Incidental Mutation 'IGL02866:Gsdma3'
| ID |
362347 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gsdma3
|
| Ensembl Gene |
ENSMUSG00000064224 |
| Gene Name |
gasdermin A3 |
| Synonyms |
Dfl, Bsk, Rim3, Gsdm3, Gsdm1l, Fgn, Rco2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL02866
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
98517186-98529052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98520585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 72
(D72G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073295]
[ENSMUST00000104933]
[ENSMUST00000107508]
|
| AlphaFold |
Q5Y4Y6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073295
AA Change: D72G
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000073022
Gene: ENSMUSG00000064224
AA Change: D72G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
3 |
430 |
1.4e-132 |
PFAM |
|
low complexity region
|
438 |
452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000104933
|
| SMART Domains |
Protein: ENSMUSP00000100538
Gene: ENSMUSG00000078134
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
10 |
78 |
7.02e-19 |
SMART |
|
low complexity region
|
97 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
159 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107508
AA Change: D72G
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103132
Gene: ENSMUSG00000064224
AA Change: D72G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
3 |
421 |
9.5e-134 |
PFAM |
|
low complexity region
|
429 |
443 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mutations of this gene affect normal development of the hair follicle, resulting in abnormal coats. Some alleles are associated with corneal opacity and/or microphthalmia. For one allele, high rates of mutation are observed in the MHC that appear to be associated with intra-MHC recombination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
T |
18: 59,181,914 (GRCm39) |
M1118L |
possibly damaging |
Het |
| Ckmt2 |
A |
T |
13: 92,006,400 (GRCm39) |
L315* |
probably null |
Het |
| Dusp28 |
T |
A |
1: 92,835,378 (GRCm39) |
I154N |
probably benign |
Het |
| Ect2l |
A |
T |
10: 18,035,565 (GRCm39) |
I420N |
probably damaging |
Het |
| Erap1 |
C |
A |
13: 74,816,118 (GRCm39) |
N82K |
probably damaging |
Het |
| Hectd1 |
T |
A |
12: 51,837,396 (GRCm39) |
S720C |
probably damaging |
Het |
| Jakmip2 |
T |
G |
18: 43,685,266 (GRCm39) |
E674A |
probably benign |
Het |
| Kcnt2 |
T |
C |
1: 140,352,986 (GRCm39) |
S232P |
probably damaging |
Het |
| Kmo |
T |
C |
1: 175,481,154 (GRCm39) |
S291P |
probably damaging |
Het |
| Kpnb1 |
A |
G |
11: 97,068,112 (GRCm39) |
V286A |
probably damaging |
Het |
| Ldah |
T |
A |
12: 8,288,602 (GRCm39) |
V83D |
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,817,914 (GRCm39) |
I274F |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,367,428 (GRCm39) |
I988T |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,979,849 (GRCm39) |
E596G |
probably benign |
Het |
| Ndufs1 |
T |
C |
1: 63,186,300 (GRCm39) |
I52V |
probably benign |
Het |
| Nhsl1 |
G |
T |
10: 18,403,355 (GRCm39) |
D1363Y |
probably damaging |
Het |
| Or14c41 |
T |
A |
7: 86,234,901 (GRCm39) |
C139* |
probably null |
Het |
| Or51f1e |
C |
A |
7: 102,747,590 (GRCm39) |
T214K |
probably damaging |
Het |
| Or5b98 |
A |
G |
19: 12,931,719 (GRCm39) |
I255M |
possibly damaging |
Het |
| Or6c66 |
A |
C |
10: 129,461,575 (GRCm39) |
Y118* |
probably null |
Het |
| Pcdhb19 |
T |
C |
18: 37,632,163 (GRCm39) |
S653P |
possibly damaging |
Het |
| Plcb3 |
A |
G |
19: 6,935,044 (GRCm39) |
L869P |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,649,191 (GRCm39) |
F3722I |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 75,968,674 (GRCm39) |
K206R |
probably damaging |
Het |
| Pwwp3b |
T |
C |
X: 138,135,753 (GRCm39) |
V97A |
probably benign |
Het |
| Robo3 |
C |
A |
9: 37,333,602 (GRCm39) |
R703L |
possibly damaging |
Het |
| Tob1 |
A |
T |
11: 94,104,883 (GRCm39) |
M140L |
possibly damaging |
Het |
| Ubc |
A |
T |
5: 125,464,486 (GRCm39) |
D280E |
probably benign |
Het |
| Wasf3 |
C |
A |
5: 146,405,131 (GRCm39) |
Q364K |
probably benign |
Het |
|
| Other mutations in Gsdma3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01097:Gsdma3
|
APN |
11 |
98,528,398 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01375:Gsdma3
|
APN |
11 |
98,520,767 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01721:Gsdma3
|
APN |
11 |
98,528,782 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02179:Gsdma3
|
APN |
11 |
98,526,097 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02612:Gsdma3
|
APN |
11 |
98,526,707 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02970:Gsdma3
|
APN |
11 |
98,523,819 (GRCm39) |
missense |
probably benign |
0.01 |
|
Michelin
|
UTSW |
11 |
98,528,399 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Mr_magoo
|
UTSW |
11 |
98,526,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4486001:Gsdma3
|
UTSW |
11 |
98,528,880 (GRCm39) |
missense |
unknown |
|
|
R0408:Gsdma3
|
UTSW |
11 |
98,526,164 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0539:Gsdma3
|
UTSW |
11 |
98,526,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0675:Gsdma3
|
UTSW |
11 |
98,522,017 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1329:Gsdma3
|
UTSW |
11 |
98,523,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Gsdma3
|
UTSW |
11 |
98,526,071 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1812:Gsdma3
|
UTSW |
11 |
98,523,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1838:Gsdma3
|
UTSW |
11 |
98,520,684 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1839:Gsdma3
|
UTSW |
11 |
98,520,684 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2287:Gsdma3
|
UTSW |
11 |
98,528,830 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4883:Gsdma3
|
UTSW |
11 |
98,520,393 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6767:Gsdma3
|
UTSW |
11 |
98,528,710 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7053:Gsdma3
|
UTSW |
11 |
98,520,621 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7733:Gsdma3
|
UTSW |
11 |
98,526,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8417:Gsdma3
|
UTSW |
11 |
98,520,603 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8858:Gsdma3
|
UTSW |
11 |
98,520,695 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8859:Gsdma3
|
UTSW |
11 |
98,522,086 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9777:Gsdma3
|
UTSW |
11 |
98,526,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation