Incidental Mutation 'R1329:Gsdma3'
ID |
156125 |
Institutional Source |
Beutler Lab
|
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 # |
R1329 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
98517186-98529052 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 98523218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 203
(V203F)
|
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: V203F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000073022 Gene: ENSMUSG00000064224 AA Change: V203F
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: V203F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000103132 Gene: ENSMUSG00000064224 AA Change: V203F
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 |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.5%
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot7 |
C |
T |
4: 152,314,241 (GRCm39) |
Q188* |
probably null |
Het |
Ano5 |
T |
C |
7: 51,196,533 (GRCm39) |
Y141H |
probably benign |
Het |
Atg101 |
G |
A |
15: 101,188,171 (GRCm39) |
G92D |
probably null |
Het |
Brwd1 |
A |
G |
16: 95,804,434 (GRCm39) |
I1912T |
probably benign |
Het |
Cad |
G |
T |
5: 31,216,926 (GRCm39) |
G263W |
probably damaging |
Het |
Clstn2 |
T |
C |
9: 97,340,227 (GRCm39) |
E715G |
probably damaging |
Het |
Cracd |
A |
G |
5: 76,805,779 (GRCm39) |
|
probably benign |
Het |
Dbp |
C |
T |
7: 45,357,752 (GRCm39) |
P70S |
probably damaging |
Het |
Fem1al |
T |
A |
11: 29,773,553 (GRCm39) |
N635Y |
probably benign |
Het |
Gpr61 |
T |
A |
3: 108,057,830 (GRCm39) |
H277L |
probably benign |
Het |
Ifih1 |
G |
C |
2: 62,447,831 (GRCm39) |
|
probably null |
Het |
Myo1e |
T |
A |
9: 70,246,020 (GRCm39) |
C404S |
possibly damaging |
Het |
Myrfl |
A |
G |
10: 116,613,247 (GRCm39) |
|
probably null |
Het |
Nfat5 |
T |
G |
8: 108,095,659 (GRCm39) |
M1300R |
probably benign |
Het |
Nfrkb |
C |
T |
9: 31,325,943 (GRCm39) |
P1129S |
possibly damaging |
Het |
Nubp2 |
A |
T |
17: 25,102,838 (GRCm39) |
N208K |
possibly damaging |
Het |
Or8g20 |
A |
G |
9: 39,395,740 (GRCm39) |
S270P |
probably damaging |
Het |
Ovch2 |
T |
C |
7: 107,384,653 (GRCm39) |
D488G |
probably damaging |
Het |
Rfx6 |
A |
T |
10: 51,569,833 (GRCm39) |
Y202F |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Usp4 |
T |
A |
9: 108,249,765 (GRCm39) |
V431E |
probably damaging |
Het |
Vil1 |
A |
G |
1: 74,466,717 (GRCm39) |
I636V |
probably benign |
Het |
Vmn2r116 |
A |
G |
17: 23,606,162 (GRCm39) |
N358S |
possibly damaging |
Het |
Wdr47 |
T |
A |
3: 108,534,615 (GRCm39) |
N511K |
probably benign |
Het |
Wdr5 |
T |
A |
2: 27,421,683 (GRCm39) |
F222I |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAGGGCCATAAGTTCAGAGCACAG -3'
(R):5'- AAGGCATCAGGAGGTCATCACCAG -3'
Sequencing Primer
(F):5'- GACAACTAGAGATCCTTCTGAAGGC -3'
(R):5'- AATTCAGGTCCTTCATCGAGAGC -3'
|
Posted On |
2014-02-11 |