Incidental Mutation 'IGL02391:Gsdmc'
ID |
293839 |
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 # |
IGL02391
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
63647820-63680588 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 63675428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 129
(N129S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105752
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110125]
[ENSMUST00000173503]
|
AlphaFold |
Q99NB5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110125
AA Change: N129S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105752 Gene: ENSMUSG00000079025 AA Change: N129S
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
444 |
6.2e-170 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173503
AA Change: N129S
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000133683 Gene: ENSMUSG00000079025 AA Change: N129S
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
T |
A |
14: 118,790,764 (GRCm39) |
N748Y |
probably damaging |
Het |
Actbl2 |
A |
G |
13: 111,391,701 (GRCm39) |
D12G |
possibly damaging |
Het |
Adamts10 |
T |
C |
17: 33,747,785 (GRCm39) |
S74P |
probably benign |
Het |
Adprs |
C |
T |
4: 126,211,701 (GRCm39) |
|
probably benign |
Het |
Amn1 |
A |
G |
6: 149,070,944 (GRCm39) |
|
probably null |
Het |
Antxr1 |
A |
T |
6: 87,264,038 (GRCm39) |
I144N |
probably damaging |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Cabp5 |
A |
T |
7: 13,132,269 (GRCm39) |
R13* |
probably null |
Het |
Cacna1e |
A |
G |
1: 154,296,859 (GRCm39) |
Y1669H |
probably damaging |
Het |
Ccdc174 |
A |
G |
6: 91,875,263 (GRCm39) |
E364G |
possibly damaging |
Het |
Ccdc18 |
C |
T |
5: 108,283,918 (GRCm39) |
P74S |
probably damaging |
Het |
Clec3a |
C |
T |
8: 115,152,240 (GRCm39) |
S82L |
probably benign |
Het |
Cnih3 |
A |
G |
1: 181,234,078 (GRCm39) |
D43G |
probably damaging |
Het |
Dpp10 |
G |
A |
1: 123,578,087 (GRCm39) |
T128M |
probably damaging |
Het |
Edar |
A |
T |
10: 58,464,403 (GRCm39) |
F79I |
probably damaging |
Het |
Eif2ak4 |
T |
A |
2: 118,251,272 (GRCm39) |
H199Q |
probably benign |
Het |
Fermt1 |
A |
G |
2: 132,783,871 (GRCm39) |
L46P |
probably damaging |
Het |
Glipr1 |
A |
G |
10: 111,824,799 (GRCm39) |
|
probably benign |
Het |
Ift88 |
T |
C |
14: 57,718,871 (GRCm39) |
S619P |
possibly damaging |
Het |
Itga9 |
T |
A |
9: 118,679,873 (GRCm39) |
V262E |
probably benign |
Het |
Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
Mta1 |
T |
A |
12: 113,100,203 (GRCm39) |
I688N |
possibly damaging |
Het |
Muc4 |
A |
T |
16: 32,570,894 (GRCm39) |
R651S |
probably benign |
Het |
Opcml |
A |
G |
9: 28,586,560 (GRCm39) |
I93V |
probably damaging |
Het |
Or12d17 |
C |
T |
17: 37,777,477 (GRCm39) |
P127S |
probably damaging |
Het |
Or13p4 |
A |
G |
4: 118,547,538 (GRCm39) |
L37P |
probably damaging |
Het |
Or9r7 |
A |
G |
10: 129,962,773 (GRCm39) |
V51A |
possibly damaging |
Het |
Parg |
T |
G |
14: 31,984,638 (GRCm39) |
|
probably null |
Het |
Rps3a3 |
A |
G |
13: 108,807,417 (GRCm39) |
|
probably benign |
Het |
Safb |
T |
A |
17: 56,907,813 (GRCm39) |
|
probably benign |
Het |
Sat2 |
G |
T |
11: 69,513,575 (GRCm39) |
C54F |
probably damaging |
Het |
Scin |
T |
A |
12: 40,127,530 (GRCm39) |
Y420F |
probably benign |
Het |
Slc22a29 |
A |
T |
19: 8,146,717 (GRCm39) |
S362T |
probably benign |
Het |
Smchd1 |
T |
C |
17: 71,738,254 (GRCm39) |
D537G |
probably null |
Het |
Spred3 |
A |
G |
7: 28,865,830 (GRCm39) |
S126P |
probably benign |
Het |
Ssh1 |
C |
T |
5: 114,080,578 (GRCm39) |
E951K |
probably damaging |
Het |
Ssmem1 |
A |
G |
6: 30,512,441 (GRCm39) |
E28G |
possibly damaging |
Het |
Stox1 |
A |
T |
10: 62,495,455 (GRCm39) |
|
probably benign |
Het |
Syn3 |
T |
C |
10: 85,900,770 (GRCm39) |
I373V |
probably benign |
Het |
Tecrl |
A |
T |
5: 83,502,674 (GRCm39) |
F58L |
probably benign |
Het |
Trp53bp1 |
T |
C |
2: 121,033,191 (GRCm39) |
N1655S |
possibly damaging |
Het |
Usp2 |
G |
T |
9: 44,002,524 (GRCm39) |
Q147H |
probably damaging |
Het |
Usp24 |
T |
A |
4: 106,264,326 (GRCm39) |
N1751K |
possibly damaging |
Het |
Wipf1 |
T |
A |
2: 73,264,487 (GRCm39) |
D438V |
probably damaging |
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 |
IGL00791:Gsdmc
|
APN |
15 |
63,676,284 (GRCm39) |
missense |
possibly damaging |
0.85 |
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 |
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 |
2015-04-16 |