Incidental Mutation 'R8135:Gsdma2'
| ID |
632224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsdma2
|
| Ensembl Gene |
ENSMUSG00000017211 |
| Gene Name |
gasdermin A2 |
| Synonyms |
2200001G21Rik, Gsdml2, 2210006M16Rik, Gsdm2, 2210009F20Rik, 2210411P14Rik |
| MMRRC Submission |
067563-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R8135 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98537585-98548790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98542872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 211
(I211V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017355]
[ENSMUST00000093938]
|
| AlphaFold |
Q32M21 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017355
AA Change: I44V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000017355
Gene: ENSMUSG00000017211
AA Change: I44V
| 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 benign
Transcript: ENSMUST00000093938
AA Change: I211V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000091470
Gene: ENSMUSG00000017211
AA Change: I211V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
3 |
418 |
9.5e-144 |
PFAM |
|
low complexity region
|
426 |
440 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.7%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
A |
G |
1: 78,674,712 (GRCm39) |
I420V |
probably benign |
Het |
| Adam7 |
A |
T |
14: 68,754,022 (GRCm39) |
M359K |
probably damaging |
Het |
| Adra1d |
C |
T |
2: 131,403,692 (GRCm39) |
A133T |
probably damaging |
Het |
| B3galnt2 |
T |
A |
13: 14,145,454 (GRCm39) |
|
probably null |
Het |
| Camk1g |
A |
G |
1: 193,036,335 (GRCm39) |
V175A |
possibly damaging |
Het |
| Cfi |
A |
G |
3: 129,648,649 (GRCm39) |
N178D |
probably benign |
Het |
| Csf2rb |
T |
A |
15: 78,232,319 (GRCm39) |
I542K |
possibly damaging |
Het |
| Ctsz |
T |
C |
2: 174,270,946 (GRCm39) |
T183A |
probably benign |
Het |
| Dhx8 |
A |
G |
11: 101,629,090 (GRCm39) |
D213G |
unknown |
Het |
| Dph7 |
T |
C |
2: 24,859,556 (GRCm39) |
I271T |
probably benign |
Het |
| Edem1 |
G |
T |
6: 108,806,022 (GRCm39) |
E108* |
probably null |
Het |
| Enpp4 |
T |
C |
17: 44,412,226 (GRCm39) |
T328A |
probably benign |
Het |
| Fasl |
A |
G |
1: 161,614,697 (GRCm39) |
V122A |
probably benign |
Het |
| Fut2 |
T |
C |
7: 45,300,566 (GRCm39) |
T69A |
probably damaging |
Het |
| Gaa |
T |
C |
11: 119,169,210 (GRCm39) |
|
probably null |
Het |
| Galnt5 |
T |
A |
2: 57,904,880 (GRCm39) |
V481D |
probably damaging |
Het |
| H2-M10.4 |
T |
C |
17: 36,772,662 (GRCm39) |
T107A |
probably benign |
Het |
| Iqcg |
T |
A |
16: 32,849,394 (GRCm39) |
K297N |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,452,828 (GRCm39) |
T573A |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,407,180 (GRCm39) |
D1438G |
probably damaging |
Het |
| Nipal2 |
A |
T |
15: 34,678,719 (GRCm39) |
Y41N |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,922,703 (GRCm39) |
S5878T |
possibly damaging |
Het |
| Pde6a |
T |
C |
18: 61,418,996 (GRCm39) |
F791L |
probably damaging |
Het |
| Phip |
A |
T |
9: 82,812,427 (GRCm39) |
N308K |
probably benign |
Het |
| Pigc |
A |
G |
1: 161,798,134 (GRCm39) |
K39E |
possibly damaging |
Het |
| Robo2 |
T |
G |
16: 73,730,048 (GRCm39) |
I1050L |
probably benign |
Het |
| Rps2 |
A |
G |
17: 24,939,409 (GRCm39) |
K54E |
probably benign |
Het |
| Set |
T |
A |
2: 29,959,439 (GRCm39) |
D137E |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,075 (GRCm39) |
I100M |
probably benign |
Het |
| Spdye4b |
T |
C |
5: 143,180,777 (GRCm39) |
V81A |
probably damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,609,071 (GRCm39) |
D722G |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,135,420 (GRCm39) |
D1011V |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,548,446 (GRCm39) |
I573F |
possibly damaging |
Het |
| Vmn1r74 |
T |
A |
7: 11,581,530 (GRCm39) |
C277S |
probably benign |
Het |
| Vwa1 |
T |
A |
4: 155,857,351 (GRCm39) |
D149V |
probably damaging |
Het |
| Zfp397 |
T |
A |
18: 24,089,564 (GRCm39) |
V23E |
probably damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,654,346 (GRCm39) |
D722G |
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 |
|
IGL03252:Gsdma2
|
APN |
11 |
98,539,916 (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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCCATAAGTTCAGAACACAG -3'
(R):5'- TGGTTCTGTCTCCAGCAATG -3'
Sequencing Primer
(F):5'- TACTGGACATCCTACTGAAGGC -3'
(R):5'- TGGGCAATATAAGATGCTGCTCCC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation