Incidental Mutation 'IGL02623:Optn'
ID300953
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Optn
Ensembl Gene ENSMUSG00000026672
Gene Nameoptineurin
SynonymsTFIIIA-INTP, 4930441O07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.188) question?
Stock #IGL02623
Quality Score
Status
Chromosome2
Chromosomal Location5020642-5064051 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5035022 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 318 (E318G)
Ref Sequence ENSEMBL: ENSMUSP00000110648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027986] [ENSMUST00000114996]
Predicted Effect probably damaging
Transcript: ENSMUST00000027986
AA Change: E318G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027986
Gene: ENSMUSG00000026672
AA Change: E318G

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000114996
AA Change: E318G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110648
Gene: ENSMUSG00000026672
AA Change: E318G

DomainStartEndE-ValueType
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 91,056,144 I35F probably benign Het
Acad10 A G 5: 121,629,930 V819A possibly damaging Het
Adgrd1 A T 5: 129,132,745 N279Y probably damaging Het
Aplp2 C A 9: 31,178,083 probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
B3gnt5 A G 16: 19,769,610 D193G probably damaging Het
Cacng1 A G 11: 107,704,319 F144S probably damaging Het
Dnm3 T A 1: 162,355,432 T105S probably damaging Het
Efcab6 T A 15: 83,879,448 I1228F probably damaging Het
Erc2 A G 14: 27,776,980 D271G probably damaging Het
Fat3 T C 9: 15,997,137 Y2523C probably damaging Het
Fhl4 A G 10: 85,098,171 F249L probably damaging Het
Gm17782 T C 17: 36,162,066 probably benign Het
Gm4787 A G 12: 81,378,728 Y219H probably damaging Het
Hk1 A G 10: 62,292,359 L328P probably benign Het
Hspa12a T A 19: 58,809,551 Y245F probably benign Het
Kbtbd12 T C 6: 88,618,389 Y153C probably damaging Het
Kcnd2 A T 6: 21,726,195 R562S probably benign Het
Lct T C 1: 128,308,251 S340G probably benign Het
Maats1 T A 16: 38,333,778 D135V possibly damaging Het
Mettl25 C A 10: 105,826,324 G262W probably damaging Het
Mindy3 G A 2: 12,364,483 Q142* probably null Het
Olfr1045 A T 2: 86,198,019 H244Q probably damaging Het
Pan2 T C 10: 128,312,899 S443P probably benign Het
Parva A G 7: 112,576,439 D259G probably damaging Het
Pkhd1l1 T A 15: 44,584,873 L3816Q probably damaging Het
Polq T C 16: 37,060,375 F967S probably benign Het
Prdm16 T C 4: 154,340,877 N817S probably damaging Het
Ptprt C A 2: 161,607,452 probably benign Het
Rbbp8nl T A 2: 180,281,443 S154C probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Slit1 T C 19: 41,651,683 I169V probably damaging Het
Smyd4 G T 11: 75,390,064 probably benign Het
Tial1 A G 7: 128,443,883 Y326H probably benign Het
Tmem198b A G 10: 128,802,451 L81P probably damaging Het
Tmem94 T A 11: 115,796,401 C1115* probably null Het
Tns3 A G 11: 8,437,141 S1349P probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Zfp106 A T 2: 120,545,914 probably null Het
Zfp119b T C 17: 55,939,793 E99G probably damaging Het
Zfp462 T A 4: 55,012,986 C503S probably damaging Het
Zfyve19 G A 2: 119,212,015 probably null Het
Zxdc G T 6: 90,382,370 K661N probably damaging Het
Other mutations in Optn
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 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
Posted On2015-04-16