Incidental Mutation 'IGL02970:Gsdma3'
ID |
365754 |
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 # |
IGL02970
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
98517186-98529052 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98523819 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 251
(S251P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073022
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073295]
[ENSMUST00000107508]
|
AlphaFold |
Q5Y4Y6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073295
AA Change: S251P
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000073022 Gene: ENSMUSG00000064224 AA Change: S251P
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: ENSMUST00000107508
AA Change: S251P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103132 Gene: ENSMUSG00000064224 AA Change: S251P
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
C |
T |
1: 53,226,748 (GRCm39) |
G5S |
probably damaging |
Het |
A2ml1 |
A |
T |
6: 128,546,942 (GRCm39) |
F396I |
probably damaging |
Het |
BC051019 |
T |
A |
7: 109,315,262 (GRCm39) |
N331I |
probably benign |
Het |
Crocc |
G |
A |
4: 140,757,557 (GRCm39) |
S912L |
possibly damaging |
Het |
Dcaf4 |
A |
G |
12: 83,575,989 (GRCm39) |
D46G |
probably damaging |
Het |
Dido1 |
C |
T |
2: 180,331,208 (GRCm39) |
R80Q |
probably damaging |
Het |
Dnase2b |
A |
G |
3: 146,288,261 (GRCm39) |
V278A |
probably damaging |
Het |
Drosha |
C |
T |
15: 12,914,042 (GRCm39) |
L1106F |
probably damaging |
Het |
Dsc3 |
C |
A |
18: 20,101,317 (GRCm39) |
W692L |
probably damaging |
Het |
F2 |
T |
A |
2: 91,455,896 (GRCm39) |
Y579F |
possibly damaging |
Het |
Fam43a |
C |
T |
16: 30,419,922 (GRCm39) |
R169C |
probably damaging |
Het |
Gm9772 |
A |
G |
17: 22,225,540 (GRCm39) |
F120S |
probably damaging |
Het |
Hycc2 |
T |
C |
1: 58,578,776 (GRCm39) |
E258G |
probably damaging |
Het |
Itgam |
G |
A |
7: 127,685,215 (GRCm39) |
E443K |
probably benign |
Het |
Kif18a |
T |
C |
2: 109,118,233 (GRCm39) |
V16A |
probably damaging |
Het |
Lrrn3 |
T |
G |
12: 41,502,359 (GRCm39) |
S653R |
probably benign |
Het |
Map1b |
A |
T |
13: 99,567,242 (GRCm39) |
Y1826* |
probably null |
Het |
Mbnl1 |
T |
C |
3: 60,520,844 (GRCm39) |
F139S |
probably damaging |
Het |
Micu3 |
T |
C |
8: 40,835,171 (GRCm39) |
Y509H |
possibly damaging |
Het |
Ncmap |
T |
C |
4: 135,104,329 (GRCm39) |
T17A |
probably damaging |
Het |
Oas1h |
T |
A |
5: 120,999,698 (GRCm39) |
M61K |
possibly damaging |
Het |
Otog |
T |
A |
7: 45,945,291 (GRCm39) |
W2183R |
probably benign |
Het |
Pcdh15 |
T |
C |
10: 74,126,794 (GRCm39) |
|
probably benign |
Het |
Plekho1 |
C |
T |
3: 95,898,214 (GRCm39) |
V150I |
probably damaging |
Het |
Ppargc1b |
A |
G |
18: 61,431,837 (GRCm39) |
S1004P |
probably damaging |
Het |
Prf1 |
T |
C |
10: 61,135,957 (GRCm39) |
S78P |
probably benign |
Het |
Prss12 |
A |
G |
3: 123,276,411 (GRCm39) |
S347G |
probably benign |
Het |
Rai1 |
T |
C |
11: 60,076,559 (GRCm39) |
S208P |
probably damaging |
Het |
Sgms1 |
A |
G |
19: 32,137,165 (GRCm39) |
Y134H |
probably damaging |
Het |
Sult2a4 |
A |
G |
7: 13,643,831 (GRCm39) |
|
probably benign |
Het |
T |
C |
T |
17: 8,654,217 (GRCm39) |
A134V |
probably damaging |
Het |
Thoc5 |
A |
G |
11: 4,854,201 (GRCm39) |
T187A |
probably damaging |
Het |
Ticrr |
A |
G |
7: 79,344,919 (GRCm39) |
S1595G |
probably benign |
Het |
Tiprl |
A |
G |
1: 165,064,315 (GRCm39) |
S30P |
probably damaging |
Het |
Ttl |
T |
C |
2: 128,917,990 (GRCm39) |
S151P |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,583,334 (GRCm39) |
T22520S |
probably damaging |
Het |
Usp54 |
G |
A |
14: 20,627,540 (GRCm39) |
S420L |
probably damaging |
Het |
Vmn1r62 |
T |
A |
7: 5,678,567 (GRCm39) |
Y83N |
possibly damaging |
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 |
IGL02866:Gsdma3
|
APN |
11 |
98,520,585 (GRCm39) |
missense |
possibly damaging |
0.88 |
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 |