Incidental Mutation 'IGL00490:Gsdmc3'
| ID |
5834 |
| 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 # |
IGL00490
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
63729573-63750407 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 63731526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 335
(K335N)
|
| 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: K335N
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827
AA Change: K335N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
2.1e-154 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185526
AA Change: K335N
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000140272
Gene: ENSMUSG00000055827
AA Change: K335N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190682
AA Change: K335N
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827
AA Change: K335N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190937
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
A |
G |
4: 129,905,665 (GRCm39) |
E837G |
possibly damaging |
Het |
| Atp13a3 |
A |
G |
16: 30,171,172 (GRCm39) |
M291T |
probably benign |
Het |
| Coq8b |
C |
A |
7: 26,956,902 (GRCm39) |
H518Q |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,962,067 (GRCm39) |
D388G |
probably damaging |
Het |
| Cyp2d10 |
A |
T |
15: 82,287,515 (GRCm39) |
S244T |
possibly damaging |
Het |
| Ddr2 |
A |
T |
1: 169,832,763 (GRCm39) |
L99H |
probably damaging |
Het |
| Dennd1a |
G |
T |
2: 37,691,164 (GRCm39) |
D251E |
probably damaging |
Het |
| Fam210a |
G |
T |
18: 68,401,983 (GRCm39) |
T210N |
probably damaging |
Het |
| Gigyf2 |
C |
A |
1: 87,364,572 (GRCm39) |
Q951K |
probably damaging |
Het |
| Gramd1b |
T |
A |
9: 40,221,337 (GRCm39) |
I280F |
probably damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,518,770 (GRCm39) |
T993S |
possibly damaging |
Het |
| Mfsd6 |
A |
G |
1: 52,747,413 (GRCm39) |
L484P |
probably damaging |
Het |
| Myt1l |
T |
A |
12: 29,877,423 (GRCm39) |
V358E |
unknown |
Het |
| Mzt1 |
A |
G |
14: 99,278,106 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
C |
A |
19: 6,523,623 (GRCm39) |
H514Q |
possibly damaging |
Het |
| Nup214 |
G |
A |
2: 31,923,991 (GRCm39) |
E2K |
probably damaging |
Het |
| Pcdhb4 |
G |
T |
18: 37,442,969 (GRCm39) |
G760W |
possibly damaging |
Het |
| Ptger2 |
T |
C |
14: 45,239,198 (GRCm39) |
|
probably benign |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Smcr8 |
T |
A |
11: 60,669,458 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
T |
15: 9,740,621 (GRCm39) |
D46E |
probably damaging |
Het |
| Tbc1d32 |
G |
A |
10: 56,031,861 (GRCm39) |
P689L |
probably damaging |
Het |
| Tep1 |
C |
A |
14: 51,070,930 (GRCm39) |
W2123L |
probably damaging |
Het |
| Thg1l |
T |
C |
11: 45,845,048 (GRCm39) |
E8G |
probably benign |
Het |
| Tmem236 |
A |
G |
2: 14,224,189 (GRCm39) |
Y326C |
probably damaging |
Het |
| Trip4 |
C |
T |
9: 65,740,692 (GRCm39) |
G573R |
probably damaging |
Het |
| Trrap |
C |
T |
5: 144,762,035 (GRCm39) |
T2320I |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,816 (GRCm39) |
N435S |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,921,858 (GRCm39) |
N77D |
probably damaging |
Het |
| Uvrag |
A |
T |
7: 98,628,948 (GRCm39) |
I373N |
probably damaging |
Het |
|
| Other mutations in Gsdmc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation