Incidental Mutation 'IGL03053:Mb21d1'
ID409141
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: 0.138) question?
Stock #IGL03053
Quality Score
Status
Chromosome9
Chromosomal Location78430526-78443237 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 78437437 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 234 (F234Y)
Ref Sequence ENSEMBL: ENSMUSP00000034898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034898] [ENSMUST00000070742]
Predicted Effect probably benign
Transcript: ENSMUST00000034898
AA Change: F234Y

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000034898
Gene: ENSMUSG00000032344
AA Change: F234Y

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 probably benign
Transcript: ENSMUST00000070742
AA Change: F234Y

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000063331
Gene: ENSMUSG00000032344
AA Change: F234Y

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 unknown
Transcript: ENSMUST00000127190
AA Change: F169Y
SMART Domains Protein: ENSMUSP00000114277
Gene: ENSMUSG00000032344
AA Change: F169Y

DomainStartEndE-ValueType
low complexity region 84 99 N/A INTRINSIC
Pfam:Mab-21 136 229 6.8e-16 PFAM
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 G A 4: 106,755,853 Q342* probably null Het
Arglu1 T A 8: 8,683,960 I119L probably benign Het
Atp1a2 G A 1: 172,278,356 T914I probably damaging Het
Birc6 C T 17: 74,565,972 R409C probably damaging Het
Brwd1 A T 16: 96,017,677 S1318R possibly damaging Het
C1qtnf12 A T 4: 155,966,464 N297Y probably damaging Het
Cbwd1 T A 19: 24,955,377 E97D probably damaging Het
Cyp2a4 A T 7: 26,313,550 probably benign Het
Cyp2j7 C T 4: 96,230,037 M106I probably benign Het
Dis3 A G 14: 99,098,734 V112A probably benign Het
Ehd3 A G 17: 73,805,442 Y67C probably damaging Het
Elavl4 A T 4: 110,251,494 S16T possibly damaging Het
F2rl1 A C 13: 95,513,618 V252G probably benign Het
Fggy A T 4: 95,926,809 probably benign Het
Hc G T 2: 35,024,198 N832K probably benign Het
Hnf1a T A 5: 114,970,733 M38L probably benign Het
Kif13a T C 13: 46,752,088 N793S probably benign Het
Kit A G 5: 75,610,914 N244D probably benign Het
Mgat5b A G 11: 116,923,450 E60G possibly damaging Het
Obsl1 T C 1: 75,493,079 H1098R probably benign Het
Olfr1094 A G 2: 86,829,263 I170M possibly damaging Het
Olfr1178 A G 2: 88,391,594 M116V probably damaging Het
Olfr1230 A C 2: 89,296,445 I275S probably damaging Het
Olfr138 A C 17: 38,274,791 S7R probably damaging Het
Olfr166 A T 16: 19,487,219 H127L probably benign Het
Olfr198 A G 16: 59,202,247 Y60H probably damaging Het
Olfr215 T C 6: 116,582,245 R234G possibly damaging Het
Pitpnm2 A G 5: 124,143,601 I42T probably damaging Het
Prkd2 A G 7: 16,850,263 D347G possibly damaging Het
Prkdc A G 16: 15,834,166 I3806V probably benign Het
Rasgrp2 T C 19: 6,407,332 probably benign Het
Rc3h1 T A 1: 160,955,817 D734E probably benign Het
Rtel1 A G 2: 181,351,944 K619E probably benign Het
Tnfrsf26 T C 7: 143,614,860 D147G possibly damaging Het
Ufl1 A G 4: 25,275,833 I110T probably damaging Het
Ugt2b36 A G 5: 87,092,074 S151P possibly damaging Het
Vmn2r25 T C 6: 123,823,118 Y755C probably damaging Het
Zfhx3 T C 8: 108,946,500 V1394A probably damaging Het
Zzef1 G T 11: 72,831,539 probably benign 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
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 splice site probably null
IGL02367:Mb21d1 APN 9 78434385 missense probably benign 0.04
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 On2016-08-02