Incidental Mutation 'IGL02367:Cgas'
ID |
290772 |
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 # |
IGL02367
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
78337808-78350519 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 78341667 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 370
(T370I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034898]
[ENSMUST00000070742]
|
AlphaFold |
Q8C6L5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034898
AA Change: T370I
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000034898 Gene: ENSMUSG00000032344 AA Change: T370I
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 benign
Transcript: ENSMUST00000070742
AA Change: T370I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000063331 Gene: ENSMUSG00000032344 AA Change: T370I
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: ENSMUST00000128935
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129983
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
T |
C |
15: 81,949,748 (GRCm39) |
L1215P |
probably benign |
Het |
Angptl7 |
T |
C |
4: 148,584,601 (GRCm39) |
N49S |
possibly damaging |
Het |
Asns |
A |
G |
6: 7,685,411 (GRCm39) |
|
probably benign |
Het |
Atr |
T |
A |
9: 95,781,194 (GRCm39) |
Y1419* |
probably null |
Het |
Bptf |
A |
T |
11: 106,964,178 (GRCm39) |
I1672N |
probably benign |
Het |
Chd1 |
A |
G |
17: 17,610,315 (GRCm39) |
T490A |
probably damaging |
Het |
Cyfip2 |
A |
T |
11: 46,167,732 (GRCm39) |
C223* |
probably null |
Het |
Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
Dnah12 |
T |
C |
14: 26,430,316 (GRCm39) |
V308A |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,158,926 (GRCm39) |
V703A |
probably damaging |
Het |
Fgd3 |
A |
G |
13: 49,440,802 (GRCm39) |
F210L |
probably damaging |
Het |
Gm6526 |
T |
G |
14: 43,988,262 (GRCm39) |
V171G |
probably damaging |
Het |
Grin3a |
A |
G |
4: 49,702,805 (GRCm39) |
Y894H |
probably damaging |
Het |
Grm3 |
C |
A |
5: 9,561,660 (GRCm39) |
C730F |
probably damaging |
Het |
Habp4 |
C |
A |
13: 64,321,905 (GRCm39) |
P181T |
probably damaging |
Het |
Hdac4 |
A |
G |
1: 91,886,171 (GRCm39) |
|
probably benign |
Het |
Ints5 |
A |
G |
19: 8,872,959 (GRCm39) |
D306G |
probably benign |
Het |
Mid2 |
T |
A |
X: 139,637,245 (GRCm39) |
I273N |
probably damaging |
Het |
Ndufs2 |
A |
T |
1: 171,066,934 (GRCm39) |
Y114* |
probably null |
Het |
Neu4 |
G |
T |
1: 93,952,213 (GRCm39) |
R194L |
probably damaging |
Het |
Ntng1 |
A |
T |
3: 110,042,829 (GRCm39) |
|
probably null |
Het |
Nub1 |
A |
G |
5: 24,894,392 (GRCm39) |
M1V |
probably null |
Het |
Olfml2a |
A |
G |
2: 38,844,680 (GRCm39) |
T379A |
probably benign |
Het |
Or9e1 |
A |
T |
11: 58,732,338 (GRCm39) |
I133F |
probably benign |
Het |
Pex3 |
G |
T |
10: 13,400,643 (GRCm39) |
Q303K |
probably benign |
Het |
Pmp2 |
A |
T |
3: 10,247,560 (GRCm39) |
I43N |
probably damaging |
Het |
Pnliprp1 |
T |
A |
19: 58,726,601 (GRCm39) |
D319E |
probably benign |
Het |
Rap1gap2 |
A |
T |
11: 74,288,181 (GRCm39) |
|
probably null |
Het |
Rpl15-ps6 |
T |
C |
15: 52,341,368 (GRCm39) |
|
noncoding transcript |
Het |
Rwdd3 |
A |
G |
3: 120,952,679 (GRCm39) |
V104A |
probably damaging |
Het |
Sbf1 |
A |
T |
15: 89,191,775 (GRCm39) |
V157E |
probably damaging |
Het |
Slc4a11 |
T |
A |
2: 130,526,879 (GRCm39) |
I750F |
probably damaging |
Het |
Tcea1 |
G |
A |
1: 4,948,356 (GRCm39) |
|
probably null |
Het |
Ush2a |
A |
T |
1: 188,516,943 (GRCm39) |
M3218L |
probably benign |
Het |
Utp20 |
G |
A |
10: 88,607,715 (GRCm39) |
|
probably benign |
Het |
Zfp493 |
T |
A |
13: 67,935,089 (GRCm39) |
Y347* |
probably null |
Het |
Zswim6 |
T |
C |
13: 107,880,637 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |