Incidental Mutation 'R7199:Mb21d1'
ID560171
Institutional Source Beutler Lab
Gene Symbol Mb21d1
Ensembl Gene ENSMUSG00000032344
Gene NameMab-21 domain containing 1
SynonymsE330016A19Rik, cGas
MMRRC Submission
Accession Numbers

NCBI RefSeq: NM_173386; MGI:2442261

Is this an essential gene? Probably non essential (E-score: 0.145) question?
Stock #R7199 (G1)
Quality Score225.009
Status Not validated
Chromosome9
Chromosomal Location78430526-78443237 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 78433033 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 472 (K472N)
Ref Sequence ENSEMBL: ENSMUSP00000063331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034898] [ENSMUST00000070742]
PDB Structure
Structure of cyclic GMP-AMP Synthase (cGAS) [X-RAY DIFFRACTION]
Structure of Binary Complex of cGAS with Bound dsDNA [X-RAY DIFFRACTION]
Structure of Ternary Complex of cGAS with dsDNA and Bound ATP [X-RAY DIFFRACTION]
Structure of Ternary Complex of cGAS with dsDNA and Bound 5 -pppG(2 ,5 )pG [X-RAY DIFFRACTION]
Structure of Ternary Complex of cGAS with dsDNA and Bound 5 -pppdG(2 ,5 )pdG [X-RAY DIFFRACTION]
Structure of Ternary Complex of cGAS with dsDNA and Bound 5 -pG(2 ,5 )pA [X-RAY DIFFRACTION]
Structure of Ternary Complex of cGAS with dsDNA and Bound c[G(2 ,5 )pA(3 ,5 )p] [X-RAY DIFFRACTION]
Structure of mouse cGAS bound to 18 bp DNA [X-RAY DIFFRACTION]
Structure of mouse cGAS bound to an 18bp DNA and cGAS product [X-RAY DIFFRACTION]
Mouse cyclic GMP-AMP synthase (cGAS) in complex with DNA [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000034898
SMART Domains Protein: ENSMUSP00000034898
Gene: ENSMUSG00000032344

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: K472N

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000063331
Gene: ENSMUSG00000032344
AA Change: K472N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A G 16: 88,759,014 T39A probably damaging Het
5430419D17Rik G A 7: 131,235,912 W512* probably null Het
Abca3 G A 17: 24,377,707 G378D probably damaging Het
Abtb2 T C 2: 103,567,220 V165A possibly damaging Het
Ache A G 5: 137,290,242 E70G probably damaging Het
Adamtsl4 T C 3: 95,680,809 T623A probably benign Het
Ahdc1 G A 4: 133,064,624 V1059I probably benign Het
Ajuba G A 14: 54,573,458 Q357* probably null Het
Ano7 A T 1: 93,402,978 D54V Het
Apob A T 12: 8,005,072 D1357V probably damaging Het
Atad2b T A 12: 5,017,992 Y997N probably damaging Het
Bhlhe22 C A 3: 18,055,842 T352K probably damaging Het
Bsn T C 9: 108,115,334 E1073G probably damaging Het
Bzw2 G A 12: 36,130,055 R58* probably null Het
C7 G T 15: 4,994,243 S694R probably benign Het
Cbr2 T A 11: 120,730,261 H170L probably benign Het
Ckap2l T C 2: 129,285,055 N401S probably benign Het
Cldn1 A G 16: 26,371,596 F11L probably benign Het
Cmtr1 A G 17: 29,676,200 T118A probably benign Het
Cog6 T C 3: 52,983,189 E610G probably benign Het
Col3a1 G T 1: 45,332,141 A451S probably null Het
Cr1l T A 1: 195,117,570 R265S probably benign Het
Dapk1 T C 13: 60,754,210 I951T probably benign Het
Dnah9 T C 11: 66,118,944 N706D probably benign Het
Dpysl5 A T 5: 30,783,195 T239S probably benign Het
Ect2l T A 10: 18,129,146 Y913F probably benign Het
Elf5 C A 2: 103,439,296 A74D possibly damaging Het
Erap1 T C 13: 74,666,139 V399A probably benign Het
Ercc4 A G 16: 13,147,793 D763G probably damaging Het
Fam222b T A 11: 78,154,857 C415S possibly damaging Het
Fat4 A C 3: 38,977,362 N2432T probably damaging Het
Fbn2 G T 18: 58,053,761 C1689* probably null Het
Frrs1l T A 4: 56,972,282 T140S probably damaging Het
Gm14025 A G 2: 129,038,318 S563P Het
Gm5141 A T 13: 62,777,063 H10Q possibly damaging Het
Inafm1 A T 7: 16,273,154 L46Q probably damaging Het
Irak2 T C 6: 113,673,084 L260P probably damaging Het
Kat2b T C 17: 53,670,678 L751P probably damaging Het
Kcnh1 T A 1: 192,337,605 I413N probably benign Het
Kirrel T C 3: 87,083,388 D709G probably benign Het
Lama4 T C 10: 39,080,540 V1153A possibly damaging Het
Lipg A T 18: 74,955,584 F98L probably benign Het
Lman1 T C 18: 65,994,865 E236G probably damaging Het
Lrp1 T A 10: 127,573,456 D1598V probably damaging Het
Lrrc71 T A 3: 87,743,077 N230Y probably damaging Het
Maneal T C 4: 124,857,190 S258G possibly damaging Het
March10 T A 11: 105,390,706 E251V probably damaging Het
Mpdz A G 4: 81,297,333 I1484T probably damaging Het
Mtcl1 T A 17: 66,340,539 N1882I probably benign Het
Neb G A 2: 52,220,200 A212V probably benign Het
Obscn G A 11: 59,012,846 S7434L probably benign Het
Olfr1297 T C 2: 111,621,193 M294V probably benign Het
Olfr340 A T 2: 36,452,860 I92F probably damaging Het
Olfr51 T A 11: 51,007,396 C141* probably null Het
Olfr761 A C 17: 37,952,157 I289S probably damaging Het
Olfr971 A G 9: 39,839,457 M8V probably benign Het
Orc6 T C 8: 85,302,961 probably null Het
Otogl T G 10: 107,874,533 E565A possibly damaging Het
Papss1 A G 3: 131,585,138 Q214R probably benign Het
Pck2 G A 14: 55,548,712 V653M probably benign Het
Plxna4 G A 6: 32,215,178 Q826* probably null Het
Pms1 T A 1: 53,256,730 T161S probably benign Het
Prkar2a C A 9: 108,740,470 N242K probably damaging Het
Prss1 T A 6: 41,462,756 I141N probably damaging Het
Puf60 A G 15: 76,071,868 V235A probably damaging Het
Rapgef6 T A 11: 54,546,426 F65Y probably benign Het
Rasgef1b T C 5: 99,300,039 E104G unknown Het
Rcn3 T C 7: 45,084,909 Y225C probably damaging Het
Rhot1 G C 11: 80,246,734 W354S probably damaging Het
Rp1 T C 1: 4,347,290 S1200G possibly damaging Het
Scaper T A 9: 55,838,176 K603* probably null Het
Selenbp1 G A 3: 94,944,434 V429I possibly damaging Het
Setd5 T G 6: 113,121,138 S713A probably benign Het
Shank1 T C 7: 44,353,140 Y1428H possibly damaging Het
Slc11a1 G T 1: 74,383,671 W361L possibly damaging Het
Spta1 A T 1: 174,223,271 D1772V possibly damaging Het
St8sia6 T C 2: 13,656,910 H370R probably damaging Het
Stkld1 A T 2: 26,952,714 D566V probably damaging Het
Tango6 T C 8: 106,689,159 V204A probably benign Het
Tdrd5 G A 1: 156,301,723 A139V probably damaging Het
Tenm2 A T 11: 36,171,436 V534E probably damaging Het
Tfip11 A T 5: 112,331,178 Q204L probably benign Het
Tlr4 A T 4: 66,841,193 Q741L probably damaging Het
Tmem18 A G 12: 30,588,655 M111V probably benign Het
Togaram1 A G 12: 64,995,518 N1167S probably benign Het
Trappc3 C T 4: 126,275,152 A145V possibly damaging Het
Trbj2-3 T C 6: 41,543,242 F7S probably damaging Het
Vmn1r212 T A 13: 22,883,561 M201L probably benign Het
Xaf1 C A 11: 72,303,375 C27* probably null Het
Zeb1 T C 18: 5,767,703 V738A probably benign Het
Zfp524 A T 7: 5,017,884 H137L probably damaging Het
Zfyve19 A T 2: 119,216,637 H367L probably damaging Het
Zim1 G A 7: 6,677,873 Q264* 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
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 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
Predicted Primers PCR Primer
(F):5'- ACCCAATTTGATTTCAGAAGGC -3'
(R):5'- GATGCATTCTGTTCCTACCATG -3'

Sequencing Primer
(F):5'- GGCAGATCTCTTTGTTCAAGACCAG -3'
(R):5'- GTTCCTACCATGTGAAAACTGC -3'
Posted On2019-06-26