Mutagenetix > Incidental Mutation

Incidental Mutation 'R5629:Myoc'

441957

Institutional Source

Beutler Lab

Gene Symbol

Myoc

Ensembl Gene

ENSMUSG00000026697

Gene Name

myocilin

Synonyms

TIGR, GLC1A

MMRRC Submission

043280-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

162466724-162477262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 162476156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 287 (Y287H)

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: Y287H

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

SMART Domains

Protein: ENSMUSP00000028020
Gene: ENSMUSG00000026697
AA Change: Y287H

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: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 36,014,507 (GRCm39)	D189N	probably benign	Het
Adamts9	A	T	6: 92,775,114 (GRCm39)	V1052D	probably damaging	Het
Apob	T	C	12: 8,057,847 (GRCm39)	Y2077H	probably damaging	Het
Apol7e	A	T	15: 77,602,276 (GRCm39)	K291N	probably benign	Het
Arsk	A	T	13: 76,242,027 (GRCm39)	I82N	probably damaging	Het
Art1	A	G	7: 101,756,286 (GRCm39)	Q159R	probably benign	Het
Atp2a2	A	G	5: 122,598,159 (GRCm39)	V733A	probably damaging	Het
Btn2a2	A	T	13: 23,666,130 (GRCm39)		probably null	Het
Catsper1	C	T	19: 5,386,165 (GRCm39)	P133S	probably benign	Het
Celsr3	A	G	9: 108,726,266 (GRCm39)	D3165G	probably benign	Het
Cldn19	T	A	4: 119,114,116 (GRCm39)	V86E	probably damaging	Het
Ctnna1	T	A	18: 35,382,802 (GRCm39)	D649E	probably benign	Het
Cttnbp2	A	G	6: 18,405,217 (GRCm39)	I1094T	probably damaging	Het
Ddx24	T	C	12: 103,391,806 (GRCm39)		probably benign	Het
Ern2	T	A	7: 121,769,389 (GRCm39)	H879L	probably damaging	Het
Etv4	T	A	11: 101,662,751 (GRCm39)	H277L	probably damaging	Het
Faap100	G	T	11: 120,267,837 (GRCm39)	A312D	probably damaging	Het
Glipr1l1	G	A	10: 111,914,308 (GRCm39)	C223Y	possibly damaging	Het
Gna14	T	C	19: 16,414,097 (GRCm39)	S14P	possibly damaging	Het
Hapln1	A	G	13: 89,749,634 (GRCm39)	T60A	probably damaging	Het
Hars2	T	A	18: 36,921,719 (GRCm39)	Y273*	probably null	Het
Ighv5-6	A	T	12: 113,589,242 (GRCm39)	Y79*	probably null	Het
Iqgap2	T	A	13: 95,768,682 (GRCm39)	N1406I	probably damaging	Het
Kalrn	T	C	16: 33,860,304 (GRCm39)	T215A	possibly damaging	Het
Krtap13-1	T	A	16: 88,526,047 (GRCm39)	S90R	probably benign	Het
Mettl8	T	C	2: 70,795,913 (GRCm39)	I372V	probably benign	Het
Mfn1	A	T	3: 32,615,659 (GRCm39)	T341S	possibly damaging	Het
Mocos	T	A	18: 24,797,142 (GRCm39)		probably null	Het
Muc5b	T	C	7: 141,415,036 (GRCm39)	S2661P	possibly damaging	Het
Myo15a	C	T	11: 60,370,578 (GRCm39)	P1113S	probably benign	Het
Myo5a	A	T	9: 75,111,127 (GRCm39)	I1540F	possibly damaging	Het
Napepld	A	G	5: 21,880,901 (GRCm39)	F165L	probably benign	Het
Ndufb10	T	C	17: 24,941,656 (GRCm39)	E102G	probably damaging	Het
Nrros	T	A	16: 31,963,223 (GRCm39)	I265F	probably damaging	Het
Nrxn1	A	T	17: 90,897,460 (GRCm39)	F891I	possibly damaging	Het
Nsfl1c	T	C	2: 151,346,085 (GRCm39)	Y169H	probably damaging	Het
Oas2	G	A	5: 120,876,516 (GRCm39)	Q476*	probably null	Het
Or51f5	A	T	7: 102,423,847 (GRCm39)	I39F	possibly damaging	Het
Pcnx2	C	A	8: 126,624,780 (GRCm39)	W14L	probably damaging	Het
Pip4p1	T	C	14: 51,165,373 (GRCm39)	H278R	probably benign	Het
Piwil2	C	T	14: 70,660,416 (GRCm39)	V70M	probably damaging	Het
Prss23	A	C	7: 89,159,400 (GRCm39)	V223G	probably damaging	Het
Rarres2	A	T	6: 48,547,194 (GRCm39)	L122Q	probably benign	Het
Robo1	T	C	16: 72,780,598 (GRCm39)	V776A	probably benign	Het
Robo3	G	A	9: 37,330,507 (GRCm39)	Q1008*	probably null	Het
Robo4	G	A	9: 37,319,658 (GRCm39)	C636Y	probably damaging	Het
Sacm1l	A	G	9: 123,395,464 (GRCm39)	M196V	probably benign	Het
Septin7	T	A	9: 25,199,589 (GRCm39)	Y163N	probably damaging	Het
Skint6	G	A	4: 112,870,176 (GRCm39)	T594I	possibly damaging	Het
Slc23a1	T	C	18: 35,759,545 (GRCm39)	H13R	probably benign	Het
Slc25a39	A	C	11: 102,295,719 (GRCm39)	Y109*	probably null	Het
Slc8a3	G	A	12: 81,246,405 (GRCm39)	R883C	probably damaging	Het
Spag17	A	T	3: 99,987,435 (GRCm39)	Y1575F	probably benign	Het
Spdye4c	T	A	2: 128,438,705 (GRCm39)	I321N	probably damaging	Het
Stk32b	G	A	5: 37,614,576 (GRCm39)	P311S	probably damaging	Het
Svs3a	T	A	2: 164,132,040 (GRCm39)	S203T	probably benign	Het
Taf3	A	T	2: 9,922,989 (GRCm39)	I45N	probably damaging	Het
Taf7	T	C	18: 37,776,555 (GRCm39)	N4S	probably benign	Het
Tial1	T	A	7: 128,046,421 (GRCm39)	D87V	probably damaging	Het
Tmem120a	T	A	5: 135,770,904 (GRCm39)	E78V	probably benign	Het
Tmem19	A	G	10: 115,183,165 (GRCm39)	F137L	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trim30d	T	C	7: 104,137,136 (GRCm39)	K23E	possibly damaging	Het
Ubxn7	C	A	16: 32,151,117 (GRCm39)	H4Q	unknown	Het
Usp40	C	T	1: 87,908,731 (GRCm39)	R590H	probably benign	Het
Vmn1r90	A	G	7: 14,296,011 (GRCm39)	M22T	possibly damaging	Het
Vmn2r1	G	A	3: 64,012,538 (GRCm39)	V800M	possibly damaging	Het
Vps11	A	T	9: 44,267,673 (GRCm39)	I313N	probably damaging	Het
Zhx1	A	G	15: 57,918,207 (GRCm39)	V13A	probably damaging	Het
Zic4	G	A	9: 91,260,805 (GRCm39)	R20H	probably benign	Het
Zp3r	C	T	1: 130,510,616 (GRCm39)	V369M	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
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'- ATCAGGATGTGGAGCGCTAG -3'
(R):5'- TCAATGTCTGTGTAGCCACCC -3'

Sequencing Primer
(F):5'- CTAGTCTGGGTAGGAGAGCC -3'
(R):5'- TGGTAGCCAGCTCCAGGAATTTC -3'

Posted On

2016-11-08