Mutagenetix > Incidental Mutation

Incidental Mutation 'R4783:Optn'

366687

Institutional Source

Beutler Lab

Gene Symbol

Optn

Ensembl Gene

ENSMUSG00000026672

Gene Name

optineurin

Synonyms

TFIIIA-INTP, 4930441O07Rik

MMRRC Submission

042416-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R4783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5020642-5064051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5054627 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 27 (M27V)

Ref Sequence

ENSEMBL: ENSMUSP00000110648 (fasta)

Gene Model

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

AlphaFold

Q8K3K8

Predicted Effect

probably benign
Transcript: ENSMUST00000027986
AA Change: M27V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027986
Gene: ENSMUSG00000026672
AA Change: M27V

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
AA Change: M27V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110648
Gene: ENSMUSG00000026672
AA Change: M27V

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: ENSMUST00000143809

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (99/99)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	G	A	5: 30,105,200	R54*	probably null	Het
Acsl6	A	T	11: 54,336,993	M350L	probably damaging	Het
Adgrv1	T	C	13: 81,095,445	T6279A	probably damaging	Het
Ago3	A	T	4: 126,368,503	M418K	probably benign	Het
Ascc2	G	A	11: 4,646,653	R58H	probably benign	Het
Brinp3	A	G	1: 146,727,640		probably benign	Het
Carmil3	T	C	14: 55,501,321		probably null	Het
Ccdc47	T	A	11: 106,203,604	H7L	probably benign	Het
Ccndbp1	A	T	2: 121,008,522	T5S	probably benign	Het
Cdr2	A	T	7: 120,958,421	F294I	probably benign	Het
Chd8	C	A	14: 52,205,368	C575F	probably damaging	Het
Ctsll3	G	A	13: 60,800,395	T156I	probably damaging	Het
Dgcr8	G	A	16: 18,258,310	R4*	probably null	Het
Dnah1	T	A	14: 31,263,479	K3818N	probably damaging	Het
Dok2	C	T	14: 70,777,874	P347L	probably benign	Het
Elf1	T	A	14: 79,580,743	N567K	probably benign	Het
Emsy	T	C	7: 98,646,479	N72S	possibly damaging	Het
Fam155a	T	C	8: 9,208,026	Y374C	probably damaging	Het
Fam160a1	G	T	3: 85,688,570	T115K	probably damaging	Het
Fam76a	A	T	4: 132,902,117		probably null	Het
Fam76a	A	G	4: 132,916,190	Y78H	probably damaging	Het
Fbn1	A	T	2: 125,324,919	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,969,041	T312A	probably benign	Het
Flnb	A	T	14: 7,905,701	E1150D	probably benign	Het
Galt	T	C	4: 41,758,189	V318A	probably damaging	Het
Git1	T	G	11: 77,499,837	L133R	probably damaging	Het
Gm11168	G	A	9: 3,006,915	M213I	probably benign	Het
Gm7233	A	G	14: 43,179,966	E25G	probably benign	Het
Golga2	T	A	2: 32,297,156	N89K	probably damaging	Het
Grin1	T	A	2: 25,292,381	H956L	possibly damaging	Het
Hlcs	C	T	16: 94,268,539	V164I	possibly damaging	Het
Hmgcr	G	A	13: 96,666,193	T66M	probably damaging	Het
Ifi206	A	T	1: 173,480,866	H521Q	probably benign	Het
Lgals3bp	G	A	11: 118,393,514	T413I	probably damaging	Het
Lrrc7	A	G	3: 158,127,213		probably null	Het
Mapk11	T	C	15: 89,149,488	Y9C	probably damaging	Het
Mccc1	C	A	3: 35,975,873	M429I	probably damaging	Het
Metrnl	A	G	11: 121,707,924	E40G	probably benign	Het
Mrgpra1	A	G	7: 47,335,470	S154P	probably damaging	Het
Myh13	A	T	11: 67,341,270	I459F	probably damaging	Het
Nedd4l	C	A	18: 65,172,927	D424E	probably damaging	Het
Nid1	C	T	13: 13,499,741	R902W	probably damaging	Het
Nphp4	G	A	4: 152,554,546	R878K	probably benign	Het
Numa1	A	G	7: 102,013,566	T1997A	probably damaging	Het
Nutm1	G	A	2: 112,248,936	A878V	probably benign	Het
Nxf1	G	A	19: 8,766,798	A339T	probably benign	Het
Oas1b	C	A	5: 120,814,513	Q90K	probably benign	Het
Olfr1175-ps	A	G	2: 88,323,156	I183T	probably damaging	Het
Olfr1305	A	T	2: 111,873,050	D268E	possibly damaging	Het
Olfr186	G	T	16: 59,027,897	D3E	probably benign	Het
Olfr199	G	T	16: 59,215,859	F251L	probably damaging	Het
Olfr398	A	G	11: 73,984,008	F200S	probably damaging	Het
Olfr721-ps1	A	C	14: 14,407,729	Y167S	possibly damaging	Het
Olfr998	A	G	2: 85,590,938	T133A	probably benign	Het
Oxgr1	T	C	14: 120,022,364	I144V	probably benign	Het
Pax5	T	A	4: 44,570,086	T127S	probably damaging	Het
Pcsk2	T	C	2: 143,687,679		probably null	Het
Pdxk	A	G	10: 78,464,792	V19A	possibly damaging	Het
Pik3c2a	A	T	7: 116,417,825	S232R	probably damaging	Het
Ppip5k1	T	C	2: 121,340,848	D620G	possibly damaging	Het
Ppp4r4	T	A	12: 103,590,858		probably null	Het
Pqlc2	G	T	4: 139,300,001	H343Q	probably benign	Het
Psmd1	A	G	1: 86,078,712	N267D	probably damaging	Het
Pudp	A	G	18: 50,568,065	V199A	probably damaging	Het
Rasal3	T	A	17: 32,396,781	D361V	probably damaging	Het
Rbm12	T	C	2: 156,096,564	D596G	possibly damaging	Het
Rbm6	T	C	9: 107,852,903	D182G	probably damaging	Het
Rif1	T	C	2: 52,112,747	V2071A	probably damaging	Het
Rilp	C	T	11: 75,510,641	A110V	possibly damaging	Het
Rprd2	A	G	3: 95,774,333	V332A	probably benign	Het
Sbpl	T	A	17: 23,953,330	D205V	unknown	Het
Scn9a	T	C	2: 66,540,623	I538V	probably benign	Het
Serpina1d	T	C	12: 103,767,824	S74G	possibly damaging	Het
Serpina3n	T	C	12: 104,409,110	I147T	possibly damaging	Het
Serpinb8	A	G	1: 107,604,742	N188S	probably benign	Het
Sipa1l3	A	G	7: 29,377,641	V902A	probably damaging	Het
Slc25a47	T	A	12: 108,855,334	L123Q	probably damaging	Het
Slc30a2	A	T	4: 134,344,006		probably null	Het
Snx13	T	A	12: 35,098,286	D271E	probably damaging	Het
Tbc1d9b	A	G	11: 50,171,298	N1211S	probably benign	Het
Tdrd3	T	A	14: 87,472,101	I67N	probably damaging	Het
Thbs1	T	C	2: 118,114,792	V282A	probably benign	Het
Tmc8	A	G	11: 117,791,605		probably null	Het
Trim11	T	A	11: 58,988,924	F284Y	probably null	Het
Ttn	G	T	2: 76,721,797	Y29419*	probably null	Het
Ttn	A	G	2: 76,769,603	Y19076H	probably damaging	Het
Ubr4	T	C	4: 139,421,733	S448P	possibly damaging	Het
Ugt2b34	T	C	5: 86,891,473	E443G	probably damaging	Het
Usp29	A	G	7: 6,961,391	T78A	probably damaging	Het
Vmn1r227	A	G	17: 20,735,134		noncoding transcript	Het
Vmn1r85	A	T	7: 13,084,861	W119R	probably damaging	Het
Vmn2r12	A	T	5: 109,086,513	V611E	probably damaging	Het
Vmn2r97	A	T	17: 18,929,288	M313L	probably benign	Het
Zap70	T	C	1: 36,779,173	Y314H	probably damaging	Het
Zfp667	T	A	7: 6,305,685	F451I	possibly damaging	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
IGL01863:Optn	APN	2	5021487	splice site	probably benign
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
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	splice site	probably null
R7167:Optn	UTSW	2	5042483	missense	probably benign	0.00
R7685:Optn	UTSW	2	5054650	missense	probably benign	0.01
R8103:Optn	UTSW	2	5040202	missense	probably damaging	0.97
R8267:Optn	UTSW	2	5054651	missense	probably benign	0.00
R8844:Optn	UTSW	2	5027112	critical splice donor site	probably null
R9082:Optn	UTSW	2	5054640	missense	probably damaging	1.00
R9141:Optn	UTSW	2	5054674	missense	possibly damaging	0.93
R9238:Optn	UTSW	2	5053140	missense	probably damaging	1.00
R9260:Optn	UTSW	2	5040265	missense	probably benign
R9287:Optn	UTSW	2	5031315	missense	probably damaging	0.98
R9426:Optn	UTSW	2	5054674	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GCCAAAGTTTTGCTGTGCTG -3'
(R):5'- CAACCCTGGGATTTACTACCTC -3'

Sequencing Primer
(F):5'- CCTCTAGGGAAACAAGCTGAG -3'
(R):5'- GGGATTTACTACCTCTCATTCCTAG -3'

Posted On

2015-12-29