Mutagenetix > Incidental Mutation

Incidental Mutation 'R0573:Myoc'

46504

Institutional Source

Beutler Lab

Gene Symbol

Myoc

Ensembl Gene

ENSMUSG00000026697

Gene Name

myocilin

Synonyms

TIGR, GLC1A

MMRRC Submission

038763-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0573 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

162466724-162477262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 162476243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 316 (Y316H)

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: Y316H

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

SMART Domains

Protein: ENSMUSP00000028020
Gene: ENSMUSG00000026697
AA Change: Y316H

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

0.6647

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.5%

Validation Efficiency

97% (60/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,455,278 (GRCm39)	K698N	possibly damaging	Het
Adcy8	A	T	15: 64,694,044 (GRCm39)	V411D	probably damaging	Het
Arfgef3	T	A	10: 18,475,036 (GRCm39)	E1550V	probably damaging	Het
Asb3	T	A	11: 31,011,406 (GRCm39)	I306K	probably damaging	Het
Asic4	T	A	1: 75,445,746 (GRCm39)		probably benign	Het
Basp1	G	T	15: 25,364,948 (GRCm39)	D16E	unknown	Het
Cbll1	A	T	12: 31,540,539 (GRCm39)	I123N	probably damaging	Het
Ccdc141	A	T	2: 76,869,837 (GRCm39)	H889Q	probably benign	Het
Ccdc65	T	C	15: 98,618,930 (GRCm39)	V303A	probably benign	Het
Ceacam20	T	A	7: 19,720,593 (GRCm39)	M60K	probably damaging	Het
Chd9	T	A	8: 91,725,223 (GRCm39)	V711D	probably damaging	Het
Clcn1	T	A	6: 42,289,979 (GRCm39)		probably null	Het
Col16a1	A	T	4: 129,962,268 (GRCm39)		probably benign	Het
Col4a3	C	A	1: 82,694,084 (GRCm39)	P1568Q	possibly damaging	Het
Colec12	C	A	18: 9,858,650 (GRCm39)	P478T	probably damaging	Het
Dchs1	T	C	7: 105,407,985 (GRCm39)	H1949R	probably damaging	Het
Dgka	A	G	10: 128,572,876 (GRCm39)		probably null	Het
Dlgap4	A	G	2: 156,588,111 (GRCm39)	I669V	probably benign	Het
Dsg1c	T	A	18: 20,412,298 (GRCm39)	D543E	probably benign	Het
Egflam	A	T	15: 7,271,906 (GRCm39)	C677*	probably null	Het
Eml5	A	C	12: 98,791,031 (GRCm39)		probably null	Het
Fbn1	G	A	2: 125,231,169 (GRCm39)	R466C	probably damaging	Het
Fnbp1	C	A	2: 30,948,990 (GRCm39)	D198Y	probably damaging	Het
Gfra3	T	A	18: 34,824,668 (GRCm39)	M272L	probably benign	Het
Gm5422	T	A	10: 31,126,156 (GRCm39)		noncoding transcript	Het
Gpr21	T	A	2: 37,407,556 (GRCm39)	I34N	probably damaging	Het
Hspb2	G	T	9: 50,662,664 (GRCm39)	T155K	probably benign	Het
Il21r	A	G	7: 125,224,457 (GRCm39)	T24A	probably benign	Het
Mmadhc	T	A	2: 50,182,847 (GRCm39)	H43L	possibly damaging	Het
Morn1	T	A	4: 155,195,473 (GRCm39)	D278E	possibly damaging	Het
Nags	A	G	11: 102,037,805 (GRCm39)	D266G	probably damaging	Het
Nlrp4b	A	G	7: 10,448,142 (GRCm39)	N115S	probably benign	Het
Nlrp5	T	A	7: 23,117,056 (GRCm39)	I260N	probably damaging	Het
Obscn	G	A	11: 58,926,905 (GRCm39)	R6190C	probably damaging	Het
Or5b24	T	C	19: 12,912,624 (GRCm39)	V174A	possibly damaging	Het
Or5be3	A	G	2: 86,863,812 (GRCm39)	F251S	probably damaging	Het
Orc4	C	T	2: 48,807,285 (GRCm39)	M215I	probably benign	Het
Osbpl6	A	T	2: 76,420,735 (GRCm39)	H770L	probably damaging	Het
Otogl	A	C	10: 107,616,849 (GRCm39)	N1809K	probably benign	Het
Pde3a	G	T	6: 141,437,957 (GRCm39)	V1009L	probably damaging	Het
Pign	T	C	1: 105,580,902 (GRCm39)	Y159C	probably damaging	Het
Pik3cg	C	A	12: 32,247,196 (GRCm39)	M842I	probably damaging	Het
Pnliprp1	C	T	19: 58,723,314 (GRCm39)	T235I	possibly damaging	Het
Pramel17	A	C	4: 101,692,611 (GRCm39)	V463G	probably damaging	Het
Prpf8	A	G	11: 75,381,480 (GRCm39)	N239D	probably damaging	Het
Psd2	T	A	18: 36,113,546 (GRCm39)		probably benign	Het
Ptprt	T	C	2: 161,393,668 (GRCm39)	D1251G	probably damaging	Het
Pwp2	G	A	10: 78,018,520 (GRCm39)	S88L	probably benign	Het
Rassf4	C	T	6: 116,624,516 (GRCm39)		probably benign	Het
Rexo1	A	G	10: 80,380,684 (GRCm39)	S884P	probably damaging	Het
Rgs20	C	A	1: 5,091,037 (GRCm39)	R131L	possibly damaging	Het
Setd4	A	G	16: 93,386,834 (GRCm39)	V288A	probably benign	Het
Stx3	G	T	19: 11,763,110 (GRCm39)	T160K	probably damaging	Het
Tas2r102	T	A	6: 132,739,636 (GRCm39)	S181R	probably damaging	Het
Tenm3	T	C	8: 49,127,434 (GRCm39)		probably benign	Het
Tmem33	T	C	5: 67,421,603 (GRCm39)		probably benign	Het
Trim33	A	G	3: 103,259,306 (GRCm39)		probably benign	Het
Trip11	A	G	12: 101,853,119 (GRCm39)	I491T	probably benign	Het
Trp53bp1	A	G	2: 121,058,653 (GRCm39)		probably benign	Het
Tuba4a	T	C	1: 75,193,017 (GRCm39)	D199G	probably benign	Het
Zcchc4	A	G	5: 52,953,321 (GRCm39)	Y110C	probably damaging	Het
Zp2	C	T	7: 119,734,693 (GRCm39)		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
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'- GCTGAAACAATCGCTGGCAAGTATG -3'
(R):5'- TACGCTCAAGTTCCAGGTTCGC -3'

Sequencing Primer
(F):5'- AGTGTGGATGAGAGACCCC -3'
(R):5'- CGTGCTGTAGATGACCCAGAG -3'

Posted On

2013-06-11