Incidental Mutation 'R2943:Gsdmc'
ID |
255836 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gsdmc
|
Ensembl Gene |
ENSMUSG00000079025 |
Gene Name |
gasdermin C |
Synonyms |
Mlze, Gsdmc1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R2943 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
63647820-63680588 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 63675501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 105
(V105I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105752
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110125]
[ENSMUST00000173503]
|
AlphaFold |
Q99NB5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110125
AA Change: V105I
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000105752 Gene: ENSMUSG00000079025 AA Change: V105I
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
444 |
6.2e-170 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173503
AA Change: V105I
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000133683 Gene: ENSMUSG00000079025 AA Change: V105I
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
435 |
9.6e-157 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anln |
A |
G |
9: 22,267,342 (GRCm39) |
|
probably null |
Het |
Aqp12 |
A |
T |
1: 92,934,387 (GRCm39) |
D88V |
probably damaging |
Het |
Armc5 |
A |
C |
7: 127,839,752 (GRCm39) |
N357H |
probably damaging |
Het |
Atad2b |
C |
A |
12: 4,992,067 (GRCm39) |
T222K |
probably damaging |
Het |
Carmil2 |
C |
T |
8: 106,419,564 (GRCm39) |
H815Y |
probably benign |
Het |
Chrna9 |
T |
C |
5: 66,134,438 (GRCm39) |
Y430H |
probably damaging |
Het |
Eif1ad15 |
T |
C |
12: 88,288,004 (GRCm39) |
D83G |
probably benign |
Het |
Eps8 |
T |
C |
6: 137,499,870 (GRCm39) |
D203G |
probably damaging |
Het |
Galnt6 |
G |
T |
15: 100,612,160 (GRCm39) |
|
probably null |
Het |
Kntc1 |
A |
G |
5: 123,935,847 (GRCm39) |
D1509G |
possibly damaging |
Het |
Lrp10 |
C |
T |
14: 54,707,302 (GRCm39) |
|
probably benign |
Het |
Mcmbp |
A |
T |
7: 128,325,697 (GRCm39) |
L97H |
probably damaging |
Het |
Mfsd2a |
A |
G |
4: 122,842,382 (GRCm39) |
L495P |
possibly damaging |
Het |
Or52s19 |
A |
G |
7: 103,007,658 (GRCm39) |
C248R |
probably damaging |
Het |
Pank4 |
G |
A |
4: 155,055,931 (GRCm39) |
V319I |
probably benign |
Het |
Pde7a |
T |
C |
3: 19,284,489 (GRCm39) |
N365D |
probably damaging |
Het |
Pot1b |
A |
T |
17: 55,981,058 (GRCm39) |
S319T |
probably benign |
Het |
Rbm25 |
T |
C |
12: 83,707,415 (GRCm39) |
I276T |
probably damaging |
Het |
Reg1 |
T |
A |
6: 78,405,128 (GRCm39) |
L117Q |
possibly damaging |
Het |
Ripor3 |
T |
C |
2: 167,825,681 (GRCm39) |
H759R |
possibly damaging |
Het |
Rph3al |
A |
T |
11: 75,725,714 (GRCm39) |
|
probably null |
Het |
S1pr4 |
A |
C |
10: 81,334,706 (GRCm39) |
L256R |
probably damaging |
Het |
Sstr4 |
T |
C |
2: 148,238,085 (GRCm39) |
V232A |
probably damaging |
Het |
Tor3a |
G |
A |
1: 156,501,665 (GRCm39) |
P71S |
probably benign |
Het |
Zfp804a |
C |
A |
2: 82,066,223 (GRCm39) |
Q65K |
probably damaging |
Het |
|
Other mutations in Gsdmc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00502:Gsdmc
|
APN |
15 |
63,676,270 (GRCm39) |
missense |
probably benign |
0.41 |
IGL00791:Gsdmc
|
APN |
15 |
63,676,284 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL01889:Gsdmc
|
APN |
15 |
63,651,852 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01917:Gsdmc
|
APN |
15 |
63,650,434 (GRCm39) |
missense |
probably benign |
|
IGL01948:Gsdmc
|
APN |
15 |
63,650,430 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02391:Gsdmc
|
APN |
15 |
63,675,428 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02479:Gsdmc
|
APN |
15 |
63,649,824 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02551:Gsdmc
|
APN |
15 |
63,673,782 (GRCm39) |
missense |
probably benign |
0.00 |
R0115:Gsdmc
|
UTSW |
15 |
63,675,486 (GRCm39) |
missense |
probably damaging |
0.99 |
R1523:Gsdmc
|
UTSW |
15 |
63,675,479 (GRCm39) |
missense |
probably damaging |
0.99 |
R1655:Gsdmc
|
UTSW |
15 |
63,651,892 (GRCm39) |
missense |
probably benign |
0.42 |
R1990:Gsdmc
|
UTSW |
15 |
63,673,748 (GRCm39) |
missense |
probably benign |
0.12 |
R1991:Gsdmc
|
UTSW |
15 |
63,673,748 (GRCm39) |
missense |
probably benign |
0.12 |
R2267:Gsdmc
|
UTSW |
15 |
63,648,647 (GRCm39) |
missense |
probably benign |
0.12 |
R2882:Gsdmc
|
UTSW |
15 |
63,651,644 (GRCm39) |
missense |
probably benign |
0.24 |
R4110:Gsdmc
|
UTSW |
15 |
63,651,876 (GRCm39) |
missense |
probably benign |
0.08 |
R4712:Gsdmc
|
UTSW |
15 |
63,651,386 (GRCm39) |
missense |
probably benign |
0.01 |
R4963:Gsdmc
|
UTSW |
15 |
63,676,229 (GRCm39) |
critical splice donor site |
probably null |
|
R4997:Gsdmc
|
UTSW |
15 |
63,648,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R5032:Gsdmc
|
UTSW |
15 |
63,673,882 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5276:Gsdmc
|
UTSW |
15 |
63,673,806 (GRCm39) |
missense |
probably benign |
0.25 |
R5346:Gsdmc
|
UTSW |
15 |
63,648,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R5963:Gsdmc
|
UTSW |
15 |
63,651,965 (GRCm39) |
splice site |
probably null |
|
R5965:Gsdmc
|
UTSW |
15 |
63,676,447 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6872:Gsdmc
|
UTSW |
15 |
63,650,556 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7035:Gsdmc
|
UTSW |
15 |
63,650,569 (GRCm39) |
splice site |
probably null |
|
R7408:Gsdmc
|
UTSW |
15 |
63,676,315 (GRCm39) |
missense |
probably benign |
|
R7719:Gsdmc
|
UTSW |
15 |
63,650,813 (GRCm39) |
splice site |
probably null |
|
R7862:Gsdmc
|
UTSW |
15 |
63,649,845 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8528:Gsdmc
|
UTSW |
15 |
63,649,189 (GRCm39) |
splice site |
probably null |
|
R8697:Gsdmc
|
UTSW |
15 |
63,651,883 (GRCm39) |
missense |
probably benign |
0.12 |
R9069:Gsdmc
|
UTSW |
15 |
63,649,902 (GRCm39) |
missense |
probably benign |
0.12 |
R9253:Gsdmc
|
UTSW |
15 |
63,676,407 (GRCm39) |
missense |
probably damaging |
0.99 |
R9312:Gsdmc
|
UTSW |
15 |
63,649,806 (GRCm39) |
missense |
probably damaging |
0.98 |
R9385:Gsdmc
|
UTSW |
15 |
63,675,486 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9476:Gsdmc
|
UTSW |
15 |
63,650,551 (GRCm39) |
missense |
probably benign |
0.03 |
R9511:Gsdmc
|
UTSW |
15 |
63,649,897 (GRCm39) |
missense |
probably benign |
0.20 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAACAGAACCTGCTTGCTG -3'
(R):5'- CCCTCTGTGGTAATTTACATTTCAG -3'
Sequencing Primer
(F):5'- TGCCTCTCTGCCTATAAGAACACAG -3'
(R):5'- CAGATATGGCTTATTAGCTAGCTTC -3'
|
Posted On |
2014-12-29 |