Incidental Mutation 'R3816:Gsdme'
ID |
274302 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gsdme
|
Ensembl Gene |
ENSMUSG00000029821 |
Gene Name |
gasdermin E |
Synonyms |
Dfna5h, Fin15, 2310037D07Rik, Dfna5, 4932441K13Rik |
MMRRC Submission |
040881-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3816 (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: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
Validation Efficiency |
100% (62/62) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
C |
6: 86,936,024 (GRCm39) |
|
probably benign |
Het |
Abca2 |
A |
G |
2: 25,336,083 (GRCm39) |
Y2151C |
probably damaging |
Het |
Adamts3 |
T |
A |
5: 89,853,123 (GRCm39) |
H509L |
probably damaging |
Het |
Agfg2 |
T |
C |
5: 137,652,036 (GRCm39) |
D441G |
probably benign |
Het |
Arl8b |
T |
A |
6: 108,790,658 (GRCm39) |
V65D |
probably damaging |
Het |
As3mt |
A |
T |
19: 46,696,216 (GRCm39) |
D8V |
probably benign |
Het |
Ass1 |
G |
T |
2: 31,400,117 (GRCm39) |
|
probably benign |
Het |
Cdc42bpa |
A |
G |
1: 179,972,451 (GRCm39) |
I634V |
possibly damaging |
Het |
Cflar |
T |
C |
1: 58,791,582 (GRCm39) |
V298A |
probably benign |
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 |
Dlec1 |
C |
T |
9: 118,953,911 (GRCm39) |
A610V |
probably damaging |
Het |
Dock1 |
C |
T |
7: 134,346,015 (GRCm39) |
R186* |
probably null |
Het |
E130018O15Rik |
T |
C |
5: 35,540,110 (GRCm39) |
|
noncoding transcript |
Het |
Gabrg3 |
G |
A |
7: 57,031,412 (GRCm39) |
Q43* |
probably null |
Het |
Gipc2 |
T |
C |
3: 151,871,481 (GRCm39) |
K15R |
probably benign |
Het |
Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
Glipr2 |
G |
T |
4: 43,977,522 (GRCm39) |
A51S |
possibly damaging |
Het |
H2-M10.2 |
A |
T |
17: 36,597,254 (GRCm39) |
Y20* |
probably null |
Het |
Hapstr1 |
T |
A |
16: 8,648,358 (GRCm39) |
I12N |
probably damaging |
Het |
Hlcs |
A |
G |
16: 93,933,947 (GRCm39) |
V242A |
probably benign |
Het |
Ifi44 |
T |
C |
3: 151,454,894 (GRCm39) |
I110M |
possibly damaging |
Het |
Il18r1 |
T |
C |
1: 40,526,132 (GRCm39) |
|
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Khk |
T |
C |
5: 31,084,060 (GRCm39) |
S80P |
probably damaging |
Het |
Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
Myo1g |
A |
G |
11: 6,460,926 (GRCm39) |
V706A |
probably benign |
Het |
Npat |
T |
C |
9: 53,481,216 (GRCm39) |
S1008P |
probably damaging |
Het |
Or2ag18 |
A |
G |
7: 106,405,027 (GRCm39) |
I214T |
probably damaging |
Het |
Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
Pcdha2 |
A |
G |
18: 37,074,748 (GRCm39) |
Y793C |
probably benign |
Het |
Pcdhb4 |
A |
T |
18: 37,441,065 (GRCm39) |
D125V |
probably damaging |
Het |
Pdgfrb |
A |
G |
18: 61,212,017 (GRCm39) |
D844G |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,844,834 (GRCm39) |
D1375G |
probably damaging |
Het |
Pigu |
A |
T |
2: 155,141,063 (GRCm39) |
F276I |
probably damaging |
Het |
Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
Rac2 |
T |
C |
15: 78,450,199 (GRCm39) |
D47G |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sall1 |
G |
T |
8: 89,759,303 (GRCm39) |
A267E |
probably benign |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Serpina3k |
A |
G |
12: 104,307,221 (GRCm39) |
E151G |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
Slc51b |
A |
G |
9: 65,321,300 (GRCm39) |
|
probably benign |
Het |
Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
Sspo |
A |
T |
6: 48,458,037 (GRCm39) |
E3269V |
possibly damaging |
Het |
Star |
G |
A |
8: 26,299,905 (GRCm39) |
M82I |
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 |
Usp32 |
A |
G |
11: 84,885,210 (GRCm39) |
|
probably null |
Het |
Vmn2r18 |
T |
C |
5: 151,485,148 (GRCm39) |
N782S |
probably benign |
Het |
Vwa3a |
A |
G |
7: 120,399,602 (GRCm39) |
T1028A |
probably benign |
Het |
Xrn2 |
G |
A |
2: 146,870,120 (GRCm39) |
G270R |
probably damaging |
Het |
Zbbx |
G |
T |
3: 74,992,802 (GRCm39) |
Q231K |
probably benign |
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 |
R3818: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'- AAAAGGGCTCAGTGCTTGC -3'
Sequencing Primer
(F):5'- GGTTTCCATACCTGCTAGTGCG -3'
(R):5'- AAAAGGGCTCAGTGCTTGCTTTAC -3'
|
Posted On |
2015-04-02 |