Incidental Mutation 'IGL01721:Gsdma3'
| ID |
105090 |
| 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 # |
IGL01721
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
98517186-98529052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98528782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 412
(V412A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073295]
[ENSMUST00000107508]
|
| AlphaFold |
Q5Y4Y6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073295
AA Change: V421A
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000073022
Gene: ENSMUSG00000064224
AA Change: V421A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
3 |
430 |
1.4e-132 |
PFAM |
|
low complexity region
|
438 |
452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107508
AA Change: V412A
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103132
Gene: ENSMUSG00000064224
AA Change: V412A
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700088E04Rik |
T |
C |
15: 79,023,453 (GRCm39) |
M51V |
possibly damaging |
Het |
| Acad8 |
A |
G |
9: 26,903,563 (GRCm39) |
|
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,638,855 (GRCm39) |
V53A |
possibly damaging |
Het |
| Bicra |
T |
C |
7: 15,722,624 (GRCm39) |
T298A |
probably benign |
Het |
| Ccdc185 |
C |
T |
1: 182,576,543 (GRCm39) |
E49K |
possibly damaging |
Het |
| Cfhr2 |
A |
G |
1: 139,741,352 (GRCm39) |
S208P |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,990,430 (GRCm39) |
Y1661H |
probably damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,085,367 (GRCm39) |
H435R |
probably benign |
Het |
| Cog8 |
A |
G |
8: 107,780,697 (GRCm39) |
V187A |
probably benign |
Het |
| Col24a1 |
A |
G |
3: 145,244,322 (GRCm39) |
H1532R |
probably benign |
Het |
| Dpp6 |
A |
G |
5: 27,836,518 (GRCm39) |
Y336C |
probably damaging |
Het |
| Drosha |
T |
A |
15: 12,846,198 (GRCm39) |
Y444* |
probably null |
Het |
| Egf |
A |
T |
3: 129,491,371 (GRCm39) |
C374* |
probably null |
Het |
| Eif2b3 |
C |
T |
4: 116,916,001 (GRCm39) |
H203Y |
probably damaging |
Het |
| Erbb4 |
A |
G |
1: 68,293,722 (GRCm39) |
V723A |
possibly damaging |
Het |
| Fbxo21 |
T |
C |
5: 118,126,855 (GRCm39) |
I202T |
probably benign |
Het |
| Gbp6 |
T |
C |
5: 105,422,073 (GRCm39) |
M544V |
probably benign |
Het |
| Gm10750 |
T |
C |
2: 148,857,964 (GRCm39) |
T96A |
unknown |
Het |
| Gm8232 |
A |
T |
14: 44,674,640 (GRCm39) |
|
probably null |
Het |
| Gpi-ps |
A |
T |
8: 5,689,896 (GRCm39) |
|
noncoding transcript |
Het |
| Hs6st1 |
A |
T |
1: 36,108,016 (GRCm39) |
H93L |
probably damaging |
Het |
| Hsf2 |
G |
A |
10: 57,372,277 (GRCm39) |
E77K |
probably benign |
Het |
| Ing3 |
T |
A |
6: 21,968,879 (GRCm39) |
|
probably benign |
Het |
| Ints6 |
T |
C |
14: 62,951,188 (GRCm39) |
I280M |
probably damaging |
Het |
| Kazn |
C |
A |
4: 141,886,354 (GRCm39) |
|
probably null |
Het |
| Klhl20 |
T |
C |
1: 160,923,157 (GRCm39) |
Y13C |
probably damaging |
Het |
| Krtap26-1 |
G |
A |
16: 88,444,060 (GRCm39) |
P187L |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,765,720 (GRCm39) |
I1329K |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,200,984 (GRCm39) |
D223G |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,128,001 (GRCm39) |
E124G |
probably damaging |
Het |
| Nfat5 |
G |
A |
8: 108,071,611 (GRCm39) |
|
probably null |
Het |
| Nkain1 |
A |
G |
4: 130,532,134 (GRCm38) |
F184L |
probably benign |
Het |
| Or8k25 |
T |
C |
2: 86,243,677 (GRCm39) |
T240A |
probably damaging |
Het |
| Rars1 |
A |
T |
11: 35,719,491 (GRCm39) |
F110L |
probably damaging |
Het |
| Rfx6 |
A |
C |
10: 51,599,173 (GRCm39) |
K509N |
probably damaging |
Het |
| Serpinb2 |
T |
C |
1: 107,443,333 (GRCm39) |
L44P |
probably damaging |
Het |
| Sin3a |
G |
A |
9: 57,002,609 (GRCm39) |
R167Q |
probably damaging |
Het |
| Sos2 |
T |
A |
12: 69,650,641 (GRCm39) |
T809S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,533,811 (GRCm39) |
E3356G |
probably damaging |
Het |
| Vmn1r52 |
A |
G |
6: 90,155,905 (GRCm39) |
T70A |
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation