Incidental Mutation 'IGL01650:Gsdma'
ID |
102795 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gsdma
|
Ensembl Gene |
ENSMUSG00000017204 |
Gene Name |
gasdermin A |
Synonyms |
Gsdm1, H312E, Gsdm, Gsdma1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
IGL01650
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
98555177-98568534 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 98564513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 331
(D331Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017348
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017348]
|
AlphaFold |
Q9EST1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000017348
AA Change: D331Y
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000017348 Gene: ENSMUSG00000017204 AA Change: D331Y
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
3 |
421 |
2.2e-147 |
PFAM |
low complexity region
|
429 |
443 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl1 |
A |
G |
7: 76,070,067 (GRCm39) |
D281G |
probably damaging |
Het |
Arhgap28 |
T |
C |
17: 68,180,127 (GRCm39) |
E236G |
probably damaging |
Het |
Bltp1 |
G |
A |
3: 37,046,822 (GRCm39) |
|
probably benign |
Het |
Btbd3 |
A |
T |
2: 138,126,025 (GRCm39) |
D334V |
probably damaging |
Het |
Cabp4 |
T |
C |
19: 4,189,323 (GRCm39) |
E78G |
probably benign |
Het |
Clcn4 |
T |
C |
7: 7,287,280 (GRCm39) |
|
probably benign |
Het |
Col14a1 |
A |
G |
15: 55,270,089 (GRCm39) |
Y600C |
unknown |
Het |
Cpne4 |
A |
G |
9: 104,778,710 (GRCm39) |
D167G |
probably damaging |
Het |
Eif3a |
T |
A |
19: 60,762,434 (GRCm39) |
I450F |
probably damaging |
Het |
Enpp2 |
T |
A |
15: 54,783,329 (GRCm39) |
Y10F |
probably benign |
Het |
Fam227a |
A |
T |
15: 79,518,274 (GRCm39) |
H339Q |
possibly damaging |
Het |
Far2 |
C |
A |
6: 148,074,985 (GRCm39) |
T406K |
possibly damaging |
Het |
Fmo1 |
A |
G |
1: 162,661,153 (GRCm39) |
S377P |
probably benign |
Het |
Fsip2 |
G |
A |
2: 82,821,430 (GRCm39) |
S5721N |
probably benign |
Het |
Gatb |
T |
C |
3: 85,520,791 (GRCm39) |
I300T |
possibly damaging |
Het |
Gpam |
T |
C |
19: 55,070,132 (GRCm39) |
N375D |
probably benign |
Het |
Kif13b |
T |
C |
14: 65,002,594 (GRCm39) |
V1073A |
probably benign |
Het |
Mfsd4b1 |
T |
A |
10: 39,879,115 (GRCm39) |
M261L |
probably benign |
Het |
Nav1 |
A |
T |
1: 135,382,498 (GRCm39) |
D1321E |
probably damaging |
Het |
Or4f59 |
A |
G |
2: 111,872,720 (GRCm39) |
I219T |
possibly damaging |
Het |
Or52j3 |
A |
G |
7: 102,836,286 (GRCm39) |
I159M |
probably benign |
Het |
Or6c69 |
A |
G |
10: 129,747,550 (GRCm39) |
V199A |
probably benign |
Het |
Or6c76b |
T |
A |
10: 129,692,936 (GRCm39) |
L183Q |
probably damaging |
Het |
Or8g32 |
G |
T |
9: 39,305,252 (GRCm39) |
S55I |
probably damaging |
Het |
Ppp1r10 |
G |
T |
17: 36,242,053 (GRCm39) |
R857L |
unknown |
Het |
Prune2 |
T |
A |
19: 17,145,656 (GRCm39) |
I2752N |
possibly damaging |
Het |
Pxdn |
T |
C |
12: 30,052,400 (GRCm39) |
I859T |
probably benign |
Het |
Ros1 |
T |
C |
10: 52,031,075 (GRCm39) |
D510G |
probably damaging |
Het |
Sema3g |
C |
A |
14: 30,943,744 (GRCm39) |
P208H |
probably benign |
Het |
Smcr8 |
T |
C |
11: 60,669,010 (GRCm39) |
F53L |
probably damaging |
Het |
Tnfsf13b |
A |
T |
8: 10,081,411 (GRCm39) |
I219F |
probably damaging |
Het |
Vmn1r62 |
T |
C |
7: 5,679,024 (GRCm39) |
V235A |
probably damaging |
Het |
Vmn2r44 |
C |
A |
7: 8,383,103 (GRCm39) |
|
probably null |
Het |
Zkscan7 |
A |
G |
9: 122,723,892 (GRCm39) |
D287G |
probably benign |
Het |
|
Other mutations in Gsdma |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02573:Gsdma
|
APN |
11 |
98,561,577 (GRCm39) |
splice site |
probably benign |
|
IGL03005:Gsdma
|
APN |
11 |
98,567,085 (GRCm39) |
missense |
probably damaging |
0.97 |
R0143:Gsdma
|
UTSW |
11 |
98,557,080 (GRCm39) |
missense |
probably damaging |
0.96 |
R1337:Gsdma
|
UTSW |
11 |
98,560,533 (GRCm39) |
nonsense |
probably null |
|
R1533:Gsdma
|
UTSW |
11 |
98,567,210 (GRCm39) |
missense |
unknown |
|
R1605:Gsdma
|
UTSW |
11 |
98,557,319 (GRCm39) |
missense |
probably damaging |
0.98 |
R1929:Gsdma
|
UTSW |
11 |
98,562,193 (GRCm39) |
critical splice donor site |
probably null |
|
R1998:Gsdma
|
UTSW |
11 |
98,564,520 (GRCm39) |
missense |
probably damaging |
0.99 |
R2043:Gsdma
|
UTSW |
11 |
98,557,046 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2114:Gsdma
|
UTSW |
11 |
98,563,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R3404:Gsdma
|
UTSW |
11 |
98,563,964 (GRCm39) |
splice site |
probably benign |
|
R3405:Gsdma
|
UTSW |
11 |
98,563,964 (GRCm39) |
splice site |
probably benign |
|
R3406:Gsdma
|
UTSW |
11 |
98,563,964 (GRCm39) |
splice site |
probably benign |
|
R3711:Gsdma
|
UTSW |
11 |
98,557,045 (GRCm39) |
nonsense |
probably null |
|
R3764:Gsdma
|
UTSW |
11 |
98,561,593 (GRCm39) |
missense |
probably damaging |
0.98 |
R4656:Gsdma
|
UTSW |
11 |
98,563,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R5384:Gsdma
|
UTSW |
11 |
98,557,275 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5943:Gsdma
|
UTSW |
11 |
98,563,852 (GRCm39) |
missense |
probably benign |
0.30 |
R7620:Gsdma
|
UTSW |
11 |
98,557,429 (GRCm39) |
missense |
probably benign |
0.06 |
R8340:Gsdma
|
UTSW |
11 |
98,557,421 (GRCm39) |
missense |
probably benign |
0.07 |
R9349:Gsdma
|
UTSW |
11 |
98,566,771 (GRCm39) |
missense |
probably benign |
0.36 |
R9736:Gsdma
|
UTSW |
11 |
98,567,169 (GRCm39) |
missense |
probably damaging |
1.00 |
X0017:Gsdma
|
UTSW |
11 |
98,557,096 (GRCm39) |
critical splice donor site |
probably benign |
|
Z1176:Gsdma
|
UTSW |
11 |
98,560,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-01-21 |