Mutagenetix > Incidental Mutation

Incidental Mutation 'R7024:Optn'

568368

Institutional Source

Beutler Lab

Gene Symbol

Optn

Ensembl Gene

ENSMUSG00000026672

Gene Name

optineurin

Synonyms

TFIIIA-INTP, 4930441O07Rik

MMRRC Submission

045125-MU

Accession Numbers

Essential gene?

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

Stock #

R7024 (G1)

Quality Score

152.008

Status

Validated

Chromosome

Chromosomal Location

5025453-5068862 bp(-) (GRCm39)

Type of Mutation

splice site (151 bp from exon)

DNA Base Change (assembly)

T to C at 5057648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110648 (fasta)

Gene Model

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

AlphaFold

Q8K3K8

Predicted Effect

probably null
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 null
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (61/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	G	16: 88,424,108 (GRCm39)	S128P	probably damaging	Het
Abcc1	G	C	16: 14,231,247 (GRCm39)		probably null	Het
Atg2a	G	A	19: 6,300,249 (GRCm39)	G686S	possibly damaging	Het
Atrnl1	A	T	19: 57,626,882 (GRCm39)		probably null	Het
Brd4	T	C	17: 32,440,884 (GRCm39)		probably benign	Het
Camsap3	A	G	8: 3,658,242 (GRCm39)	E688G	probably damaging	Het
Cc2d2a	T	A	5: 43,891,271 (GRCm39)	S1402R	probably benign	Het
Ccnb1	A	G	13: 100,922,888 (GRCm39)		probably null	Het
Cdc42bpb	G	A	12: 111,292,519 (GRCm39)	H339Y	probably damaging	Het
Ciart	T	A	3: 95,786,392 (GRCm39)	T94S	probably benign	Het
Col6a5	T	A	9: 105,789,674 (GRCm39)	K1540*	probably null	Het
Csmd3	A	T	15: 47,574,387 (GRCm39)	V1969E	probably damaging	Het
Dgka	T	G	10: 128,556,356 (GRCm39)	N710T	probably damaging	Het
Dock6	A	G	9: 21,731,666 (GRCm39)	V1212A	probably benign	Het
Dync2i2	A	G	2: 29,928,278 (GRCm39)	V116A	possibly damaging	Het
En1	C	T	1: 120,531,051 (GRCm39)	P97L	unknown	Het
Esd	T	A	14: 74,982,102 (GRCm39)	F172L	probably damaging	Het
Gfer	C	A	17: 24,914,942 (GRCm39)	D34Y	probably damaging	Het
Gm2832	G	A	14: 41,001,696 (GRCm39)	M68I		Het
Hmgcr	A	G	13: 96,795,418 (GRCm39)	S384P	probably benign	Het
Hsp90aa1	T	C	12: 110,660,546 (GRCm39)	T299A	possibly damaging	Het
Igsf10	A	G	3: 59,239,122 (GRCm39)	M353T	probably benign	Het
Ino80b	T	C	6: 83,099,306 (GRCm39)	T211A	probably benign	Het
Lamb2	C	A	9: 108,366,687 (GRCm39)	T1607K	probably benign	Het
Lhfpl5	A	G	17: 28,801,957 (GRCm39)	E218G	probably benign	Het
Lpo	C	A	11: 87,707,269 (GRCm39)	C248F	probably damaging	Het
Lrrc3	C	T	10: 77,736,825 (GRCm39)	D204N	probably damaging	Het
Mavs	C	A	2: 131,085,051 (GRCm39)	L160I	probably benign	Het
Morn4	C	T	19: 42,066,483 (GRCm39)	D35N	possibly damaging	Het
Mroh8	G	A	2: 157,063,183 (GRCm39)	H813Y	probably benign	Het
Myf6	T	C	10: 107,330,390 (GRCm39)	E59G	probably damaging	Het
Nhsl3	T	A	4: 129,119,201 (GRCm39)	E173V	probably null	Het
Nlrp10	T	A	7: 108,524,405 (GRCm39)	E358D	possibly damaging	Het
Odad2	A	C	18: 7,211,593 (GRCm39)	D760E	probably benign	Het
Or12e8	A	G	2: 87,188,066 (GRCm39)	T93A	probably benign	Het
Or13a19	T	C	7: 139,902,759 (GRCm39)	I49T	possibly damaging	Het
Or1e1d-ps1	T	A	11: 73,819,332 (GRCm39)	L94*	probably null	Het
Or1o1	T	C	17: 37,717,095 (GRCm39)	F219L	probably benign	Het
Or5g9	T	A	2: 85,551,952 (GRCm39)	F68I	probably damaging	Het
Or7g28	T	C	9: 19,272,579 (GRCm39)	E24G	possibly damaging	Het
Plxna4	T	A	6: 32,169,204 (GRCm39)	H1331L	probably damaging	Het
Poli	A	T	18: 70,649,920 (GRCm39)	M357K	possibly damaging	Het
Psd4	T	G	2: 24,284,555 (GRCm39)	C140G	possibly damaging	Het
Rab3gap1	T	A	1: 127,818,835 (GRCm39)		probably null	Het
Rasa3	T	C	8: 13,681,826 (GRCm39)	N41S	probably benign	Het
Rps6kc1	A	G	1: 190,532,407 (GRCm39)	S532P	probably benign	Het
S100a3	T	A	3: 90,509,747 (GRCm39)		probably null	Het
Sfrp5	T	C	19: 42,190,204 (GRCm39)	K83E	possibly damaging	Het
Slco1a4	T	C	6: 141,780,434 (GRCm39)	I119V	probably benign	Het
Snx15	T	A	19: 6,170,626 (GRCm39)	Q271L	probably damaging	Het
Sorcs2	C	A	5: 36,178,605 (GRCm39)	S1128I	probably damaging	Het
Tbc1d7	A	T	13: 43,308,211 (GRCm39)	F85I	probably damaging	Het
Thoc7	A	G	14: 13,953,528 (GRCm38)	Y46H	probably damaging	Het
Top1mt	T	A	15: 75,539,297 (GRCm39)	Y366F	probably damaging	Het
Trpv2	C	A	11: 62,475,287 (GRCm39)	S233R	probably benign	Het
Vav1	C	A	17: 57,586,268 (GRCm39)	T24N	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdfy4	G	T	14: 32,686,583 (GRCm39)		probably null	Het
Wdr3	A	G	3: 100,062,313 (GRCm39)	S201P	probably benign	Het
Wfs1	C	T	5: 37,124,294 (GRCm39)	D866N	probably damaging	Het
Wnk1	A	T	6: 119,942,687 (GRCm39)		probably benign	Het
Xpot	G	T	10: 121,438,304 (GRCm39)	Q762K	probably benign	Het
Zfp287	A	T	11: 62,605,764 (GRCm39)	L370H	possibly damaging	Het

Other mutations in Optn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Optn	APN	2	5,037,967 (GRCm39)	missense	possibly damaging	0.93
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGTCTGACTGTCACTACATC -3'
(R):5'- TAAGGCCCTGACTCATGAAAATG -3'

Sequencing Primer
(F):5'- GTCTGACTGTCACTACATCCTAATC -3'
(R):5'- CTGAAGGAAGAGCTTGGAAAATTC -3'

Posted On

2019-07-10