Incidental Mutation 'R2287:Gsdma3'
ID |
244161 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gsdma3
|
Ensembl Gene |
ENSMUSG00000064224 |
Gene Name |
gasdermin A3 |
Synonyms |
Dfl, Bsk, Rim3, Gsdm3, Gsdm1l, Fgn, Rco2 |
MMRRC Submission |
040286-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R2287 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
98517186-98529052 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98528830 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 428
(N428S)
|
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: N437S
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000073022 Gene: ENSMUSG00000064224 AA Change: N437S
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: N428S
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103132 Gene: ENSMUSG00000064224 AA Change: N428S
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Clec4f |
CTT |
CT |
6: 83,630,247 (GRCm39) |
|
probably null |
Het |
Dis3l |
T |
A |
9: 64,214,779 (GRCm39) |
Q930L |
probably benign |
Het |
Edem2 |
T |
C |
2: 155,555,279 (GRCm39) |
K275E |
probably benign |
Het |
Ehf |
T |
C |
2: 103,097,469 (GRCm39) |
I193V |
possibly damaging |
Het |
Gtf2h4 |
C |
A |
17: 35,982,117 (GRCm39) |
|
probably null |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Naalad2 |
A |
T |
9: 18,246,317 (GRCm39) |
|
probably null |
Het |
Ndufa8 |
C |
T |
2: 35,926,554 (GRCm39) |
A161T |
probably benign |
Het |
Nlrp14 |
A |
T |
7: 106,781,869 (GRCm39) |
L355F |
probably damaging |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Pcnx4 |
T |
C |
12: 72,622,172 (GRCm39) |
I1047T |
probably benign |
Het |
Pcolce2 |
G |
A |
9: 95,560,458 (GRCm39) |
W169* |
probably null |
Het |
Plxdc2 |
A |
G |
2: 16,517,001 (GRCm39) |
D94G |
probably benign |
Het |
Rp1 |
A |
T |
1: 4,416,182 (GRCm39) |
Y1643* |
probably null |
Het |
Skint4 |
A |
G |
4: 111,975,402 (GRCm39) |
T121A |
possibly damaging |
Het |
Speg |
A |
G |
1: 75,407,109 (GRCm39) |
I3133V |
possibly damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Trim34a |
T |
A |
7: 103,910,262 (GRCm39) |
S355T |
probably damaging |
Het |
Trpv6 |
T |
G |
6: 41,603,045 (GRCm39) |
N276H |
probably damaging |
Het |
Vps8 |
T |
C |
16: 21,387,163 (GRCm39) |
V1175A |
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 |
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 |
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'- GCACCTTGGAGCAGAACTTC -3'
(R):5'- AACTTCAGGATTTAAGCATCAGGAG -3'
Sequencing Primer
(F):5'- CCTGCAAGATAAAGAGGGTGTTTTCC -3'
(R):5'- CATCAGGAGATGGGCTTAGTG -3'
|
Posted On |
2014-10-30 |