Incidental Mutation 'IGL00502:Gsdmc'
| ID |
4093 |
| 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 # |
IGL00502
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
63647820-63680588 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63676270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 58
(T58A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133683
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110125]
[ENSMUST00000173503]
|
| AlphaFold |
Q99NB5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110125
AA Change: T58A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000105752
Gene: ENSMUSG00000079025
AA Change: T58A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
444 |
6.2e-170 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173503
AA Change: T58A
PolyPhen 2
Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000133683
Gene: ENSMUSG00000079025
AA Change: T58A
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
A |
T |
15: 94,301,278 (GRCm39) |
I82N |
probably damaging |
Het |
| Ampd2 |
A |
T |
3: 107,984,712 (GRCm39) |
L422H |
probably damaging |
Het |
| Angptl2 |
T |
A |
2: 33,118,406 (GRCm39) |
V60E |
probably damaging |
Het |
| Ano3 |
G |
A |
2: 110,601,395 (GRCm39) |
|
probably benign |
Het |
| Arhgap40 |
A |
G |
2: 158,373,078 (GRCm39) |
D112G |
probably benign |
Het |
| Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
| Btrc |
A |
T |
19: 45,515,704 (GRCm39) |
E553V |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,541,212 (GRCm39) |
Y1323* |
probably null |
Het |
| Ccdc146 |
A |
G |
5: 21,506,420 (GRCm39) |
C674R |
possibly damaging |
Het |
| Ccdc170 |
A |
G |
10: 4,496,836 (GRCm39) |
D458G |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,438,198 (GRCm39) |
M898L |
probably benign |
Het |
| Crybg1 |
C |
T |
10: 43,834,309 (GRCm39) |
V1961I |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,381,822 (GRCm39) |
S2257P |
probably damaging |
Het |
| Dytn |
A |
G |
1: 63,717,999 (GRCm39) |
V12A |
probably benign |
Het |
| Foxk2 |
A |
G |
11: 121,187,925 (GRCm39) |
|
probably benign |
Het |
| Galnt2l |
T |
C |
8: 125,054,837 (GRCm39) |
M204T |
probably damaging |
Het |
| Gfi1b |
G |
A |
2: 28,504,797 (GRCm39) |
Q70* |
probably null |
Het |
| Hikeshi |
G |
A |
7: 89,572,818 (GRCm39) |
T26I |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,287,960 (GRCm39) |
D433G |
probably damaging |
Het |
| Ndufb5 |
T |
A |
3: 32,799,048 (GRCm39) |
V55D |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,014,336 (GRCm39) |
S431P |
probably benign |
Het |
| Pdcd1lg2 |
A |
T |
19: 29,423,462 (GRCm39) |
T169S |
possibly damaging |
Het |
| Plekha7 |
A |
T |
7: 115,734,419 (GRCm39) |
M1006K |
probably damaging |
Het |
| Rgs6 |
A |
T |
12: 83,098,097 (GRCm39) |
I94F |
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,370,380 (GRCm39) |
D938V |
probably damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,705,319 (GRCm39) |
T842A |
possibly damaging |
Het |
| Spata21 |
C |
A |
4: 140,838,675 (GRCm39) |
|
probably null |
Het |
| Stk32a |
C |
T |
18: 43,443,510 (GRCm39) |
T229I |
possibly damaging |
Het |
| Tent4b |
C |
T |
8: 88,978,886 (GRCm39) |
Q63* |
probably null |
Het |
| Trim33 |
C |
T |
3: 103,237,498 (GRCm39) |
P185S |
probably benign |
Het |
| Tspoap1 |
A |
G |
11: 87,668,647 (GRCm39) |
|
probably null |
Het |
| Vcan |
A |
G |
13: 89,840,438 (GRCm39) |
V742A |
probably benign |
Het |
| Vrtn |
A |
T |
12: 84,695,837 (GRCm39) |
I196F |
probably benign |
Het |
| Wasf1 |
A |
T |
10: 40,796,293 (GRCm39) |
I8F |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,980,879 (GRCm39) |
I491M |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,809,775 (GRCm39) |
T1095A |
possibly damaging |
Het |
|
| Other mutations in Gsdmc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation