Incidental Mutation 'R5241:Gsdmc2'
ID |
400854 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gsdmc2
|
Ensembl Gene |
ENSMUSG00000056293 |
Gene Name |
gasdermin C2 |
Synonyms |
|
MMRRC Submission |
042812-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R5241 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
63696195-63717026 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 63696743 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 476
(R476H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089900]
[ENSMUST00000188404]
[ENSMUST00000188691]
|
AlphaFold |
Q2KHK6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089900
AA Change: R476H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000087344 Gene: ENSMUSG00000056293 AA Change: R476H
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
443 |
1.8e-157 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185277
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188404
AA Change: R476H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000141066 Gene: ENSMUSG00000056293 AA Change: R476H
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
443 |
1.7e-148 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188691
AA Change: R476H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000140487 Gene: ENSMUSG00000056293 AA Change: R476H
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
443 |
1.7e-148 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930033H14Rik |
A |
G |
10: 69,048,581 (GRCm39) |
|
probably null |
Het |
Adgrb3 |
T |
C |
1: 25,150,871 (GRCm39) |
T881A |
possibly damaging |
Het |
Adgrv1 |
A |
T |
13: 81,637,048 (GRCm39) |
C3464* |
probably null |
Het |
Afp |
A |
G |
5: 90,649,473 (GRCm39) |
M347V |
probably benign |
Het |
Apc2 |
A |
G |
10: 80,148,068 (GRCm39) |
T1041A |
probably benign |
Het |
Atl1 |
T |
C |
12: 70,005,887 (GRCm39) |
S398P |
possibly damaging |
Het |
Atp8b4 |
G |
A |
2: 126,225,646 (GRCm39) |
P528L |
probably benign |
Het |
Bahcc1 |
C |
A |
11: 120,162,229 (GRCm39) |
P176T |
probably damaging |
Het |
Bsnd |
A |
G |
4: 106,345,182 (GRCm39) |
V88A |
probably benign |
Het |
Dnah7c |
T |
A |
1: 46,569,660 (GRCm39) |
F687Y |
probably benign |
Het |
Dok6 |
T |
C |
18: 89,616,913 (GRCm39) |
I23M |
possibly damaging |
Het |
Fcgbp |
A |
T |
7: 27,784,624 (GRCm39) |
D228V |
probably damaging |
Het |
Gatad2a |
G |
A |
8: 70,370,667 (GRCm39) |
Q107* |
probably null |
Het |
Glis3 |
G |
T |
19: 28,327,423 (GRCm39) |
T663K |
probably benign |
Het |
Gm10784 |
T |
A |
13: 50,099,129 (GRCm39) |
|
noncoding transcript |
Het |
Gsdmc3 |
A |
G |
15: 63,735,995 (GRCm39) |
S202P |
possibly damaging |
Het |
Map3k8 |
T |
C |
18: 4,340,750 (GRCm39) |
E188G |
probably damaging |
Het |
Mccc1 |
T |
A |
3: 36,028,345 (GRCm39) |
Q487L |
probably benign |
Het |
Msantd1 |
A |
G |
5: 35,078,813 (GRCm39) |
D116G |
probably damaging |
Het |
Myh1 |
T |
A |
11: 67,095,275 (GRCm39) |
S212T |
probably benign |
Het |
Nr1h4 |
A |
G |
10: 89,319,351 (GRCm39) |
Y158H |
probably damaging |
Het |
Or4p19 |
T |
C |
2: 88,242,442 (GRCm39) |
T187A |
possibly damaging |
Het |
Or51f1e |
T |
C |
7: 102,747,524 (GRCm39) |
V192A |
probably benign |
Het |
Or6k8-ps1 |
T |
A |
1: 173,979,667 (GRCm39) |
I195N |
probably benign |
Het |
Pcnt |
A |
T |
10: 76,269,451 (GRCm39) |
H272Q |
probably benign |
Het |
Pdia5 |
T |
C |
16: 35,250,145 (GRCm39) |
N242S |
probably benign |
Het |
Pkd1l2 |
A |
T |
8: 117,761,857 (GRCm39) |
D1441E |
probably damaging |
Het |
Runx2 |
G |
T |
17: 44,950,664 (GRCm39) |
Y203* |
probably null |
Het |
Sdr9c7 |
T |
G |
10: 127,745,659 (GRCm39) |
I257S |
probably benign |
Het |
Slitrk1 |
A |
G |
14: 109,150,444 (GRCm39) |
M89T |
probably benign |
Het |
St14 |
G |
T |
9: 31,011,714 (GRCm39) |
C397* |
probably null |
Het |
Tas2r123 |
T |
C |
6: 132,824,181 (GRCm39) |
I26T |
probably benign |
Het |
Tmem144 |
A |
T |
3: 79,721,431 (GRCm39) |
M329K |
probably benign |
Het |
Tmem252 |
T |
C |
19: 24,651,491 (GRCm39) |
M20T |
probably benign |
Het |
Umodl1 |
T |
C |
17: 31,203,066 (GRCm39) |
V473A |
probably benign |
Het |
Wdr70 |
A |
G |
15: 8,108,700 (GRCm39) |
C149R |
probably benign |
Het |
Xirp2 |
C |
T |
2: 67,312,704 (GRCm39) |
R58* |
probably null |
Het |
Zer1 |
A |
C |
2: 29,994,982 (GRCm39) |
L471R |
probably damaging |
Het |
Zfp101 |
C |
T |
17: 33,601,210 (GRCm39) |
C182Y |
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 |
|
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 |
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'- AGGCTACCCTTGCTCAAATG -3'
(R):5'- GCTTGGCCATTACTTATGAATTGC -3'
Sequencing Primer
(F):5'- GGCTACCCTTGCTCAAATGAATAATC -3'
(R):5'- CCATTACTTATGAATTGCTGGAGGAG -3'
|
Posted On |
2016-07-06 |