Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01295:Optn'

73076

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Optn

Ensembl Gene

ENSMUSG00000026672

Gene Name

optineurin

Synonyms

TFIIIA-INTP, 4930441O07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

IGL01295

Quality Score

Status

Chromosome

Chromosomal Location

5025453-5068862 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5037967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 409 (T409I)

Ref Sequence

ENSEMBL: ENSMUSP00000110648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027986] [ENSMUST00000114996]

AlphaFold

Q8K3K8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027986
AA Change: T409I

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027986
Gene: ENSMUSG00000026672
AA Change: T409I

Domain	Start	End	E-Value	Type
Pfam:NEMO	37	104	2e-27	PFAM
coiled coil region	243	278	N/A	INTRINSIC
PDB:2ZVO\|D	424	512	2e-11	PDB
PDB:2LO4\|A	551	584	4e-15	PDB
Blast:ZnF_C2H2	560	580	2e-6	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114996
AA Change: T409I

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110648
Gene: ENSMUSG00000026672
AA Change: T409I

Domain	Start	End	E-Value	Type
Pfam:NEMO	37	104	2e-27	PFAM
coiled coil region	243	278	N/A	INTRINSIC
Pfam:CC2-LZ	407	510	3.2e-33	PFAM
PDB:2LO4\|A	551	584	4e-15	PDB
Blast:ZnF_C2H2	560	580	2e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145585

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice hypomorphic allele exhibit background sensitive embryonic lethality with surviving mice exhibiting normal immune cell development, T and B cell activation and TNF- or LPS-mediated activation of cells of the innate immune system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,383,893 (GRCm39)	L691I	possibly damaging	Het
Ano7	A	G	1: 93,308,200 (GRCm39)	D77G	probably benign	Het
Apol10b	A	T	15: 77,469,796 (GRCm39)	V127E	probably damaging	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Atn1	T	C	6: 124,726,239 (GRCm39)	E80G	probably damaging	Het
Carmil2	T	C	8: 106,422,148 (GRCm39)	M1139T	probably benign	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Celf5	G	T	10: 81,302,914 (GRCm39)		probably benign	Het
Chd6	G	A	2: 160,830,290 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,551,208 (GRCm39)	V2136E	probably damaging	Het
Col4a1	G	T	8: 11,286,075 (GRCm39)		probably benign	Het
Dph1	A	G	11: 75,071,775 (GRCm39)		probably benign	Het
Dvl2	G	T	11: 69,900,410 (GRCm39)	V735F	possibly damaging	Het
Eif3b	A	G	5: 140,427,495 (GRCm39)	I709V	possibly damaging	Het
Elp5	C	T	11: 69,859,296 (GRCm39)		probably benign	Het
Exd1	A	T	2: 119,360,560 (GRCm39)		probably benign	Het
Fbxl4	C	A	4: 22,427,348 (GRCm39)	R530S	probably benign	Het
Fmo4	A	T	1: 162,626,693 (GRCm39)	D284E	probably damaging	Het
Fn3krp	A	G	11: 121,312,380 (GRCm39)	Y31C	probably damaging	Het
Galnt14	G	T	17: 73,811,914 (GRCm39)	Q436K	probably benign	Het
Gm5114	A	T	7: 39,057,241 (GRCm39)	W793R	probably damaging	Het
Gm9376	T	G	14: 118,505,059 (GRCm39)	S164A	possibly damaging	Het
Gtf2ird2	G	A	5: 134,221,603 (GRCm39)	D69N	probably damaging	Het
Hfm1	A	C	5: 107,065,472 (GRCm39)	M69R	possibly damaging	Het
Ighv9-1	A	C	12: 114,057,619 (GRCm39)	S94A	probably damaging	Het
Ikzf2	C	T	1: 69,617,146 (GRCm39)	R67H	probably benign	Het
Ipcef1	A	T	10: 6,850,642 (GRCm39)	F316L	probably damaging	Het
Kdsr	A	G	1: 106,683,187 (GRCm39)	V62A	possibly damaging	Het
Kif23	A	T	9: 61,839,411 (GRCm39)	C279S	possibly damaging	Het
Klf5	C	T	14: 99,539,157 (GRCm39)	T110I	probably benign	Het
Klhl25	T	A	7: 75,515,620 (GRCm39)	H175Q	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Nfatc4	T	C	14: 56,069,962 (GRCm39)	V710A	probably benign	Het
Or10j3b	A	T	1: 173,043,440 (GRCm39)	Y74F	probably damaging	Het
Or52a5	C	T	7: 103,427,448 (GRCm39)	V35I	probably benign	Het
Pabpc2	T	A	18: 39,907,082 (GRCm39)	Y116N	probably damaging	Het
Pafah1b1	G	T	11: 74,574,473 (GRCm39)	R238S	probably damaging	Het
Pdzd9	C	T	7: 120,267,618 (GRCm39)	G66R	probably damaging	Het
Pih1d1	T	C	7: 44,809,388 (GRCm39)	L285P	probably damaging	Het
Pirb	G	A	7: 3,720,405 (GRCm39)	P323S	probably damaging	Het
Pkd1l1	A	G	11: 8,883,685 (GRCm39)	F396L	possibly damaging	Het
Pla2g4d	G	A	2: 120,112,207 (GRCm39)	T108M	probably damaging	Het
Plin3	T	C	17: 56,586,814 (GRCm39)	Y411C	probably damaging	Het
Ppfibp2	T	C	7: 107,346,746 (GRCm39)		probably benign	Het
Prrc2c	T	C	1: 162,510,061 (GRCm39)	S995G	probably damaging	Het
Ptf1a	T	C	2: 19,451,429 (GRCm39)	I253T	probably damaging	Het
Ptprb	A	G	10: 116,198,553 (GRCm39)	I1684V	probably benign	Het
Ptprk	G	A	10: 28,351,174 (GRCm39)	V556I	probably benign	Het
Rffl	A	T	11: 82,709,283 (GRCm39)	C47S	probably damaging	Het
Rnf17	C	T	14: 56,700,521 (GRCm39)	Q569*	probably null	Het
Shprh	A	G	10: 11,059,612 (GRCm39)	E1121G	probably damaging	Het
Slc1a5	A	G	7: 16,529,787 (GRCm39)	D402G	probably damaging	Het
Slc24a3	G	A	2: 145,458,634 (GRCm39)		probably null	Het
Slc2a13	T	A	15: 91,234,335 (GRCm39)		probably null	Het
Slc30a8	A	T	15: 52,169,955 (GRCm39)	N61Y	possibly damaging	Het
Slitrk6	A	T	14: 110,988,868 (GRCm39)	S280T	possibly damaging	Het
Smad2	G	A	18: 76,435,501 (GRCm39)	A365T	probably benign	Het
Tcp10b	C	T	17: 13,299,047 (GRCm39)	P367S	probably damaging	Het
Tdp1	A	G	12: 99,857,929 (GRCm39)	N163D	probably benign	Het
Thbs1	A	G	2: 117,948,808 (GRCm39)	D488G	possibly damaging	Het
Trappc12	C	T	12: 28,796,761 (GRCm39)	S257N	probably damaging	Het
Treml1	T	C	17: 48,672,627 (GRCm39)		probably benign	Het
Ugt2b36	A	G	5: 87,228,744 (GRCm39)	V234A	probably damaging	Het
Vmn2r86	T	G	10: 130,288,895 (GRCm39)	H202P	probably damaging	Het
Vmn2r87	C	A	10: 130,307,878 (GRCm39)	V787F	probably damaging	Het
Wbp2nl	T	A	15: 82,190,619 (GRCm39)	M129K	probably damaging	Het
Zdhhc15	T	C	X: 103,588,519 (GRCm39)		probably null	Het

Other mutations in Optn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Optn	APN	2	5,031,955 (GRCm39)	missense	probably benign	0.07
IGL01480:Optn	APN	2	5,050,829 (GRCm39)	missense	probably benign	0.01
IGL01863:Optn	APN	2	5,026,298 (GRCm39)	splice site	probably benign
IGL02108:Optn	APN	2	5,036,084 (GRCm39)	missense	possibly damaging	0.91
IGL02150:Optn	APN	2	5,037,963 (GRCm39)	missense	probably damaging	0.97
IGL02623:Optn	APN	2	5,039,833 (GRCm39)	missense	probably damaging	1.00
R0119:Optn	UTSW	2	5,028,926 (GRCm39)	missense	probably damaging	1.00
R0121:Optn	UTSW	2	5,028,926 (GRCm39)	missense	probably damaging	1.00
R0330:Optn	UTSW	2	5,039,066 (GRCm39)	missense	possibly damaging	0.53
R0332:Optn	UTSW	2	5,028,926 (GRCm39)	missense	probably damaging	1.00
R0335:Optn	UTSW	2	5,028,926 (GRCm39)	missense	probably damaging	1.00
R0390:Optn	UTSW	2	5,051,006 (GRCm39)	missense	probably benign
R0437:Optn	UTSW	2	5,028,926 (GRCm39)	missense	probably damaging	1.00
R1710:Optn	UTSW	2	5,057,941 (GRCm39)	missense	possibly damaging	0.90
R2229:Optn	UTSW	2	5,028,928 (GRCm39)	missense	probably damaging	1.00
R3237:Optn	UTSW	2	5,039,014 (GRCm39)	missense	probably damaging	1.00
R3740:Optn	UTSW	2	5,039,009 (GRCm39)	missense	possibly damaging	0.51
R3741:Optn	UTSW	2	5,039,009 (GRCm39)	missense	possibly damaging	0.51
R4667:Optn	UTSW	2	5,037,950 (GRCm39)	missense	probably benign	0.20
R4783:Optn	UTSW	2	5,059,438 (GRCm39)	missense	probably benign
R4965:Optn	UTSW	2	5,026,190 (GRCm39)	missense	probably benign	0.14
R5121:Optn	UTSW	2	5,050,917 (GRCm39)	missense	probably benign	0.25
R6119:Optn	UTSW	2	5,026,134 (GRCm39)	splice site	probably null
R7024:Optn	UTSW	2	5,057,648 (GRCm39)	splice site	probably null
R7167:Optn	UTSW	2	5,047,294 (GRCm39)	missense	probably benign	0.00
R7685:Optn	UTSW	2	5,059,461 (GRCm39)	missense	probably benign	0.01
R8103:Optn	UTSW	2	5,045,013 (GRCm39)	missense	probably damaging	0.97
R8267:Optn	UTSW	2	5,059,462 (GRCm39)	missense	probably benign	0.00
R8844:Optn	UTSW	2	5,031,923 (GRCm39)	critical splice donor site	probably null
R9082:Optn	UTSW	2	5,059,451 (GRCm39)	missense	probably damaging	1.00
R9141:Optn	UTSW	2	5,059,485 (GRCm39)	missense	possibly damaging	0.93
R9238:Optn	UTSW	2	5,057,951 (GRCm39)	missense	probably damaging	1.00
R9260:Optn	UTSW	2	5,045,076 (GRCm39)	missense	probably benign
R9287:Optn	UTSW	2	5,036,126 (GRCm39)	missense	probably damaging	0.98
R9426:Optn	UTSW	2	5,059,485 (GRCm39)	missense	possibly damaging	0.93
R9787:Optn	UTSW	2	5,036,150 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07