Incidental Mutation 'R2475:Mavs'
| ID |
253326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mavs
|
| Ensembl Gene |
ENSMUSG00000037523 |
| Gene Name |
mitochondrial antiviral signaling protein |
| Synonyms |
IPS-1, D430028G21Rik |
| MMRRC Submission |
040406-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2475 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
131075983-131089945 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 131082370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 85
(A85S)
|
| 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: A85S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038339
Gene: ENSMUSG00000037523
AA Change: A85S
| 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: A85S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105828
Gene: ENSMUSG00000037523
AA Change: A85S
| 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
|
| Meta Mutation Damage Score |
0.5539 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (32/32) |
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a1 |
T |
A |
19: 20,617,442 (GRCm39) |
M458K |
probably benign |
Het |
| Atic |
C |
T |
1: 71,598,428 (GRCm39) |
R64C |
probably damaging |
Het |
| Atp7b |
C |
T |
8: 22,484,792 (GRCm39) |
V1307M |
possibly damaging |
Het |
| Bbx |
C |
A |
16: 50,040,882 (GRCm39) |
R707L |
probably damaging |
Het |
| Ccdc28b |
A |
T |
4: 129,514,445 (GRCm39) |
|
probably null |
Het |
| Gm21136 |
T |
A |
7: 38,567,258 (GRCm39) |
T57S |
probably damaging |
Het |
| Gm5862 |
G |
A |
5: 26,224,490 (GRCm39) |
L160F |
probably damaging |
Het |
| Gpsm3 |
A |
G |
17: 34,809,534 (GRCm39) |
T47A |
possibly damaging |
Het |
| Grip1 |
T |
C |
10: 119,814,401 (GRCm39) |
Y311H |
probably benign |
Het |
| Inpp4b |
T |
A |
8: 82,768,607 (GRCm39) |
N705K |
probably benign |
Het |
| Lingo1 |
T |
A |
9: 56,526,910 (GRCm39) |
I560F |
probably benign |
Het |
| Man2b2 |
A |
G |
5: 36,965,219 (GRCm39) |
V958A |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,364,490 (GRCm39) |
C1305S |
probably benign |
Het |
| Or14j9 |
A |
G |
17: 37,874,602 (GRCm39) |
V200A |
probably benign |
Het |
| Phf19 |
C |
T |
2: 34,785,807 (GRCm39) |
R554Q |
probably benign |
Het |
| Pramel24 |
T |
A |
4: 143,453,395 (GRCm39) |
Y168N |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Trpm8 |
A |
G |
1: 88,282,171 (GRCm39) |
D689G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,703,094 (GRCm39) |
|
probably benign |
Het |
| Wrnip1 |
G |
A |
13: 32,990,941 (GRCm39) |
R400H |
probably benign |
Het |
|
| Other mutations in Mavs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00549:Mavs
|
APN |
2 |
131,088,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAGAAAAGCCTAGGCCACCTG -3'
(R):5'- GCTAAGTGCAGCCACACATG -3'
Sequencing Primer
(F):5'- CCACCTGGCCTAAGGAGG -3'
(R):5'- AGTGGCTCAGCTGGATCTAAATC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation