Incidental Mutation 'R4162:Cgas'
| ID |
321571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cgas
|
| Ensembl Gene |
ENSMUSG00000032344 |
| Gene Name |
cyclic GMP-AMP synthase |
| Synonyms |
Mb21d1, E330016A19Rik |
| MMRRC Submission |
041005-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R4162 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
78337808-78350519 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78341686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 364
(R364C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034898]
[ENSMUST00000070742]
|
| AlphaFold |
Q8C6L5 |
| 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 damaging
Transcript: ENSMUST00000034898
AA Change: R364C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034898
Gene: ENSMUSG00000032344
AA Change: R364C
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000070742
AA Change: R364C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063331
Gene: ENSMUSG00000032344
AA Change: R364C
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
84 |
99 |
N/A |
INTRINSIC |
|
Pfam:Mab-21
|
136 |
229 |
6.8e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129983
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144982
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
93% (38/41) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
T |
A |
10: 83,342,518 (GRCm39) |
I431F |
possibly damaging |
Het |
| Atrn |
A |
G |
2: 130,836,148 (GRCm39) |
|
probably benign |
Het |
| Cep57 |
C |
T |
9: 13,723,929 (GRCm39) |
|
probably null |
Het |
| Cybc1 |
T |
C |
11: 121,115,492 (GRCm39) |
D109G |
probably damaging |
Het |
| Defb41 |
C |
T |
1: 18,330,821 (GRCm39) |
C42Y |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
| Flnb |
A |
T |
14: 7,915,374 (GRCm38) |
I1502F |
possibly damaging |
Het |
| Gli3 |
G |
T |
13: 15,899,700 (GRCm39) |
S1029I |
possibly damaging |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,867,202 (GRCm39) |
|
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,507,042 (GRCm39) |
K478E |
probably damaging |
Het |
| Il18 |
T |
C |
9: 50,490,712 (GRCm39) |
S116P |
probably damaging |
Het |
| Itsn1 |
C |
A |
16: 91,649,790 (GRCm39) |
P155T |
probably benign |
Het |
| Kdm5b |
C |
T |
1: 134,552,899 (GRCm39) |
P1292S |
probably benign |
Het |
| Mef2b |
T |
C |
8: 70,618,961 (GRCm39) |
F181S |
probably damaging |
Het |
| Mfn1 |
T |
C |
3: 32,617,147 (GRCm39) |
|
probably benign |
Het |
| Mfsd12 |
A |
G |
10: 81,196,931 (GRCm39) |
|
probably null |
Het |
| Myo10 |
T |
A |
15: 25,726,501 (GRCm39) |
|
probably null |
Het |
| Nrxn2 |
G |
A |
19: 6,582,173 (GRCm39) |
V660I |
probably damaging |
Het |
| Nsun4 |
G |
T |
4: 115,891,391 (GRCm39) |
Y329* |
probably null |
Het |
| Pank4 |
T |
C |
4: 155,064,051 (GRCm39) |
|
probably null |
Het |
| Plcb2 |
T |
A |
2: 118,540,068 (GRCm39) |
E1075V |
probably damaging |
Het |
| Prep |
G |
T |
10: 44,943,458 (GRCm39) |
R11L |
possibly damaging |
Het |
| Prkcd |
A |
G |
14: 30,323,154 (GRCm39) |
F461L |
probably damaging |
Het |
| Saxo5 |
C |
T |
8: 3,529,067 (GRCm39) |
P214L |
probably damaging |
Het |
| Snx21 |
T |
C |
2: 164,628,770 (GRCm39) |
Y138H |
probably damaging |
Het |
| Spout1 |
C |
T |
2: 30,067,589 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,071,586 (GRCm39) |
S2378P |
probably damaging |
Het |
| Thap12 |
C |
T |
7: 98,359,285 (GRCm39) |
|
probably benign |
Het |
| Trav3-1 |
T |
C |
14: 52,818,496 (GRCm39) |
Y57H |
probably damaging |
Het |
| Ttc39c |
A |
G |
18: 12,857,994 (GRCm39) |
|
probably null |
Het |
| Tubgcp3 |
C |
T |
8: 12,689,547 (GRCm39) |
R573Q |
possibly damaging |
Het |
| Ush2a |
A |
C |
1: 188,475,877 (GRCm39) |
K2938T |
probably benign |
Het |
| Vasp |
A |
T |
7: 18,993,397 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
C |
A |
8: 109,683,619 (GRCm39) |
T3686K |
unknown |
Het |
|
| Other mutations in Cgas |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00501:Cgas
|
APN |
9 |
78,342,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00727:Cgas
|
APN |
9 |
78,342,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00730:Cgas
|
APN |
9 |
78,342,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00731:Cgas
|
APN |
9 |
78,342,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00737:Cgas
|
APN |
9 |
78,342,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00753:Cgas
|
APN |
9 |
78,342,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00754:Cgas
|
APN |
9 |
78,342,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00832:Cgas
|
APN |
9 |
78,341,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00848:Cgas
|
APN |
9 |
78,342,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00849:Cgas
|
APN |
9 |
78,342,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01627:Cgas
|
APN |
9 |
78,349,996 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01642:Cgas
|
APN |
9 |
78,344,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01993:Cgas
|
APN |
9 |
78,349,802 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02206:Cgas
|
APN |
9 |
78,350,362 (GRCm39) |
splice site |
probably null |
|
|
IGL02367:Cgas
|
APN |
9 |
78,341,667 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03053:Cgas
|
APN |
9 |
78,344,719 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0361:Cgas
|
UTSW |
9 |
78,340,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Cgas
|
UTSW |
9 |
78,343,020 (GRCm39) |
splice site |
probably benign |
|
|
R1531:Cgas
|
UTSW |
9 |
78,349,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1554:Cgas
|
UTSW |
9 |
78,342,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1817:Cgas
|
UTSW |
9 |
78,341,593 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1872:Cgas
|
UTSW |
9 |
78,340,484 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1964:Cgas
|
UTSW |
9 |
78,344,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6951:Cgas
|
UTSW |
9 |
78,349,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Cgas
|
UTSW |
9 |
78,340,315 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8798:Cgas
|
UTSW |
9 |
78,350,348 (GRCm39) |
missense |
probably benign |
|
|
R9025:Cgas
|
UTSW |
9 |
78,349,787 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCAGGAATAATCATCCCC -3'
(R):5'- CCCCATTTAAGTCTACTGTTGCTG -3'
Sequencing Primer
(F):5'- CACACCGAGCTATTGTGCC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation