Incidental Mutation 'IGL01125:Gsdmc3'
| ID |
52832 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gsdmc3
|
| Ensembl Gene |
ENSMUSG00000055827 |
| Gene Name |
gasdermin C3 |
| Synonyms |
9930109F21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL01125
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
63729573-63750407 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 63733306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 258
(D258V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089894]
[ENSMUST00000185526]
[ENSMUST00000190682]
|
| AlphaFold |
Q8CB12 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089894
AA Change: D258V
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827
AA Change: D258V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
2.1e-154 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185526
AA Change: D258V
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000140272
Gene: ENSMUSG00000055827
AA Change: D258V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190682
AA Change: D258V
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827
AA Change: D258V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg2 |
C |
T |
X: 159,275,704 (GRCm39) |
T931I |
probably damaging |
Het |
| Atp5mc3 |
A |
G |
2: 73,741,293 (GRCm39) |
|
probably benign |
Het |
| Btd |
T |
A |
14: 31,389,733 (GRCm39) |
F485I |
probably benign |
Het |
| Camk2d |
A |
G |
3: 126,591,934 (GRCm39) |
|
probably benign |
Het |
| Cd300lg |
A |
T |
11: 101,945,047 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
A |
G |
1: 24,263,726 (GRCm39) |
|
probably null |
Het |
| Cybb |
T |
A |
X: 9,312,983 (GRCm39) |
N367I |
possibly damaging |
Het |
| Dcaf17 |
T |
C |
2: 70,920,149 (GRCm39) |
V479A |
probably benign |
Het |
| Dscaml1 |
G |
T |
9: 45,660,930 (GRCm39) |
|
probably null |
Het |
| Espl1 |
T |
C |
15: 102,231,373 (GRCm39) |
F51S |
probably damaging |
Het |
| Gvin-ps3 |
A |
T |
7: 105,682,021 (GRCm39) |
N411K |
unknown |
Het |
| Ifngr1 |
C |
T |
10: 19,473,161 (GRCm39) |
|
probably benign |
Het |
| Kcnip1 |
A |
T |
11: 33,583,202 (GRCm39) |
D194E |
probably damaging |
Het |
| Lrrtm1 |
C |
T |
6: 77,221,436 (GRCm39) |
R298C |
probably damaging |
Het |
| Map3k4 |
G |
A |
17: 12,490,849 (GRCm39) |
S194L |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,066 (GRCm39) |
K481E |
possibly damaging |
Het |
| Myh1 |
A |
T |
11: 67,111,486 (GRCm39) |
M1642L |
probably benign |
Het |
| Nol9 |
G |
T |
4: 152,131,066 (GRCm39) |
C363F |
probably damaging |
Het |
| Nsd1 |
T |
C |
13: 55,393,430 (GRCm39) |
S344P |
probably damaging |
Het |
| Or52e5 |
A |
T |
7: 104,718,808 (GRCm39) |
I45F |
probably benign |
Het |
| Phf20 |
G |
A |
2: 156,145,104 (GRCm39) |
|
probably null |
Het |
| Ppp3cc |
G |
T |
14: 70,455,701 (GRCm39) |
H467Q |
probably damaging |
Het |
| Rab28 |
A |
G |
5: 41,793,237 (GRCm39) |
M136T |
probably benign |
Het |
| Rag1 |
A |
G |
2: 101,472,346 (GRCm39) |
I932T |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,868,115 (GRCm39) |
|
probably benign |
Het |
| Slc49a3 |
A |
G |
5: 108,592,458 (GRCm39) |
|
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,216,639 (GRCm39) |
T647A |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,469,822 (GRCm39) |
C4507S |
probably damaging |
Het |
| Traf3ip3 |
T |
C |
1: 192,866,772 (GRCm39) |
|
probably null |
Het |
| Vmn2r121 |
T |
A |
X: 123,042,504 (GRCm39) |
I218F |
probably damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,909,550 (GRCm39) |
Y25C |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation