Incidental Mutation 'R0121:Optn'
| ID |
60568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Optn
|
| Ensembl Gene |
ENSMUSG00000026672 |
| Gene Name |
optineurin |
| Synonyms |
TFIIIA-INTP, 4930441O07Rik |
| MMRRC Submission |
038406-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
R0121 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
5025453-5068862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 5028926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 526
(G526R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027986]
[ENSMUST00000114996]
|
| AlphaFold |
Q8K3K8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027986
AA Change: G526R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027986
Gene: ENSMUSG00000026672
AA Change: G526R
| 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 damaging
Transcript: ENSMUST00000114996
AA Change: G526R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110648
Gene: ENSMUSG00000026672
AA Change: G526R
| 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: ENSMUST00000125203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145501
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 89.8%
|
| Validation Efficiency |
100% (63/63) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,298,945 (GRCm39) |
|
probably null |
Het |
| Adgra3 |
T |
C |
5: 50,183,128 (GRCm39) |
|
probably benign |
Het |
| Anxa7 |
A |
T |
14: 20,510,227 (GRCm39) |
L386M |
probably damaging |
Het |
| Ap2b1 |
A |
G |
11: 83,212,793 (GRCm39) |
M58V |
possibly damaging |
Het |
| Arfip2 |
A |
G |
7: 105,285,578 (GRCm39) |
L224P |
probably damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,750,251 (GRCm39) |
N373S |
possibly damaging |
Het |
| Asph |
T |
C |
4: 9,635,918 (GRCm39) |
D73G |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,116,909 (GRCm39) |
E236V |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,057,116 (GRCm39) |
S170P |
probably damaging |
Het |
| Atp4a |
C |
G |
7: 30,419,526 (GRCm39) |
R659G |
probably benign |
Het |
| B4galnt3 |
C |
T |
6: 120,191,999 (GRCm39) |
R578H |
probably benign |
Het |
| Ccdc178 |
C |
A |
18: 21,978,081 (GRCm39) |
|
probably null |
Het |
| Ccnh |
T |
A |
13: 85,354,312 (GRCm39) |
M252K |
probably damaging |
Het |
| Clec4b2 |
A |
G |
6: 123,181,131 (GRCm39) |
D172G |
probably benign |
Het |
| Col1a1 |
A |
G |
11: 94,828,895 (GRCm39) |
E79G |
unknown |
Het |
| Csf3r |
A |
G |
4: 125,923,642 (GRCm39) |
N51D |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,974,299 (GRCm39) |
L1489F |
probably damaging |
Het |
| Cyp2b13 |
G |
A |
7: 25,786,010 (GRCm39) |
C309Y |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,001,327 (GRCm39) |
|
probably benign |
Het |
| Edn1 |
A |
G |
13: 42,458,741 (GRCm39) |
T135A |
probably benign |
Het |
| Ephb2 |
A |
G |
4: 136,498,368 (GRCm39) |
I237T |
probably damaging |
Het |
| Fam111a |
T |
A |
19: 12,561,444 (GRCm39) |
F12L |
probably benign |
Het |
| Foxi2 |
C |
A |
7: 135,013,640 (GRCm39) |
A290E |
probably benign |
Het |
| Gabra6 |
A |
G |
11: 42,205,798 (GRCm39) |
S353P |
probably benign |
Het |
| Gm4847 |
T |
C |
1: 166,469,857 (GRCm39) |
D72G |
probably damaging |
Het |
| Grhl3 |
A |
G |
4: 135,279,860 (GRCm39) |
I398T |
probably damaging |
Het |
| Gtdc1 |
T |
C |
2: 44,455,550 (GRCm39) |
|
probably benign |
Het |
| Kel |
A |
C |
6: 41,678,998 (GRCm39) |
|
probably benign |
Het |
| L3mbtl3 |
C |
T |
10: 26,189,768 (GRCm39) |
D499N |
unknown |
Het |
| Lama1 |
T |
A |
17: 68,105,508 (GRCm39) |
|
probably benign |
Het |
| Mamdc2 |
T |
A |
19: 23,288,223 (GRCm39) |
E605V |
probably benign |
Het |
| Nolc1 |
G |
A |
19: 46,069,817 (GRCm39) |
|
probably benign |
Het |
| Nudt12 |
A |
T |
17: 59,314,634 (GRCm39) |
S317T |
possibly damaging |
Het |
| Or4k35 |
A |
T |
2: 111,100,659 (GRCm39) |
C18S |
probably benign |
Het |
| Or5w20 |
A |
G |
2: 87,727,434 (GRCm39) |
K297R |
possibly damaging |
Het |
| Or8g23 |
T |
A |
9: 38,971,056 (GRCm39) |
K302M |
probably damaging |
Het |
| Or8k38 |
A |
G |
2: 86,488,163 (GRCm39) |
V213A |
probably benign |
Het |
| Pbld1 |
C |
T |
10: 62,907,282 (GRCm39) |
|
probably benign |
Het |
| Prl8a9 |
T |
G |
13: 27,744,589 (GRCm39) |
N84T |
probably benign |
Het |
| Psph |
T |
A |
5: 129,868,633 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
A |
G |
7: 110,088,426 (GRCm39) |
|
probably null |
Het |
| Senp6 |
A |
G |
9: 80,023,952 (GRCm39) |
D405G |
probably benign |
Het |
| Serpinb1a |
T |
A |
13: 33,032,754 (GRCm39) |
|
probably benign |
Het |
| Slc2a9 |
T |
C |
5: 38,556,086 (GRCm39) |
I287V |
probably benign |
Het |
| Sptbn2 |
T |
C |
19: 4,795,321 (GRCm39) |
F1593S |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,695,706 (GRCm39) |
T33A |
probably benign |
Het |
| Tdrd3 |
A |
T |
14: 87,776,915 (GRCm39) |
Q727L |
probably damaging |
Het |
| Tecpr1 |
C |
T |
5: 144,147,017 (GRCm39) |
E450K |
probably benign |
Het |
| Tenm3 |
G |
A |
8: 48,795,694 (GRCm39) |
T532I |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,612,630 (GRCm39) |
Q396L |
probably benign |
Het |
| Tmtc3 |
A |
G |
10: 100,294,770 (GRCm39) |
|
probably benign |
Het |
| Twnk |
T |
C |
19: 44,997,704 (GRCm39) |
|
probably benign |
Het |
| Ubac1 |
A |
G |
2: 25,898,871 (GRCm39) |
|
probably null |
Het |
| Ubn2 |
T |
C |
6: 38,429,793 (GRCm39) |
|
probably benign |
Het |
| Zfp944 |
T |
A |
17: 22,558,249 (GRCm39) |
T333S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGATTCAGGTCAGCTAACAGACGC -3'
(R):5'- GGGTCAGTTTTCTTATGAAGGTCAGCC -3'
Sequencing Primer
(F):5'- TACTACCTGGCTGCGAGAG -3'
(R):5'- CATGTGGTTTTGACTTGTTTCCC -3'
|
| Posted On |
2013-07-24 |
Incidental Mutation