Incidental Mutation 'IGL00849:Cgas'
| ID |
278008 |
| 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 # |
IGL00849
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankdd1b |
C |
A |
13: 96,557,241 (GRCm39) |
E397D |
probably damaging |
Het |
| Arhgdia |
C |
A |
11: 120,471,065 (GRCm39) |
D45Y |
probably damaging |
Het |
| Dbn1 |
G |
T |
13: 55,630,002 (GRCm39) |
R147S |
probably damaging |
Het |
| Dip2a |
A |
T |
10: 76,128,152 (GRCm39) |
I36N |
probably damaging |
Het |
| Elmo1 |
A |
T |
13: 20,766,493 (GRCm39) |
K607* |
probably null |
Het |
| Epha6 |
T |
G |
16: 60,245,474 (GRCm39) |
I242L |
possibly damaging |
Het |
| Epha7 |
A |
G |
4: 28,870,662 (GRCm39) |
E313G |
possibly damaging |
Het |
| Frmd4b |
T |
A |
6: 97,285,021 (GRCm39) |
I347F |
probably damaging |
Het |
| Gucy2c |
T |
C |
6: 136,742,612 (GRCm39) |
K242R |
probably benign |
Het |
| Kif1c |
G |
T |
11: 70,596,953 (GRCm39) |
L313F |
probably damaging |
Het |
| Ncoa6 |
T |
A |
2: 155,263,608 (GRCm39) |
Q275H |
possibly damaging |
Het |
| Phf20l1 |
C |
A |
15: 66,508,681 (GRCm39) |
P820T |
probably benign |
Het |
| Robo2 |
T |
C |
16: 73,770,665 (GRCm39) |
T487A |
possibly damaging |
Het |
| Ryr2 |
G |
T |
13: 11,600,364 (GRCm39) |
L4614I |
possibly damaging |
Het |
| Tbx19 |
T |
A |
1: 164,979,609 (GRCm39) |
T187S |
probably benign |
Het |
| Tomm70a |
T |
C |
16: 56,970,173 (GRCm39) |
|
probably benign |
Het |
| Tsnaxip1 |
G |
T |
8: 106,568,800 (GRCm39) |
D430Y |
probably damaging |
Het |
| Uvssa |
G |
T |
5: 33,566,192 (GRCm39) |
G445V |
probably benign |
Het |
| Zfp628 |
C |
A |
7: 4,923,805 (GRCm39) |
L676I |
probably damaging |
Het |
| Zfp871 |
A |
G |
17: 32,994,873 (GRCm39) |
Y101H |
probably benign |
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 |
|
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 |
Incidental Mutation