Incidental Mutation 'IGL01097:Gsdma3'
| ID |
52279 |
| 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 # |
IGL01097
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
98517186-98529052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98528398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 357
(K357E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073295]
[ENSMUST00000107508]
|
| AlphaFold |
Q5Y4Y6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073295
AA Change: K366E
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000073022
Gene: ENSMUSG00000064224
AA Change: K366E
| 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 damaging
Transcript: ENSMUST00000107508
AA Change: K357E
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103132
Gene: ENSMUSG00000064224
AA Change: K357E
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi2 |
C |
T |
1: 60,486,505 (GRCm39) |
A75V |
probably damaging |
Het |
| Bud23 |
G |
A |
5: 135,089,935 (GRCm39) |
A86V |
probably damaging |
Het |
| Dnajc5 |
T |
C |
2: 181,189,149 (GRCm39) |
Y42H |
probably benign |
Het |
| Fchsd1 |
T |
C |
18: 38,100,810 (GRCm39) |
|
probably null |
Het |
| Fnbp4 |
C |
A |
2: 90,606,694 (GRCm39) |
A835D |
possibly damaging |
Het |
| Gm57859 |
T |
C |
11: 113,583,296 (GRCm39) |
I541T |
probably benign |
Het |
| Grin2d |
A |
T |
7: 45,502,716 (GRCm39) |
N718K |
probably damaging |
Het |
| Impg2 |
T |
A |
16: 56,081,010 (GRCm39) |
|
probably null |
Het |
| Lrrtm2 |
A |
T |
18: 35,345,994 (GRCm39) |
I436N |
probably damaging |
Het |
| Mterf2 |
T |
A |
10: 84,955,677 (GRCm39) |
I316L |
probably damaging |
Het |
| Nav2 |
G |
A |
7: 49,220,942 (GRCm39) |
A1710T |
probably damaging |
Het |
| Nrros |
A |
G |
16: 31,963,003 (GRCm39) |
V338A |
possibly damaging |
Het |
| Or2f2 |
T |
G |
6: 42,767,077 (GRCm39) |
Y35D |
probably damaging |
Het |
| Or52a20 |
G |
T |
7: 103,366,328 (GRCm39) |
V176F |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,684,718 (GRCm39) |
Y807C |
probably damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,140,545 (GRCm39) |
L246P |
probably damaging |
Het |
| Stat6 |
T |
C |
10: 127,490,801 (GRCm39) |
S407P |
probably damaging |
Het |
| Ttpal |
T |
C |
2: 163,449,240 (GRCm39) |
Y32H |
probably damaging |
Het |
| Zfp523 |
A |
G |
17: 28,420,023 (GRCm39) |
K223E |
possibly damaging |
Het |
|
| Other mutations in Gsdma3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation