Incidental Mutation 'IGL02683:Gsdmc2'
ID |
303421 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gsdmc2
|
Ensembl Gene |
ENSMUSG00000056293 |
Gene Name |
gasdermin C2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
IGL02683
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
63696195-63717026 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 63705261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 151
(V151M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089900]
[ENSMUST00000188404]
[ENSMUST00000188691]
|
AlphaFold |
Q2KHK6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089900
AA Change: V151M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000087344 Gene: ENSMUSG00000056293 AA Change: V151M
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
443 |
1.8e-157 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000188404
AA Change: V151M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141066 Gene: ENSMUSG00000056293 AA Change: V151M
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
443 |
1.7e-148 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000188691
AA Change: V151M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140487 Gene: ENSMUSG00000056293 AA Change: V151M
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
443 |
1.7e-148 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
C |
8: 111,779,163 (GRCm39) |
|
probably benign |
Het |
Abhd3 |
A |
G |
18: 10,658,790 (GRCm39) |
S215P |
probably damaging |
Het |
Adam20 |
G |
A |
8: 41,248,621 (GRCm39) |
V244M |
probably damaging |
Het |
Akr1c21 |
A |
C |
13: 4,626,312 (GRCm39) |
D112A |
probably damaging |
Het |
Ano6 |
A |
T |
15: 95,846,193 (GRCm39) |
Y498F |
probably damaging |
Het |
Aspscr1 |
T |
C |
11: 120,592,052 (GRCm39) |
F263S |
probably damaging |
Het |
Capn11 |
A |
G |
17: 45,964,517 (GRCm39) |
F100S |
probably damaging |
Het |
Cd63 |
T |
C |
10: 128,746,299 (GRCm39) |
C9R |
probably damaging |
Het |
Cenpj |
T |
C |
14: 56,790,409 (GRCm39) |
K547E |
possibly damaging |
Het |
Clasp1 |
A |
G |
1: 118,466,996 (GRCm39) |
D793G |
probably benign |
Het |
Cmya5 |
G |
A |
13: 93,227,505 (GRCm39) |
Q2528* |
probably null |
Het |
Crybg1 |
A |
G |
10: 43,865,212 (GRCm39) |
S1422P |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnal1 |
G |
A |
12: 84,185,128 (GRCm39) |
G178D |
probably damaging |
Het |
E2f7 |
T |
C |
10: 110,618,320 (GRCm39) |
M795T |
probably benign |
Het |
Glipr1l2 |
T |
C |
10: 111,919,381 (GRCm39) |
V34A |
probably benign |
Het |
Htr7 |
T |
C |
19: 35,937,762 (GRCm39) |
T448A |
probably benign |
Het |
Kcnj5 |
T |
C |
9: 32,229,076 (GRCm39) |
T41A |
possibly damaging |
Het |
Kcnt1 |
T |
C |
2: 25,790,937 (GRCm39) |
M12T |
possibly damaging |
Het |
Kif1c |
G |
A |
11: 70,617,278 (GRCm39) |
A871T |
possibly damaging |
Het |
Map3k10 |
T |
C |
7: 27,358,362 (GRCm39) |
K571R |
probably damaging |
Het |
Med23 |
C |
A |
10: 24,746,615 (GRCm39) |
A45E |
probably benign |
Het |
Nudt5 |
C |
A |
2: 5,868,412 (GRCm39) |
S103R |
probably damaging |
Het |
Or9m1 |
T |
A |
2: 87,733,448 (GRCm39) |
T191S |
possibly damaging |
Het |
Parp3 |
A |
G |
9: 106,350,384 (GRCm39) |
S369P |
possibly damaging |
Het |
Plxna4 |
A |
T |
6: 32,494,541 (GRCm39) |
L25Q |
probably benign |
Het |
Pon2 |
A |
G |
6: 5,269,062 (GRCm39) |
V204A |
probably damaging |
Het |
Ppfia1 |
A |
G |
7: 144,067,095 (GRCm39) |
M463T |
probably damaging |
Het |
Ppp1r14d |
T |
C |
2: 119,049,303 (GRCm39) |
E95G |
probably damaging |
Het |
Pramel18 |
T |
C |
4: 101,767,551 (GRCm39) |
S267P |
probably benign |
Het |
Prrc2a |
A |
G |
17: 35,374,969 (GRCm39) |
V1227A |
probably benign |
Het |
Rabgap1 |
T |
A |
2: 37,392,951 (GRCm39) |
W536R |
probably damaging |
Het |
Slco6d1 |
A |
G |
1: 98,408,397 (GRCm39) |
N431S |
probably benign |
Het |
Spen |
C |
T |
4: 141,198,956 (GRCm39) |
V3224I |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
Stat5b |
T |
G |
11: 100,695,772 (GRCm39) |
K70T |
probably benign |
Het |
Tex44 |
A |
G |
1: 86,355,465 (GRCm39) |
D458G |
probably benign |
Het |
Tut1 |
T |
A |
19: 8,942,622 (GRCm39) |
C570S |
probably benign |
Het |
Usp42 |
T |
C |
5: 143,701,101 (GRCm39) |
E974G |
possibly damaging |
Het |
Vezf1 |
A |
T |
11: 87,967,153 (GRCm39) |
Q310L |
probably benign |
Het |
Vmn2r83 |
A |
T |
10: 79,327,115 (GRCm39) |
R574S |
probably benign |
Het |
Zfp664 |
T |
C |
5: 124,963,386 (GRCm39) |
V260A |
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 |
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 |
|
R4308:Gsdmc2
|
UTSW |
15 |
63,720,554 (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 |
|
Posted On |
2015-04-16 |