Incidental Mutation 'R6589:Myoc'
ID |
524492 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myoc
|
Ensembl Gene |
ENSMUSG00000026697 |
Gene Name |
myocilin |
Synonyms |
TIGR, GLC1A |
MMRRC Submission |
044713-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6589 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
162466724-162477262 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 162476188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 297
(Y297*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028020
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028020]
[ENSMUST00000169439]
[ENSMUST00000193898]
|
AlphaFold |
O70624 |
Predicted Effect |
probably null
Transcript: ENSMUST00000028020
AA Change: Y297*
|
SMART Domains |
Protein: ENSMUSP00000028020 Gene: ENSMUSG00000026697 AA Change: Y297*
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169439
|
SMART Domains |
Protein: ENSMUSP00000127102 Gene: ENSMUSG00000091060
Domain | Start | End | E-Value | Type |
low complexity region
|
101 |
113 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193257
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193898
|
SMART Domains |
Protein: ENSMUSP00000141822 Gene: ENSMUSG00000091060
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
32 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (26/26) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd55 |
G |
A |
13: 112,485,397 (GRCm39) |
|
probably null |
Het |
Asic2 |
G |
T |
11: 80,777,430 (GRCm39) |
A427D |
possibly damaging |
Het |
B3gnt2 |
T |
A |
11: 22,787,117 (GRCm39) |
I24F |
probably damaging |
Het |
BC030500 |
T |
C |
8: 59,365,956 (GRCm39) |
|
probably benign |
Het |
Cdh4 |
G |
A |
2: 179,523,789 (GRCm39) |
|
probably null |
Het |
Cramp1 |
T |
C |
17: 25,196,466 (GRCm39) |
|
probably null |
Het |
Fam72a |
A |
T |
1: 131,461,554 (GRCm39) |
I80F |
probably damaging |
Het |
Fbxo43 |
T |
C |
15: 36,162,686 (GRCm39) |
T174A |
probably damaging |
Het |
Fgf11 |
C |
A |
11: 69,690,261 (GRCm39) |
V109L |
probably damaging |
Het |
Fggy |
A |
G |
4: 95,485,875 (GRCm39) |
I74V |
probably benign |
Het |
Fshr |
T |
C |
17: 89,296,035 (GRCm39) |
D224G |
probably damaging |
Het |
Gm6465 |
A |
G |
5: 11,898,128 (GRCm39) |
T81A |
possibly damaging |
Het |
Hdac9 |
T |
C |
12: 34,265,028 (GRCm39) |
E908G |
probably damaging |
Het |
Hspa4l |
T |
G |
3: 40,711,487 (GRCm39) |
L121V |
probably damaging |
Het |
Klk1b16 |
A |
G |
7: 43,790,894 (GRCm39) |
D232G |
probably benign |
Het |
Lpl |
G |
T |
8: 69,349,459 (GRCm39) |
M328I |
probably benign |
Het |
Mgat4a |
T |
C |
1: 37,483,976 (GRCm39) |
E498G |
probably damaging |
Het |
Mup11 |
T |
A |
4: 60,615,540 (GRCm39) |
Q91L |
possibly damaging |
Het |
Or14j5 |
T |
A |
17: 38,161,727 (GRCm39) |
Y81* |
probably null |
Het |
Semp2l1 |
A |
T |
1: 32,585,792 (GRCm39) |
D39E |
probably benign |
Het |
Siva1 |
A |
G |
12: 112,613,272 (GRCm39) |
E40G |
probably damaging |
Het |
Smarca2 |
T |
A |
19: 26,597,284 (GRCm39) |
H55Q |
possibly damaging |
Het |
Taf1b |
A |
G |
12: 24,606,527 (GRCm39) |
E449G |
possibly damaging |
Het |
Tafa2 |
T |
A |
10: 123,540,297 (GRCm39) |
V51E |
probably damaging |
Het |
Tcaf3 |
A |
T |
6: 42,570,995 (GRCm39) |
N252K |
possibly damaging |
Het |
Trim3 |
A |
G |
7: 105,267,167 (GRCm39) |
L404P |
probably damaging |
Het |
Vmn2r114 |
T |
C |
17: 23,510,642 (GRCm39) |
T613A |
probably damaging |
Het |
Vmn2r-ps158 |
T |
A |
7: 42,673,022 (GRCm39) |
S142T |
possibly damaging |
Het |
Zfp358 |
T |
A |
8: 3,545,907 (GRCm39) |
F163Y |
probably damaging |
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 |
R5920:Myoc
|
UTSW |
1 |
162,467,128 (GRCm39) |
missense |
probably benign |
|
R6326:Myoc
|
UTSW |
1 |
162,476,580 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TTCATCAGGATGTGGAGCG -3'
(R):5'- AATGTCTGTGTAGCCACCC -3'
Sequencing Primer
(F):5'- CATCAGGATGTGGAGCGCTAGTC -3'
(R):5'- ACGCGTACGGGAAGTGTC -3'
|
Posted On |
2018-06-22 |