Mutagenetix > Incidental Mutation

Incidental Mutation 'R0033:Myoc'

201255

Institutional Source

Beutler Lab

Gene Symbol

Myoc

Ensembl Gene

ENSMUSG00000026697

Gene Name

myocilin

Synonyms

TIGR, GLC1A

MMRRC Submission

038327-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0033 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

162466724-162477262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 162476010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 238 (G238E)

Ref Sequence

ENSEMBL: ENSMUSP00000028020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028020] [ENSMUST00000169439] [ENSMUST00000193898]

AlphaFold

O70624

Predicted Effect

probably damaging
Transcript: ENSMUST00000028020
AA Change: G238E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028020
Gene: ENSMUSG00000026697
AA Change: G238E

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

Meta Mutation Damage Score

0.6535

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 93.3%

Validation Efficiency

100% (81/81)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,115,794 (GRCm39)	F110L	probably damaging	Het
Agr3	C	T	12: 35,978,329 (GRCm39)	T14M	possibly damaging	Het
Ankib1	A	C	5: 3,819,588 (GRCm39)	D110E	possibly damaging	Het
Auts2	G	C	5: 131,468,931 (GRCm39)	D571E	probably damaging	Het
Cacna1d	T	A	14: 29,827,446 (GRCm39)	Q993L	probably damaging	Het
Cdkn3	C	A	14: 47,006,329 (GRCm39)	Y141*	probably null	Het
Ceacam12	T	G	7: 17,803,385 (GRCm39)		probably benign	Het
Celf1	T	C	2: 90,831,798 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,729,967 (GRCm39)	S1780P	probably damaging	Het
Csf3r	A	G	4: 125,925,677 (GRCm39)	T151A	probably benign	Het
Ctss	G	A	3: 95,452,888 (GRCm39)		probably benign	Het
Emilin2	G	T	17: 71,582,009 (GRCm39)	T239K	probably benign	Het
Erp44	T	C	4: 48,241,289 (GRCm39)		probably benign	Het
Fbxl4	T	C	4: 22,377,017 (GRCm39)	V151A	probably damaging	Het
Fer1l4	G	A	2: 155,866,026 (GRCm39)		probably benign	Het
Gm43302	T	C	5: 105,424,710 (GRCm39)	D310G	probably benign	Het
Gstk1	A	G	6: 42,223,737 (GRCm39)		probably benign	Het
Hapln1	A	T	13: 89,749,932 (GRCm39)	Q159L	probably benign	Het
Hibch	A	G	1: 52,944,610 (GRCm39)	K296R	probably null	Het
Katnip	T	G	7: 125,360,999 (GRCm39)	V103G	possibly damaging	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kdm7a	A	T	6: 39,142,131 (GRCm39)	Y382*	probably null	Het
Kirrel3	A	G	9: 34,912,259 (GRCm39)	I208V	probably benign	Het
Klc4	A	T	17: 46,946,359 (GRCm39)	C489S	probably damaging	Het
Lrrc8a	G	T	2: 30,145,357 (GRCm39)	C57F	probably damaging	Het
Ltbp1	A	G	17: 75,583,504 (GRCm39)	N435D	possibly damaging	Het
Macc1	T	A	12: 119,410,076 (GRCm39)	N281K	probably benign	Het
Myo16	A	T	8: 10,420,955 (GRCm39)	Y265F	probably damaging	Het
Nlrp12	A	C	7: 3,289,037 (GRCm39)	S492A	probably damaging	Het
Obscn	A	G	11: 58,885,572 (GRCm39)		probably benign	Het
Oplah	T	A	15: 76,181,334 (GRCm39)	Q1202L	probably benign	Het
Or5p62	G	T	7: 107,771,134 (GRCm39)	D272E	probably benign	Het
Or9s23	A	G	1: 92,500,982 (GRCm39)	T30A	probably benign	Het
Ppargc1b	G	A	18: 61,440,765 (GRCm39)	R718W	probably damaging	Het
Pramel19	A	T	4: 101,798,881 (GRCm39)	Y284F	probably benign	Het
Pwwp2b	A	T	7: 138,834,844 (GRCm39)	D95V	possibly damaging	Het
Rnf225	T	C	7: 12,662,085 (GRCm39)	L88P	probably damaging	Het
Slc12a1	A	G	2: 125,055,929 (GRCm39)	D820G	probably benign	Het
Slc12a4	G	T	8: 106,674,111 (GRCm39)		probably benign	Het
Slx4	C	T	16: 3,805,864 (GRCm39)	A72T	probably benign	Het
Snrnp200	T	C	2: 127,079,983 (GRCm39)	I1920T	probably damaging	Het
Stap2	C	T	17: 56,306,976 (GRCm39)	V234M	probably damaging	Het
Sv2b	A	G	7: 74,767,489 (GRCm39)	F636L	probably benign	Het
Tdp1	C	T	12: 99,901,311 (GRCm39)	T531I	probably benign	Het
Thra	G	A	11: 98,655,178 (GRCm39)	V353I	probably benign	Het
Tm7sf2	A	G	19: 6,116,452 (GRCm39)		probably benign	Het
Tmx4	A	T	2: 134,442,918 (GRCm39)		probably null	Het
Tnfrsf12a	A	G	17: 23,895,119 (GRCm39)		probably null	Het
Trav6n-5	T	A	14: 53,342,368 (GRCm39)	M14K	probably benign	Het
Ttn	T	A	2: 76,572,624 (GRCm39)	I26090F	probably damaging	Het
Tut1	G	T	19: 8,940,123 (GRCm39)	R369L	probably benign	Het
Uba5	T	A	9: 103,931,347 (GRCm39)	T241S	probably benign	Het
Unc13d	T	C	11: 115,959,991 (GRCm39)	T597A	probably benign	Het
Vmn1r58	A	T	7: 5,413,387 (GRCm39)	I281K	probably damaging	Het
Vmn1r59	A	G	7: 5,457,433 (GRCm39)	V109A	probably benign	Het
Xdh	T	A	17: 74,214,627 (GRCm39)	M773L	probably benign	Het
Zfp64	A	T	2: 168,767,635 (GRCm39)	I659N	possibly 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
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
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'- AGCAATCCCTGCTAACACTGAAGTC -3'
(R):5'- TTGGAAGGATAGCCCTGCTCGAAC -3'

Sequencing Primer
(F):5'- aagaaaaacaaatgagaaagtcaagg -3'
(R):5'- GCTCGAACTGGCTTATCTGAC -3'

Posted On

2014-05-27