Incidental Mutation 'R6698:Gsdmc3'
ID |
528663 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gsdmc3
|
Ensembl Gene |
ENSMUSG00000055827 |
Gene Name |
gasdermin C3 |
Synonyms |
9930109F21Rik |
MMRRC Submission |
044816-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R6698 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
63729573-63750407 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 63732120 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 302
(F302S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139472
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089894]
[ENSMUST00000185526]
[ENSMUST00000190682]
|
AlphaFold |
Q8CB12 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089894
AA Change: F302S
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000087339 Gene: ENSMUSG00000055827 AA Change: F302S
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
443 |
2.1e-154 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185526
AA Change: F302S
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000140272 Gene: ENSMUSG00000055827 AA Change: F302S
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190682
AA Change: F302S
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000139472 Gene: ENSMUSG00000055827 AA Change: F302S
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
Validation Efficiency |
95% (40/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Brca2 |
T |
C |
5: 150,455,859 (GRCm39) |
V200A |
probably damaging |
Het |
Camk2g |
T |
A |
14: 20,792,776 (GRCm39) |
K393* |
probably null |
Het |
Catsperb |
T |
A |
12: 101,475,466 (GRCm39) |
F337I |
probably damaging |
Het |
Cdk17 |
T |
C |
10: 93,064,540 (GRCm39) |
Y270H |
probably damaging |
Het |
Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
Col6a5 |
T |
A |
9: 105,811,374 (GRCm39) |
N715I |
unknown |
Het |
Fancg |
A |
G |
4: 43,007,034 (GRCm39) |
S248P |
probably benign |
Het |
Flvcr1 |
T |
C |
1: 190,757,929 (GRCm39) |
Y79C |
probably damaging |
Het |
Gabrp |
A |
G |
11: 33,507,017 (GRCm39) |
S198P |
probably damaging |
Het |
Gask1b |
A |
G |
3: 79,843,902 (GRCm39) |
I10V |
probably damaging |
Het |
Glp1r |
A |
G |
17: 31,155,375 (GRCm39) |
Y454C |
probably damaging |
Het |
Gpr158 |
A |
C |
2: 21,831,921 (GRCm39) |
D1007A |
probably damaging |
Het |
Gsdmc4 |
T |
A |
15: 63,765,613 (GRCm39) |
D312V |
probably benign |
Het |
Itga5 |
T |
C |
15: 103,259,808 (GRCm39) |
Y663C |
probably benign |
Het |
Kif1b |
A |
T |
4: 149,359,413 (GRCm39) |
M108K |
probably damaging |
Het |
Klf11 |
T |
G |
12: 24,703,618 (GRCm39) |
S18A |
probably damaging |
Het |
Lmtk2 |
T |
C |
5: 144,111,737 (GRCm39) |
V819A |
probably benign |
Het |
Lrba |
A |
G |
3: 86,211,732 (GRCm39) |
M451V |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,192,958 (GRCm39) |
D488G |
probably damaging |
Het |
Mark4 |
T |
C |
7: 19,163,362 (GRCm39) |
N589S |
probably benign |
Het |
Mis12 |
T |
C |
11: 70,916,012 (GRCm39) |
F15S |
probably damaging |
Het |
Nif3l1 |
A |
G |
1: 58,489,648 (GRCm39) |
D179G |
probably benign |
Het |
Nlrx1 |
A |
G |
9: 44,177,104 (GRCm39) |
W3R |
probably damaging |
Het |
Nup210l |
G |
A |
3: 90,089,815 (GRCm39) |
S1194N |
possibly damaging |
Het |
Or13m2-ps1 |
A |
T |
6: 42,778,136 (GRCm39) |
T154S |
probably benign |
Het |
Or5d20-ps1 |
A |
G |
2: 87,931,561 (GRCm39) |
F257L |
unknown |
Het |
Pnkd |
T |
A |
1: 74,389,836 (GRCm39) |
L320Q |
probably damaging |
Het |
Prkn |
A |
G |
17: 11,286,183 (GRCm39) |
|
probably null |
Het |
Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Homo |
Rilpl2 |
C |
T |
5: 124,607,843 (GRCm39) |
E126K |
probably damaging |
Het |
Rpn2 |
T |
C |
2: 157,139,330 (GRCm39) |
I208T |
possibly damaging |
Het |
Skint4 |
G |
T |
4: 111,977,096 (GRCm39) |
C170F |
probably damaging |
Het |
Synj1 |
C |
G |
16: 90,757,340 (GRCm39) |
V877L |
probably damaging |
Het |
Tcp11 |
A |
T |
17: 28,290,804 (GRCm39) |
I106N |
possibly damaging |
Het |
Tg |
A |
G |
15: 66,711,211 (GRCm39) |
Y991C |
probably damaging |
Het |
Trib3 |
A |
G |
2: 152,180,339 (GRCm39) |
S285P |
probably damaging |
Het |
Wdr49 |
A |
T |
3: 75,336,673 (GRCm39) |
W345R |
probably benign |
Het |
Wnt5a |
A |
G |
14: 28,240,420 (GRCm39) |
Y190C |
possibly damaging |
Het |
Xpo1 |
A |
G |
11: 23,244,040 (GRCm39) |
E955G |
probably benign |
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 |
|
R1298:Gsdmc3
|
UTSW |
15 |
63,732,130 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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'- AGCTGAAATCCCCACCTTTGAC -3'
(R):5'- TCAAGCAGGCTGTCAATTGAG -3'
Sequencing Primer
(F):5'- GACATCTTTCTCAGTGTCGTCAG -3'
(R):5'- GGCTGTCAATTGAGACATTTTTAGC -3'
|
Posted On |
2018-07-24 |