Incidental Mutation 'IGL03053:Cgas'
| ID |
409141 |
| 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 # |
IGL03053
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
78337808-78350519 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78344719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 234
(F234Y)
|
| 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: F234Y
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000034898
Gene: ENSMUSG00000032344
AA Change: F234Y
| 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: F234Y
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000063331
Gene: ENSMUSG00000032344
AA Change: F234Y
| 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 |
unknown
Transcript: ENSMUST00000127190
AA Change: F169Y
|
| SMART Domains |
Protein: ENSMUSP00000114277
Gene: ENSMUSG00000032344
AA Change: F169Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
84 |
99 |
N/A |
INTRINSIC |
|
Pfam:Mab-21
|
136 |
229 |
6.8e-16 |
PFAM |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
G |
A |
4: 106,613,050 (GRCm39) |
Q342* |
probably null |
Het |
| Arglu1 |
T |
A |
8: 8,733,960 (GRCm39) |
I119L |
probably benign |
Het |
| Atp1a2 |
G |
A |
1: 172,105,923 (GRCm39) |
T914I |
probably damaging |
Het |
| Birc6 |
C |
T |
17: 74,872,967 (GRCm39) |
R409C |
probably damaging |
Het |
| Brwd1 |
A |
T |
16: 95,818,877 (GRCm39) |
S1318R |
possibly damaging |
Het |
| C1qtnf12 |
A |
T |
4: 156,050,921 (GRCm39) |
N297Y |
probably damaging |
Het |
| Cyp2a4 |
A |
T |
7: 26,012,975 (GRCm39) |
|
probably benign |
Het |
| Cyp2j7 |
C |
T |
4: 96,118,274 (GRCm39) |
M106I |
probably benign |
Het |
| Dis3 |
A |
G |
14: 99,336,170 (GRCm39) |
V112A |
probably benign |
Het |
| Ehd3 |
A |
G |
17: 74,112,437 (GRCm39) |
Y67C |
probably damaging |
Het |
| Elavl4 |
A |
T |
4: 110,108,691 (GRCm39) |
S16T |
possibly damaging |
Het |
| F2rl1 |
A |
C |
13: 95,650,126 (GRCm39) |
V252G |
probably benign |
Het |
| Fggy |
A |
T |
4: 95,815,046 (GRCm39) |
|
probably benign |
Het |
| Hc |
G |
T |
2: 34,914,210 (GRCm39) |
N832K |
probably benign |
Het |
| Hnf1a |
T |
A |
5: 115,108,792 (GRCm39) |
M38L |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,905,564 (GRCm39) |
N793S |
probably benign |
Het |
| Kit |
A |
G |
5: 75,771,574 (GRCm39) |
N244D |
probably benign |
Het |
| Mgat5b |
A |
G |
11: 116,814,276 (GRCm39) |
E60G |
possibly damaging |
Het |
| Obsl1 |
T |
C |
1: 75,469,723 (GRCm39) |
H1098R |
probably benign |
Het |
| Or2l13 |
A |
T |
16: 19,305,969 (GRCm39) |
H127L |
probably benign |
Het |
| Or2n1e |
A |
C |
17: 38,585,682 (GRCm39) |
S7R |
probably damaging |
Het |
| Or4c123 |
A |
C |
2: 89,126,789 (GRCm39) |
I275S |
probably damaging |
Het |
| Or4p7 |
A |
G |
2: 88,221,938 (GRCm39) |
M116V |
probably damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,610 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5t9 |
A |
G |
2: 86,659,607 (GRCm39) |
I170M |
possibly damaging |
Het |
| Or6d15 |
T |
C |
6: 116,559,206 (GRCm39) |
R234G |
possibly damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,281,664 (GRCm39) |
I42T |
probably damaging |
Het |
| Prkd2 |
A |
G |
7: 16,584,188 (GRCm39) |
D347G |
possibly damaging |
Het |
| Prkdc |
A |
G |
16: 15,652,030 (GRCm39) |
I3806V |
probably benign |
Het |
| Rasgrp2 |
T |
C |
19: 6,457,362 (GRCm39) |
|
probably benign |
Het |
| Rc3h1 |
T |
A |
1: 160,783,387 (GRCm39) |
D734E |
probably benign |
Het |
| Rtel1 |
A |
G |
2: 180,993,737 (GRCm39) |
K619E |
probably benign |
Het |
| Tnfrsf26 |
T |
C |
7: 143,168,597 (GRCm39) |
D147G |
possibly damaging |
Het |
| Ufl1 |
A |
G |
4: 25,275,833 (GRCm39) |
I110T |
probably damaging |
Het |
| Ugt2b36 |
A |
G |
5: 87,239,933 (GRCm39) |
S151P |
possibly damaging |
Het |
| Vmn2r25 |
T |
C |
6: 123,800,077 (GRCm39) |
Y755C |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,673,132 (GRCm39) |
V1394A |
probably damaging |
Het |
| Zng1 |
T |
A |
19: 24,932,741 (GRCm39) |
E97D |
probably damaging |
Het |
| Zzef1 |
G |
T |
11: 72,722,365 (GRCm39) |
|
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation