Incidental Mutation 'IGL00727:Cgas'
ID |
277860 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cgas
|
Ensembl Gene |
ENSMUSG00000032344 |
Gene Name |
cyclic GMP-AMP synthase |
Synonyms |
Mb21d1, E330016A19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
IGL00727
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
78337808-78350519 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 78342770 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
|
AlphaFold |
Q8C6L5 |
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
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 |
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
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: 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: 11 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
T |
A |
13: 81,672,803 (GRCm39) |
Y1470F |
probably damaging |
Het |
Dennd5b |
G |
T |
6: 148,908,214 (GRCm39) |
|
probably benign |
Het |
Fmnl3 |
G |
A |
15: 99,220,551 (GRCm39) |
T577I |
probably damaging |
Het |
Klra17 |
A |
G |
6: 129,808,472 (GRCm39) |
Y254H |
probably benign |
Het |
Kprp |
A |
T |
3: 92,731,734 (GRCm39) |
S439T |
unknown |
Het |
Lrrc40 |
T |
C |
3: 157,769,508 (GRCm39) |
|
probably null |
Het |
Nlrp4c |
A |
G |
7: 6,069,701 (GRCm39) |
E534G |
possibly damaging |
Het |
Nsd3 |
T |
C |
8: 26,131,174 (GRCm39) |
S180P |
probably damaging |
Het |
Phc2 |
T |
G |
4: 128,639,637 (GRCm39) |
V640G |
probably damaging |
Het |
Ppp1r12a |
G |
A |
10: 108,066,334 (GRCm39) |
R175Q |
probably damaging |
Het |
Prkd1 |
C |
T |
12: 50,411,444 (GRCm39) |
R768H |
probably damaging |
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 |
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 |
R4162:Cgas
|
UTSW |
9 |
78,341,686 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2015-04-16 |