Incidental Mutation 'R8920:Myoc'
| ID |
679175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myoc
|
| Ensembl Gene |
ENSMUSG00000026697 |
| Gene Name |
myocilin |
| Synonyms |
TIGR, GLC1A |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8920 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
162466724-162477262 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 162475127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 226
(E226G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028020]
[ENSMUST00000169439]
[ENSMUST00000193898]
|
| AlphaFold |
O70624 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028020
AA Change: E226G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000028020
Gene: ENSMUSG00000026697
AA Change: E226G
| 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 |
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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 |
|---|
| Anxa10 |
T |
A |
8: 62,527,580 (GRCm39) |
Q160L |
probably benign |
Het |
| Apc2 |
A |
T |
10: 80,149,934 (GRCm39) |
I1663L |
probably benign |
Het |
| Bahcc1 |
C |
G |
11: 120,175,331 (GRCm39) |
R1802G |
probably damaging |
Het |
| C1qtnf1 |
T |
C |
11: 118,339,068 (GRCm39) |
V246A |
possibly damaging |
Het |
| Cbl |
A |
G |
9: 44,078,570 (GRCm39) |
M267T |
probably damaging |
Het |
| Cd300lf |
T |
C |
11: 115,017,180 (GRCm39) |
K48E |
probably benign |
Het |
| Cfap46 |
G |
T |
7: 139,232,442 (GRCm39) |
N840K |
|
Het |
| Cfap54 |
T |
A |
10: 92,776,199 (GRCm39) |
|
probably null |
Het |
| Cnrip1 |
A |
C |
11: 17,005,003 (GRCm39) |
K184N |
unknown |
Het |
| Dnah11 |
A |
T |
12: 118,077,674 (GRCm39) |
L1273Q |
probably damaging |
Het |
| Dyrk1a |
T |
G |
16: 94,460,488 (GRCm39) |
I48R |
probably benign |
Het |
| Exoc7 |
T |
C |
11: 116,180,055 (GRCm39) |
E683G |
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,799,171 (GRCm39) |
Y54C |
probably benign |
Het |
| Igtp |
A |
T |
11: 58,096,999 (GRCm39) |
I57F |
probably damaging |
Het |
| Inhbb |
T |
C |
1: 119,345,107 (GRCm39) |
N394S |
probably damaging |
Het |
| Jag1 |
T |
C |
2: 136,931,143 (GRCm39) |
H663R |
probably benign |
Het |
| Kcna6 |
A |
G |
6: 126,716,610 (GRCm39) |
F93S |
probably damaging |
Het |
| L1td1 |
C |
A |
4: 98,624,864 (GRCm39) |
S353* |
probably null |
Het |
| Lgals12 |
T |
C |
19: 7,576,166 (GRCm39) |
I253V |
possibly damaging |
Het |
| Lgals4 |
C |
T |
7: 28,540,289 (GRCm39) |
R195C |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 42,213,610 (GRCm39) |
D67E |
|
Het |
| Lrrc43 |
T |
C |
5: 123,639,194 (GRCm39) |
S408P |
probably benign |
Het |
| Madd |
T |
C |
2: 91,007,168 (GRCm39) |
I315V |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,719,280 (GRCm39) |
F2281S |
probably damaging |
Het |
| Med13l |
A |
T |
5: 118,885,543 (GRCm39) |
K1499* |
probably null |
Het |
| Nmur1 |
T |
C |
1: 86,315,577 (GRCm39) |
Y96C |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,948,863 (GRCm39) |
D145V |
probably damaging |
Het |
| Or7g18 |
C |
A |
9: 18,787,394 (GRCm39) |
T254K |
probably damaging |
Het |
| Paqr8 |
A |
T |
1: 21,005,245 (GRCm39) |
Q133L |
probably damaging |
Het |
| Plbd2 |
T |
C |
5: 120,630,915 (GRCm39) |
D230G |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,744,218 (GRCm39) |
I694T |
probably benign |
Het |
| Rnf139 |
C |
T |
15: 58,771,529 (GRCm39) |
T518I |
possibly damaging |
Het |
| Ryr1 |
G |
T |
7: 28,789,640 (GRCm39) |
S1498R |
possibly damaging |
Het |
| Senp6 |
T |
A |
9: 79,999,561 (GRCm39) |
S72T |
probably benign |
Het |
| Slc12a7 |
C |
T |
13: 73,946,568 (GRCm39) |
P554S |
probably damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,687,990 (GRCm39) |
R39S |
probably benign |
Het |
| Snrpe |
T |
G |
1: 133,534,199 (GRCm39) |
H88P |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,533,088 (GRCm39) |
V3115E |
probably damaging |
Het |
| Stk39 |
C |
T |
2: 68,302,191 (GRCm39) |
V11I |
unknown |
Het |
| Tapbpl |
T |
C |
6: 125,205,214 (GRCm39) |
Y244C |
probably damaging |
Het |
| Tpx2 |
A |
G |
2: 152,726,214 (GRCm39) |
E393G |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,741,620 (GRCm39) |
N111Y |
probably damaging |
Het |
| Vstm4 |
C |
T |
14: 32,585,615 (GRCm39) |
R61C |
probably damaging |
Het |
| Washc2 |
T |
A |
6: 116,221,615 (GRCm39) |
F698I |
possibly damaging |
Het |
| Zfp467 |
G |
A |
6: 48,415,414 (GRCm39) |
P413S |
probably benign |
Het |
| Zfp532 |
G |
T |
18: 65,820,390 (GRCm39) |
A992S |
probably benign |
Het |
| Zfp622 |
G |
A |
15: 25,996,321 (GRCm39) |
W430* |
probably null |
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 |
|
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 |
|
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'- ACAGAGTCCGTTCTTGTGC -3'
(R):5'- CAAGGTATACATGCACACGC -3'
Sequencing Primer
(F):5'- GTGCCCTTTCTACTACAAGTGC -3'
(R):5'- TGCACACGCACATGCAC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation