Incidental Mutation 'IGL03252:Gsdma2'
| ID |
414554 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gsdma2
|
| Ensembl Gene |
ENSMUSG00000017211 |
| Gene Name |
gasdermin A2 |
| Synonyms |
2200001G21Rik, Gsdml2, 2210006M16Rik, Gsdm2, 2210009F20Rik, 2210411P14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL03252
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
98537585-98548790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98539916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 13
(R13G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017355]
[ENSMUST00000093938]
|
| AlphaFold |
Q32M21 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017355
|
| SMART Domains |
Protein: ENSMUSP00000017355
Gene: ENSMUSG00000017211
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
6 |
251 |
2.9e-73 |
PFAM |
|
low complexity region
|
259 |
273 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093938
AA Change: R13G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091470
Gene: ENSMUSG00000017211
AA Change: R13G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
3 |
418 |
9.5e-144 |
PFAM |
|
low complexity region
|
426 |
440 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127692
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129186
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131549
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138686
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B4galnt2 |
A |
G |
11: 95,764,757 (GRCm39) |
S237P |
probably damaging |
Het |
| Btla |
A |
G |
16: 45,059,509 (GRCm39) |
H71R |
possibly damaging |
Het |
| Calml3 |
T |
A |
13: 3,853,759 (GRCm39) |
K149* |
probably null |
Het |
| Cyp2c29 |
T |
C |
19: 39,275,619 (GRCm39) |
W20R |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,892,894 (GRCm39) |
|
probably null |
Het |
| Elf3 |
T |
C |
1: 135,182,691 (GRCm39) |
T345A |
probably damaging |
Het |
| Erc2 |
T |
C |
14: 28,197,606 (GRCm39) |
|
probably benign |
Het |
| Gm10375 |
C |
T |
14: 43,842,289 (GRCm39) |
C147Y |
probably damaging |
Het |
| H3c1 |
G |
A |
13: 23,945,943 (GRCm39) |
|
probably null |
Het |
| Ighg3 |
G |
T |
12: 113,324,184 (GRCm39) |
P101H |
unknown |
Het |
| L3mbtl3 |
A |
G |
10: 26,207,710 (GRCm39) |
|
probably benign |
Het |
| Micall2 |
T |
C |
5: 139,702,481 (GRCm39) |
N254S |
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,143,042 (GRCm39) |
D990V |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,962,745 (GRCm39) |
F394I |
probably damaging |
Het |
| Nek1 |
C |
T |
8: 61,525,364 (GRCm39) |
Q601* |
probably null |
Het |
| Or4k37 |
T |
A |
2: 111,159,125 (GRCm39) |
Y120* |
probably null |
Het |
| Or52n2c |
C |
T |
7: 104,574,594 (GRCm39) |
V126I |
probably benign |
Het |
| Plcb1 |
C |
T |
2: 135,212,348 (GRCm39) |
P980S |
probably benign |
Het |
| Puf60 |
T |
C |
15: 75,943,699 (GRCm39) |
D224G |
probably damaging |
Het |
| Pus7l |
T |
A |
15: 94,423,691 (GRCm39) |
H586L |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,315,748 (GRCm39) |
S585P |
probably benign |
Het |
| Rxfp1 |
T |
A |
3: 79,574,990 (GRCm39) |
D207V |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Sptlc2 |
A |
G |
12: 87,402,431 (GRCm39) |
I165T |
probably benign |
Het |
| Sult2a3 |
A |
G |
7: 13,801,559 (GRCm39) |
V260A |
probably damaging |
Het |
| Tas2r125 |
A |
G |
6: 132,887,553 (GRCm39) |
|
probably null |
Het |
| Tbx18 |
T |
A |
9: 87,587,633 (GRCm39) |
I495F |
probably damaging |
Het |
| Top2b |
A |
T |
14: 16,393,163 (GRCm38) |
N274I |
possibly damaging |
Het |
| Vmn2r53 |
T |
G |
7: 12,340,318 (GRCm39) |
T52P |
probably damaging |
Het |
|
| Other mutations in Gsdma2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02002:Gsdma2
|
APN |
11 |
98,541,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03091:Gsdma2
|
APN |
11 |
98,542,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03279:Gsdma2
|
APN |
11 |
98,548,549 (GRCm39) |
missense |
unknown |
|
|
R0116:Gsdma2
|
UTSW |
11 |
98,540,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0443:Gsdma2
|
UTSW |
11 |
98,548,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0521:Gsdma2
|
UTSW |
11 |
98,545,727 (GRCm39) |
nonsense |
probably null |
|
|
R0626:Gsdma2
|
UTSW |
11 |
98,542,810 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1163:Gsdma2
|
UTSW |
11 |
98,541,684 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1340:Gsdma2
|
UTSW |
11 |
98,548,475 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1834:Gsdma2
|
UTSW |
11 |
98,539,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1972:Gsdma2
|
UTSW |
11 |
98,541,744 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2344:Gsdma2
|
UTSW |
11 |
98,546,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2964:Gsdma2
|
UTSW |
11 |
98,548,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Gsdma2
|
UTSW |
11 |
98,541,677 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4256:Gsdma2
|
UTSW |
11 |
98,542,758 (GRCm39) |
splice site |
probably null |
|
|
R4711:Gsdma2
|
UTSW |
11 |
98,540,439 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5175:Gsdma2
|
UTSW |
11 |
98,543,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6734:Gsdma2
|
UTSW |
11 |
98,540,416 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6909:Gsdma2
|
UTSW |
11 |
98,543,383 (GRCm39) |
nonsense |
probably null |
|
|
R7621:Gsdma2
|
UTSW |
11 |
98,540,375 (GRCm39) |
missense |
probably benign |
|
|
R7749:Gsdma2
|
UTSW |
11 |
98,548,547 (GRCm39) |
missense |
unknown |
|
|
R8135:Gsdma2
|
UTSW |
11 |
98,542,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8775:Gsdma2
|
UTSW |
11 |
98,540,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8775-TAIL:Gsdma2
|
UTSW |
11 |
98,540,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9599:Gsdma2
|
UTSW |
11 |
98,540,459 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Posted On |
2016-08-02 |
Incidental Mutation