Incidental Mutation 'IGL00549:Mavs'
| ID |
7025 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mavs
|
| Ensembl Gene |
ENSMUSG00000037523 |
| Gene Name |
mitochondrial antiviral signaling protein |
| Synonyms |
IPS-1, D430028G21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00549
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
131075983-131089945 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131088636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 480
(L480P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041362]
[ENSMUST00000110199]
[ENSMUST00000130597]
|
| AlphaFold |
Q8VCF0 |
| PDB Structure |
Crystal structure of TRAF3/Cardif [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041362
AA Change: L480P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038339
Gene: ENSMUSG00000037523
AA Change: L480P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3J6C|A
|
1 |
93 |
6e-41 |
PDB |
|
PDB:4GHU|B
|
138 |
158 |
6e-6 |
PDB |
|
low complexity region
|
244 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
296 |
N/A |
INTRINSIC |
|
transmembrane domain
|
479 |
496 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110199
AA Change: L480P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105828
Gene: ENSMUSG00000037523
AA Change: L480P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CARD_2
|
4 |
92 |
1.9e-22 |
PFAM |
|
PDB:4GHU|B
|
138 |
158 |
6e-6 |
PDB |
|
low complexity region
|
244 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
296 |
N/A |
INTRINSIC |
|
transmembrane domain
|
479 |
496 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130597
|
| SMART Domains |
Protein: ENSMUSP00000138401
Gene: ENSMUSG00000037523
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3J6C|A
|
1 |
52 |
8e-16 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132694
|
| 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 an intermediary protein necessary in the virus-triggered beta interferon signaling pathways. It is required for activation of transcription factors which regulate expression of beta interferon and contributes to antiviral immunity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous and heterozygous mice for mutations display defective innate immunity in response to viral infections. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(11) : Targeted(5) Gene trapped(6)
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd33 |
C |
T |
15: 101,014,840 (GRCm39) |
L76F |
probably damaging |
Het |
| Ccdc149 |
C |
T |
5: 52,533,664 (GRCm39) |
V501I |
probably benign |
Het |
| Efhc1 |
C |
T |
1: 21,049,705 (GRCm39) |
Q522* |
probably null |
Het |
| Exoc8 |
A |
T |
8: 125,623,611 (GRCm39) |
I252N |
probably damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,759,418 (GRCm39) |
M408K |
probably damaging |
Het |
| Igkv4-70 |
A |
G |
6: 69,245,075 (GRCm39) |
S49P |
probably damaging |
Het |
| Itga1 |
C |
T |
13: 115,185,832 (GRCm39) |
E57K |
possibly damaging |
Het |
| Orc2 |
T |
A |
1: 58,520,201 (GRCm39) |
Q160L |
probably benign |
Het |
| Phldb1 |
A |
G |
9: 44,622,443 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,791,735 (GRCm39) |
S1141T |
probably benign |
Het |
| Slc8a1 |
A |
G |
17: 81,956,600 (GRCm39) |
I146T |
probably damaging |
Het |
| Specc1l |
G |
A |
10: 75,082,055 (GRCm39) |
V501I |
probably benign |
Het |
| Taf2 |
T |
C |
15: 54,894,511 (GRCm39) |
T937A |
probably benign |
Het |
| Vps9d1 |
C |
A |
8: 123,971,937 (GRCm39) |
R556L |
probably damaging |
Het |
|
| Other mutations in Mavs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01520:Mavs
|
APN |
2 |
131,087,263 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01909:Mavs
|
APN |
2 |
131,087,441 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01941:Mavs
|
APN |
2 |
131,088,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Mavs
|
UTSW |
2 |
131,083,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Mavs
|
UTSW |
2 |
131,083,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Mavs
|
UTSW |
2 |
131,080,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0751:Mavs
|
UTSW |
2 |
131,088,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2051:Mavs
|
UTSW |
2 |
131,082,370 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2061:Mavs
|
UTSW |
2 |
131,082,226 (GRCm39) |
splice site |
probably benign |
|
|
R2475:Mavs
|
UTSW |
2 |
131,082,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3883:Mavs
|
UTSW |
2 |
131,087,218 (GRCm39) |
missense |
probably benign |
|
|
R4152:Mavs
|
UTSW |
2 |
131,088,528 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4580:Mavs
|
UTSW |
2 |
131,082,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4619:Mavs
|
UTSW |
2 |
131,082,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4779:Mavs
|
UTSW |
2 |
131,082,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Mavs
|
UTSW |
2 |
131,088,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6092:Mavs
|
UTSW |
2 |
131,087,518 (GRCm39) |
nonsense |
probably null |
|
|
R6211:Mavs
|
UTSW |
2 |
131,082,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7024:Mavs
|
UTSW |
2 |
131,085,051 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7568:Mavs
|
UTSW |
2 |
131,087,395 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8121:Mavs
|
UTSW |
2 |
131,087,395 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8306:Mavs
|
UTSW |
2 |
131,088,470 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8877:Mavs
|
UTSW |
2 |
131,087,489 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9020:Mavs
|
UTSW |
2 |
131,088,594 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9117:Mavs
|
UTSW |
2 |
131,087,245 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9404:Mavs
|
UTSW |
2 |
131,083,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Mavs
|
UTSW |
2 |
131,082,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation