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

Essential gene?

Probably non essential (E-score: 0.125) 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 (GRCm38)	R54*	probably null	Het
Acsl6	A	T	11: 54,336,993 (GRCm38)	M350L	probably damaging	Het
Adgrv1	T	C	13: 81,095,445 (GRCm38)	T6279A	probably damaging	Het
Ago3	A	T	4: 126,368,503 (GRCm38)	M418K	probably benign	Het
Ascc2	G	A	11: 4,646,653 (GRCm38)	R58H	probably benign	Het
Brinp3	A	G	1: 146,727,640 (GRCm38)		probably benign	Het
Carmil3	T	C	14: 55,501,321 (GRCm38)		probably null	Het
Ccdc47	T	A	11: 106,203,604 (GRCm38)	H7L	probably benign	Het
Ccndbp1	A	T	2: 121,008,522 (GRCm38)	T5S	probably benign	Het
Cdr2	A	T	7: 120,958,421 (GRCm38)	F294I	probably benign	Het
Chd8	C	A	14: 52,205,368 (GRCm38)	C575F	probably damaging	Het
Ctsll3	G	A	13: 60,800,395 (GRCm38)	T156I	probably damaging	Het
Dgcr8	G	A	16: 18,258,310 (GRCm38)	R4*	probably null	Het
Dnah1	T	A	14: 31,263,479 (GRCm38)	K3818N	probably damaging	Het
Dok2	C	T	14: 70,777,874 (GRCm38)	P347L	probably benign	Het
Elf1	T	A	14: 79,580,743 (GRCm38)	N567K	probably benign	Het
Emsy	T	C	7: 98,646,479 (GRCm38)	N72S	possibly damaging	Het
Fam155a	T	C	8: 9,208,026 (GRCm38)	Y374C	probably damaging	Het
Fam160a1	G	T	3: 85,688,570 (GRCm38)	T115K	probably damaging	Het
Fam76a	A	T	4: 132,902,117 (GRCm38)		probably null	Het
Fam76a	A	G	4: 132,916,190 (GRCm38)	Y78H	probably damaging	Het
Fbn1	A	T	2: 125,324,919 (GRCm38)	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,969,041 (GRCm38)	T312A	probably benign	Het
Flnb	A	T	14: 7,905,701 (GRCm38)	E1150D	probably benign	Het
Galt	T	C	4: 41,758,189 (GRCm38)	V318A	probably damaging	Het
Git1	T	G	11: 77,499,837 (GRCm38)	L133R	probably damaging	Het
Gm11168	G	A	9: 3,006,915 (GRCm38)	M213I	probably benign	Het
Gm7233	A	G	14: 43,179,966 (GRCm38)	E25G	probably benign	Het
Golga2	T	A	2: 32,297,156 (GRCm38)	N89K	probably damaging	Het
Grin1	T	A	2: 25,292,381 (GRCm38)	H956L	possibly damaging	Het
Hlcs	C	T	16: 94,268,539 (GRCm38)	V164I	possibly damaging	Het
Hmgcr	G	A	13: 96,666,193 (GRCm38)	T66M	probably damaging	Het
Ifi206	A	T	1: 173,480,866 (GRCm38)	H521Q	probably benign	Het
Lgals3bp	G	A	11: 118,393,514 (GRCm38)	T413I	probably damaging	Het
Lrrc7	A	G	3: 158,127,213 (GRCm38)		probably null	Het
Mapk11	T	C	15: 89,149,488 (GRCm38)	Y9C	probably damaging	Het
Mccc1	C	A	3: 35,975,873 (GRCm38)	M429I	probably damaging	Het
Metrnl	A	G	11: 121,707,924 (GRCm38)	E40G	probably benign	Het
Mrgpra1	A	G	7: 47,335,470 (GRCm38)	S154P	probably damaging	Het
Myh13	A	T	11: 67,341,270 (GRCm38)	I459F	probably damaging	Het
Nedd4l	C	A	18: 65,172,927 (GRCm38)	D424E	probably damaging	Het
Nid1	C	T	13: 13,499,741 (GRCm38)	R902W	probably damaging	Het
Nphp4	G	A	4: 152,554,546 (GRCm38)	R878K	probably benign	Het
Numa1	A	G	7: 102,013,566 (GRCm38)	T1997A	probably damaging	Het
Nutm1	G	A	2: 112,248,936 (GRCm38)	A878V	probably benign	Het
Nxf1	G	A	19: 8,766,798 (GRCm38)	A339T	probably benign	Het
Oas1b	C	A	5: 120,814,513 (GRCm38)	Q90K	probably benign	Het
Olfr1175-ps	A	G	2: 88,323,156 (GRCm38)	I183T	probably damaging	Het
Olfr1305	A	T	2: 111,873,050 (GRCm38)	D268E	possibly damaging	Het
Olfr186	G	T	16: 59,027,897 (GRCm38)	D3E	probably benign	Het
Olfr199	G	T	16: 59,215,859 (GRCm38)	F251L	probably damaging	Het
Olfr398	A	G	11: 73,984,008 (GRCm38)	F200S	probably damaging	Het
Olfr721-ps1	A	C	14: 14,407,729 (GRCm38)	Y167S	possibly damaging	Het
Olfr998	A	G	2: 85,590,938 (GRCm38)	T133A	probably benign	Het
Oxgr1	T	C	14: 120,022,364 (GRCm38)	I144V	probably benign	Het
Pax5	T	A	4: 44,570,086 (GRCm38)	T127S	probably damaging	Het
Pcsk2	T	C	2: 143,687,679 (GRCm38)		probably null	Het
Pdxk	A	G	10: 78,464,792 (GRCm38)	V19A	possibly damaging	Het
Pik3c2a	A	T	7: 116,417,825 (GRCm38)	S232R	probably damaging	Het
Ppip5k1	T	C	2: 121,340,848 (GRCm38)	D620G	possibly damaging	Het
Ppp4r4	T	A	12: 103,590,858 (GRCm38)		probably null	Het
Pqlc2	G	T	4: 139,300,001 (GRCm38)	H343Q	probably benign	Het
Psmd1	A	G	1: 86,078,712 (GRCm38)	N267D	probably damaging	Het
Pudp	A	G	18: 50,568,065 (GRCm38)	V199A	probably damaging	Het
Rasal3	T	A	17: 32,396,781 (GRCm38)	D361V	probably damaging	Het
Rbm12	T	C	2: 156,096,564 (GRCm38)	D596G	possibly damaging	Het
Rbm6	T	C	9: 107,852,903 (GRCm38)	D182G	probably damaging	Het
Rif1	T	C	2: 52,112,747 (GRCm38)	V2071A	probably damaging	Het
Rilp	C	T	11: 75,510,641 (GRCm38)	A110V	possibly damaging	Het
Rprd2	A	G	3: 95,774,333 (GRCm38)	V332A	probably benign	Het
Sbpl	T	A	17: 23,953,330 (GRCm38)	D205V	unknown	Het
Scn9a	T	C	2: 66,540,623 (GRCm38)	I538V	probably benign	Het
Serpina1d	T	C	12: 103,767,824 (GRCm38)	S74G	possibly damaging	Het
Serpina3n	T	C	12: 104,409,110 (GRCm38)	I147T	possibly damaging	Het
Serpinb8	A	G	1: 107,604,742 (GRCm38)	N188S	probably benign	Het
Sipa1l3	A	G	7: 29,377,641 (GRCm38)	V902A	probably damaging	Het
Slc25a47	T	A	12: 108,855,334 (GRCm38)	L123Q	probably damaging	Het
Slc30a2	A	T	4: 134,344,006 (GRCm38)		probably null	Het
Snx13	T	A	12: 35,098,286 (GRCm38)	D271E	probably damaging	Het
Tbc1d9b	A	G	11: 50,171,298 (GRCm38)	N1211S	probably benign	Het
Tdrd3	T	A	14: 87,472,101 (GRCm38)	I67N	probably damaging	Het
Thbs1	T	C	2: 118,114,792 (GRCm38)	V282A	probably benign	Het
Tmc8	A	G	11: 117,791,605 (GRCm38)		probably null	Het
Trim11	T	A	11: 58,988,924 (GRCm38)	F284Y	probably null	Het
Ttn	A	G	2: 76,769,603 (GRCm38)	Y19076H	probably damaging	Het
Ttn	G	T	2: 76,721,797 (GRCm38)	Y29419*	probably null	Het
Ubr4	T	C	4: 139,421,733 (GRCm38)	S448P	possibly damaging	Het
Ugt2b34	T	C	5: 86,891,473 (GRCm38)	E443G	probably damaging	Het
Usp29	A	G	7: 6,961,391 (GRCm38)	T78A	probably damaging	Het
Vmn1r227	A	G	17: 20,735,134 (GRCm38)		noncoding transcript	Het
Vmn1r85	A	T	7: 13,084,861 (GRCm38)	W119R	probably damaging	Het
Vmn2r12	A	T	5: 109,086,513 (GRCm38)	V611E	probably damaging	Het
Vmn2r97	A	T	17: 18,929,288 (GRCm38)	M313L	probably benign	Het
Zap70	T	C	1: 36,779,173 (GRCm38)	Y314H	probably damaging	Het
Zfp667	T	A	7: 6,305,685 (GRCm38)	F451I	possibly damaging	Het

Other mutations in Optn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Optn	APN	2	5,033,156 (GRCm38)	missense	possibly damaging	0.93
IGL01433:Optn	APN	2	5,027,144 (GRCm38)	missense	probably benign	0.07
IGL01480:Optn	APN	2	5,046,018 (GRCm38)	missense	probably benign	0.01
IGL01863:Optn	APN	2	5,021,487 (GRCm38)	splice site	probably benign
IGL02108:Optn	APN	2	5,031,273 (GRCm38)	missense	possibly damaging	0.91
IGL02150:Optn	APN	2	5,033,152 (GRCm38)	missense	probably damaging	0.97
IGL02623:Optn	APN	2	5,035,022 (GRCm38)	missense	probably damaging	1.00
R0119:Optn	UTSW	2	5,024,115 (GRCm38)	missense	probably damaging	1.00
R0121:Optn	UTSW	2	5,024,115 (GRCm38)	missense	probably damaging	1.00
R0330:Optn	UTSW	2	5,034,255 (GRCm38)	missense	possibly damaging	0.53
R0332:Optn	UTSW	2	5,024,115 (GRCm38)	missense	probably damaging	1.00
R0335:Optn	UTSW	2	5,024,115 (GRCm38)	missense	probably damaging	1.00
R0390:Optn	UTSW	2	5,046,195 (GRCm38)	missense	probably benign
R0437:Optn	UTSW	2	5,024,115 (GRCm38)	missense	probably damaging	1.00
R1710:Optn	UTSW	2	5,053,130 (GRCm38)	missense	possibly damaging	0.90
R2229:Optn	UTSW	2	5,024,117 (GRCm38)	missense	probably damaging	1.00
R3237:Optn	UTSW	2	5,034,203 (GRCm38)	missense	probably damaging	1.00
R3740:Optn	UTSW	2	5,034,198 (GRCm38)	missense	possibly damaging	0.51
R3741:Optn	UTSW	2	5,034,198 (GRCm38)	missense	possibly damaging	0.51
R4667:Optn	UTSW	2	5,033,139 (GRCm38)	missense	probably benign	0.20
R4965:Optn	UTSW	2	5,021,379 (GRCm38)	missense	probably benign	0.14
R5121:Optn	UTSW	2	5,046,106 (GRCm38)	missense	probably benign	0.25
R6119:Optn	UTSW	2	5,021,323 (GRCm38)	splice site	probably null
R7024:Optn	UTSW	2	5,052,837 (GRCm38)	splice site	probably null
R7167:Optn	UTSW	2	5,042,483 (GRCm38)	missense	probably benign	0.00
R7685:Optn	UTSW	2	5,054,650 (GRCm38)	missense	probably benign	0.01
R8103:Optn	UTSW	2	5,040,202 (GRCm38)	missense	probably damaging	0.97
R8267:Optn	UTSW	2	5,054,651 (GRCm38)	missense	probably benign	0.00
R8844:Optn	UTSW	2	5,027,112 (GRCm38)	critical splice donor site	probably null
R9082:Optn	UTSW	2	5,054,640 (GRCm38)	missense	probably damaging	1.00
R9141:Optn	UTSW	2	5,054,674 (GRCm38)	missense	possibly damaging	0.93
R9238:Optn	UTSW	2	5,053,140 (GRCm38)	missense	probably damaging	1.00
R9260:Optn	UTSW	2	5,040,265 (GRCm38)	missense	probably benign
R9287:Optn	UTSW	2	5,031,315 (GRCm38)	missense	probably damaging	0.98
R9426:Optn	UTSW	2	5,054,674 (GRCm38)	missense	possibly damaging	0.93
R9787:Optn	UTSW	2	5,031,339 (GRCm38)	missense	probably damaging	1.00

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