Incidental Mutation 'R0932:Gsdmc3'
| ID |
81000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsdmc3
|
| Ensembl Gene |
ENSMUSG00000055827 |
| Gene Name |
gasdermin C3 |
| Synonyms |
9930109F21Rik |
| MMRRC Submission |
039076-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R0932 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
63729573-63750407 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 63730400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089894]
[ENSMUST00000089894]
[ENSMUST00000089894]
[ENSMUST00000089894]
[ENSMUST00000089894]
[ENSMUST00000089894]
[ENSMUST00000185526]
[ENSMUST00000185526]
[ENSMUST00000185526]
[ENSMUST00000190682]
[ENSMUST00000190682]
[ENSMUST00000190682]
[ENSMUST00000190682]
[ENSMUST00000190682]
[ENSMUST00000190682]
|
| AlphaFold |
Q8CB12 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000089894
|
| SMART Domains |
Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
2.1e-154 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000089894
|
| SMART Domains |
Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
2.1e-154 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000089894
|
| SMART Domains |
Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
2.1e-154 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000089894
|
| SMART Domains |
Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
2.1e-154 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000089894
|
| SMART Domains |
Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
2.1e-154 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000089894
|
| SMART Domains |
Protein: ENSMUSP00000087339
Gene: ENSMUSG00000055827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
2.1e-154 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000185526
|
| SMART Domains |
Protein: ENSMUSP00000140272
Gene: ENSMUSG00000055827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000185526
|
| SMART Domains |
Protein: ENSMUSP00000140272
Gene: ENSMUSG00000055827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000185526
|
| SMART Domains |
Protein: ENSMUSP00000140272
Gene: ENSMUSG00000055827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190682
|
| SMART Domains |
Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190682
|
| SMART Domains |
Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190682
|
| SMART Domains |
Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190682
|
| SMART Domains |
Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190682
|
| SMART Domains |
Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190682
|
| SMART Domains |
Protein: ENSMUSP00000139472
Gene: ENSMUSG00000055827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.4e-145 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190937
|
| Meta Mutation Damage Score |
0.9493 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.2%
- 20x: 97.1%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
C |
16: 90,852,995 (GRCm39) |
N47S |
probably benign |
Het |
| AA986860 |
T |
C |
1: 130,665,430 (GRCm39) |
|
probably null |
Het |
| Akap9 |
T |
A |
5: 4,096,492 (GRCm39) |
C2456S |
possibly damaging |
Het |
| Anks3 |
C |
T |
16: 4,771,691 (GRCm39) |
R111H |
probably damaging |
Het |
| Atp1a3 |
A |
T |
7: 24,687,401 (GRCm39) |
|
probably null |
Het |
| Bahd1 |
T |
C |
2: 118,746,408 (GRCm39) |
L9P |
probably damaging |
Het |
| Capn12 |
T |
C |
7: 28,587,123 (GRCm39) |
V364A |
possibly damaging |
Het |
| Cds1 |
T |
A |
5: 101,944,891 (GRCm39) |
C122S |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,185,459 (GRCm39) |
T351A |
possibly damaging |
Het |
| Cuzd1 |
T |
C |
7: 130,921,923 (GRCm39) |
|
probably benign |
Het |
| Daxx |
T |
C |
17: 34,129,635 (GRCm39) |
L72P |
probably damaging |
Het |
| Depdc1b |
A |
G |
13: 108,523,369 (GRCm39) |
I415V |
probably benign |
Het |
| Dlg2 |
T |
C |
7: 92,024,845 (GRCm39) |
V675A |
probably damaging |
Het |
| Dtx4 |
A |
G |
19: 12,469,515 (GRCm39) |
V204A |
probably benign |
Het |
| Ganc |
T |
C |
2: 120,288,610 (GRCm39) |
V872A |
probably damaging |
Het |
| Gm14403 |
A |
T |
2: 177,198,810 (GRCm39) |
R38W |
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,719,423 (GRCm39) |
S2G |
unknown |
Het |
| Gm8159 |
G |
A |
14: 4,635,226 (GRCm38) |
R148H |
possibly damaging |
Het |
| Ibtk |
C |
T |
9: 85,617,099 (GRCm39) |
G158R |
probably damaging |
Het |
| Irx2 |
T |
A |
13: 72,779,675 (GRCm39) |
S320T |
possibly damaging |
Het |
| Kctd7 |
A |
T |
5: 130,180,510 (GRCm39) |
|
probably null |
Het |
| Kdr |
T |
C |
5: 76,129,465 (GRCm39) |
T141A |
probably benign |
Het |
| Krt25 |
T |
A |
11: 99,212,109 (GRCm39) |
Q176L |
possibly damaging |
Het |
| Krt71 |
T |
C |
15: 101,645,195 (GRCm39) |
N372S |
probably benign |
Het |
| Mllt3 |
A |
G |
4: 87,707,621 (GRCm39) |
V446A |
probably damaging |
Het |
| Or1j21 |
T |
A |
2: 36,683,903 (GRCm39) |
Y218* |
probably null |
Het |
| Or4k38 |
A |
T |
2: 111,165,543 (GRCm39) |
D293E |
probably benign |
Het |
| Or5p4 |
C |
T |
7: 107,680,727 (GRCm39) |
T242M |
probably damaging |
Het |
| Or5p52 |
A |
C |
7: 107,502,397 (GRCm39) |
T158P |
possibly damaging |
Het |
| Or9e1 |
T |
C |
11: 58,732,540 (GRCm39) |
V200A |
possibly damaging |
Het |
| Poldip2 |
T |
C |
11: 78,403,294 (GRCm39) |
S18P |
possibly damaging |
Het |
| Ptprd |
T |
G |
4: 76,055,122 (GRCm39) |
Q193P |
probably damaging |
Het |
| Reck |
C |
T |
4: 43,922,838 (GRCm39) |
T371M |
possibly damaging |
Het |
| Rnf144b |
G |
T |
13: 47,374,001 (GRCm39) |
R66L |
probably null |
Het |
| Rpn2 |
T |
A |
2: 157,125,691 (GRCm39) |
D67E |
possibly damaging |
Het |
| Scn11a |
A |
G |
9: 119,636,876 (GRCm39) |
F275S |
probably damaging |
Het |
| Slc12a5 |
G |
A |
2: 164,838,805 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
A |
G |
2: 26,264,658 (GRCm39) |
I253T |
probably damaging |
Het |
| Tppp2 |
C |
T |
14: 52,157,881 (GRCm39) |
|
probably benign |
Het |
| Usp9y |
A |
C |
Y: 1,315,930 (GRCm39) |
N2068K |
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,478,380 (GRCm39) |
C536R |
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 |
|
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 |
|
R6016:Gsdmc3
|
UTSW |
15 |
63,740,261 (GRCm39) |
missense |
probably benign |
0.07 |
|
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'- TCCATAGAGAGCAGACAAGGGCATC -3'
(R):5'- AGCCTTGGAAGTGAGGCCCATTAG -3'
Sequencing Primer
(F):5'- AGACAAGGGCATCTTGGCTTC -3'
(R):5'- AGCCATCTAGGAAGGCATCTTTG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation