Incidental Mutation 'R8844:Optn'
| ID |
674575 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Optn
|
| Ensembl Gene |
ENSMUSG00000026672 |
| Gene Name |
optineurin |
| Synonyms |
TFIIIA-INTP, 4930441O07Rik |
| MMRRC Submission |
068733-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R8844 (G1)
|
| Quality Score |
106.008 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
5025453-5068862 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 5031923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027986
(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 benign
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: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
A |
T |
4: 122,595,011 (GRCm39) |
H89L |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,984,254 (GRCm39) |
V1846A |
probably damaging |
Het |
| Arhgap9 |
A |
T |
10: 127,161,015 (GRCm39) |
T181S |
probably benign |
Het |
| Bmp10 |
A |
G |
6: 87,410,681 (GRCm39) |
Y158C |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,315,599 (GRCm39) |
C8R |
possibly damaging |
Het |
| Cntln |
A |
G |
4: 84,892,234 (GRCm39) |
H373R |
probably damaging |
Het |
| Cpn2 |
A |
G |
16: 30,078,115 (GRCm39) |
S529P |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,604,590 (GRCm39) |
N1051S |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 48,536,815 (GRCm39) |
T129M |
probably damaging |
Het |
| F12 |
T |
C |
13: 55,568,198 (GRCm39) |
H432R |
probably damaging |
Het |
| Foxm1 |
T |
C |
6: 128,350,439 (GRCm39) |
F595S |
probably damaging |
Het |
| Foxred2 |
A |
T |
15: 77,832,677 (GRCm39) |
I410N |
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,337,154 (GRCm39) |
F238I |
possibly damaging |
Het |
| Galnt3 |
A |
G |
2: 65,915,636 (GRCm39) |
V575A |
probably benign |
Het |
| Gpr149 |
T |
A |
3: 62,502,572 (GRCm39) |
Y428F |
probably benign |
Het |
| Gtf2ird1 |
A |
T |
5: 134,389,879 (GRCm39) |
Y970* |
probably null |
Het |
| Hint2 |
G |
C |
4: 43,654,343 (GRCm39) |
Q157E |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,235,006 (GRCm39) |
T385A |
|
Het |
| Kcnc4 |
G |
A |
3: 107,355,396 (GRCm39) |
R351C |
probably damaging |
Het |
| Kif7 |
A |
G |
7: 79,357,280 (GRCm39) |
L642S |
possibly damaging |
Het |
| Lilra5 |
T |
A |
7: 4,241,663 (GRCm39) |
V154D |
probably damaging |
Het |
| Morc2b |
A |
G |
17: 33,354,742 (GRCm39) |
L1010P |
probably damaging |
Het |
| Mphosph10 |
C |
A |
7: 64,027,087 (GRCm39) |
K575N |
probably damaging |
Het |
| Mup7 |
C |
A |
4: 60,067,537 (GRCm39) |
E193* |
probably null |
Het |
| Nbea |
T |
C |
3: 55,998,415 (GRCm39) |
T131A |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,006,060 (GRCm39) |
I248T |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,153,920 (GRCm39) |
I296F |
possibly damaging |
Het |
| Odam |
A |
G |
5: 88,037,322 (GRCm39) |
E172G |
probably damaging |
Het |
| Or5ac16 |
G |
C |
16: 59,021,929 (GRCm39) |
P287A |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,112,336 (GRCm39) |
Y484N |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,480,206 (GRCm39) |
N1308D |
probably damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,618,801 (GRCm39) |
E197V |
probably benign |
Het |
| Pcolce2 |
G |
A |
9: 95,563,625 (GRCm39) |
D204N |
possibly damaging |
Het |
| Plxna4 |
T |
G |
6: 32,174,026 (GRCm39) |
T1190P |
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,380,976 (GRCm39) |
F349Y |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,500,950 (GRCm39) |
Y136C |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,446,791 (GRCm39) |
N1411K |
probably damaging |
Het |
| Scube1 |
A |
G |
15: 83,561,164 (GRCm39) |
C143R |
probably damaging |
Het |
| Stau1 |
T |
C |
2: 166,793,266 (GRCm39) |
T290A |
probably benign |
Het |
| Sycp1 |
T |
A |
3: 102,772,421 (GRCm39) |
K629I |
probably damaging |
Het |
| Taf1d |
A |
G |
9: 15,221,324 (GRCm39) |
E210G |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,153,117 (GRCm39) |
E204G |
possibly damaging |
Het |
| Tmem229a |
T |
C |
6: 24,955,187 (GRCm39) |
D189G |
probably benign |
Het |
| Tmem269 |
G |
A |
4: 119,062,876 (GRCm39) |
P254S |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,563,469 (GRCm39) |
F767I |
probably damaging |
Het |
| Ube2q2 |
C |
A |
9: 55,102,757 (GRCm39) |
A331D |
|
Het |
| Usp1 |
A |
G |
4: 98,823,017 (GRCm39) |
Y777C |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,964,891 (GRCm39) |
N245D |
probably benign |
Het |
| Vmn1r212 |
T |
A |
13: 23,067,526 (GRCm39) |
Q269L |
probably benign |
Het |
| Wfdc11 |
T |
A |
2: 164,507,373 (GRCm39) |
Y28F |
probably benign |
Het |
| Wwp2 |
A |
T |
8: 108,210,048 (GRCm39) |
D142V |
probably 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 |
|
|
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 |
|
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'- CACCCATAAGTCATCAAAGCTGTT -3'
(R):5'- CGGTCATCTCCATGGTAACCT -3'
Sequencing Primer
(F):5'- AGCAATTTCTAGACCAGTCTGGG -3'
(R):5'- TAACTTTTCCCCCTAACAGATGGAGG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation