Incidental Mutation 'R6016:Gsdmc3'
ID |
478613 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gsdmc3
|
Ensembl Gene |
ENSMUSG00000055827 |
Gene Name |
gasdermin C3 |
Synonyms |
9930109F21Rik |
MMRRC Submission |
043255-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R6016 (G1)
|
Quality Score |
134.008 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
63729573-63750407 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 63740261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 86
(D86A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139472
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089894]
[ENSMUST00000185526]
[ENSMUST00000190682]
|
AlphaFold |
Q8CB12 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089894
AA Change: D86A
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000087339 Gene: ENSMUSG00000055827 AA Change: D86A
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
443 |
2.1e-154 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185526
AA Change: D86A
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000140272 Gene: ENSMUSG00000055827 AA Change: D86A
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190682
AA Change: D86A
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000139472 Gene: ENSMUSG00000055827 AA Change: D86A
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol9b |
T |
C |
15: 77,620,058 (GRCm39) |
S285P |
probably damaging |
Het |
Casz1 |
C |
A |
4: 149,019,041 (GRCm39) |
N447K |
probably damaging |
Het |
Cltb |
T |
C |
13: 54,754,480 (GRCm39) |
T71A |
possibly damaging |
Het |
Dcaf12 |
A |
G |
4: 41,313,267 (GRCm39) |
F93L |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,328,030 (GRCm39) |
Y2135H |
probably damaging |
Het |
Entpd2 |
C |
T |
2: 25,288,568 (GRCm39) |
R191W |
probably damaging |
Het |
Gm17067 |
G |
T |
7: 42,357,654 (GRCm39) |
P283T |
probably benign |
Het |
Gm3250 |
A |
G |
10: 77,618,367 (GRCm39) |
|
probably benign |
Het |
Gne |
T |
C |
4: 44,039,063 (GRCm39) |
E532G |
probably damaging |
Het |
Hs3st2 |
A |
G |
7: 121,099,922 (GRCm39) |
H256R |
probably damaging |
Het |
Il19 |
T |
A |
1: 130,863,718 (GRCm39) |
D16V |
probably damaging |
Het |
Lats2 |
A |
T |
14: 57,971,632 (GRCm39) |
N14K |
probably damaging |
Het |
Mill2 |
G |
T |
7: 18,590,373 (GRCm39) |
S151I |
probably benign |
Het |
Ncapg2 |
G |
A |
12: 116,390,227 (GRCm39) |
R392H |
probably damaging |
Het |
Nop56 |
T |
C |
2: 130,118,545 (GRCm39) |
|
probably null |
Het |
Or14j8 |
A |
T |
17: 38,262,967 (GRCm39) |
V316D |
probably benign |
Het |
Or2bd2 |
A |
T |
7: 6,443,613 (GRCm39) |
H238L |
probably benign |
Het |
Or5p5 |
A |
T |
7: 107,414,219 (GRCm39) |
I143F |
probably benign |
Het |
Pde1a |
T |
C |
2: 79,695,406 (GRCm39) |
R446G |
probably benign |
Het |
Pes1 |
T |
A |
11: 3,928,004 (GRCm39) |
M552K |
possibly damaging |
Het |
Plxnb2 |
T |
A |
15: 89,045,225 (GRCm39) |
T1074S |
possibly damaging |
Het |
Psg23 |
G |
T |
7: 18,346,112 (GRCm39) |
H194Q |
probably benign |
Het |
Rprd2 |
A |
G |
3: 95,694,685 (GRCm39) |
V116A |
probably damaging |
Het |
Shkbp1 |
A |
G |
7: 27,053,826 (GRCm39) |
V124A |
possibly damaging |
Het |
Slc38a8 |
A |
T |
8: 120,221,044 (GRCm39) |
|
probably null |
Het |
Slitrk6 |
A |
G |
14: 110,987,958 (GRCm39) |
V583A |
probably benign |
Het |
Sptbn5 |
G |
T |
2: 119,880,573 (GRCm39) |
|
noncoding transcript |
Het |
Stab1 |
A |
T |
14: 30,880,950 (GRCm39) |
I614N |
probably damaging |
Het |
Tgm6 |
A |
G |
2: 129,983,148 (GRCm39) |
T246A |
probably damaging |
Het |
Tnks1bp1 |
T |
C |
2: 84,882,734 (GRCm39) |
L187P |
probably damaging |
Het |
Vmn1r157 |
A |
G |
7: 22,461,272 (GRCm39) |
R51G |
possibly damaging |
Het |
Vmn2r68 |
A |
T |
7: 84,871,453 (GRCm39) |
I610K |
probably damaging |
Het |
|
Other mutations in Gsdmc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00490:Gsdmc3
|
APN |
15 |
63,731,526 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01125:Gsdmc3
|
APN |
15 |
63,733,306 (GRCm39) |
missense |
probably benign |
0.09 |
R0490:Gsdmc3
|
UTSW |
15 |
63,732,099 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0620:Gsdmc3
|
UTSW |
15 |
63,731,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R0932:Gsdmc3
|
UTSW |
15 |
63,730,400 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1298:Gsdmc3
|
UTSW |
15 |
63,732,130 (GRCm39) |
missense |
probably damaging |
0.99 |
R1378:Gsdmc3
|
UTSW |
15 |
63,731,435 (GRCm39) |
splice site |
probably benign |
|
R1815:Gsdmc3
|
UTSW |
15 |
63,740,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R1962:Gsdmc3
|
UTSW |
15 |
63,730,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R1965:Gsdmc3
|
UTSW |
15 |
63,730,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R2088:Gsdmc3
|
UTSW |
15 |
63,732,063 (GRCm39) |
critical splice donor site |
probably null |
|
R2090:Gsdmc3
|
UTSW |
15 |
63,738,631 (GRCm39) |
missense |
probably benign |
0.07 |
R2126:Gsdmc3
|
UTSW |
15 |
63,730,383 (GRCm39) |
nonsense |
probably null |
|
R2276:Gsdmc3
|
UTSW |
15 |
63,732,105 (GRCm39) |
missense |
probably benign |
0.09 |
R4412:Gsdmc3
|
UTSW |
15 |
63,738,645 (GRCm39) |
missense |
probably benign |
0.18 |
R4913:Gsdmc3
|
UTSW |
15 |
63,730,122 (GRCm39) |
makesense |
probably null |
|
R5241:Gsdmc3
|
UTSW |
15 |
63,735,995 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6026:Gsdmc3
|
UTSW |
15 |
63,738,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R6291:Gsdmc3
|
UTSW |
15 |
63,732,090 (GRCm39) |
missense |
probably benign |
0.00 |
R6698:Gsdmc3
|
UTSW |
15 |
63,732,120 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7316:Gsdmc3
|
UTSW |
15 |
63,730,251 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7566:Gsdmc3
|
UTSW |
15 |
63,733,510 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7717:Gsdmc3
|
UTSW |
15 |
63,741,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R8978:Gsdmc3
|
UTSW |
15 |
63,731,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R9104:Gsdmc3
|
UTSW |
15 |
63,730,941 (GRCm39) |
critical splice donor site |
probably null |
|
R9417:Gsdmc3
|
UTSW |
15 |
63,738,663 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAACACAGCCTGAAACTTGG -3'
(R):5'- ATGGGTTCCAGAGTTTGCCC -3'
Sequencing Primer
(F):5'- CACAGCCTGAAACTTGGCTGAG -3'
(R):5'- GAGTTTGCCCTCTGTGATAATTTAC -3'
|
Posted On |
2017-06-26 |