Incidental Mutation 'R0044:Mavs'
ID15715
Institutional Source Beutler Lab
Gene Symbol Mavs
Ensembl Gene ENSMUSG00000037523
Gene Namemitochondrial antiviral signaling protein
SynonymsIPS-1, D430028G21Rik
MMRRC Submission 038338-MU
Accession Numbers

MGI: 2444773

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0044 (G1)
Quality Score
Status Validated
Chromosome2
Chromosomal Location131234063-131248025 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 131242024 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Asparagine at position 147 (T147N)
Ref Sequence ENSEMBL: ENSMUSP00000105828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041362] [ENSMUST00000110199] [ENSMUST00000130597]
PDB Structure
Crystal structure of TRAF3/Cardif [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000041362
AA Change: T147N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038339
Gene: ENSMUSG00000037523
AA Change: T147N

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 damaging
Transcript: ENSMUST00000110199
AA Change: T147N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105828
Gene: ENSMUSG00000037523
AA Change: T147N

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 0.232 question?
Coding Region Coverage
  • 1x: 79.0%
  • 3x: 68.4%
  • 10x: 42.5%
  • 20x: 22.8%
Validation Efficiency 98% (58/59)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik T A 17: 48,146,186 probably benign Het
Adcy2 A G 13: 68,727,899 S495P possibly damaging Het
Asxl1 C T 2: 153,400,209 T893I probably benign Het
Bpifb2 C T 2: 153,882,679 probably benign Het
Cdk5rap2 A T 4: 70,360,901 L190H probably damaging Het
Cpsf1 A G 15: 76,599,553 V830A probably benign Het
Degs2 T C 12: 108,692,154 N189D probably damaging Het
Dido1 C T 2: 180,661,819 A1431T probably damaging Het
Diras1 G T 10: 81,022,138 S93* probably null Het
Emc3 C G 6: 113,531,383 V34L probably benign Het
Gbe1 T A 16: 70,561,132 Y681* probably null Het
Herc1 T A 9: 66,448,175 M2236K probably benign Het
Hmcn2 A T 2: 31,412,508 Y2948F probably damaging Het
Kif1b A G 4: 149,263,601 probably benign Het
Lrp2 T A 2: 69,527,555 I377F probably damaging Het
Mcoln2 C T 3: 146,183,561 T374M probably damaging Het
Ogdhl T C 14: 32,339,328 V492A possibly damaging Het
Parvg A G 15: 84,337,882 E323G probably benign Het
Pgm2l1 A G 7: 100,250,332 N51S probably benign Het
Plppr5 T A 3: 117,671,889 probably null Het
Prkcg A T 7: 3,315,001 probably benign Het
Prkg2 C A 5: 98,973,130 D411Y probably damaging Het
Ptprd A G 4: 76,086,329 V63A probably benign Het
Raf1 T A 6: 115,623,515 D10V probably benign Het
Rrm2b A G 15: 37,953,688 S39P possibly damaging Het
Scn5a A G 9: 119,492,047 probably null Het
Spata24 A G 18: 35,656,834 S167P probably damaging Het
Spock3 C T 8: 63,144,007 T115I possibly damaging Het
Tnfaip3 C A 10: 19,011,626 M50I probably damaging Het
Ubr2 A G 17: 46,992,985 probably benign Het
Ubr4 T C 4: 139,437,058 probably benign Het
Xkr9 G A 1: 13,684,062 W93* probably null Het
Other mutations in Mavs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00549:Mavs APN 2 131246716 missense probably damaging 1.00
IGL01520:Mavs APN 2 131245343 missense probably benign 0.38
IGL01909:Mavs APN 2 131245521 missense probably benign 0.43
IGL01941:Mavs APN 2 131246605 missense probably damaging 1.00
R0044:Mavs UTSW 2 131242024 missense probably damaging 1.00
R0045:Mavs UTSW 2 131238831 missense probably damaging 1.00
R0751:Mavs UTSW 2 131246764 missense probably damaging 1.00
R2051:Mavs UTSW 2 131240450 missense possibly damaging 0.94
R2061:Mavs UTSW 2 131240306 splice site probably benign
R2475:Mavs UTSW 2 131240450 missense probably damaging 1.00
R3883:Mavs UTSW 2 131245298 missense probably benign
R4152:Mavs UTSW 2 131246608 missense probably benign 0.22
R4580:Mavs UTSW 2 131240450 missense probably damaging 1.00
R4619:Mavs UTSW 2 131240450 missense probably damaging 1.00
R4779:Mavs UTSW 2 131240365 missense probably damaging 1.00
R4928:Mavs UTSW 2 131246743 missense probably benign 0.00
R6092:Mavs UTSW 2 131245598 nonsense probably null
R6211:Mavs UTSW 2 131240391 missense probably damaging 0.99
R7024:Mavs UTSW 2 131243131 missense probably benign 0.01
Posted On2012-12-21