Incidental Mutation 'R4412:Gsdmc3'
| ID |
327986 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsdmc3
|
| Ensembl Gene |
ENSMUSG00000055827 |
| Gene Name |
gasdermin C3 |
| Synonyms |
9930109F21Rik |
| MMRRC Submission |
041135-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R4412 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
63857724-63878558 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63866796 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 139
(M139T)
|
| 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: M139T
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827
AA Change: M139T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
2.1e-154 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185526
AA Change: M139T
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000140272
Gene: ENSMUSG00000055827
AA Change: M139T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190682
AA Change: M139T
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827
AA Change: M139T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,577,453 (GRCm38) |
|
probably benign |
Het |
| Adprhl1 |
T |
C |
8: 13,246,114 (GRCm38) |
K144E |
probably benign |
Het |
| Alpl |
A |
G |
4: 137,758,628 (GRCm38) |
I2T |
possibly damaging |
Het |
| Chdh |
G |
T |
14: 30,031,715 (GRCm38) |
G194C |
probably damaging |
Het |
| Cp |
A |
T |
3: 19,966,353 (GRCm38) |
D170V |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,290,001 (GRCm38) |
K132E |
possibly damaging |
Het |
| Cyp2b9 |
T |
G |
7: 26,198,443 (GRCm38) |
L224R |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,848,761 (GRCm38) |
N153S |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 118,073,683 (GRCm38) |
Y2423C |
probably damaging |
Het |
| Dnajc14 |
G |
T |
10: 128,806,205 (GRCm38) |
|
probably benign |
Het |
| Eipr1 |
A |
T |
12: 28,859,373 (GRCm38) |
D213V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,023,599 (GRCm38) |
V1894A |
probably damaging |
Het |
| Flrt2 |
G |
A |
12: 95,780,273 (GRCm38) |
V462I |
probably benign |
Het |
| Gigyf2 |
A |
G |
1: 87,436,860 (GRCm38) |
E954G |
probably damaging |
Het |
| Glis1 |
A |
G |
4: 107,634,718 (GRCm38) |
H593R |
probably damaging |
Het |
| Gpr21 |
C |
G |
2: 37,517,432 (GRCm38) |
|
probably benign |
Het |
| Hydin |
C |
T |
8: 110,415,736 (GRCm38) |
T749I |
probably damaging |
Het |
| Ilf3 |
C |
T |
9: 21,399,560 (GRCm38) |
P620S |
possibly damaging |
Het |
| Khdc3 |
A |
G |
9: 73,102,874 (GRCm38) |
T71A |
possibly damaging |
Het |
| Ms4a12 |
T |
C |
19: 11,230,443 (GRCm38) |
N33S |
probably benign |
Het |
| Nisch |
A |
G |
14: 31,186,658 (GRCm38) |
|
probably benign |
Het |
| Npr2 |
G |
A |
4: 43,644,150 (GRCm38) |
C593Y |
probably damaging |
Het |
| Npr3 |
G |
C |
15: 11,905,149 (GRCm38) |
T164R |
probably benign |
Het |
| Or4c1 |
A |
G |
2: 89,303,340 (GRCm38) |
I84T |
probably benign |
Het |
| Palld |
A |
G |
8: 61,687,372 (GRCm38) |
Y534H |
probably damaging |
Het |
| Pcdhb10 |
TC |
T |
18: 37,414,141 (GRCm38) |
|
probably null |
Het |
| Plekhg3 |
A |
C |
12: 76,577,764 (GRCm38) |
T1127P |
probably damaging |
Het |
| Podnl1 |
A |
T |
8: 84,130,665 (GRCm38) |
H301L |
probably benign |
Het |
| Ripk2 |
A |
G |
4: 16,124,511 (GRCm38) |
V399A |
probably benign |
Het |
| Rpp30 |
T |
A |
19: 36,100,255 (GRCm38) |
N172K |
possibly damaging |
Het |
| Sin3b |
C |
T |
8: 72,739,779 (GRCm38) |
A291V |
probably benign |
Het |
| Slc12a6 |
A |
T |
2: 112,335,888 (GRCm38) |
Q204L |
possibly damaging |
Het |
| Snx9 |
C |
T |
17: 5,908,394 (GRCm38) |
T249M |
probably damaging |
Het |
| Sohlh2 |
C |
A |
3: 55,197,002 (GRCm38) |
T264K |
probably damaging |
Het |
| Srrm2 |
A |
G |
17: 23,810,468 (GRCm38) |
|
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,106,060 (GRCm38) |
H6674Q |
probably benign |
Het |
| Tyw1 |
T |
A |
5: 130,335,232 (GRCm38) |
|
probably null |
Het |
| Vmn1r115 |
C |
T |
7: 20,844,282 (GRCm38) |
R235K |
probably benign |
Het |
| Vmn2r50 |
A |
C |
7: 10,050,308 (GRCm38) |
F80V |
probably damaging |
Het |
| Yme1l1 |
G |
A |
2: 23,175,187 (GRCm38) |
R236H |
probably damaging |
Het |
|
| Other mutations in Gsdmc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00490:Gsdmc3
|
APN |
15 |
63,859,677 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL01125:Gsdmc3
|
APN |
15 |
63,861,457 (GRCm38) |
missense |
probably benign |
0.09 |
|
R0490:Gsdmc3
|
UTSW |
15 |
63,860,250 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0620:Gsdmc3
|
UTSW |
15 |
63,859,693 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0932:Gsdmc3
|
UTSW |
15 |
63,858,551 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1298:Gsdmc3
|
UTSW |
15 |
63,860,281 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1378:Gsdmc3
|
UTSW |
15 |
63,859,586 (GRCm38) |
splice site |
probably benign |
|
|
R1815:Gsdmc3
|
UTSW |
15 |
63,869,116 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1962:Gsdmc3
|
UTSW |
15 |
63,858,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1965:Gsdmc3
|
UTSW |
15 |
63,858,447 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2088:Gsdmc3
|
UTSW |
15 |
63,860,214 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2090:Gsdmc3
|
UTSW |
15 |
63,866,782 (GRCm38) |
missense |
probably benign |
0.07 |
|
R2126:Gsdmc3
|
UTSW |
15 |
63,858,534 (GRCm38) |
nonsense |
probably null |
|
|
R2276:Gsdmc3
|
UTSW |
15 |
63,860,256 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4913:Gsdmc3
|
UTSW |
15 |
63,858,273 (GRCm38) |
makesense |
probably null |
|
|
R5241:Gsdmc3
|
UTSW |
15 |
63,864,146 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R6016:Gsdmc3
|
UTSW |
15 |
63,868,412 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6026:Gsdmc3
|
UTSW |
15 |
63,866,751 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6291:Gsdmc3
|
UTSW |
15 |
63,860,241 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6698:Gsdmc3
|
UTSW |
15 |
63,860,271 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7316:Gsdmc3
|
UTSW |
15 |
63,858,402 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7566:Gsdmc3
|
UTSW |
15 |
63,861,661 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R7717:Gsdmc3
|
UTSW |
15 |
63,869,212 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8978:Gsdmc3
|
UTSW |
15 |
63,859,606 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9104:Gsdmc3
|
UTSW |
15 |
63,859,092 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9417:Gsdmc3
|
UTSW |
15 |
63,866,814 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAAGCGATCCCCAGAATC -3'
(R):5'- CACGTGTACCATGTTATCAACTTC -3'
Sequencing Primer
(F):5'- CCTAAGAAGCAAGAGTACACTAGCTG -3'
(R):5'- TTATTGACTGAGGAACGTCCCCAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation