Incidental Mutation 'R4920:Gsdmd'
| ID |
378531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsdmd
|
| Ensembl Gene |
ENSMUSG00000022575 |
| Gene Name |
gasdermin D |
| Synonyms |
Dfna5l, Gsdmdc1, 1810036L03Rik, DF5L, M2-4 |
| MMRRC Submission |
042522-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4920 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
75734176-75739257 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75736206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 112
(S112P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023238]
[ENSMUST00000229331]
[ENSMUST00000230514]
|
| AlphaFold |
Q9D8T2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023238
AA Change: S112P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023238
Gene: ENSMUSG00000022575
AA Change: S112P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
461 |
8.3e-175 |
PFAM |
|
low complexity region
|
470 |
482 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229331
AA Change: S75P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230571
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231170
|
| Meta Mutation Damage Score |
0.8881 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 87.9%
|
| Validation Efficiency |
96% (55/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and grossly normal with no apparent defects in the development and maintenance of the intestinal epithelium. Mice homozygous for another null allele exhibit impaired induced pyroptosis and Il1b secretion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700092K14Rik |
A |
T |
11: 114,089,871 (GRCm39) |
|
noncoding transcript |
Het |
| Adcy4 |
C |
T |
14: 56,016,486 (GRCm39) |
D322N |
probably damaging |
Het |
| Apbb1ip |
A |
G |
2: 22,709,696 (GRCm39) |
D51G |
unknown |
Het |
| Bmal1 |
A |
G |
7: 112,884,321 (GRCm39) |
T120A |
probably damaging |
Het |
| Brca1 |
A |
T |
11: 101,415,785 (GRCm39) |
V783D |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,998,907 (GRCm39) |
D58G |
probably damaging |
Het |
| Ccr9 |
G |
T |
9: 123,608,504 (GRCm39) |
G62V |
probably damaging |
Het |
| Ces2b |
T |
C |
8: 105,563,538 (GRCm39) |
Y422H |
probably benign |
Het |
| Cpa4 |
T |
C |
6: 30,568,462 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
A |
G |
15: 73,412,574 (GRCm39) |
H412R |
probably benign |
Het |
| Dpy19l3 |
A |
T |
7: 35,407,467 (GRCm39) |
|
probably benign |
Het |
| Dtwd2 |
G |
T |
18: 49,831,507 (GRCm39) |
R167S |
possibly damaging |
Het |
| Dync1i2 |
G |
A |
2: 71,077,668 (GRCm39) |
R243Q |
probably damaging |
Het |
| Ear2 |
G |
A |
14: 44,340,582 (GRCm39) |
G80E |
probably damaging |
Het |
| Fam171b |
A |
G |
2: 83,710,703 (GRCm39) |
K792E |
possibly damaging |
Het |
| Fam83b |
G |
A |
9: 76,399,150 (GRCm39) |
T651I |
probably benign |
Het |
| Fcrl5 |
T |
G |
3: 87,351,480 (GRCm39) |
F243V |
probably damaging |
Het |
| Galntl6 |
T |
C |
8: 58,880,807 (GRCm39) |
I115M |
probably damaging |
Het |
| Glrx3 |
A |
G |
7: 137,065,859 (GRCm39) |
D163G |
probably null |
Het |
| Gm14488 |
A |
T |
2: 30,605,044 (GRCm39) |
|
noncoding transcript |
Het |
| Gm973 |
T |
C |
1: 59,666,725 (GRCm39) |
S683P |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| Ighv14-3 |
A |
G |
12: 114,023,877 (GRCm39) |
V6A |
probably benign |
Het |
| Lca5l |
T |
A |
16: 95,980,035 (GRCm39) |
S32C |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,571,765 (GRCm39) |
Y260* |
probably null |
Het |
| Lyst |
T |
C |
13: 13,821,645 (GRCm39) |
S1340P |
possibly damaging |
Het |
| Mfsd13a |
T |
G |
19: 46,355,655 (GRCm39) |
F59V |
probably damaging |
Het |
| Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
| Noa1 |
T |
C |
5: 77,454,334 (GRCm39) |
|
probably null |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Pgm1 |
C |
T |
4: 99,843,930 (GRCm39) |
T571M |
probably damaging |
Het |
| Pramel23 |
T |
C |
4: 143,425,853 (GRCm39) |
D30G |
probably benign |
Het |
| Rfc1 |
C |
A |
5: 65,445,271 (GRCm39) |
V460F |
probably damaging |
Het |
| Rrn3 |
A |
G |
16: 13,608,503 (GRCm39) |
D182G |
probably benign |
Het |
| Sap25 |
T |
A |
5: 137,640,507 (GRCm39) |
|
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,794,878 (GRCm39) |
I480V |
probably benign |
Het |
| Smo |
T |
C |
6: 29,759,593 (GRCm39) |
S642P |
probably damaging |
Het |
| Tbc1d22a |
A |
C |
15: 86,195,949 (GRCm39) |
I307L |
probably benign |
Het |
| Tent2 |
G |
A |
13: 93,322,833 (GRCm39) |
Q39* |
probably null |
Het |
| Ubr3 |
A |
G |
2: 69,783,212 (GRCm39) |
Q716R |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,802,918 (GRCm39) |
E276G |
probably benign |
Het |
| Zfp189 |
G |
A |
4: 49,529,302 (GRCm39) |
C135Y |
probably damaging |
Het |
|
| Other mutations in Gsdmd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01351:Gsdmd
|
APN |
15 |
75,736,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01528:Gsdmd
|
APN |
15 |
75,735,354 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL03005:Gsdmd
|
APN |
15 |
75,739,015 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
gasder
|
UTSW |
15 |
75,736,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0788:Gsdmd
|
UTSW |
15 |
75,736,103 (GRCm39) |
nonsense |
probably null |
|
|
R1301:Gsdmd
|
UTSW |
15 |
75,738,908 (GRCm39) |
splice site |
probably null |
|
|
R3725:Gsdmd
|
UTSW |
15 |
75,737,939 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4585:Gsdmd
|
UTSW |
15 |
75,737,600 (GRCm39) |
splice site |
probably null |
|
|
R4917:Gsdmd
|
UTSW |
15 |
75,736,241 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4918:Gsdmd
|
UTSW |
15 |
75,736,241 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5593:Gsdmd
|
UTSW |
15 |
75,738,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7078:Gsdmd
|
UTSW |
15 |
75,736,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7372:Gsdmd
|
UTSW |
15 |
75,737,618 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7408:Gsdmd
|
UTSW |
15 |
75,738,202 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7612:Gsdmd
|
UTSW |
15 |
75,736,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7999:Gsdmd
|
UTSW |
15 |
75,735,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8197:Gsdmd
|
UTSW |
15 |
75,736,186 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8337:Gsdmd
|
UTSW |
15 |
75,736,270 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9025:Gsdmd
|
UTSW |
15 |
75,739,053 (GRCm39) |
missense |
probably benign |
|
|
R9749:Gsdmd
|
UTSW |
15 |
75,735,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0052:Gsdmd
|
UTSW |
15 |
75,737,977 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Z1088:Gsdmd
|
UTSW |
15 |
75,735,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCTTTAAAGGTCCCATCAC -3'
(R):5'- CCCTCATTCAGTGCTGAGAG -3'
Sequencing Primer
(F):5'- TTTAAAGGTCCCATCACTACAGAGG -3'
(R):5'- CATTCAGTGCTGAGAGATACTGCC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation