Incidental Mutation 'R1298:Gsdmc3'
| ID |
158231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsdmc3
|
| Ensembl Gene |
ENSMUSG00000055827 |
| Gene Name |
gasdermin C3 |
| Synonyms |
9930109F21Rik |
| MMRRC Submission |
039364-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R1298 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
63729573-63750407 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 63732130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 299
(L299M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089894]
[ENSMUST00000185526]
[ENSMUST00000190682]
|
| AlphaFold |
Q8CB12 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089894
AA Change: L299M
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827
AA Change: L299M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
2.1e-154 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185526
AA Change: L299M
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140272
Gene: ENSMUSG00000055827
AA Change: L299M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190682
AA Change: L299M
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827
AA Change: L299M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.1%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
A |
G |
6: 116,404,225 (GRCm39) |
W145R |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,385,157 (GRCm39) |
V267D |
probably benign |
Het |
| Bbs4 |
A |
T |
9: 59,247,096 (GRCm39) |
W135R |
probably damaging |
Het |
| Cavin4 |
T |
C |
4: 48,672,593 (GRCm39) |
V346A |
probably benign |
Het |
| Cdk18 |
A |
C |
1: 132,050,189 (GRCm39) |
|
probably benign |
Het |
| Cyp2j11 |
C |
T |
4: 96,195,497 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,136,118 (GRCm39) |
I1007K |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,852,752 (GRCm39) |
E118G |
probably benign |
Het |
| Eef2 |
C |
CN |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Eif1ad5 |
T |
A |
12: 87,946,853 (GRCm39) |
D98E |
probably benign |
Het |
| Gm14496 |
T |
C |
2: 181,637,885 (GRCm39) |
F320L |
probably benign |
Het |
| H6pd |
T |
C |
4: 150,066,971 (GRCm39) |
I472V |
probably benign |
Het |
| Hao2 |
G |
T |
3: 98,790,985 (GRCm39) |
T63K |
possibly damaging |
Het |
| Jag2 |
C |
T |
12: 112,879,939 (GRCm39) |
|
probably benign |
Het |
| Mapre3 |
A |
G |
5: 31,022,211 (GRCm39) |
Y211C |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,393,334 (GRCm39) |
S2966P |
probably damaging |
Het |
| Nsd3 |
T |
A |
8: 26,169,952 (GRCm39) |
V696E |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,945,723 (GRCm39) |
Y4163H |
possibly damaging |
Het |
| Or11h4b |
A |
T |
14: 50,918,337 (GRCm39) |
Y251* |
probably null |
Het |
| Or12e8 |
G |
A |
2: 87,188,414 (GRCm39) |
A209T |
probably benign |
Het |
| Or6c3 |
G |
T |
10: 129,308,933 (GRCm39) |
C124F |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,156,409 (GRCm39) |
E607G |
probably benign |
Het |
| Pinlyp |
T |
A |
7: 24,244,391 (GRCm39) |
D51V |
probably damaging |
Het |
| Rcbtb2 |
T |
A |
14: 73,399,828 (GRCm39) |
I87N |
probably damaging |
Het |
| Sfswap |
A |
G |
5: 129,618,442 (GRCm39) |
I459V |
probably benign |
Het |
| Slitrk6 |
T |
C |
14: 110,989,297 (GRCm39) |
N137D |
possibly damaging |
Het |
| Smg1 |
A |
T |
7: 117,767,434 (GRCm39) |
|
probably benign |
Het |
| Sobp |
T |
A |
10: 42,898,331 (GRCm39) |
H418L |
probably damaging |
Het |
| Spock1 |
A |
C |
13: 57,660,563 (GRCm39) |
D180E |
probably benign |
Het |
| Upk3a |
G |
A |
15: 84,904,752 (GRCm39) |
V167I |
probably benign |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,572 (GRCm39) |
V245A |
possibly damaging |
Het |
| Zbtb25 |
T |
C |
12: 76,396,775 (GRCm39) |
E149G |
probably benign |
Het |
| Zgrf1 |
T |
C |
3: 127,377,538 (GRCm39) |
C44R |
possibly damaging |
Het |
|
| Other mutations in Gsdmc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00490:Gsdmc3
|
APN |
15 |
63,731,526 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01125:Gsdmc3
|
APN |
15 |
63,733,306 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0490:Gsdmc3
|
UTSW |
15 |
63,732,099 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0620:Gsdmc3
|
UTSW |
15 |
63,731,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0932:Gsdmc3
|
UTSW |
15 |
63,730,400 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1378:Gsdmc3
|
UTSW |
15 |
63,731,435 (GRCm39) |
splice site |
probably benign |
|
|
R1815:Gsdmc3
|
UTSW |
15 |
63,740,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Gsdmc3
|
UTSW |
15 |
63,730,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Gsdmc3
|
UTSW |
15 |
63,730,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2088:Gsdmc3
|
UTSW |
15 |
63,732,063 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2090:Gsdmc3
|
UTSW |
15 |
63,738,631 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2126:Gsdmc3
|
UTSW |
15 |
63,730,383 (GRCm39) |
nonsense |
probably null |
|
|
R2276:Gsdmc3
|
UTSW |
15 |
63,732,105 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4412:Gsdmc3
|
UTSW |
15 |
63,738,645 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4913:Gsdmc3
|
UTSW |
15 |
63,730,122 (GRCm39) |
makesense |
probably null |
|
|
R5241:Gsdmc3
|
UTSW |
15 |
63,735,995 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6016:Gsdmc3
|
UTSW |
15 |
63,740,261 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6026:Gsdmc3
|
UTSW |
15 |
63,738,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6291:Gsdmc3
|
UTSW |
15 |
63,732,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6698:Gsdmc3
|
UTSW |
15 |
63,732,120 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7316:Gsdmc3
|
UTSW |
15 |
63,730,251 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7566:Gsdmc3
|
UTSW |
15 |
63,733,510 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7717:Gsdmc3
|
UTSW |
15 |
63,741,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8978:Gsdmc3
|
UTSW |
15 |
63,731,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9104:Gsdmc3
|
UTSW |
15 |
63,730,941 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9417:Gsdmc3
|
UTSW |
15 |
63,738,663 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATGGAGCTGAAATCCCCAC -3'
(R):5'- CCGTTACCAGAGCCCAACAGTATG -3'
Sequencing Primer
(F):5'- GAGCTGAAATCCCCACCTTTG -3'
(R):5'- CAGAGCCCAACAGTATGTTTCATTC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation