Incidental Mutation 'R3764:Gsdma'
| ID |
271817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsdma
|
| Ensembl Gene |
ENSMUSG00000017204 |
| Gene Name |
gasdermin A |
| Synonyms |
Gsdm1, H312E, Gsdm, Gsdma1 |
| MMRRC Submission |
040741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R3764 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98555177-98568534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98561593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 191
(N191I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017348
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017348]
|
| AlphaFold |
Q9EST1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017348
AA Change: N191I
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000017348
Gene: ENSMUSG00000017204
AA Change: N191I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
3 |
421 |
2.2e-147 |
PFAM |
|
low complexity region
|
429 |
443 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1073 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.3%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
G |
A |
17: 14,066,851 (GRCm39) |
A648T |
probably benign |
Het |
| Cadm3 |
C |
T |
1: 173,174,064 (GRCm39) |
V50I |
probably damaging |
Het |
| Catspere2 |
A |
T |
1: 177,940,698 (GRCm39) |
T687S |
unknown |
Het |
| Cubn |
T |
A |
2: 13,336,396 (GRCm39) |
I2477F |
possibly damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
| Eif4e3 |
C |
T |
6: 99,617,586 (GRCm39) |
R95Q |
probably damaging |
Het |
| Fmo5 |
T |
C |
3: 97,553,033 (GRCm39) |
I327T |
probably damaging |
Het |
| Gckr |
T |
A |
5: 31,483,842 (GRCm39) |
|
probably benign |
Het |
| Ghrhr |
T |
C |
6: 55,357,756 (GRCm39) |
V129A |
probably damaging |
Het |
| Hadha |
T |
C |
5: 30,349,207 (GRCm39) |
K135E |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,326,680 (GRCm39) |
E1797G |
probably damaging |
Het |
| Ly9 |
T |
C |
1: 171,421,712 (GRCm39) |
Y513C |
possibly damaging |
Het |
| Nphp4 |
C |
T |
4: 152,622,474 (GRCm39) |
|
probably benign |
Het |
| Pate8 |
A |
T |
9: 36,493,114 (GRCm39) |
|
probably null |
Het |
| Pcm1 |
A |
G |
8: 41,783,919 (GRCm39) |
E2005G |
probably damaging |
Het |
| Spsb2 |
T |
C |
6: 124,786,518 (GRCm39) |
Y84H |
probably damaging |
Het |
| Tlcd3b |
T |
C |
7: 126,426,685 (GRCm39) |
I36T |
probably damaging |
Het |
| Try10 |
C |
T |
6: 41,333,458 (GRCm39) |
R68C |
probably benign |
Het |
| Tut7 |
T |
A |
13: 59,948,194 (GRCm39) |
E307V |
probably damaging |
Het |
| Ube3c |
ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 29,842,584 (GRCm39) |
|
probably benign |
Het |
| Vps50 |
A |
T |
6: 3,588,063 (GRCm39) |
I679F |
probably damaging |
Het |
| Wdr81 |
G |
A |
11: 75,343,629 (GRCm39) |
T546I |
probably damaging |
Het |
| Zfp40 |
T |
A |
17: 23,396,101 (GRCm39) |
H94L |
possibly damaging |
Het |
|
| Other mutations in Gsdma |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01650:Gsdma
|
APN |
11 |
98,564,513 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCCATAAGTTCAGAGCACAG -3'
(R):5'- GTTCTGTCTCCAGCAATGGG -3'
Sequencing Primer
(F):5'- GAGAAAGTCAACTGGAGATCCTACTG -3'
(R):5'- TGGGCAATATAAGATGCTGCTCCC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation