476,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1433:Myoc
|
UTSW |
1 |
162,476,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1525:Myoc
|
UTSW |
1 |
162,476,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1637:Myoc
|
UTSW |
1 |
162,466,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2268:Myoc
|
UTSW |
1 |
162,476,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2883:Myoc
|
UTSW |
1 |
162,467,185 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4437:Myoc
|
UTSW |
1 |
162,476,681 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4845:Myoc
|
UTSW |
1 |
162,475,034 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4904:Myoc
|
UTSW |
1 |
162,466,994 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5092:Myoc
|
UTSW |
1 |
162,467,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5629:Myoc
|
UTSW |
1 |
162,476,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5847:Myoc
|
UTSW |
1 |
162,466,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Myoc
|
UTSW |
1 |
162,476,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6589:Myoc
|
UTSW |
1 |
162,476,188 (GRCm39) |
nonsense |
probably null |
|
|
R6932:Myoc
|
UTSW |
1 |
162,466,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7282:Myoc
|
UTSW |
1 |
162,476,413 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7697:Myoc
|
UTSW |
1 |
162,475,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7698:Myoc
|
UTSW |
1 |
162,467,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7724:Myoc
|
UTSW |
1 |
162,467,396 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7791:Myoc
|
UTSW |
1 |
162,476,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8272:Myoc
|
UTSW |
1 |
162,466,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8290:Myoc
|
UTSW |
1 |
162,476,601 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8872:Myoc
|
UTSW |
1 |
162,475,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8920:Myoc
|
UTSW |
1 |
162,475,127 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9657:Myoc
|
UTSW |
1 |
162,467,229 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Myoc
|
UTSW |
1 |
162,476,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Myoc
|
UTSW |
1 |
162,467,205 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGAATCTAGCTGCCCAAGG -3'
(R):5'- TACTGGGTGGAAGGACACTG -3'
Sequencing Primer
(F):5'- TAGCTGCCCAAGGGAGGAC -3'
(R):5'- AAGGACACTGGCCCCTC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation