Incidental Mutation 'R8775:Gsdma2'
ID |
664670 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gsdma2
|
Ensembl Gene |
ENSMUSG00000017211 |
Gene Name |
gasdermin A2 |
Synonyms |
2200001G21Rik, Gsdml2, 2210006M16Rik, Gsdm2, 2210009F20Rik, 2210411P14Rik |
MMRRC Submission |
068719-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R8775 (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 98540009 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 44
(K44E)
|
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: K44E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000091470 Gene: ENSMUSG00000017211 AA Change: K44E
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
|
Meta Mutation Damage Score |
0.1047 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck2 |
T |
C |
6: 39,552,142 (GRCm39) |
|
probably null |
Het |
Alpk3 |
A |
C |
7: 80,727,598 (GRCm39) |
M243L |
probably benign |
Het |
Anapc1 |
A |
T |
2: 128,499,093 (GRCm39) |
Y860N |
possibly damaging |
Het |
Asprv1 |
T |
C |
6: 86,605,321 (GRCm39) |
S56P |
probably damaging |
Het |
D130043K22Rik |
G |
T |
13: 25,040,982 (GRCm39) |
E135* |
probably null |
Het |
Dnmt3b |
A |
G |
2: 153,511,711 (GRCm39) |
H293R |
possibly damaging |
Het |
Dsg1a |
C |
T |
18: 20,473,564 (GRCm39) |
S879L |
probably damaging |
Het |
Fbxo24 |
C |
T |
5: 137,611,213 (GRCm39) |
A526T |
possibly damaging |
Het |
Fign |
A |
T |
2: 63,810,891 (GRCm39) |
D126E |
probably benign |
Het |
Gpr137 |
A |
G |
19: 6,915,800 (GRCm39) |
F377L |
probably damaging |
Het |
Iigp1 |
A |
C |
18: 60,523,596 (GRCm39) |
Y238S |
probably damaging |
Het |
Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
Kcnip2 |
T |
C |
19: 45,782,149 (GRCm39) |
N258S |
possibly damaging |
Het |
Lcat |
A |
G |
8: 106,669,023 (GRCm39) |
I84T |
possibly damaging |
Het |
Mansc1 |
C |
T |
6: 134,587,631 (GRCm39) |
R182H |
probably benign |
Het |
Myh4 |
T |
C |
11: 67,148,006 (GRCm39) |
M1685T |
probably benign |
Het |
Myo10 |
T |
A |
15: 25,800,145 (GRCm39) |
V1407E |
probably damaging |
Het |
Ncam2 |
T |
A |
16: 81,314,429 (GRCm39) |
N468K |
probably benign |
Het |
Nckap1 |
A |
G |
2: 80,375,410 (GRCm39) |
S297P |
probably benign |
Het |
Nefm |
T |
C |
14: 68,362,108 (GRCm39) |
Y52C |
probably damaging |
Het |
Ntng2 |
A |
T |
2: 29,117,976 (GRCm39) |
N157K |
possibly damaging |
Het |
Oscp1 |
T |
C |
4: 125,970,619 (GRCm39) |
V136A |
probably benign |
Het |
Oser1 |
G |
A |
2: 163,249,004 (GRCm39) |
T66I |
probably benign |
Het |
Palld |
A |
G |
8: 62,138,006 (GRCm39) |
L583P |
possibly damaging |
Het |
Pex7 |
A |
G |
10: 19,760,522 (GRCm39) |
|
probably null |
Het |
Ppp2r3d |
A |
G |
9: 101,004,204 (GRCm39) |
Y378H |
probably benign |
Het |
Prss33 |
T |
A |
17: 24,052,885 (GRCm39) |
N263I |
possibly damaging |
Het |
Psg25 |
A |
C |
7: 18,255,153 (GRCm39) |
C454W |
probably damaging |
Het |
Ptpn21 |
T |
C |
12: 98,649,001 (GRCm39) |
|
probably null |
Het |
Sh3bp2 |
A |
T |
5: 34,719,751 (GRCm39) |
S587C |
probably damaging |
Het |
Sos2 |
A |
G |
12: 69,664,006 (GRCm39) |
F493L |
probably benign |
Het |
St8sia4 |
T |
A |
1: 95,519,472 (GRCm39) |
T339S |
possibly damaging |
Het |
Taok1 |
T |
C |
11: 77,470,632 (GRCm39) |
K58E |
probably benign |
Het |
Thsd1 |
A |
G |
8: 22,749,643 (GRCm39) |
D838G |
possibly damaging |
Het |
Tulp2 |
A |
G |
7: 45,164,914 (GRCm39) |
T65A |
probably benign |
Het |
Usp54 |
A |
T |
14: 20,638,466 (GRCm39) |
S205T |
probably benign |
Het |
Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
Vmn2r37 |
A |
T |
7: 9,218,991 (GRCm39) |
Y464* |
probably null |
Het |
Wdsub1 |
A |
G |
2: 59,693,014 (GRCm39) |
M300T |
probably damaging |
Het |
Xrcc5 |
C |
T |
1: 72,433,089 (GRCm39) |
T716I |
probably benign |
Het |
Zfp619 |
G |
T |
7: 39,184,639 (GRCm39) |
C223F |
possibly 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 |
|
R8135:Gsdma2
|
UTSW |
11 |
98,542,872 (GRCm39) |
missense |
probably benign |
0.00 |
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'- CCTTACCAGGTCTTGACGAC -3'
(R):5'- AACTCTGGGCTTGGTGACAC -3'
Sequencing Primer
(F):5'- TCTTGACGACCCCAGCG -3'
(R):5'- GGCTTGGTGACACCTAACCATATC -3'
|
Posted On |
2021-03-08 |