Incidental Mutation 'IGL01480:Optn'
ID88575
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: 0.192) question?
Stock #IGL01480
Quality Score
Status
Chromosome2
Chromosomal Location5020642-5064051 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 5046018 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 184 (S184L)
Ref Sequence ENSEMBL: ENSMUSP00000110648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027986] [ENSMUST00000114996]
Predicted Effect probably benign
Transcript: ENSMUST00000027986
AA Change: S184L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000027986
Gene: ENSMUSG00000026672
AA Change: S184L

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 benign
Transcript: ENSMUST00000114996
AA Change: S184L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000110648
Gene: ENSMUSG00000026672
AA Change: S184L

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: ENSMUST00000143809
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 T A 12: 88,456,865 C379* probably null Het
Ankrd10 A G 8: 11,635,592 V9A probably benign Het
Ankrd13a A T 5: 114,800,818 probably benign Het
Bbs1 T C 19: 4,894,393 K403E probably damaging Het
Cd200r2 A G 16: 44,909,266 I95V probably null Het
Cyba T C 8: 122,424,945 E171G probably benign Het
Dnah2 T A 11: 69,458,371 M2480L possibly damaging Het
Fxyd7 A T 7: 31,047,374 Y20* probably null Het
Il22ra1 T C 4: 135,744,801 V216A probably benign Het
Mapk10 G A 5: 102,926,152 probably benign Het
Mgat5b C A 11: 116,978,452 T607K probably benign Het
Nov A G 15: 54,752,291 Y284C probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr406 A T 11: 74,269,601 I71L possibly damaging Het
Olfr8 T C 10: 78,956,144 probably benign Het
Olfr975 G A 9: 39,949,988 A261V probably benign Het
Plxna1 A G 6: 89,344,096 L462P possibly damaging Het
Prkca A G 11: 107,986,289 F339L possibly damaging Het
Prkca C T 11: 108,192,201 V73M probably damaging Het
Ptch2 T C 4: 117,114,082 V1062A probably damaging Het
Serpina11 T A 12: 103,982,851 K354* probably null Het
Sf1 T C 19: 6,372,022 probably benign Het
Stam2 A G 2: 52,716,439 S112P probably benign Het
Tlr5 G A 1: 182,973,499 E123K probably benign Het
Tpp1 T C 7: 105,749,053 E301G probably damaging Het
Vmn2r58 T A 7: 41,864,692 I176F probably benign 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
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
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
Posted On2013-11-18