Incidental Mutation 'R3883:Mavs'
ID 308806
Institutional Source Beutler Lab
Gene Symbol Mavs
Ensembl Gene ENSMUSG00000037523
Gene Name mitochondrial antiviral signaling protein
Synonyms IPS-1, D430028G21Rik
MMRRC Submission 040796-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3883 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 131075983-131089945 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131087218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 239 (S239P)
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 benign
Transcript: ENSMUST00000041362
AA Change: S239P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038339
Gene: ENSMUSG00000037523
AA Change: S239P

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000110199
AA Change: S239P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105828
Gene: ENSMUSG00000037523
AA Change: S239P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
PDB:3J6C|A 1 52 8e-16 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132694
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (45/46)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 C T 8: 46,980,228 (GRCm39) S423L probably benign Het
Ankmy1 T G 1: 92,813,874 (GRCm39) E435A probably damaging Het
Ano5 T A 7: 51,216,052 (GRCm39) M343K probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
C3 T C 17: 57,524,173 (GRCm39) probably null Het
Cdk17 T C 10: 93,047,939 (GRCm39) probably null Het
Cntn2 A G 1: 132,456,677 (GRCm39) V123A probably damaging Het
Cracd T A 5: 77,004,421 (GRCm39) W261R unknown Het
Dchs1 A G 7: 105,411,770 (GRCm39) Y1449H probably damaging Het
Ddx42 T A 11: 106,138,518 (GRCm39) N772K probably benign Het
Dnah11 T C 12: 117,942,188 (GRCm39) probably benign Het
Edn1 T A 13: 42,455,382 (GRCm39) F4L probably benign Het
Epb41l3 C T 17: 69,581,111 (GRCm39) R552* probably null Het
Epc1 T C 18: 6,452,258 (GRCm39) D267G possibly damaging Het
Fbxo22 A T 9: 55,130,546 (GRCm39) T169S probably benign Het
Fmnl1 A G 11: 103,072,940 (GRCm39) N144D probably damaging Het
Folh1 A G 7: 86,424,864 (GRCm39) L35P possibly damaging Het
Gm10220 A C 5: 26,321,908 (GRCm39) S255A possibly damaging Het
Gm15446 G T 5: 110,088,313 (GRCm39) V9L probably damaging Het
Hipk2 A G 6: 38,676,200 (GRCm39) L1011P probably damaging Het
Kif4-ps G T 12: 101,112,473 (GRCm39) V201L probably damaging Het
Klk1b16 T C 7: 43,788,887 (GRCm39) V40A possibly damaging Het
Lgsn C A 1: 31,215,540 (GRCm39) D3E probably benign Het
Mrtfb T A 16: 13,219,322 (GRCm39) V667D probably damaging Het
Mtrf1 A G 14: 79,656,707 (GRCm39) Y403C probably damaging Het
Mycbp2 A C 14: 103,532,686 (GRCm39) L390V probably damaging Het
Neto2 A G 8: 86,389,894 (GRCm39) S190P probably damaging Het
Ngly1 A G 14: 16,270,574 (GRCm38) I195V probably damaging Het
Or10d4c A G 9: 39,558,420 (GRCm39) I133V probably benign Het
Or13p5 T C 4: 118,591,882 (GRCm39) I52T probably benign Het
Pde4dip T C 3: 97,620,504 (GRCm39) K1632E probably damaging Het
Pigk T C 3: 152,419,832 (GRCm39) S21P probably benign Het
Rabggtb A G 3: 153,616,417 (GRCm39) F82L probably damaging Het
Reep6 G A 10: 80,171,369 (GRCm39) R415Q probably benign Het
Serpinb13 T C 1: 106,926,302 (GRCm39) V159A probably benign Het
Slc5a8 T A 10: 88,738,325 (GRCm39) M196K possibly damaging Het
Sprr1a G A 3: 92,391,827 (GRCm39) P58L probably damaging Het
Taf1a A T 1: 183,172,288 (GRCm39) T10S possibly damaging Het
Tap1 T A 17: 34,412,232 (GRCm39) V479E probably damaging Het
Trpm4 C T 7: 44,971,422 (GRCm39) probably null Het
Ush2a T C 1: 187,995,579 (GRCm39) Y117H probably benign Het
Vmn2r58 A T 7: 41,513,914 (GRCm39) L243* probably null Het
Zbtb32 A G 7: 30,290,569 (GRCm39) I242T probably benign Het
Zbtb7a T C 10: 80,983,859 (GRCm39) C434R probably damaging Het
Other mutations in Mavs
AlleleSourceChrCoordTypePredicted EffectPPH 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
R2475:Mavs UTSW 2 131,082,370 (GRCm39) missense probably damaging 1.00
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'- GGGACCATGTGATCAAGGAC -3'
(R):5'- GACTTTGAACTGAGGGGCAAC -3'

Sequencing Primer
(F):5'- CATGTGATCAAGGACATGGGGAC -3'
(R):5'- GACATGGTTTTTACTGGGACCAATC -3'
Posted On 2015-04-17