Incidental Mutation 'R4308:Gsdmc2'
ID |
324112 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gsdmc2
|
Ensembl Gene |
ENSMUSG00000056293 |
Gene Name |
gasdermin C2 |
Synonyms |
|
MMRRC Submission |
041659-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R4308 (G1)
|
Quality Score |
106 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
63696195-63717026 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 63720554 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000188404]
[ENSMUST00000188691]
|
AlphaFold |
Q2KHK6 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000071847
|
SMART Domains |
Protein: ENSMUSP00000071747 Gene: ENSMUSG00000062543
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
159 |
7.8e-40 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188404
|
SMART Domains |
Protein: ENSMUSP00000141066 Gene: ENSMUSG00000056293
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
443 |
1.7e-148 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188691
|
SMART Domains |
Protein: ENSMUSP00000140487 Gene: ENSMUSG00000056293
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
443 |
1.7e-148 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190937
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
98% (47/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
G |
A |
13: 81,588,311 (GRCm39) |
T4425M |
probably damaging |
Het |
Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
Asap2 |
T |
C |
12: 21,279,482 (GRCm39) |
I426T |
probably damaging |
Het |
Ascc1 |
T |
G |
10: 59,849,434 (GRCm39) |
H108Q |
probably benign |
Het |
Bod1l |
A |
T |
5: 41,949,156 (GRCm39) |
S2989T |
possibly damaging |
Het |
Cfap157 |
G |
A |
2: 32,669,054 (GRCm39) |
R350W |
probably damaging |
Het |
Cyp39a1 |
T |
A |
17: 44,041,855 (GRCm39) |
|
probably null |
Het |
Dars2 |
A |
G |
1: 160,869,291 (GRCm39) |
S653P |
probably damaging |
Het |
Fancm |
A |
T |
12: 65,173,305 (GRCm39) |
K1872N |
probably benign |
Het |
Fktn |
C |
T |
4: 53,724,617 (GRCm39) |
|
probably benign |
Het |
Gpr33 |
A |
T |
12: 52,070,423 (GRCm39) |
C205* |
probably null |
Het |
Il31 |
A |
G |
5: 123,618,769 (GRCm39) |
S6P |
probably damaging |
Het |
Iqca1 |
T |
C |
1: 90,072,619 (GRCm39) |
K87R |
probably damaging |
Het |
Kif15 |
T |
G |
9: 122,843,047 (GRCm39) |
H47Q |
probably benign |
Het |
L3mbtl3 |
C |
T |
10: 26,158,690 (GRCm39) |
A653T |
unknown |
Het |
Lamb1 |
T |
C |
12: 31,379,254 (GRCm39) |
L1737P |
probably damaging |
Het |
Map2k5 |
C |
G |
9: 63,142,586 (GRCm39) |
R353S |
probably benign |
Het |
Mical2 |
C |
A |
7: 111,931,199 (GRCm39) |
L721I |
probably benign |
Het |
Myo1b |
T |
C |
1: 51,922,268 (GRCm39) |
K37E |
probably benign |
Het |
Myo5b |
A |
G |
18: 74,864,811 (GRCm39) |
D1369G |
possibly damaging |
Het |
Npc1 |
C |
T |
18: 12,343,584 (GRCm39) |
A470T |
possibly damaging |
Het |
Obi1 |
T |
A |
14: 104,717,029 (GRCm39) |
N448I |
probably damaging |
Het |
Or12e13 |
T |
C |
2: 87,663,614 (GRCm39) |
I77T |
probably damaging |
Het |
Or14j10 |
C |
T |
17: 37,934,627 (GRCm39) |
V300I |
possibly damaging |
Het |
Pcdhb1 |
A |
T |
18: 37,399,714 (GRCm39) |
D555V |
probably benign |
Het |
Prr27 |
A |
G |
5: 87,990,766 (GRCm39) |
H126R |
probably benign |
Het |
Rbm20 |
A |
G |
19: 53,831,691 (GRCm39) |
S642G |
probably damaging |
Het |
Rnf144b |
A |
G |
13: 47,396,418 (GRCm39) |
N252D |
probably damaging |
Het |
Rwdd2b |
A |
T |
16: 87,233,615 (GRCm39) |
W162R |
probably damaging |
Het |
Scaf11 |
A |
G |
15: 96,344,396 (GRCm39) |
M19T |
probably benign |
Het |
Sft2d2 |
A |
G |
1: 165,015,833 (GRCm39) |
I45T |
probably benign |
Het |
Skint5 |
A |
T |
4: 113,341,164 (GRCm39) |
H1371Q |
unknown |
Het |
Tas2r124 |
A |
G |
6: 132,731,954 (GRCm39) |
I88V |
probably benign |
Het |
Tasor2 |
A |
C |
13: 3,619,498 (GRCm39) |
S2244R |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,199,820 (GRCm39) |
V4568A |
possibly damaging |
Het |
Vmn2r12 |
A |
G |
5: 109,233,872 (GRCm39) |
L780P |
probably damaging |
Het |
Vmn2r18 |
A |
T |
5: 151,508,268 (GRCm39) |
Y285* |
probably null |
Het |
Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
Zfp983 |
A |
G |
17: 21,881,124 (GRCm39) |
I351V |
probably benign |
Het |
|
Other mutations in Gsdmc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00556:Gsdmc2
|
APN |
15 |
63,700,120 (GRCm39) |
splice site |
probably benign |
|
IGL02212:Gsdmc2
|
APN |
15 |
63,699,911 (GRCm39) |
splice site |
probably benign |
|
IGL02394:Gsdmc2
|
APN |
15 |
63,707,729 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02683:Gsdmc2
|
APN |
15 |
63,705,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R0046:Gsdmc2
|
UTSW |
15 |
63,699,604 (GRCm39) |
splice site |
probably benign |
|
R0105:Gsdmc2
|
UTSW |
15 |
63,700,026 (GRCm39) |
missense |
probably benign |
|
R0105:Gsdmc2
|
UTSW |
15 |
63,700,026 (GRCm39) |
missense |
probably benign |
|
R0655:Gsdmc2
|
UTSW |
15 |
63,699,622 (GRCm39) |
missense |
probably benign |
0.00 |
R1066:Gsdmc2
|
UTSW |
15 |
63,696,899 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1283:Gsdmc2
|
UTSW |
15 |
63,696,906 (GRCm39) |
missense |
probably damaging |
0.99 |
R1691:Gsdmc2
|
UTSW |
15 |
63,705,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R1727:Gsdmc2
|
UTSW |
15 |
63,721,628 (GRCm39) |
unclassified |
probably benign |
|
R1911:Gsdmc2
|
UTSW |
15 |
63,699,621 (GRCm39) |
missense |
probably benign |
0.00 |
R1990:Gsdmc2
|
UTSW |
15 |
63,700,086 (GRCm39) |
missense |
probably benign |
0.00 |
R1991:Gsdmc2
|
UTSW |
15 |
63,700,086 (GRCm39) |
missense |
probably benign |
0.00 |
R2018:Gsdmc2
|
UTSW |
15 |
63,699,975 (GRCm39) |
splice site |
probably null |
|
R2090:Gsdmc2
|
UTSW |
15 |
63,698,675 (GRCm39) |
missense |
probably benign |
0.09 |
R3037:Gsdmc2
|
UTSW |
15 |
63,705,180 (GRCm39) |
missense |
probably benign |
0.00 |
R3964:Gsdmc2
|
UTSW |
15 |
63,721,683 (GRCm39) |
unclassified |
probably benign |
|
R4574:Gsdmc2
|
UTSW |
15 |
63,699,872 (GRCm39) |
critical splice donor site |
probably null |
|
R4738:Gsdmc2
|
UTSW |
15 |
63,698,650 (GRCm39) |
nonsense |
probably null |
|
R4873:Gsdmc2
|
UTSW |
15 |
63,700,101 (GRCm39) |
missense |
probably benign |
0.41 |
R4875:Gsdmc2
|
UTSW |
15 |
63,700,101 (GRCm39) |
missense |
probably benign |
0.41 |
R4883:Gsdmc2
|
UTSW |
15 |
63,707,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R5115:Gsdmc2
|
UTSW |
15 |
63,699,617 (GRCm39) |
missense |
probably benign |
0.00 |
R5241:Gsdmc2
|
UTSW |
15 |
63,696,743 (GRCm39) |
missense |
probably benign |
0.00 |
R5510:Gsdmc2
|
UTSW |
15 |
63,700,045 (GRCm39) |
missense |
probably benign |
|
R5841:Gsdmc2
|
UTSW |
15 |
63,698,059 (GRCm39) |
missense |
probably benign |
0.00 |
R5987:Gsdmc2
|
UTSW |
15 |
63,702,715 (GRCm39) |
missense |
probably benign |
0.00 |
R6199:Gsdmc2
|
UTSW |
15 |
63,696,962 (GRCm39) |
missense |
probably benign |
0.01 |
R6359:Gsdmc2
|
UTSW |
15 |
63,696,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R6610:Gsdmc2
|
UTSW |
15 |
63,696,857 (GRCm39) |
missense |
probably benign |
0.03 |
R6984:Gsdmc2
|
UTSW |
15 |
63,696,898 (GRCm39) |
nonsense |
probably null |
|
R7092:Gsdmc2
|
UTSW |
15 |
63,696,947 (GRCm39) |
missense |
probably damaging |
0.99 |
R7204:Gsdmc2
|
UTSW |
15 |
63,696,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R7247:Gsdmc2
|
UTSW |
15 |
63,705,183 (GRCm39) |
missense |
probably benign |
0.02 |
R7409:Gsdmc2
|
UTSW |
15 |
63,705,195 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7589:Gsdmc2
|
UTSW |
15 |
63,696,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R7636:Gsdmc2
|
UTSW |
15 |
63,700,041 (GRCm39) |
missense |
probably benign |
0.00 |
R7658:Gsdmc2
|
UTSW |
15 |
63,696,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R7673:Gsdmc2
|
UTSW |
15 |
63,696,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R8017:Gsdmc2
|
UTSW |
15 |
63,698,762 (GRCm39) |
missense |
probably benign |
0.28 |
R8019:Gsdmc2
|
UTSW |
15 |
63,698,762 (GRCm39) |
missense |
probably benign |
0.28 |
R8368:Gsdmc2
|
UTSW |
15 |
63,696,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R8512:Gsdmc2
|
UTSW |
15 |
63,706,864 (GRCm39) |
missense |
probably null |
0.74 |
R9266:Gsdmc2
|
UTSW |
15 |
63,698,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R9515:Gsdmc2
|
UTSW |
15 |
63,702,678 (GRCm39) |
missense |
probably benign |
0.15 |
R9577:Gsdmc2
|
UTSW |
15 |
63,696,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGCTTCCACTTTAAGACCAGAG -3'
(R):5'- TCTTGGAGATACCTGGGTCAG -3'
Sequencing Primer
(F):5'- AACCTAGCTCTGGGGTGATCAG -3'
(R):5'- TGGGTCAGGACAGCCAG -3'
|
Posted On |
2015-06-24 |