Incidental Mutation 'IGL00848:Mb21d1'
ID278006
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? Possibly non essential (E-score: 0.329) question?
Stock #IGL00848
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,246,724 E869G probably damaging Het
A930011G23Rik A G 5: 99,222,378 F508L probably damaging Het
Adgra3 C T 5: 50,001,949 G320R probably damaging Het
Arhgef40 G A 14: 51,987,427 V10M probably damaging Het
Birc6 C T 17: 74,696,393 Q4739* probably null Het
Cdh20 C T 1: 104,934,256 H54Y probably benign Het
Cep112 A G 11: 108,472,060 D202G probably damaging Het
Cfhr2 T A 1: 139,831,232 T27S probably benign Het
Copa T A 1: 172,110,688 C523S possibly damaging Het
Copz1 T A 15: 103,298,749 probably benign Het
Crybg1 A C 10: 43,967,818 probably null Het
Cyp3a11 A T 5: 145,862,465 I304N probably damaging Het
Eif2d C T 1: 131,164,436 Q315* probably null Het
Fgfr4 A G 13: 55,159,170 E224G probably damaging Het
Fndc3b A T 3: 27,451,509 L870Q probably damaging Het
Glt8d2 C T 10: 82,662,165 probably null Het
Gpat3 A T 5: 100,893,144 M357L probably benign Het
Hrnr A T 3: 93,322,897 K147N unknown Het
Kbtbd3 T A 9: 4,331,184 S519R probably damaging Het
Kcnv1 A G 15: 45,113,228 I221T probably benign Het
Khdrbs2 C T 1: 32,472,752 A266V probably benign Het
Lmtk2 A G 5: 144,176,398 E1312G probably benign Het
Mos T C 4: 3,871,459 N119S probably damaging Het
Mtpap C T 18: 4,380,717 H132Y probably benign Het
Myo18b G A 5: 112,871,485 T642I probably damaging Het
Myo5c A G 9: 75,289,181 E1303G probably benign Het
Napepld A T 5: 21,683,193 M86K probably benign Het
Nvl T A 1: 181,105,125 D709V probably damaging Het
Pak1ip1 A T 13: 41,012,623 E341D probably benign Het
Pgghg G A 7: 140,942,404 G32D probably damaging Het
Phlpp1 G A 1: 106,376,255 R1096H probably damaging Het
Phlpp1 C T 1: 106,339,448 T697M probably damaging Het
Piwil4 T G 9: 14,727,411 T273P probably damaging Het
Pkd2l1 A T 19: 44,192,279 probably benign Het
Polr3b A G 10: 84,680,377 D623G probably damaging Het
Pop1 A G 15: 34,508,729 T317A probably benign Het
Prune2 A T 19: 17,119,118 K662I probably damaging Het
Ptger4 T C 15: 5,235,108 I356V probably benign Het
Rhbdd1 T C 1: 82,340,444 L16P possibly damaging Het
Rps11 C T 7: 45,123,501 R22Q probably benign Het
Sfxn2 A T 19: 46,590,157 I204F probably damaging Het
Slc26a9 C T 1: 131,757,528 S365F probably damaging Het
Slc47a2 C T 11: 61,302,233 V565M probably benign Het
Spns1 T C 7: 126,371,242 probably null Het
Stk3 T A 15: 35,114,622 E48V possibly damaging Het
Svs3b T C 2: 164,256,101 E100G probably damaging Het
Tjp1 T C 7: 65,303,194 Q1464R probably benign Het
Tspan10 T C 11: 120,444,270 S69P probably benign Het
Usp32 T C 11: 85,051,181 probably benign Het
Vps45 G T 3: 96,056,973 probably benign Het
Zfp106 A T 2: 120,512,727 N1790K probably damaging Het
Zfp704 A T 3: 9,565,239 S21T possibly damaging 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
IGL00730: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
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
Posted On2015-04-16