Incidental Mutation 'R2344:Gsdma2'
| ID |
245929 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2344 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98537585-98548790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98546417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 167
(L167P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017355]
[ENSMUST00000093938]
|
| AlphaFold |
Q32M21 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017355
AA Change: L167P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000017355
Gene: ENSMUSG00000017211
AA Change: L167P
| 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: L334P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091470
Gene: ENSMUSG00000017211
AA Change: L334P
| 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: ENSMUST00000129186
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136111
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4b |
A |
G |
13: 14,328,075 (GRCm39) |
Q247R |
probably benign |
Het |
| Bend7 |
A |
T |
2: 4,793,345 (GRCm39) |
D383V |
probably damaging |
Het |
| Calm4 |
A |
G |
13: 3,888,298 (GRCm39) |
K135E |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,152,503 (GRCm39) |
D2412G |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,805,736 (GRCm39) |
T1057A |
unknown |
Het |
| Dpf3 |
T |
G |
12: 83,397,594 (GRCm39) |
D90A |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,280,490 (GRCm39) |
M348K |
probably benign |
Het |
| Elmo3 |
T |
C |
8: 106,035,793 (GRCm39) |
Y558H |
probably damaging |
Het |
| Epha3 |
C |
T |
16: 63,472,746 (GRCm39) |
V79I |
possibly damaging |
Het |
| Ercc5 |
T |
C |
1: 44,206,329 (GRCm39) |
M414T |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,094,318 (GRCm39) |
I389M |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,820,257 (GRCm39) |
F5330S |
possibly damaging |
Het |
| Grin2a |
T |
C |
16: 9,481,099 (GRCm39) |
I533V |
probably benign |
Het |
| Gys2 |
A |
T |
6: 142,391,748 (GRCm39) |
F505I |
probably damaging |
Het |
| Il6 |
A |
T |
5: 30,219,854 (GRCm39) |
M77L |
probably benign |
Het |
| Or6c76b |
A |
T |
10: 129,692,410 (GRCm39) |
T8S |
probably benign |
Het |
| Pgm2l1 |
A |
G |
7: 99,909,115 (GRCm39) |
I194V |
probably damaging |
Het |
| Rbpjl |
G |
T |
2: 164,256,312 (GRCm39) |
V433L |
probably damaging |
Het |
| Rps10 |
C |
G |
17: 27,853,081 (GRCm39) |
R96P |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Supt16 |
T |
C |
14: 52,415,575 (GRCm39) |
T387A |
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,036,414 (GRCm39) |
T298M |
probably benign |
Het |
| Usp49 |
T |
C |
17: 47,983,828 (GRCm39) |
F278L |
probably damaging |
Het |
| Zfp729b |
A |
G |
13: 67,740,352 (GRCm39) |
C648R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATTACTGTGTGCCAAGTGC -3'
(R):5'- TAAACTCAGGTCCTTGTGTATGTAC -3'
Sequencing Primer
(F):5'- TGCCAAGTGCTAGGTTAGACC -3'
(R):5'- TGTATGTACACACACACACACATATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation