Incidental Mutation 'R3818:Gsdme'
ID |
274779 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gsdme
|
Ensembl Gene |
ENSMUSG00000029821 |
Gene Name |
gasdermin E |
Synonyms |
Dfna5h, Fin15, 2310037D07Rik, Dfna5, 4932441K13Rik |
MMRRC Submission |
040772-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3818 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
50167013-50240837 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 50196391 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 340
(S340A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126759
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031845]
[ENSMUST00000101405]
[ENSMUST00000165099]
[ENSMUST00000170142]
|
AlphaFold |
Q9Z2D3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031845
AA Change: S340A
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000031845 Gene: ENSMUSG00000029821 AA Change: S340A
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
1 |
473 |
4.8e-167 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101405
AA Change: S340A
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000098952 Gene: ENSMUSG00000029821 AA Change: S340A
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
1 |
399 |
2e-126 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165099
AA Change: S340A
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000130522 Gene: ENSMUSG00000029821 AA Change: S340A
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
1 |
424 |
1.7e-136 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170142
AA Change: S340A
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000126759 Gene: ENSMUSG00000029821 AA Change: S340A
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
1 |
473 |
2.3e-149 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.4%
|
Validation Efficiency |
100% (34/34) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice display abnormal numbers of cochlear hair cell but have normal hearing. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310011J03Rik |
T |
C |
10: 80,155,351 (GRCm39) |
D54G |
probably damaging |
Het |
Adra2b |
G |
T |
2: 127,205,755 (GRCm39) |
E86* |
probably null |
Het |
Cachd1 |
A |
T |
4: 100,848,062 (GRCm39) |
D1059V |
probably damaging |
Het |
Cd177 |
A |
G |
7: 24,453,817 (GRCm39) |
V358A |
probably benign |
Het |
Col25a1 |
A |
G |
3: 130,343,720 (GRCm39) |
K396R |
possibly damaging |
Het |
Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
Cyp4a30b |
G |
T |
4: 115,316,206 (GRCm39) |
A311S |
probably damaging |
Het |
Dse |
T |
C |
10: 34,029,429 (GRCm39) |
I554V |
probably benign |
Het |
Gabrg3 |
G |
A |
7: 57,031,412 (GRCm39) |
Q43* |
probably null |
Het |
Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
Gpr21 |
C |
A |
2: 37,408,324 (GRCm39) |
T290N |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,019,685 (GRCm39) |
V2152A |
possibly damaging |
Het |
Mamdc4 |
C |
T |
2: 25,455,785 (GRCm39) |
S840N |
probably benign |
Het |
Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
Or8i2 |
G |
A |
2: 86,852,054 (GRCm39) |
T278I |
probably benign |
Het |
Pah |
A |
G |
10: 87,357,866 (GRCm39) |
|
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,284,917 (GRCm39) |
S794T |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,309,990 (GRCm39) |
H108R |
probably damaging |
Het |
Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
Prkd1 |
A |
T |
12: 50,466,667 (GRCm39) |
|
probably benign |
Het |
Pwp1 |
C |
T |
10: 85,723,993 (GRCm39) |
P498L |
possibly damaging |
Het |
Rasa4 |
A |
G |
5: 136,131,147 (GRCm39) |
T414A |
possibly damaging |
Het |
Rbm26 |
A |
T |
14: 105,378,706 (GRCm39) |
L594I |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
Sorcs3 |
A |
G |
19: 48,592,343 (GRCm39) |
N336S |
probably benign |
Het |
Sspo |
A |
T |
6: 48,458,037 (GRCm39) |
E3269V |
possibly damaging |
Het |
Tlr4 |
A |
G |
4: 66,759,553 (GRCm39) |
E782G |
probably benign |
Het |
Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ttl |
T |
C |
2: 128,934,914 (GRCm39) |
V358A |
probably damaging |
Het |
Wdhd1 |
A |
G |
14: 47,481,258 (GRCm39) |
|
probably null |
Het |
Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
Het |
Zfp939 |
T |
C |
7: 39,122,792 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Gsdme |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00897:Gsdme
|
APN |
6 |
50,206,264 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01462:Gsdme
|
APN |
6 |
50,204,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01645:Gsdme
|
APN |
6 |
50,228,316 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01836:Gsdme
|
APN |
6 |
50,199,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R0060:Gsdme
|
UTSW |
6 |
50,198,009 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0060:Gsdme
|
UTSW |
6 |
50,198,009 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0110:Gsdme
|
UTSW |
6 |
50,223,107 (GRCm39) |
splice site |
probably benign |
|
R0396:Gsdme
|
UTSW |
6 |
50,198,087 (GRCm39) |
missense |
probably benign |
0.00 |
R0510:Gsdme
|
UTSW |
6 |
50,223,107 (GRCm39) |
splice site |
probably benign |
|
R0627:Gsdme
|
UTSW |
6 |
50,206,259 (GRCm39) |
splice site |
probably benign |
|
R1350:Gsdme
|
UTSW |
6 |
50,223,108 (GRCm39) |
splice site |
probably null |
|
R1992:Gsdme
|
UTSW |
6 |
50,185,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R2869:Gsdme
|
UTSW |
6 |
50,185,157 (GRCm39) |
nonsense |
probably null |
|
R2869:Gsdme
|
UTSW |
6 |
50,185,157 (GRCm39) |
nonsense |
probably null |
|
R2973:Gsdme
|
UTSW |
6 |
50,206,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R2974:Gsdme
|
UTSW |
6 |
50,206,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R3154:Gsdme
|
UTSW |
6 |
50,228,343 (GRCm39) |
missense |
probably damaging |
0.99 |
R3816:Gsdme
|
UTSW |
6 |
50,196,391 (GRCm39) |
missense |
probably benign |
0.41 |
R3819:Gsdme
|
UTSW |
6 |
50,196,391 (GRCm39) |
missense |
probably benign |
0.41 |
R4035:Gsdme
|
UTSW |
6 |
50,206,428 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4519:Gsdme
|
UTSW |
6 |
50,206,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R4669:Gsdme
|
UTSW |
6 |
50,185,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R4678:Gsdme
|
UTSW |
6 |
50,206,304 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5009:Gsdme
|
UTSW |
6 |
50,222,992 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5370:Gsdme
|
UTSW |
6 |
50,206,286 (GRCm39) |
missense |
probably damaging |
0.98 |
R5768:Gsdme
|
UTSW |
6 |
50,196,280 (GRCm39) |
nonsense |
probably null |
|
R5811:Gsdme
|
UTSW |
6 |
50,222,925 (GRCm39) |
missense |
probably benign |
0.02 |
R5975:Gsdme
|
UTSW |
6 |
50,204,339 (GRCm39) |
missense |
probably benign |
0.30 |
R6032:Gsdme
|
UTSW |
6 |
50,222,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R6032:Gsdme
|
UTSW |
6 |
50,222,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R6035:Gsdme
|
UTSW |
6 |
50,206,306 (GRCm39) |
missense |
probably damaging |
0.99 |
R6035:Gsdme
|
UTSW |
6 |
50,206,306 (GRCm39) |
missense |
probably damaging |
0.99 |
R6089:Gsdme
|
UTSW |
6 |
50,228,285 (GRCm39) |
missense |
probably damaging |
0.99 |
R6565:Gsdme
|
UTSW |
6 |
50,206,429 (GRCm39) |
missense |
probably damaging |
0.97 |
R6862:Gsdme
|
UTSW |
6 |
50,204,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R7169:Gsdme
|
UTSW |
6 |
50,204,358 (GRCm39) |
missense |
probably benign |
0.00 |
R7720:Gsdme
|
UTSW |
6 |
50,206,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AACACTATTTCCCAGCCCTG -3'
(R):5'- GGGCTCAGTGCTTGCTTTAC -3'
Sequencing Primer
(F):5'- GGTTTCCATACCTGCTAGTGCG -3'
(R):5'- CTTTACCTGGAGAGCGTAATGC -3'
|
Posted On |
2015-04-02 |