Incidental Mutation 'IGL02586:Gsdmc4'
| ID |
299531 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gsdmc4
|
| Ensembl Gene |
ENSMUSG00000055748 |
| Gene Name |
gasdermin C4 |
| Synonyms |
9030605I04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL02586
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
63763113-63784146 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63765641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 303
(S303G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063530]
[ENSMUST00000188108]
|
| AlphaFold |
Q3TR54 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063530
AA Change: S303G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000066072
Gene: ENSMUSG00000055748
AA Change: S303G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
1.2e-162 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177709
|
| SMART Domains |
Protein: ENSMUSP00000137240
Gene: ENSMUSG00000093867
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
161 |
2.1e-57 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185431
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188108
AA Change: S303G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140269
Gene: ENSMUSG00000055748
AA Change: S303G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
4 |
443 |
3.8e-153 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,243,983 (GRCm39) |
I1949V |
possibly damaging |
Het |
| Anapc2 |
T |
A |
2: 25,175,108 (GRCm39) |
M742K |
probably benign |
Het |
| Arhgef12 |
T |
A |
9: 42,917,200 (GRCm39) |
K380* |
probably null |
Het |
| Armc1 |
G |
T |
3: 19,188,192 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
G |
A |
3: 37,098,757 (GRCm39) |
W4626* |
probably null |
Het |
| Diaph3 |
A |
T |
14: 87,223,512 (GRCm39) |
L323* |
probably null |
Het |
| Fbxo11 |
C |
T |
17: 88,318,711 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
C |
T |
17: 23,974,676 (GRCm39) |
A655T |
probably benign |
Het |
| Frmpd1 |
A |
G |
4: 45,285,160 (GRCm39) |
D1327G |
probably damaging |
Het |
| Ggact |
G |
A |
14: 123,128,942 (GRCm39) |
T91I |
possibly damaging |
Het |
| Gm10250 |
T |
A |
15: 5,150,412 (GRCm39) |
|
probably benign |
Het |
| Helt |
T |
C |
8: 46,746,276 (GRCm39) |
E15G |
probably damaging |
Het |
| Kcnf1 |
T |
A |
12: 17,226,144 (GRCm39) |
S26C |
probably benign |
Het |
| Lilra6 |
T |
C |
7: 3,911,819 (GRCm39) |
T280A |
probably benign |
Het |
| Lipo3 |
A |
T |
19: 33,559,539 (GRCm39) |
D110E |
possibly damaging |
Het |
| Mepe |
C |
A |
5: 104,485,316 (GRCm39) |
T152N |
probably benign |
Het |
| Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
| Or5ak24 |
T |
C |
2: 85,260,810 (GRCm39) |
D121G |
possibly damaging |
Het |
| Or6c214 |
A |
G |
10: 129,590,524 (GRCm39) |
I265T |
possibly damaging |
Het |
| Peg3 |
T |
C |
7: 6,713,068 (GRCm39) |
D718G |
probably benign |
Het |
| Phf2 |
A |
T |
13: 48,967,334 (GRCm39) |
|
probably benign |
Het |
| Pigc |
A |
T |
1: 161,798,503 (GRCm39) |
I162F |
probably benign |
Het |
| Raf1 |
A |
G |
6: 115,597,267 (GRCm39) |
L11P |
probably damaging |
Het |
| Rlf |
T |
C |
4: 121,007,261 (GRCm39) |
Y573C |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rnf149 |
T |
G |
1: 39,604,296 (GRCm39) |
Q189P |
probably benign |
Het |
| Slc11a1 |
T |
C |
1: 74,424,291 (GRCm39) |
|
probably benign |
Het |
| Slc22a12 |
C |
T |
19: 6,590,487 (GRCm39) |
M234I |
probably benign |
Het |
| Slc28a1 |
A |
T |
7: 80,814,167 (GRCm39) |
I455F |
probably benign |
Het |
| Slc35f5 |
T |
G |
1: 125,512,273 (GRCm39) |
L358V |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,235,147 (GRCm39) |
V562D |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ushbp1 |
T |
C |
8: 71,841,394 (GRCm39) |
|
probably benign |
Het |
| Vmn1r88 |
T |
A |
7: 12,911,735 (GRCm39) |
Y30* |
probably null |
Het |
| Vmn2r27 |
A |
T |
6: 124,201,434 (GRCm39) |
Y174* |
probably null |
Het |
| Wwox |
T |
C |
8: 115,438,947 (GRCm39) |
Y338H |
possibly damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zup1 |
A |
T |
10: 33,811,261 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gsdmc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00730:Gsdmc4
|
APN |
15 |
63,769,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02301:Gsdmc4
|
APN |
15 |
63,767,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02747:Gsdmc4
|
APN |
15 |
63,765,720 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02829:Gsdmc4
|
APN |
15 |
63,764,497 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03233:Gsdmc4
|
APN |
15 |
63,774,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0835:Gsdmc4
|
UTSW |
15 |
63,765,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0981:Gsdmc4
|
UTSW |
15 |
63,763,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Gsdmc4
|
UTSW |
15 |
63,774,629 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2350:Gsdmc4
|
UTSW |
15 |
63,765,014 (GRCm39) |
missense |
probably benign |
|
|
R2967:Gsdmc4
|
UTSW |
15 |
63,773,909 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3409:Gsdmc4
|
UTSW |
15 |
63,763,895 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3410:Gsdmc4
|
UTSW |
15 |
63,763,895 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4067:Gsdmc4
|
UTSW |
15 |
63,765,736 (GRCm39) |
splice site |
probably null |
|
|
R4840:Gsdmc4
|
UTSW |
15 |
63,765,596 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5182:Gsdmc4
|
UTSW |
15 |
63,765,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5624:Gsdmc4
|
UTSW |
15 |
63,764,503 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5910:Gsdmc4
|
UTSW |
15 |
63,767,101 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6533:Gsdmc4
|
UTSW |
15 |
63,763,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6698:Gsdmc4
|
UTSW |
15 |
63,765,613 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7291:Gsdmc4
|
UTSW |
15 |
63,774,689 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7598:Gsdmc4
|
UTSW |
15 |
63,772,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7691:Gsdmc4
|
UTSW |
15 |
63,765,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7851:Gsdmc4
|
UTSW |
15 |
63,774,595 (GRCm39) |
nonsense |
probably null |
|
|
R7881:Gsdmc4
|
UTSW |
15 |
63,769,568 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8300:Gsdmc4
|
UTSW |
15 |
63,766,790 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8512:Gsdmc4
|
UTSW |
15 |
63,763,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9041:Gsdmc4
|
UTSW |
15 |
63,774,586 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9357:Gsdmc4
|
UTSW |
15 |
63,772,196 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9680:Gsdmc4
|
UTSW |
15 |
63,774,706 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Posted On |
2015-04-16 |
Incidental Mutation