Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01863:Optn'

178434

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Optn

Ensembl Gene

ENSMUSG00000026672

Gene Name

optineurin

Synonyms

TFIIIA-INTP, 4930441O07Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

IGL01863

Quality Score

Status

Chromosome

Chromosomal Location

5020642-5064051 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 5021487 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110648 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000027986

SMART Domains

Protein: ENSMUSP00000027986
Gene: ENSMUSG00000026672

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

probably benign
Transcript: ENSMUST00000114996

SMART Domains

Protein: ENSMUSP00000110648
Gene: ENSMUSG00000026672

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

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	T	A	10: 42,339,911	I326F	possibly damaging	Het
Aimp1	T	C	3: 132,672,092	T171A	probably benign	Het
Armc4	T	C	18: 7,222,617	T551A	probably damaging	Het
Ash1l	T	A	3: 88,985,506	L1564*	probably null	Het
Atp1a1	G	T	3: 101,591,889	Y131*	probably null	Het
Celsr2	T	C	3: 108,394,022	E2686G	probably benign	Het
Cyp4f18	A	G	8: 71,989,926	V395A	possibly damaging	Het
Ephb2	T	C	4: 136,659,777	Q713R	probably benign	Het
Esf1	A	T	2: 140,120,679	M824K	probably benign	Het
Fam46c	C	T	3: 100,472,664	D259N	probably benign	Het
Fat4	T	C	3: 38,970,619		probably benign	Het
Gem	A	G	4: 11,705,980	I23V	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Il6st	A	G	13: 112,504,210	E779G	possibly damaging	Het
Lama3	T	A	18: 12,419,936		probably benign	Het
Lipi	A	C	16: 75,550,226	I435R	probably damaging	Het
Lrrc6	A	T	15: 66,396,974		probably benign	Het
Olfr291	T	C	7: 84,856,411	L14P	probably damaging	Het
Omg	C	T	11: 79,502,224	M269I	probably benign	Het
Pex1	A	G	5: 3,606,066	T298A	probably benign	Het
Rab27b	T	A	18: 69,989,554	R111S	probably damaging	Het
Rhbdf1	T	G	11: 32,213,484	E329D	probably benign	Het
Slc2a13	T	C	15: 91,516,492	I176V	probably benign	Het
Slc30a1	T	A	1: 191,909,084	C281S	probably damaging	Het
Slc4a7	T	A	14: 14,762,430	C509S	probably damaging	Het
Slfn9	T	C	11: 82,981,325	R862G	probably benign	Het
Tbc1d2	A	G	4: 46,607,064	I782T	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vps33b	T	C	7: 80,274,311		probably null	Het
Wrap73	A	G	4: 154,145,333	I54V	probably benign	Het

Other mutations in Optn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Optn	APN	2	5033156	missense	possibly damaging	0.93
IGL01433:Optn	APN	2	5027144	missense	probably benign	0.07
IGL01480:Optn	APN	2	5046018	missense	probably benign	0.01
IGL02108:Optn	APN	2	5031273	missense	possibly damaging	0.91
IGL02150:Optn	APN	2	5033152	missense	probably damaging	0.97
IGL02623:Optn	APN	2	5035022	missense	probably damaging	1.00
R0119:Optn	UTSW	2	5024115	missense	probably damaging	1.00
R0121:Optn	UTSW	2	5024115	missense	probably damaging	1.00
R0330:Optn	UTSW	2	5034255	missense	possibly damaging	0.53
R0332:Optn	UTSW	2	5024115	missense	probably damaging	1.00
R0335:Optn	UTSW	2	5024115	missense	probably damaging	1.00
R0390:Optn	UTSW	2	5046195	missense	probably benign
R0437:Optn	UTSW	2	5024115	missense	probably damaging	1.00
R1710:Optn	UTSW	2	5053130	missense	possibly damaging	0.90
R2229:Optn	UTSW	2	5024117	missense	probably damaging	1.00
R3237:Optn	UTSW	2	5034203	missense	probably damaging	1.00
R3740:Optn	UTSW	2	5034198	missense	possibly damaging	0.51
R3741:Optn	UTSW	2	5034198	missense	possibly damaging	0.51
R4667:Optn	UTSW	2	5033139	missense	probably benign	0.20
R4783:Optn	UTSW	2	5054627	missense	probably benign
R4965:Optn	UTSW	2	5021379	missense	probably benign	0.14
R5121:Optn	UTSW	2	5046106	missense	probably benign	0.25
R6119:Optn	UTSW	2	5021323	splice site	probably null
R7024:Optn	UTSW	2	5052837	intron	probably null
R7167:Optn	UTSW	2	5042483	missense	probably benign	0.00
R7685:Optn	UTSW	2	5054650	missense	probably benign	0.01

Posted On

2014-05-07