Incidental Mutation 'R8121:Mavs'
ID 631483
Institutional Source Beutler Lab
Gene Symbol Mavs
Ensembl Gene ENSMUSG00000037523
Gene Name mitochondrial antiviral signaling protein
Synonyms IPS-1, D430028G21Rik
MMRRC Submission 067550-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8121 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 131075983-131089945 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 131087395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 298 (T298P)
Ref Sequence ENSEMBL: ENSMUSP00000038339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041362] [ENSMUST00000110199] [ENSMUST00000130597]
AlphaFold Q8VCF0
Predicted Effect probably damaging
Transcript: ENSMUST00000041362
AA Change: T298P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038339
Gene: ENSMUSG00000037523
AA Change: T298P

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: T298P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105828
Gene: ENSMUSG00000037523
AA Change: T298P

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
Meta Mutation Damage Score 0.1764 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.1%
  • 20x: 97.3%
Validation Efficiency 100% (60/60)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A T 6: 83,138,893 (GRCm39) M273L probably benign Het
Abi3bp A T 16: 56,452,241 (GRCm39) K912N unknown Het
Arfgap2 T C 2: 91,096,028 (GRCm39) F62L probably benign Het
Arhgap45 A G 10: 79,853,909 (GRCm39) E141G probably damaging Het
Atraid G A 5: 31,211,642 (GRCm39) probably null Het
Cd101 G A 3: 100,927,898 (GRCm39) A65V probably damaging Het
Cd177 A G 7: 24,459,067 (GRCm39) V114A probably benign Het
Cdh6 T C 15: 13,044,757 (GRCm39) N455S probably damaging Het
Cdk14 A T 5: 5,277,195 (GRCm39) S145T possibly damaging Het
Ces1h T C 8: 94,080,104 (GRCm39) E470G unknown Het
Cfap58 A G 19: 48,017,543 (GRCm39) Y801C probably benign Het
Clec2d C T 6: 129,161,847 (GRCm39) T160M probably benign Het
Cryz A G 3: 154,327,382 (GRCm39) I269V probably benign Het
Ctdp1 A T 18: 80,499,223 (GRCm39) Y240N probably damaging Het
Dapk1 A G 13: 60,909,212 (GRCm39) Y1275C probably damaging Het
Dnah9 A G 11: 65,908,201 (GRCm39) I2385T probably benign Het
Dpp8 A G 9: 64,985,362 (GRCm39) M807V probably benign Het
Entpd3 T A 9: 120,384,720 (GRCm39) I99N probably damaging Het
Fbxw11 A G 11: 32,670,646 (GRCm39) E204G possibly damaging Het
Fscn1 T C 5: 142,946,616 (GRCm39) M138T probably damaging Het
Gm5114 T A 7: 39,057,552 (GRCm39) Q689L probably benign Het
Iqgap2 T C 13: 95,861,076 (GRCm39) N350S probably benign Het
Kcnj10 T A 1: 172,196,809 (GRCm39) C108S probably damaging Het
Krtap10-4 G A 10: 77,662,840 (GRCm39) R13C unknown Het
Lmo7 T C 14: 102,163,736 (GRCm39) I1527T unknown Het
Lrrc17 A G 5: 21,775,329 (GRCm39) K297R probably benign Het
Ltb4r1 G A 14: 56,005,579 (GRCm39) R294H probably damaging Het
Macc1 A G 12: 119,410,324 (GRCm39) D364G probably damaging Het
Myh8 G T 11: 67,180,647 (GRCm39) A628S probably benign Het
Neurl4 A T 11: 69,799,056 (GRCm39) probably null Het
Nicn1 C A 9: 108,172,304 (GRCm39) T213K probably damaging Het
Nptx1 G A 11: 119,433,492 (GRCm39) T369I probably damaging Het
Nt5c1a T C 4: 123,102,235 (GRCm39) S54P probably damaging Het
Nup210l G A 3: 90,022,428 (GRCm39) R132Q probably damaging Het
Or2b11 A T 11: 59,461,870 (GRCm39) I232N probably damaging Het
Or4k41 A G 2: 111,279,505 (GRCm39) T7A probably benign Het
Or4p18 A T 2: 88,233,040 (GRCm39) F79L probably benign Het
Or7g22 G A 9: 19,048,988 (GRCm39) G233E probably damaging Het
Pip5k1b A T 19: 24,337,355 (GRCm39) I311N probably damaging Het
Pkdrej C T 15: 85,699,655 (GRCm39) V2094I probably benign Het
Pla2g2f A G 4: 138,479,621 (GRCm39) Y179H probably damaging Het
Plekha3 A T 2: 76,516,992 (GRCm39) T115S probably damaging Het
Ppp4c A G 7: 126,386,496 (GRCm39) L167P probably damaging Het
Pramel28 T A 4: 143,691,611 (GRCm39) S371C probably benign Het
Rarg A G 15: 102,148,393 (GRCm39) I238T probably damaging Het
Scn7a A T 2: 66,531,203 (GRCm39) I558N probably damaging Het
Sema3a C A 5: 13,649,215 (GRCm39) H655N probably damaging Het
Serpinb6c T C 13: 34,064,201 (GRCm39) M285V probably benign Het
Setx T A 2: 29,035,046 (GRCm39) S510R possibly damaging Het
Sgcz A G 8: 37,990,457 (GRCm39) S299P probably damaging Het
Slc12a2 T A 18: 58,032,403 (GRCm39) F368I probably benign Het
Slc7a9 C A 7: 35,153,542 (GRCm39) T181K probably damaging Het
Slco2b1 G A 7: 99,334,760 (GRCm39) T237M probably benign Het
Spg11 A G 2: 121,900,348 (GRCm39) probably null Het
Tbc1d22b G T 17: 29,791,945 (GRCm39) G225V probably damaging Het
Tbcd A G 11: 121,487,969 (GRCm39) probably null Het
Unc93a T C 17: 13,328,560 (GRCm39) Y431C probably benign Het
Vmn1r65 C T 7: 6,011,464 (GRCm39) V257I possibly damaging Het
Vmn2r124 A T 17: 18,282,433 (GRCm39) T154S probably benign Het
Wnk2 A T 13: 49,214,415 (GRCm39) L1487* probably null Het
Zfp853 G A 5: 143,274,018 (GRCm39) A549V probably damaging Het
Zfp936 C T 7: 42,839,547 (GRCm39) T338I possibly 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
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
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'- AAACCTCTTGTCTGGGGTCAC -3'
(R):5'- GTCACTCTCAGGAACAAGGAC -3'

Sequencing Primer
(F):5'- GGGTCACAGTATCAGCCCTATCTG -3'
(R):5'- GGACTCACCTTGGCTTGC -3'
Posted On 2020-06-30