Incidental Mutation 'IGL01480:Optn'
| ID |
88575 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Optn
|
| Ensembl Gene |
ENSMUSG00000026672 |
| Gene Name |
optineurin |
| Synonyms |
TFIIIA-INTP, 4930441O07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
IGL01480
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
5025453-5068862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 5050829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q8K3K8 |
| 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
| 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: S184L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000110648
Gene: ENSMUSG00000026672
AA Change: S184L
| 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
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
T |
A |
12: 88,423,635 (GRCm39) |
C379* |
probably null |
Het |
| Ankrd10 |
A |
G |
8: 11,685,592 (GRCm39) |
V9A |
probably benign |
Het |
| Ankrd13a |
A |
T |
5: 114,938,879 (GRCm39) |
|
probably benign |
Het |
| Bbs1 |
T |
C |
19: 4,944,421 (GRCm39) |
K403E |
probably damaging |
Het |
| Ccn3 |
A |
G |
15: 54,615,687 (GRCm39) |
Y284C |
probably damaging |
Het |
| Cd200r2 |
A |
G |
16: 44,729,629 (GRCm39) |
I95V |
probably null |
Het |
| Cyba |
T |
C |
8: 123,151,684 (GRCm39) |
E171G |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,349,197 (GRCm39) |
M2480L |
possibly damaging |
Het |
| Fxyd7 |
A |
T |
7: 30,746,799 (GRCm39) |
Y20* |
probably null |
Het |
| Il22ra1 |
T |
C |
4: 135,472,112 (GRCm39) |
V216A |
probably benign |
Het |
| Mapk10 |
G |
A |
5: 103,074,018 (GRCm39) |
|
probably benign |
Het |
| Mgat5b |
C |
A |
11: 116,869,278 (GRCm39) |
T607K |
probably benign |
Het |
| Or10d5 |
G |
A |
9: 39,861,284 (GRCm39) |
A261V |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or1p1c |
A |
T |
11: 74,160,427 (GRCm39) |
I71L |
possibly damaging |
Het |
| Or7a42 |
T |
C |
10: 78,791,978 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,321,078 (GRCm39) |
L462P |
possibly damaging |
Het |
| Prkca |
C |
T |
11: 108,083,027 (GRCm39) |
V73M |
probably damaging |
Het |
| Prkca |
A |
G |
11: 107,877,115 (GRCm39) |
F339L |
possibly damaging |
Het |
| Ptch2 |
T |
C |
4: 116,971,279 (GRCm39) |
V1062A |
probably damaging |
Het |
| Serpina11 |
T |
A |
12: 103,949,110 (GRCm39) |
K354* |
probably null |
Het |
| Sf1 |
T |
C |
19: 6,422,052 (GRCm39) |
|
probably benign |
Het |
| Stam2 |
A |
G |
2: 52,606,451 (GRCm39) |
S112P |
probably benign |
Het |
| Tlr5 |
G |
A |
1: 182,801,064 (GRCm39) |
E123K |
probably benign |
Het |
| Tpp1 |
T |
C |
7: 105,398,260 (GRCm39) |
E301G |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,116 (GRCm39) |
I176F |
probably benign |
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 |
|
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 |
|
|
R7024:Optn
|
UTSW |
2 |
5,057,648 (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 |
|
| Posted On |
2013-11-18 |
Incidental Mutation