Incidental Mutation 'R3154:Gsdme'
ID |
263398 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gsdme
|
Ensembl Gene |
ENSMUSG00000029821 |
Gene Name |
gasdermin E |
Synonyms |
Dfna5h, Fin15, 2310037D07Rik, Dfna5, 4932441K13Rik |
MMRRC Submission |
040605-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3154 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
50167013-50240837 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 50228343 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 42
(R42G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126759
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031845]
[ENSMUST00000101405]
[ENSMUST00000165099]
[ENSMUST00000167893]
[ENSMUST00000170142]
|
AlphaFold |
Q9Z2D3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031845
AA Change: R42G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000031845 Gene: ENSMUSG00000029821 AA Change: R42G
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
1 |
473 |
4.8e-167 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101405
AA Change: R42G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000098952 Gene: ENSMUSG00000029821 AA Change: R42G
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
1 |
399 |
2e-126 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165099
AA Change: R42G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130522 Gene: ENSMUSG00000029821 AA Change: R42G
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
1 |
424 |
1.7e-136 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167893
AA Change: R42G
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132062 Gene: ENSMUSG00000029821 AA Change: R42G
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
1 |
123 |
5.3e-51 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170142
AA Change: R42G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126759 Gene: ENSMUSG00000029821 AA Change: R42G
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
1 |
473 |
2.3e-149 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
A |
C |
2: 152,282,744 (GRCm39) |
N200H |
probably damaging |
Het |
Abca17 |
T |
A |
17: 24,547,720 (GRCm39) |
D218V |
probably damaging |
Het |
Ap1b1 |
T |
C |
11: 4,973,135 (GRCm39) |
V326A |
possibly damaging |
Het |
Bdp1 |
A |
T |
13: 100,186,322 (GRCm39) |
V1710E |
probably damaging |
Het |
Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
Cnnm3 |
T |
A |
1: 36,560,303 (GRCm39) |
S608T |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
Cobll1 |
A |
T |
2: 64,937,394 (GRCm39) |
M406K |
probably benign |
Het |
Cyp2d34 |
T |
C |
15: 82,501,767 (GRCm39) |
K248E |
probably benign |
Het |
Dcdc2a |
A |
C |
13: 25,286,340 (GRCm39) |
I125L |
probably benign |
Het |
Dgat1 |
G |
A |
15: 76,386,721 (GRCm39) |
L439F |
probably benign |
Het |
Disc1 |
T |
A |
8: 125,862,043 (GRCm39) |
S472T |
probably damaging |
Het |
Dnajb3 |
C |
A |
1: 88,132,773 (GRCm39) |
V210F |
probably benign |
Het |
Fancd2 |
A |
G |
6: 113,570,230 (GRCm39) |
S1394G |
possibly damaging |
Het |
Fasn |
A |
T |
11: 120,698,765 (GRCm39) |
L2475Q |
probably damaging |
Het |
Fn1 |
A |
T |
1: 71,632,242 (GRCm39) |
C2335S |
probably damaging |
Het |
Gpld1 |
T |
C |
13: 25,127,603 (GRCm39) |
S2P |
unknown |
Het |
Gpld1 |
G |
T |
13: 25,140,146 (GRCm39) |
|
probably null |
Het |
Gsc2 |
G |
A |
16: 17,732,364 (GRCm39) |
R137W |
probably damaging |
Het |
Gtf3c5 |
T |
C |
2: 28,469,548 (GRCm39) |
T119A |
probably damaging |
Het |
Hs6st3 |
T |
C |
14: 120,106,389 (GRCm39) |
S266P |
probably damaging |
Het |
Htr2a |
T |
C |
14: 74,943,262 (GRCm39) |
F281L |
probably benign |
Het |
Hus1b |
T |
C |
13: 31,131,236 (GRCm39) |
K141R |
probably benign |
Het |
Ireb2 |
T |
C |
9: 54,793,230 (GRCm39) |
|
probably null |
Het |
Klhdc7a |
T |
A |
4: 139,693,024 (GRCm39) |
Y641F |
probably benign |
Het |
Kri1 |
T |
C |
9: 21,193,190 (GRCm39) |
E57G |
possibly damaging |
Het |
Map4 |
A |
G |
9: 109,828,860 (GRCm39) |
T82A |
probably benign |
Het |
Mthfr |
T |
G |
4: 148,136,061 (GRCm39) |
M353R |
probably benign |
Het |
Mtus2 |
A |
G |
5: 148,240,083 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
T |
A |
7: 141,346,473 (GRCm39) |
|
probably null |
Het |
Myo15a |
T |
A |
11: 60,370,186 (GRCm39) |
|
probably null |
Het |
Nynrin |
A |
T |
14: 56,101,044 (GRCm39) |
Q278L |
possibly damaging |
Het |
Pced1b |
T |
G |
15: 97,282,423 (GRCm39) |
|
probably null |
Het |
Penk |
T |
C |
4: 4,134,152 (GRCm39) |
D165G |
probably damaging |
Het |
Pfkm |
T |
A |
15: 98,016,090 (GRCm39) |
V90D |
probably damaging |
Het |
Pgk2 |
T |
A |
17: 40,519,134 (GRCm39) |
D98V |
probably damaging |
Het |
Psg28 |
C |
A |
7: 18,160,348 (GRCm39) |
A283S |
possibly damaging |
Het |
Rgl3 |
A |
G |
9: 21,892,070 (GRCm39) |
L338P |
probably damaging |
Het |
Rnf126 |
A |
T |
10: 79,597,465 (GRCm39) |
I149N |
probably damaging |
Het |
Ros1 |
T |
C |
10: 51,927,077 (GRCm39) |
H2181R |
probably benign |
Het |
Slc38a11 |
C |
T |
2: 65,160,679 (GRCm39) |
C305Y |
probably damaging |
Het |
Speg |
T |
A |
1: 75,378,186 (GRCm39) |
V798E |
probably damaging |
Het |
Spesp1 |
G |
A |
9: 62,189,376 (GRCm39) |
|
probably benign |
Het |
Styk1 |
A |
T |
6: 131,286,975 (GRCm39) |
Y84* |
probably null |
Het |
Syt2 |
T |
C |
1: 134,669,599 (GRCm39) |
L80P |
possibly damaging |
Het |
Tra2a |
C |
T |
6: 49,222,446 (GRCm39) |
|
probably benign |
Het |
Trim10 |
T |
A |
17: 37,182,580 (GRCm39) |
C149S |
probably damaging |
Het |
Vmn2r38 |
T |
C |
7: 9,097,689 (GRCm39) |
T135A |
probably benign |
Het |
Wipf1 |
A |
G |
2: 73,267,834 (GRCm39) |
V188A |
possibly damaging |
Het |
Yipf2 |
G |
A |
9: 21,501,197 (GRCm39) |
A67V |
probably benign |
Het |
Zfp759 |
A |
G |
13: 67,286,719 (GRCm39) |
E96G |
probably benign |
Het |
Zic3 |
G |
A |
X: 57,076,838 (GRCm39) |
V100M |
possibly damaging |
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 |
R3816:Gsdme
|
UTSW |
6 |
50,196,391 (GRCm39) |
missense |
probably benign |
0.41 |
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'- TAAGGCACACTTCTGTTCCAG -3'
(R):5'- ACCAACTGTAGTGCCCACAG -3'
Sequencing Primer
(F):5'- TCTGTTCCAGATGCCTAGAAGAGC -3'
(R):5'- GACTCCATATTTGACTCTATGGCAAC -3'
|
Posted On |
2015-02-05 |