Incidental Mutation 'R1337:Gsdma'
| ID |
156912 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsdma
|
| Ensembl Gene |
ENSMUSG00000017204 |
| Gene Name |
gasdermin A |
| Synonyms |
Gsdm1, H312E, Gsdm, Gsdma1 |
| MMRRC Submission |
039402-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R1337 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98555177-98568534 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 98560533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 162
(Q162*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017348
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017348]
|
| AlphaFold |
Q9EST1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000017348
AA Change: Q162*
|
| SMART Domains |
Protein: ENSMUSP00000017348
Gene: ENSMUSG00000017204
AA Change: Q162*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
3 |
421 |
2.2e-147 |
PFAM |
|
low complexity region
|
429 |
443 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
A |
G |
11: 25,719,033 (GRCm39) |
S37P |
unknown |
Het |
| Abca12 |
T |
C |
1: 71,333,978 (GRCm39) |
I1175V |
probably benign |
Het |
| Ager |
G |
T |
17: 34,819,596 (GRCm39) |
|
probably null |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,604,416 (GRCm39) |
I1278T |
probably damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,645,721 (GRCm39) |
V1598A |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,136,497 (GRCm39) |
|
probably null |
Het |
| Ces2g |
A |
T |
8: 105,690,597 (GRCm39) |
Y126F |
possibly damaging |
Het |
| Ehbp1l1 |
A |
T |
19: 5,768,258 (GRCm39) |
M1015K |
probably benign |
Het |
| Engase |
A |
G |
11: 118,373,400 (GRCm39) |
T248A |
possibly damaging |
Het |
| Hapln3 |
T |
C |
7: 78,767,824 (GRCm39) |
E190G |
probably benign |
Het |
| Hdc |
T |
C |
2: 126,458,196 (GRCm39) |
Q42R |
probably benign |
Het |
| Larp1b |
C |
T |
3: 40,987,837 (GRCm39) |
P20S |
probably damaging |
Het |
| Macf1 |
T |
G |
4: 123,370,068 (GRCm39) |
R1564S |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,412,361 (GRCm39) |
Y1769C |
unknown |
Het |
| Nup88 |
T |
A |
11: 70,835,716 (GRCm39) |
Q576L |
probably damaging |
Het |
| Or51f1 |
T |
C |
7: 102,506,078 (GRCm39) |
N137S |
probably benign |
Het |
| Or7g21 |
A |
G |
9: 19,033,099 (GRCm39) |
I280V |
probably benign |
Het |
| Prune2 |
C |
T |
19: 17,096,971 (GRCm39) |
S825L |
possibly damaging |
Het |
| Ryr3 |
C |
A |
2: 112,610,308 (GRCm39) |
M2301I |
possibly damaging |
Het |
| Sdk2 |
A |
C |
11: 113,723,157 (GRCm39) |
V1278G |
possibly damaging |
Het |
| Sertad3 |
T |
C |
7: 27,175,866 (GRCm39) |
L100P |
probably damaging |
Het |
| Slco5a1 |
T |
C |
1: 13,009,366 (GRCm39) |
T370A |
probably benign |
Het |
| Srrm1 |
A |
G |
4: 135,074,044 (GRCm39) |
|
probably null |
Het |
| Stk32a |
A |
G |
18: 43,394,414 (GRCm39) |
D121G |
probably benign |
Het |
| Ttc7 |
A |
T |
17: 87,597,724 (GRCm39) |
R99W |
probably damaging |
Het |
| Xkr9 |
C |
A |
1: 13,771,348 (GRCm39) |
S288Y |
possibly damaging |
Het |
| Zfp644 |
A |
G |
5: 106,785,420 (GRCm39) |
S376P |
probably 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 |
|
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 |
|
|
R3764:Gsdma
|
UTSW |
11 |
98,561,593 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- ATAGTACAAAGCACAGGTGGTGGCCC -3'
(R):5'- ACATTCTGAAAGCAGGAAACTGCCCTC -3'
Sequencing Primer
(F):5'- CCCTGGAGAGGAAATGCTG -3'
(R):5'- actctcctgcctctgcc -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation