Incidental Mutation 'R1637:Myoc'
ID |
173221 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myoc
|
Ensembl Gene |
ENSMUSG00000026697 |
Gene Name |
myocilin |
Synonyms |
TIGR, GLC1A |
MMRRC Submission |
039673-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1637 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
162466724-162477262 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 162466936 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 35
(Y35C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028020
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028020]
|
AlphaFold |
O70624 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028020
AA Change: Y35C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028020 Gene: ENSMUSG00000026697 AA Change: Y35C
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 |
|
Meta Mutation Damage Score |
0.2413 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
T |
A |
5: 109,886,858 (GRCm39) |
H50L |
probably benign |
Het |
A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
Agpat5 |
A |
G |
8: 18,931,827 (GRCm39) |
R316G |
probably benign |
Het |
Ankrd39 |
G |
A |
1: 36,578,573 (GRCm39) |
Q151* |
probably null |
Het |
Arl13b |
T |
C |
16: 62,651,147 (GRCm39) |
D30G |
probably damaging |
Het |
Atpaf1 |
A |
G |
4: 115,645,499 (GRCm39) |
S123G |
probably benign |
Het |
Bicra |
A |
G |
7: 15,706,614 (GRCm39) |
S1276P |
probably benign |
Het |
Car1 |
T |
C |
3: 14,842,846 (GRCm39) |
I60V |
possibly damaging |
Het |
Cnbd2 |
A |
G |
2: 156,215,644 (GRCm39) |
I411V |
probably damaging |
Het |
Cyp2c37 |
A |
T |
19: 39,990,426 (GRCm39) |
K375* |
probably null |
Het |
Cysrt1 |
T |
C |
2: 25,129,297 (GRCm39) |
I72V |
probably benign |
Het |
Dock9 |
T |
A |
14: 121,889,187 (GRCm39) |
D312V |
possibly damaging |
Het |
Ecd |
T |
C |
14: 20,396,760 (GRCm39) |
I42V |
probably damaging |
Het |
Ercc5 |
A |
G |
1: 44,206,694 (GRCm39) |
T536A |
probably benign |
Het |
Gjd2 |
A |
T |
2: 113,841,789 (GRCm39) |
Y229* |
probably null |
Het |
Gramd1b |
A |
T |
9: 40,215,834 (GRCm39) |
|
probably null |
Het |
Hcrtr2 |
T |
C |
9: 76,140,281 (GRCm39) |
T336A |
probably benign |
Het |
Hjurp |
G |
A |
1: 88,193,843 (GRCm39) |
S279F |
probably benign |
Het |
Ift140 |
C |
T |
17: 25,244,608 (GRCm39) |
L152F |
probably benign |
Het |
Izumo1r |
A |
G |
9: 14,813,105 (GRCm39) |
C56R |
probably damaging |
Het |
Kif7 |
T |
C |
7: 79,352,585 (GRCm39) |
E850G |
probably damaging |
Het |
Larp4b |
C |
G |
13: 9,201,133 (GRCm39) |
T335S |
probably benign |
Het |
Lmo7 |
A |
T |
14: 102,118,268 (GRCm39) |
R42S |
probably damaging |
Het |
Lrrk2 |
T |
G |
15: 91,618,261 (GRCm39) |
L920R |
probably benign |
Het |
Mapk8 |
G |
A |
14: 33,132,919 (GRCm39) |
R6C |
probably benign |
Het |
Mpped1 |
C |
T |
15: 83,676,191 (GRCm39) |
|
probably benign |
Het |
Ndufb8 |
C |
T |
19: 44,543,474 (GRCm39) |
M66I |
probably benign |
Het |
Nkpd1 |
T |
C |
7: 19,257,904 (GRCm39) |
I411T |
probably benign |
Het |
Nrxn3 |
A |
G |
12: 89,321,238 (GRCm39) |
N382S |
possibly damaging |
Het |
Or2t47 |
A |
T |
11: 58,442,246 (GRCm39) |
V273E |
possibly damaging |
Het |
Or4c114 |
A |
T |
2: 88,905,396 (GRCm39) |
L13Q |
probably damaging |
Het |
Pear1 |
T |
C |
3: 87,664,060 (GRCm39) |
E303G |
probably damaging |
Het |
Plekhg4 |
T |
A |
8: 106,108,413 (GRCm39) |
M1047K |
probably benign |
Het |
Pofut1 |
T |
G |
2: 153,107,709 (GRCm39) |
F268C |
probably damaging |
Het |
Psrc1 |
G |
T |
3: 108,292,609 (GRCm39) |
S134I |
probably damaging |
Het |
Slc6a2 |
A |
T |
8: 93,708,618 (GRCm39) |
I245F |
probably benign |
Het |
Slc9a1 |
T |
C |
4: 133,149,534 (GRCm39) |
S787P |
probably benign |
Het |
Sorcs3 |
T |
A |
19: 48,736,798 (GRCm39) |
|
probably null |
Het |
Syne2 |
C |
A |
12: 76,042,776 (GRCm39) |
H3916N |
probably damaging |
Het |
Taar6 |
A |
G |
10: 23,861,079 (GRCm39) |
S156P |
probably benign |
Het |
Tnn |
A |
G |
1: 159,975,170 (GRCm39) |
F86L |
probably damaging |
Het |
Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
Ttll8 |
A |
G |
15: 88,798,647 (GRCm39) |
V696A |
probably benign |
Het |
Utrn |
C |
A |
10: 12,312,108 (GRCm39) |
D616Y |
probably damaging |
Het |
Vmn2r18 |
A |
T |
5: 151,508,222 (GRCm39) |
C301S |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,207,573 (GRCm39) |
Y928C |
probably benign |
Het |
Zfand1 |
G |
A |
3: 10,411,042 (GRCm39) |
A104V |
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 |
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 |
R5920:Myoc
|
UTSW |
1 |
162,467,128 (GRCm39) |
missense |
probably benign |
|
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'- CTGGCAGTGTGAGTGTAATCCTCC -3'
(R):5'- AGTAACTCGGCCCAAGGTCATCTG -3'
Sequencing Primer
(F):5'- CTGGGTCCCCAGGATATATAAATG -3'
(R):5'- CCAAGGTCATCTGGTGGAG -3'
|
Posted On |
2014-04-24 |