Incidental Mutation 'IGL00791:Gsdmc'
| ID |
11158 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gsdmc
|
| Ensembl Gene |
ENSMUSG00000079025 |
| Gene Name |
gasdermin C |
| Synonyms |
Mlze, Gsdmc1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL00791
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
63647820-63680588 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 63676284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 53
(I53N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133683
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110125]
[ENSMUST00000173503]
|
| AlphaFold |
Q99NB5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110125
AA Change: I53N
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105752
Gene: ENSMUSG00000079025
AA Change: I53N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
444 |
6.2e-170 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173503
AA Change: I53N
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133683
Gene: ENSMUSG00000079025
AA Change: I53N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
435 |
9.6e-157 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap2 |
A |
T |
12: 21,289,649 (GRCm39) |
M519L |
possibly damaging |
Het |
| Bbs7 |
T |
C |
3: 36,629,436 (GRCm39) |
*674W |
probably null |
Het |
| Ceacam13 |
A |
G |
7: 17,747,278 (GRCm39) |
T244A |
possibly damaging |
Het |
| Cln8 |
T |
A |
8: 14,944,689 (GRCm39) |
M1K |
probably null |
Het |
| Cnot9 |
T |
C |
1: 74,561,533 (GRCm39) |
V126A |
probably benign |
Het |
| Enpep |
T |
C |
3: 129,125,731 (GRCm39) |
T134A |
possibly damaging |
Het |
| Fastkd5 |
C |
A |
2: 130,458,297 (GRCm39) |
A98S |
probably benign |
Het |
| Hexd |
A |
G |
11: 121,111,986 (GRCm39) |
S427G |
probably benign |
Het |
| Lrrk2 |
T |
G |
15: 91,664,044 (GRCm39) |
L1927R |
probably damaging |
Het |
| Mia2 |
A |
G |
12: 59,155,085 (GRCm39) |
E267G |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,057,137 (GRCm39) |
S4132P |
probably damaging |
Het |
| Rtn3 |
A |
G |
19: 7,412,434 (GRCm39) |
L780P |
probably damaging |
Het |
| Serpinb9c |
A |
T |
13: 33,335,867 (GRCm39) |
V195E |
probably damaging |
Het |
| Slit2 |
T |
C |
5: 48,461,374 (GRCm39) |
Y1474H |
possibly damaging |
Het |
| Taf15 |
A |
G |
11: 83,379,749 (GRCm39) |
|
probably null |
Het |
| Tbc1d17 |
A |
G |
7: 44,494,737 (GRCm39) |
S194P |
probably benign |
Het |
| Tbc1d2b |
T |
C |
9: 90,109,481 (GRCm39) |
S332G |
probably benign |
Het |
| Tmpo |
A |
T |
10: 90,998,420 (GRCm39) |
S456T |
possibly damaging |
Het |
| Tubgcp2 |
A |
G |
7: 139,581,411 (GRCm39) |
L608P |
probably damaging |
Het |
| Zfp39 |
T |
A |
11: 58,783,885 (GRCm39) |
|
probably benign |
Het |
| Zfp935 |
A |
C |
13: 62,602,278 (GRCm39) |
N307K |
probably benign |
Het |
|
| Other mutations in Gsdmc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Gsdmc
|
APN |
15 |
63,676,270 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01889:Gsdmc
|
APN |
15 |
63,651,852 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01917:Gsdmc
|
APN |
15 |
63,650,434 (GRCm39) |
missense |
probably benign |
|
|
IGL01948:Gsdmc
|
APN |
15 |
63,650,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02391:Gsdmc
|
APN |
15 |
63,675,428 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02479:Gsdmc
|
APN |
15 |
63,649,824 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02551:Gsdmc
|
APN |
15 |
63,673,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0115:Gsdmc
|
UTSW |
15 |
63,675,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1523:Gsdmc
|
UTSW |
15 |
63,675,479 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1655:Gsdmc
|
UTSW |
15 |
63,651,892 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1990:Gsdmc
|
UTSW |
15 |
63,673,748 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1991:Gsdmc
|
UTSW |
15 |
63,673,748 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2267:Gsdmc
|
UTSW |
15 |
63,648,647 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2882:Gsdmc
|
UTSW |
15 |
63,651,644 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2943:Gsdmc
|
UTSW |
15 |
63,675,501 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4110:Gsdmc
|
UTSW |
15 |
63,651,876 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4712:Gsdmc
|
UTSW |
15 |
63,651,386 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4963:Gsdmc
|
UTSW |
15 |
63,676,229 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4997:Gsdmc
|
UTSW |
15 |
63,648,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5032:Gsdmc
|
UTSW |
15 |
63,673,882 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5276:Gsdmc
|
UTSW |
15 |
63,673,806 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5346:Gsdmc
|
UTSW |
15 |
63,648,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5963:Gsdmc
|
UTSW |
15 |
63,651,965 (GRCm39) |
splice site |
probably null |
|
|
R5965:Gsdmc
|
UTSW |
15 |
63,676,447 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6872:Gsdmc
|
UTSW |
15 |
63,650,556 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7035:Gsdmc
|
UTSW |
15 |
63,650,569 (GRCm39) |
splice site |
probably null |
|
|
R7408:Gsdmc
|
UTSW |
15 |
63,676,315 (GRCm39) |
missense |
probably benign |
|
|
R7719:Gsdmc
|
UTSW |
15 |
63,650,813 (GRCm39) |
splice site |
probably null |
|
|
R7862:Gsdmc
|
UTSW |
15 |
63,649,845 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8528:Gsdmc
|
UTSW |
15 |
63,649,189 (GRCm39) |
splice site |
probably null |
|
|
R8697:Gsdmc
|
UTSW |
15 |
63,651,883 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9069:Gsdmc
|
UTSW |
15 |
63,649,902 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9253:Gsdmc
|
UTSW |
15 |
63,676,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9312:Gsdmc
|
UTSW |
15 |
63,649,806 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9385:Gsdmc
|
UTSW |
15 |
63,675,486 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9476:Gsdmc
|
UTSW |
15 |
63,650,551 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9511:Gsdmc
|
UTSW |
15 |
63,649,897 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Posted On |
2012-12-06 |
Incidental Mutation