Incidental Mutation 'IGL01941:Mavs'
ID 181144
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

MGI: 2444773
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01941
Quality Score
Status
Chromosome 2
Chromosomal Location 131234063-131248025 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131246605 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 443 (V443A)
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: V443A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038339
Gene: ENSMUSG00000037523
AA Change: V443A

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: V443A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105828
Gene: ENSMUSG00000037523
AA Change: V443A

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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik A T 12: 24,044,801 L123Q probably benign Het
Abca2 C T 2: 25,443,095 S1602F probably benign Het
Abcc9 C A 6: 142,605,904 C1191F probably damaging Het
Adam3 G T 8: 24,681,446 probably benign Het
Aldh1l1 G T 6: 90,562,695 G202V probably damaging Het
Ankrd46 T C 15: 36,485,937 N57D possibly damaging Het
Asic1 A T 15: 99,699,101 H548L possibly damaging Het
Atpaf2 A G 11: 60,403,898 I233T probably benign Het
Ccdc129 A G 6: 55,968,045 R584G probably benign Het
Ccdc185 G T 1: 182,748,204 Q307K probably benign Het
Cep120 T C 18: 53,723,148 D399G probably benign Het
Cnn2 G A 10: 79,992,554 V122M probably benign Het
Dgkd T C 1: 87,924,559 S472P probably damaging Het
Dock5 A C 14: 67,812,232 I701S probably damaging Het
Efl1 A G 7: 82,697,976 E570G probably benign Het
Eln G A 5: 134,718,170 probably benign Het
Fat2 A G 11: 55,312,005 V81A probably benign Het
Fbxw21 T G 9: 109,148,156 I162L probably benign Het
Fhl2 G A 1: 43,131,672 Q161* probably null Het
Gabrg2 A G 11: 41,971,721 Y179H probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm7714 A G 5: 88,282,442 S66G probably benign Het
Grik5 A T 7: 25,065,182 I152N probably damaging Het
H2-Ab1 A T 17: 34,267,434 K156* probably null Het
Hecw1 T C 13: 14,316,310 Y699C probably benign Het
Ipo9 A C 1: 135,408,073 V202G possibly damaging Het
Jmjd6 A T 11: 116,841,358 probably null Het
Lama5 A G 2: 180,192,392 I1416T possibly damaging Het
Matn1 T C 4: 130,952,261 probably benign Het
Mpdz A T 4: 81,286,387 S1798R possibly damaging Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Olfr1251 A T 2: 89,667,468 C139* probably null Het
Otud7b G T 3: 96,155,459 G672C probably benign Het
Palld T A 8: 61,535,700 T572S probably benign Het
Pde6b T A 5: 108,423,036 V379E probably benign Het
Peak1 A G 9: 56,258,775 V623A probably damaging Het
Prr12 C T 7: 45,048,659 probably benign Het
Rxra T C 2: 27,754,241 I315T probably damaging Het
Slc11a1 C T 1: 74,377,179 A55V probably damaging Het
Slitrk3 T C 3: 73,051,071 N123D possibly damaging Het
Spcs1 A G 14: 31,000,872 M82T probably damaging Het
Sspo A G 6: 48,495,182 E113G probably benign Het
Syne2 A G 12: 75,967,220 K3062E probably benign Het
Traf3ip2 T C 10: 39,634,660 S310P probably benign Het
Ubp1 T C 9: 113,956,758 L167S probably damaging Het
Vmn1r196 T A 13: 22,293,699 C169* probably null Het
Vmn1r223 T A 13: 23,250,237 F334I possibly damaging Het
Vmn2r10 A T 5: 108,995,954 I710N probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr26 A G 1: 181,211,070 probably benign Het
Wnt7a A G 6: 91,394,663 F106L probably benign Het
Zfp940 C T 7: 29,846,870 V34M probably damaging 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
R0044:Mavs UTSW 2 131242024 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
R7568:Mavs UTSW 2 131245475 missense probably benign 0.17
R8121:Mavs UTSW 2 131245475 missense probably damaging 0.98
R8306:Mavs UTSW 2 131246550 missense probably benign 0.01
R8877:Mavs UTSW 2 131245569 missense possibly damaging 0.88
R9020:Mavs UTSW 2 131246674 missense possibly damaging 0.87
R9117:Mavs UTSW 2 131245325 missense probably benign 0.01
R9404:Mavs UTSW 2 131241898 missense probably damaging 0.99
Z1176:Mavs UTSW 2 131240401 missense probably damaging 1.00
Posted On 2014-05-07