Incidental Mutation 'R8872:Myoc'
ID 676332
Institutional Source Beutler Lab
Gene Symbol Myoc
Ensembl Gene ENSMUSG00000026697
Gene Name myocilin
Synonyms TIGR, GLC1A
MMRRC Submission 068743-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8872 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 162466724-162477262 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 162475013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 188 (V188A)
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: V188A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000028020
Gene: ENSMUSG00000026697
AA Change: V188A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 101 113 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193898
SMART Domains Protein: ENSMUSP00000141822
Gene: ENSMUSG00000091060

DomainStartEndE-ValueType
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 99% (74/75)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik A G 17: 48,401,164 (GRCm39) S150G possibly damaging Het
Alpk2 A T 18: 65,413,977 (GRCm39) S1579R probably damaging Het
Ank2 C T 3: 126,791,525 (GRCm39) E814K possibly damaging Het
Cep57 A G 9: 13,737,980 (GRCm39) probably benign Het
Cntnap4 A T 8: 113,585,759 (GRCm39) R1127S possibly damaging Het
Comt C A 16: 18,245,239 (GRCm39) probably benign Het
Crlf3 T C 11: 79,938,440 (GRCm39) N399S Het
Crls1 T A 2: 132,691,819 (GRCm39) S115T probably benign Het
Dixdc1 A G 9: 50,614,453 (GRCm39) S199P possibly damaging Het
Dsc3 T C 18: 20,122,679 (GRCm39) T82A probably benign Het
Efcab3 T G 11: 104,760,880 (GRCm39) L2411R probably benign Het
Exosc6 T A 8: 111,783,784 (GRCm39) V261E probably damaging Het
Fbxw17 C T 13: 50,586,300 (GRCm39) S361L probably benign Het
Gfap T A 11: 102,786,620 (GRCm39) N157Y possibly damaging Het
Gigyf2 A T 1: 87,307,725 (GRCm39) D177V unknown Het
Gls2 A T 10: 128,040,535 (GRCm39) Q312L probably benign Het
Gpr155 C T 2: 73,197,936 (GRCm39) V395I probably benign Het
Greb1l A T 18: 10,529,684 (GRCm39) M889L probably benign Het
Gucy1a1 T A 3: 82,016,049 (GRCm39) D313V probably damaging Het
H2-T5 T A 17: 36,476,293 (GRCm39) I324F probably benign Het
Herpud1 C T 8: 95,113,213 (GRCm39) probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Il27 A C 7: 126,190,194 (GRCm39) L140R probably damaging Het
Jarid2 T C 13: 45,055,984 (GRCm39) S397P possibly damaging Het
Kdm5a A C 6: 120,365,101 (GRCm39) D334A probably damaging Het
Lman2 T C 13: 55,496,197 (GRCm39) T283A probably benign Het
Lrfn2 C T 17: 49,378,277 (GRCm39) Q453* probably null Het
Lrrfip2 A G 9: 111,034,824 (GRCm39) E171G possibly damaging Het
Mboat1 T A 13: 30,410,397 (GRCm39) Y285N probably damaging Het
Med15 C A 16: 17,470,605 (GRCm39) S734I probably damaging Het
Mgat4c T A 10: 102,224,146 (GRCm39) I120N probably damaging Het
Ms4a4d T C 19: 11,530,251 (GRCm39) M104T possibly damaging Het
Mtf2 A T 5: 108,247,051 (GRCm39) M330L probably benign Het
Nos2 T A 11: 78,839,949 (GRCm39) I686N probably damaging Het
Npffr1 T C 10: 61,461,794 (GRCm39) V310A probably benign Het
Nrap T C 19: 56,308,627 (GRCm39) *1729W probably null Het
Odam A G 5: 88,035,797 (GRCm39) probably null Het
Olfm4 G T 14: 80,258,943 (GRCm39) R397L probably damaging Het
Or1p1c T G 11: 74,160,120 (GRCm39) probably benign Het
Polr1b T C 2: 128,957,613 (GRCm39) V556A probably damaging Het
Prl3d3 A G 13: 27,346,324 (GRCm39) D186G possibly damaging Het
Psmc5 C A 11: 106,152,746 (GRCm39) Y189* probably null Het
Rasgrp4 A G 7: 28,838,521 (GRCm39) Y123C possibly damaging Het
Rtn4 A G 11: 29,658,633 (GRCm39) E929G probably benign Het
Scrn2 A T 11: 96,922,961 (GRCm39) I135F probably damaging Het
Sec24d T A 3: 123,148,585 (GRCm39) probably benign Het
Secisbp2l T C 2: 125,594,892 (GRCm39) T523A probably benign Het
Skic3 T C 13: 76,333,326 (GRCm39) L1525P probably damaging Het
Slain1 T A 14: 103,925,841 (GRCm39) probably null Het
Slc22a29 A G 19: 8,137,931 (GRCm39) V548A probably damaging Het
Slc25a32 T C 15: 38,969,339 (GRCm39) I65V probably benign Het
Slc30a7 A T 3: 115,740,317 (GRCm39) M378K possibly damaging Het
Smarcd1 T A 15: 99,608,975 (GRCm39) I383N probably damaging Het
Spata31h1 A T 10: 82,128,619 (GRCm39) S1464T probably benign Het
Spdye4b G T 5: 143,187,815 (GRCm39) K156N probably damaging Het
Sptb A G 12: 76,658,813 (GRCm39) Y1241H probably benign Het
Ssu2 G A 6: 112,357,956 (GRCm39) T129I probably damaging Het
Supt16 A G 14: 52,411,544 (GRCm39) V613A probably benign Het
Sycp3 A T 10: 88,302,388 (GRCm39) E126V probably damaging Het
Tatdn2 A T 6: 113,681,170 (GRCm39) Y401F probably damaging Het
Tigd4 T C 3: 84,501,547 (GRCm39) S155P probably benign Het
Tnrc6b A G 15: 80,802,290 (GRCm39) N1502S probably benign Het
Ttf2 A G 3: 100,870,644 (GRCm39) V143A probably benign Het
Ttn T A 2: 76,618,747 (GRCm39) D16179V probably damaging Het
Vmn2r106 A T 17: 20,488,401 (GRCm39) M666K probably benign Het
Vwa5b1 A T 4: 138,305,956 (GRCm39) V914D probably damaging Het
Wnk2 T C 13: 49,210,960 (GRCm39) M1632V probably benign Het
Zbtb26 T A 2: 37,326,913 (GRCm39) N41I probably damaging Het
Zc3h12a T C 4: 125,020,412 (GRCm39) N144D probably damaging Het
Zfp266 A T 9: 20,411,275 (GRCm39) C301S probably benign Het
Zfp580 A G 7: 5,056,216 (GRCm39) H192R possibly damaging Het
Zfp748 A G 13: 67,689,914 (GRCm39) C449R probably damaging Het
Zp2 T C 7: 119,733,025 (GRCm39) I612V probably benign Het
Other mutations in Myoc
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TCCCCGATTGAGACCATCAC -3'
(R):5'- TTGCTCTTTCCGAACTGAACAC -3'

Sequencing Primer
(F):5'- GATTGAGACCATCACCCTAGTTC -3'
(R):5'- GAACAAGGTATACATGCACACG -3'
Posted On 2021-07-15