Incidental Mutation 'R5811:Gsdme'
ID |
447514 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gsdme
|
Ensembl Gene |
ENSMUSG00000029821 |
Gene Name |
gasdermin E |
Synonyms |
Dfna5h, Fin15, 2310037D07Rik, Dfna5, 4932441K13Rik |
MMRRC Submission |
043213-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5811 (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 A
at 50222925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 130
(Q130L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126759
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031845]
[ENSMUST00000101405]
[ENSMUST00000165099]
[ENSMUST00000167893]
[ENSMUST00000170142]
|
AlphaFold |
Q9Z2D3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031845
AA Change: Q130L
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000031845 Gene: ENSMUSG00000029821 AA Change: Q130L
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
1 |
473 |
4.8e-167 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101405
AA Change: Q130L
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000098952 Gene: ENSMUSG00000029821 AA Change: Q130L
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
1 |
399 |
2e-126 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165099
AA Change: Q130L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000130522 Gene: ENSMUSG00000029821 AA Change: Q130L
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
1 |
424 |
1.7e-136 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167893
|
SMART Domains |
Protein: ENSMUSP00000132062 Gene: ENSMUSG00000029821
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
1 |
123 |
5.3e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170142
AA Change: Q130L
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000126759 Gene: ENSMUSG00000029821 AA Change: Q130L
Domain | Start | End | E-Value | Type |
Pfam:Gasdermin
|
1 |
473 |
2.3e-149 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Btnl1 |
A |
T |
17: 34,604,503 (GRCm39) |
K428M |
probably damaging |
Het |
Chid1 |
G |
A |
7: 141,110,166 (GRCm39) |
T53M |
probably damaging |
Het |
Clnk |
A |
G |
5: 38,870,490 (GRCm39) |
V356A |
probably damaging |
Het |
Cryba4 |
C |
T |
5: 112,398,937 (GRCm39) |
V36I |
probably benign |
Het |
Dct |
A |
G |
14: 118,250,600 (GRCm39) |
V466A |
probably benign |
Het |
Dnmt3l |
A |
G |
10: 77,887,929 (GRCm39) |
D146G |
possibly damaging |
Het |
Epas1 |
A |
G |
17: 87,131,203 (GRCm39) |
N328D |
probably damaging |
Het |
Fat4 |
C |
T |
3: 38,945,936 (GRCm39) |
R1610W |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,390,657 (GRCm39) |
V415A |
probably damaging |
Het |
Garnl3 |
A |
G |
2: 32,896,911 (GRCm39) |
L576P |
probably damaging |
Het |
Gjd3 |
A |
T |
11: 98,873,226 (GRCm39) |
V206E |
possibly damaging |
Het |
Gpr135 |
A |
T |
12: 72,116,641 (GRCm39) |
D375E |
possibly damaging |
Het |
Hcls1 |
A |
G |
16: 36,777,702 (GRCm39) |
M274V |
probably null |
Het |
Kcnn4 |
T |
C |
7: 24,077,030 (GRCm39) |
V193A |
probably damaging |
Het |
Kctd16 |
T |
C |
18: 40,391,505 (GRCm39) |
V31A |
probably damaging |
Het |
Lamc2 |
C |
T |
1: 153,041,999 (GRCm39) |
R45Q |
possibly damaging |
Het |
Lrrc66 |
T |
A |
5: 73,772,860 (GRCm39) |
I203F |
possibly damaging |
Het |
Mark4 |
T |
C |
7: 19,182,564 (GRCm39) |
D91G |
probably damaging |
Het |
Mcm6 |
A |
T |
1: 128,263,465 (GRCm39) |
|
probably benign |
Het |
Mecom |
C |
T |
3: 30,015,149 (GRCm39) |
S602N |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,352,721 (GRCm39) |
V736A |
possibly damaging |
Het |
Nr2e3 |
TCCATCGGAGTGTTCCC |
TC |
9: 59,850,701 (GRCm39) |
|
probably benign |
Het |
Or2h2c |
C |
A |
17: 37,422,649 (GRCm39) |
C75F |
probably benign |
Het |
Pdia5 |
A |
T |
16: 35,269,790 (GRCm39) |
M173K |
possibly damaging |
Het |
Pih1d2 |
T |
C |
9: 50,532,374 (GRCm39) |
L144P |
probably damaging |
Het |
Plch2 |
C |
T |
4: 155,077,024 (GRCm39) |
E577K |
possibly damaging |
Het |
Samd4b |
T |
C |
7: 28,107,445 (GRCm39) |
S275G |
probably damaging |
Het |
Sap130 |
T |
C |
18: 31,822,495 (GRCm39) |
V668A |
probably benign |
Het |
Sema3c |
T |
A |
5: 17,880,188 (GRCm39) |
|
probably null |
Het |
Slc9a8 |
C |
T |
2: 167,313,307 (GRCm39) |
R390* |
probably null |
Het |
Vmn2r89 |
A |
T |
14: 51,693,565 (GRCm39) |
N305I |
probably benign |
Het |
Wdr33 |
T |
C |
18: 32,035,673 (GRCm39) |
F1164L |
unknown |
Het |
Zfp873 |
T |
A |
10: 81,896,567 (GRCm39) |
C470S |
probably 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 |
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 |
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 |
|
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'- GCCTGGACTAAATCTTCCCAC -3'
(R):5'- CAGTGGTTGTGGAGTCAGAC -3'
Sequencing Primer
(F):5'- CGAGTCAATTTAAGAGCCTATGACC -3'
(R):5'- TGTGGAGTCAGACTTCGTGAAATAC -3'
|
Posted On |
2016-12-15 |