Incidental Mutation 'IGL00737:Cgas'
| ID |
277867 |
| 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: 0.179)
|
| Stock # |
IGL00737
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,087,823 (GRCm39) |
|
probably benign |
Het |
| AI597479 |
T |
G |
1: 43,140,018 (GRCm39) |
H81Q |
probably benign |
Het |
| Alcam |
A |
T |
16: 52,073,543 (GRCm39) |
L561Q |
unknown |
Het |
| Cd8a |
T |
C |
6: 71,350,691 (GRCm39) |
V52A |
probably benign |
Het |
| Cpsf2 |
T |
C |
12: 101,949,725 (GRCm39) |
V119A |
probably damaging |
Het |
| Cry1 |
T |
C |
10: 84,978,904 (GRCm39) |
N541D |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,160,340 (GRCm39) |
T1748A |
probably benign |
Het |
| Kifap3 |
A |
T |
1: 163,624,839 (GRCm39) |
I132F |
probably damaging |
Het |
| Lcor |
A |
G |
19: 41,541,139 (GRCm39) |
T68A |
probably damaging |
Het |
| Lpcat2 |
A |
G |
8: 93,635,834 (GRCm39) |
D372G |
probably damaging |
Het |
| Mrpl30 |
G |
A |
1: 37,934,457 (GRCm39) |
R33H |
probably benign |
Het |
| Ncstn |
A |
G |
1: 171,901,968 (GRCm39) |
Y151H |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,821,620 (GRCm39) |
T2A |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,428,547 (GRCm39) |
|
probably benign |
Het |
| Pum2 |
A |
G |
12: 8,783,381 (GRCm39) |
Y610C |
probably damaging |
Het |
| Rabl6 |
T |
C |
2: 25,474,132 (GRCm39) |
|
probably benign |
Het |
| Wdr33 |
T |
A |
18: 32,011,169 (GRCm39) |
W273R |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,185,368 (GRCm39) |
N855S |
probably damaging |
Het |
| Wipi2 |
T |
A |
5: 142,652,625 (GRCm39) |
D412E |
probably benign |
Het |
| Zfp28 |
T |
C |
7: 6,396,429 (GRCm39) |
*56Q |
probably null |
Het |
| Zfyve16 |
T |
A |
13: 92,657,626 (GRCm39) |
K762* |
probably null |
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 |
|
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 |
Incidental Mutation