Incidental Mutation 'R2882:Gsdmc'
ID |
260363 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gsdmc
|
Ensembl Gene |
ENSMUSG00000079025 |
Gene Name |
gasdermin C |
Synonyms |
Mlze, Gsdmc1 |
MMRRC Submission |
040470-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R2882 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
63647820-63680588 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 63651644 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 259
(I259V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105752
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110125]
[ENSMUST00000173503]
|
AlphaFold |
Q99NB5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000110125
AA Change: I259V
PolyPhen 2
Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000105752 Gene: ENSMUSG00000079025 AA Change: I259V
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
444 |
6.2e-170 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173503
AA Change: I259V
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000133683 Gene: ENSMUSG00000079025 AA Change: I259V
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
4 |
435 |
9.6e-157 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp9a |
T |
C |
2: 168,548,134 (GRCm39) |
Y7C |
probably damaging |
Het |
Atxn3 |
C |
A |
12: 101,903,670 (GRCm39) |
L178F |
probably damaging |
Het |
Cep112 |
T |
C |
11: 108,410,038 (GRCm39) |
S211P |
possibly damaging |
Het |
Csl |
A |
G |
10: 99,594,787 (GRCm39) |
F93L |
probably damaging |
Het |
Cyp4f40 |
A |
G |
17: 32,887,047 (GRCm39) |
I173V |
probably benign |
Het |
Dcaf17 |
A |
G |
2: 70,912,371 (GRCm39) |
I319V |
possibly damaging |
Het |
Dock5 |
T |
C |
14: 68,077,069 (GRCm39) |
Y258C |
probably damaging |
Het |
Dpp10 |
T |
C |
1: 123,372,932 (GRCm39) |
E236G |
probably damaging |
Het |
Dpyd |
A |
G |
3: 118,858,679 (GRCm39) |
D631G |
probably damaging |
Het |
Ewsr1 |
C |
A |
11: 5,028,523 (GRCm39) |
|
probably benign |
Het |
Fat2 |
C |
A |
11: 55,202,131 (GRCm39) |
L314F |
probably damaging |
Het |
Hydin |
C |
T |
8: 111,293,555 (GRCm39) |
L3501F |
possibly damaging |
Het |
Kdm2a |
A |
G |
19: 4,381,212 (GRCm39) |
|
probably null |
Het |
Klra1 |
A |
T |
6: 130,354,826 (GRCm39) |
|
probably null |
Het |
Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
Minar1 |
C |
T |
9: 89,484,855 (GRCm39) |
V181I |
possibly damaging |
Het |
Mlh3 |
A |
T |
12: 85,314,340 (GRCm39) |
H615Q |
probably damaging |
Het |
Mmp12 |
A |
G |
9: 7,358,236 (GRCm39) |
Y374C |
probably damaging |
Het |
Mpp2 |
T |
C |
11: 101,955,459 (GRCm39) |
E97G |
probably benign |
Het |
Oasl2 |
C |
T |
5: 115,049,084 (GRCm39) |
R175C |
probably damaging |
Het |
Or1j19 |
A |
T |
2: 36,677,202 (GRCm39) |
I222F |
probably damaging |
Het |
Pcdhac2 |
A |
T |
18: 37,278,865 (GRCm39) |
Q615L |
probably damaging |
Het |
Ppm1h |
T |
A |
10: 122,777,239 (GRCm39) |
Y502N |
probably damaging |
Het |
Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
Spata31d1e |
C |
A |
13: 59,890,757 (GRCm39) |
Q354H |
probably benign |
Het |
Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
Tgm6 |
T |
C |
2: 129,979,359 (GRCm39) |
V163A |
probably benign |
Het |
Tlr5 |
C |
T |
1: 182,801,458 (GRCm39) |
T240M |
probably damaging |
Het |
Washc4 |
T |
C |
10: 83,415,365 (GRCm39) |
I785T |
possibly 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 |
R2943:Gsdmc
|
UTSW |
15 |
63,675,501 (GRCm39) |
missense |
possibly damaging |
0.91 |
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'- TCCTAGAAAGAGAAACCTGAGCTG -3'
(R):5'- CTACCTGGCATGGGTTTATCG -3'
Sequencing Primer
(F):5'- TTGAGACACACATTGGAACATCTC -3'
(R):5'- CATGGGTTTATCGTAGGAAATTTCTC -3'
|
Posted On |
2015-01-23 |