Incidental Mutation 'R6951:Cgas'
| ID |
541276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cgas
|
| Ensembl Gene |
ENSMUSG00000032344 |
| Gene Name |
cyclic GMP-AMP synthase |
| Synonyms |
Mb21d1, E330016A19Rik |
| MMRRC Submission |
045063-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R6951 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
78337808-78350519 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78349840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 174
(V174A)
|
| 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: V174A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034898
Gene: ENSMUSG00000032344
AA Change: V174A
| 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: V174A
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000063331
Gene: ENSMUSG00000032344
AA Change: V174A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000114277
Gene: ENSMUSG00000032344
AA Change: V109A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
84 |
99 |
N/A |
INTRINSIC |
|
Pfam:Mab-21
|
136 |
229 |
6.8e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.4940 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.0%
|
| Validation Efficiency |
100% (42/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd34a |
A |
G |
3: 96,505,738 (GRCm39) |
N314S |
possibly damaging |
Het |
| Arhgef3 |
A |
T |
14: 26,865,975 (GRCm39) |
|
probably benign |
Het |
| Bmp1 |
T |
C |
14: 70,746,298 (GRCm39) |
R114G |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,385,989 (GRCm39) |
L2097P |
probably damaging |
Het |
| Dapk2 |
C |
G |
9: 66,161,904 (GRCm39) |
R271G |
probably benign |
Het |
| Dnase2a |
A |
T |
8: 85,636,254 (GRCm39) |
N130I |
possibly damaging |
Het |
| Dpp10 |
C |
T |
1: 123,269,379 (GRCm39) |
V677M |
possibly damaging |
Het |
| Dsp |
G |
A |
13: 38,351,622 (GRCm39) |
C147Y |
possibly damaging |
Het |
| Ecpas |
A |
G |
4: 58,853,114 (GRCm39) |
|
probably null |
Het |
| Esyt2 |
A |
G |
12: 116,287,750 (GRCm39) |
T223A |
probably benign |
Het |
| Fndc5 |
G |
A |
4: 129,032,573 (GRCm39) |
V59I |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,812,293 (GRCm39) |
T2871A |
possibly damaging |
Het |
| H2-Eb1 |
A |
T |
17: 34,528,831 (GRCm39) |
R121* |
probably null |
Het |
| Hydin |
A |
G |
8: 111,124,757 (GRCm39) |
I589V |
probably benign |
Het |
| Kitl |
A |
G |
10: 99,887,714 (GRCm39) |
I48V |
probably damaging |
Het |
| Large1 |
A |
G |
8: 73,843,047 (GRCm39) |
S159P |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,653,180 (GRCm39) |
L2570P |
probably benign |
Het |
| Mag |
G |
A |
7: 30,610,858 (GRCm39) |
T128I |
possibly damaging |
Het |
| Mkrn3 |
G |
T |
7: 62,068,881 (GRCm39) |
D303E |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,802,051 (GRCm39) |
D1951G |
probably damaging |
Het |
| Nup85 |
C |
T |
11: 115,473,781 (GRCm39) |
T565I |
possibly damaging |
Het |
| Or5l13 |
T |
C |
2: 87,780,323 (GRCm39) |
I85V |
possibly damaging |
Het |
| Or8b1d |
A |
G |
9: 38,558,170 (GRCm39) |
S217P |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,234 (GRCm39) |
D22G |
probably benign |
Het |
| Or8k31-ps1 |
T |
C |
2: 86,355,993 (GRCm39) |
H176R |
probably damaging |
Het |
| Pdzrn3 |
A |
T |
6: 101,131,153 (GRCm39) |
|
probably null |
Het |
| Picalm |
T |
A |
7: 89,840,583 (GRCm39) |
N434K |
probably damaging |
Het |
| Platr25 |
A |
C |
13: 62,853,562 (GRCm39) |
D77E |
probably benign |
Het |
| Prr22 |
A |
T |
17: 57,079,028 (GRCm39) |
R394* |
probably null |
Het |
| Psg23 |
A |
T |
7: 18,348,636 (GRCm39) |
L57Q |
probably damaging |
Het |
| Rap1gap2 |
G |
A |
11: 74,375,774 (GRCm39) |
S44L |
possibly damaging |
Het |
| Rffl |
A |
G |
11: 82,736,576 (GRCm39) |
|
probably null |
Het |
| Stox2 |
G |
A |
8: 47,656,167 (GRCm39) |
T103I |
probably damaging |
Het |
| Swt1 |
T |
C |
1: 151,273,019 (GRCm39) |
N543S |
possibly damaging |
Het |
| Tep1 |
C |
T |
14: 51,071,370 (GRCm39) |
|
probably null |
Het |
| Tln2 |
A |
G |
9: 67,165,767 (GRCm39) |
Y1023H |
probably damaging |
Het |
| Tssk5 |
C |
A |
15: 76,257,096 (GRCm39) |
R262L |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,710,986 (GRCm39) |
|
probably benign |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,873 (GRCm39) |
I134F |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,687,670 (GRCm39) |
F2351S |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,701,104 (GRCm39) |
D688E |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACTGGGGTGTTCCAAGG -3'
(R):5'- TGAGCTCACCAAAGATGCAC -3'
Sequencing Primer
(F):5'- GGGCCCTAAGAGTGTGGGAC -3'
(R):5'- AAGATGCACAGCCCTCGG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation