Incidental Mutation 'R8858:Gsdma3'
| ID |
675479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsdma3
|
| Ensembl Gene |
ENSMUSG00000064224 |
| Gene Name |
gasdermin A3 |
| Synonyms |
Dfl, Bsk, Rim3, Gsdm3, Gsdm1l, Fgn, Rco2 |
| MMRRC Submission |
068738-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R8858 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98517186-98529052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 98520695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 109
(Q109K)
|
| 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: Q109K
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000073022
Gene: ENSMUSG00000064224
AA Change: Q109K
| 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: Q109K
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103132
Gene: ENSMUSG00000064224
AA Change: Q109K
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (47/47) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
A |
G |
5: 138,638,338 (GRCm39) |
Q91R |
probably benign |
Het |
| Abca16 |
G |
T |
7: 120,052,327 (GRCm39) |
C465F |
probably benign |
Het |
| Amfr |
A |
G |
8: 94,714,070 (GRCm39) |
Y254H |
probably damaging |
Het |
| Arl6ip6 |
A |
G |
2: 53,093,018 (GRCm39) |
E181G |
probably damaging |
Het |
| Atp10a |
A |
G |
7: 58,465,971 (GRCm39) |
E1066G |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,101,964 (GRCm39) |
V100A |
probably benign |
Het |
| Cep126 |
T |
C |
9: 8,130,270 (GRCm39) |
M54V |
probably benign |
Het |
| Ciao2a |
T |
C |
9: 66,039,824 (GRCm39) |
I47T |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,120,318 (GRCm39) |
V1829A |
probably benign |
Het |
| Cyp2c54 |
G |
A |
19: 40,062,227 (GRCm39) |
T10I |
probably benign |
Het |
| Dennd11 |
T |
C |
6: 40,399,669 (GRCm39) |
N173S |
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,977,781 (GRCm39) |
Y799C |
probably damaging |
Het |
| Dnajc17 |
T |
C |
2: 119,011,445 (GRCm39) |
T162A |
probably benign |
Het |
| Fhad1 |
T |
C |
4: 141,666,339 (GRCm39) |
E695G |
possibly damaging |
Het |
| Gadl1 |
A |
T |
9: 115,835,669 (GRCm39) |
S366C |
probably damaging |
Het |
| Gbp11 |
C |
A |
5: 105,473,392 (GRCm39) |
E454* |
probably null |
Het |
| Gm32742 |
T |
A |
9: 51,062,256 (GRCm39) |
T691S |
probably benign |
Het |
| Hsph1 |
A |
T |
5: 149,548,576 (GRCm39) |
V482E |
probably damaging |
Het |
| Ighv1-23 |
T |
A |
12: 114,728,083 (GRCm39) |
Y113F |
probably benign |
Het |
| Lactb |
G |
T |
9: 66,863,182 (GRCm39) |
Y477* |
probably null |
Het |
| Lgr6 |
T |
C |
1: 134,923,849 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,560,827 (GRCm39) |
|
probably benign |
Het |
| Map3k4 |
A |
C |
17: 12,490,759 (GRCm39) |
L224R |
probably damaging |
Het |
| Mex3d |
A |
T |
10: 80,217,217 (GRCm39) |
C667S |
unknown |
Het |
| Myh8 |
A |
G |
11: 67,192,820 (GRCm39) |
E1537G |
possibly damaging |
Het |
| Myo5a |
T |
C |
9: 75,091,965 (GRCm39) |
S1205P |
probably damaging |
Het |
| Nfic |
A |
T |
10: 81,262,965 (GRCm39) |
|
probably benign |
Het |
| Nrcam |
T |
A |
12: 44,644,554 (GRCm39) |
|
probably benign |
Het |
| Or2aj6 |
A |
G |
16: 19,443,109 (GRCm39) |
V247A |
probably damaging |
Het |
| Or4f54 |
G |
A |
2: 111,123,503 (GRCm39) |
V297M |
probably benign |
Het |
| Orc2 |
A |
T |
1: 58,532,857 (GRCm39) |
D127E |
probably benign |
Het |
| Ppp2r5c |
T |
A |
12: 110,519,329 (GRCm39) |
|
probably null |
Het |
| Ptpn18 |
A |
G |
1: 34,502,196 (GRCm39) |
T71A |
possibly damaging |
Het |
| Ptpru |
T |
C |
4: 131,526,825 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
C |
A |
2: 146,102,285 (GRCm39) |
|
probably null |
Het |
| Rnase9 |
G |
A |
14: 51,276,766 (GRCm39) |
P71S |
|
Het |
| Ryr1 |
A |
G |
7: 28,808,638 (GRCm39) |
L485P |
probably benign |
Het |
| Sardh |
T |
C |
2: 27,118,302 (GRCm39) |
D476G |
probably null |
Het |
| Sorbs3 |
T |
C |
14: 70,438,850 (GRCm39) |
Y170C |
probably damaging |
Het |
| Spata31e4 |
T |
C |
13: 50,855,423 (GRCm39) |
S354P |
probably benign |
Het |
| St8sia5 |
C |
T |
18: 77,320,511 (GRCm39) |
P88S |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,854,497 (GRCm39) |
|
probably null |
Het |
| Tnfrsf13b |
A |
G |
11: 61,038,363 (GRCm39) |
I215M |
possibly damaging |
Het |
| Unc13d |
G |
T |
11: 115,953,618 (GRCm39) |
L1052M |
probably damaging |
Het |
| Vasn |
A |
G |
16: 4,466,833 (GRCm39) |
D260G |
probably benign |
Het |
| Wdr77 |
T |
C |
3: 105,868,978 (GRCm39) |
V116A |
probably damaging |
Het |
| Zfp560 |
A |
G |
9: 20,260,403 (GRCm39) |
I153T |
probably benign |
Het |
| Zfp672 |
G |
A |
11: 58,208,145 (GRCm39) |
R59C |
possibly 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 |
|
R8417:Gsdma3
|
UTSW |
11 |
98,520,603 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- TCACCAAGCCCAGAGTTCTC -3'
(R):5'- CTTATCTTGGCTTCCAATTGCA -3'
Sequencing Primer
(F):5'- CTCTCTGGGGGTGCTGATGAG -3'
(R):5'- CCCGAAATCCTTGTGAACATGTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation