Incidental Mutation 'R8417:Gsdma3'
| ID |
653008 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsdma3
|
| Ensembl Gene |
ENSMUSG00000064224 |
| Gene Name |
gasdermin A3 |
| Synonyms |
Dfl, Bsk, Rim3, Gsdm3, Gsdm1l, Fgn, Rco2 |
| MMRRC Submission |
067771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R8417 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98517186-98529052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98520603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 78
(N78S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073295]
[ENSMUST00000104933]
[ENSMUST00000107508]
|
| AlphaFold |
Q5Y4Y6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073295
AA Change: N78S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000073022
Gene: ENSMUSG00000064224
AA Change: N78S
| 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: ENSMUST00000104933
|
| SMART Domains |
Protein: ENSMUSP00000100538
Gene: ENSMUSG00000078134
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
10 |
78 |
7.02e-19 |
SMART |
|
low complexity region
|
97 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
159 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107508
AA Change: N78S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000103132
Gene: ENSMUSG00000064224
AA Change: N78S
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB124611 |
T |
C |
9: 21,440,381 (GRCm39) |
|
probably null |
Het |
| Adamtsl1 |
G |
A |
4: 86,074,926 (GRCm39) |
D98N |
possibly damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,527,134 (GRCm39) |
T601A |
probably benign |
Het |
| Ankrd33 |
C |
A |
15: 101,017,330 (GRCm39) |
Q248K |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Casp12 |
G |
T |
9: 5,352,263 (GRCm39) |
C155F |
probably benign |
Het |
| Ccn6 |
T |
A |
10: 39,027,207 (GRCm39) |
R342* |
probably null |
Het |
| Clpp |
T |
C |
17: 57,297,661 (GRCm39) |
V81A |
probably benign |
Het |
| Cyp3a59 |
A |
T |
5: 146,027,495 (GRCm39) |
I89F |
possibly damaging |
Het |
| Fam227b |
C |
A |
2: 125,962,982 (GRCm39) |
W178L |
probably damaging |
Het |
| Fcna |
C |
A |
2: 25,514,863 (GRCm39) |
R332L |
probably damaging |
Het |
| Gdf3 |
T |
G |
6: 122,583,566 (GRCm39) |
H267P |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,937,975 (GRCm39) |
D419G |
probably benign |
Het |
| Gm6882 |
A |
G |
7: 21,161,220 (GRCm39) |
V216A |
probably damaging |
Het |
| Hsd3b9 |
G |
A |
3: 98,363,731 (GRCm39) |
T38I |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,296,024 (GRCm39) |
I3579T |
probably benign |
Het |
| Ighmbp2 |
T |
C |
19: 3,311,590 (GRCm39) |
I942V |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,106,515 (GRCm39) |
Y1266H |
probably damaging |
Het |
| Lgi3 |
T |
C |
14: 70,772,246 (GRCm39) |
Y264H |
probably benign |
Het |
| Lmod2 |
G |
A |
6: 24,603,384 (GRCm39) |
E120K |
possibly damaging |
Het |
| Mbl2 |
G |
T |
19: 30,216,884 (GRCm39) |
C232F |
probably damaging |
Het |
| Morc1 |
T |
C |
16: 48,281,103 (GRCm39) |
V214A |
probably damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,459,880 (GRCm39) |
C827* |
probably null |
Het |
| Or12k5 |
T |
A |
2: 36,894,658 (GRCm39) |
T323S |
probably benign |
Het |
| Or5t7 |
A |
G |
2: 86,507,149 (GRCm39) |
F176S |
probably damaging |
Het |
| Pbrm1 |
T |
A |
14: 30,749,419 (GRCm39) |
H72Q |
possibly damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,355,136 (GRCm39) |
I944V |
probably benign |
Het |
| Prdm8 |
A |
T |
5: 98,332,390 (GRCm39) |
D97V |
probably damaging |
Het |
| Preb |
G |
A |
5: 31,117,461 (GRCm39) |
|
probably benign |
Het |
| Prkcd |
T |
C |
14: 30,331,208 (GRCm39) |
K56E |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,501,438 (GRCm39) |
I391F |
probably damaging |
Het |
| Spata19 |
A |
G |
9: 27,309,266 (GRCm39) |
S91G |
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,306,850 (GRCm39) |
T1134A |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 115,939,197 (GRCm39) |
M235K |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,249,097 (GRCm39) |
I212N |
probably damaging |
Het |
| Tnfrsf26 |
C |
T |
7: 143,168,639 (GRCm39) |
R133K |
probably benign |
Het |
| Trim43c |
C |
A |
9: 88,725,191 (GRCm39) |
Q238K |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,836,862 (GRCm39) |
D2894G |
probably benign |
Het |
| Zeb2 |
C |
T |
2: 44,913,008 (GRCm39) |
S105N |
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 |
|
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 |
|
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'- CTCTCCTGGATTTGCTGGAG -3'
(R):5'- ATTGATCCTGACAGCCCCTC -3'
Sequencing Primer
(F):5'- AGCTGGGCTCTGAAGGATGC -3'
(R):5'- AGCCCCTCAGCCCTGTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation