Incidental Mutation 'IGL00730:Mb21d1'
ID277861
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mb21d1
Ensembl Gene ENSMUSG00000032344
Gene NameMab-21 domain containing 1
SynonymsE330016A19Rik, cGas
Accession Numbers

NCBI RefSeq: NM_173386; MGI:2442261

Is this an essential gene? Probably non essential (E-score: 0.182) question?
Stock #IGL00730
Quality Score
Status
Chromosome9
Chromosomal Location78430526-78443237 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 78435488 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 344 (P344L)
Ref Sequence ENSEMBL: ENSMUSP00000034898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034898] [ENSMUST00000070742]
Predicted Effect probably damaging
Transcript: ENSMUST00000034898
AA Change: P344L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034898
Gene: ENSMUSG00000032344
AA Change: P344L

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
low complexity region 148 163 N/A INTRINSIC
Mab-21 199 394 1.89e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000070742
AA Change: P344L

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000063331
Gene: ENSMUSG00000032344
AA Change: P344L

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
low complexity region 148 163 N/A INTRINSIC
Mab-21 199 498 2.79e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127190
SMART Domains Protein: ENSMUSP00000114277
Gene: ENSMUSG00000032344

DomainStartEndE-ValueType
low complexity region 84 99 N/A INTRINSIC
Pfam:Mab-21 136 229 6.8e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144982
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a DNA binding cytosolic protein that catalyzes the synthesis of cyclic guanosine monophosphate-adenosine monophosphate (cGAMP) after sensing the presence of DNA in the cytoplasm. cGAMP binds another protein, Stimulator of interferon genes (STING), leading to the induction of interferons, and a host immune response. Reduced expression of this gene inhibits interferon induction in the presence of some viral infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit increased susceptibility to viral infection and abnormal innate immunity. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted(2) Gene trapped(4)

Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416C03Rik A C 10: 116,113,026 D198E probably benign Het
Adnp2 A T 18: 80,128,032 I1054N probably benign Het
Carf C T 1: 60,147,418 Q511* probably null Het
Dnaaf5 G T 5: 139,151,668 probably null Het
Gen1 T C 12: 11,261,067 N55D probably damaging Het
Gsdmc4 T A 15: 63,897,804 R190W probably damaging Het
Hsd3b5 A T 3: 98,630,057 S48T probably benign Het
Lactb2 T G 1: 13,647,516 probably benign Het
Pdzk1 A G 3: 96,868,426 D370G probably benign Het
Qtrt1 G T 9: 21,419,549 probably null Het
Tmem63c T A 12: 87,077,206 L486Q probably benign Het
Top2b A G 14: 16,389,831 Y223C probably damaging Het
Trpm2 T C 10: 77,942,915 probably null Het
Other mutations in Mb21d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Mb21d1 APN 9 78435587 missense probably damaging 1.00
IGL00727:Mb21d1 APN 9 78435488 missense probably damaging 0.99
IGL00731:Mb21d1 APN 9 78435488 missense probably damaging 0.99
IGL00737:Mb21d1 APN 9 78435488 missense probably damaging 0.99
IGL00753:Mb21d1 APN 9 78435488 missense probably damaging 0.99
IGL00754:Mb21d1 APN 9 78435488 missense probably damaging 0.99
IGL00832:Mb21d1 APN 9 78434317 missense probably damaging 1.00
IGL00848:Mb21d1 APN 9 78435488 missense probably damaging 0.99
IGL00849:Mb21d1 APN 9 78435488 missense probably damaging 0.99
IGL01627:Mb21d1 APN 9 78442714 missense possibly damaging 0.70
IGL01642:Mb21d1 APN 9 78437398 missense probably damaging 1.00
IGL01993:Mb21d1 APN 9 78442520 missense probably benign 0.18
IGL02206:Mb21d1 APN 9 78443080 unclassified probably null
IGL02367:Mb21d1 APN 9 78434385 missense probably benign 0.04
IGL03053:Mb21d1 APN 9 78437437 missense probably benign 0.14
R0361:Mb21d1 UTSW 9 78433252 missense probably damaging 1.00
R0426:Mb21d1 UTSW 9 78435738 splice site probably benign
R1531:Mb21d1 UTSW 9 78442481 missense probably damaging 1.00
R1554:Mb21d1 UTSW 9 78435556 missense probably damaging 1.00
R1817:Mb21d1 UTSW 9 78434311 critical splice donor site probably null
R1872:Mb21d1 UTSW 9 78433202 missense probably benign 0.06
R1964:Mb21d1 UTSW 9 78437455 missense probably damaging 0.99
R4162:Mb21d1 UTSW 9 78434404 missense probably damaging 1.00
R6951:Mb21d1 UTSW 9 78442558 missense probably damaging 1.00
R7199:Mb21d1 UTSW 9 78433033 missense probably benign 0.19
Posted On2015-04-16