Incidental Mutation 'R1350:Gsdme'
| ID |
159526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsdme
|
| Ensembl Gene |
ENSMUSG00000029821 |
| Gene Name |
gasdermin E |
| Synonyms |
Dfna5h, Fin15, 2310037D07Rik, Dfna5, 4932441K13Rik |
| MMRRC Submission |
039415-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1350 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
50167013-50240837 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 50223108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031845]
[ENSMUST00000031845]
[ENSMUST00000101405]
[ENSMUST00000101405]
[ENSMUST00000165099]
[ENSMUST00000165099]
[ENSMUST00000167893]
[ENSMUST00000167893]
[ENSMUST00000170142]
[ENSMUST00000170142]
|
| AlphaFold |
Q9Z2D3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031845
|
| SMART Domains |
Protein: ENSMUSP00000031845
Gene: ENSMUSG00000029821
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
1 |
473 |
4.8e-167 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000031845
|
| SMART Domains |
Protein: ENSMUSP00000031845
Gene: ENSMUSG00000029821
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
1 |
473 |
4.8e-167 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000101405
|
| SMART Domains |
Protein: ENSMUSP00000098952
Gene: ENSMUSG00000029821
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
1 |
399 |
2e-126 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000101405
|
| SMART Domains |
Protein: ENSMUSP00000098952
Gene: ENSMUSG00000029821
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
1 |
399 |
2e-126 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000165099
|
| SMART Domains |
Protein: ENSMUSP00000130522
Gene: ENSMUSG00000029821
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
1 |
424 |
1.7e-136 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000165099
|
| SMART Domains |
Protein: ENSMUSP00000130522
Gene: ENSMUSG00000029821
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
1 |
424 |
1.7e-136 |
PFAM |
|
| Predicted Effect |
probably null
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 null
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 null
Transcript: ENSMUST00000170142
|
| SMART Domains |
Protein: ENSMUSP00000126759
Gene: ENSMUSG00000029821
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
1 |
473 |
2.3e-149 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170142
|
| SMART Domains |
Protein: ENSMUSP00000126759
Gene: ENSMUSG00000029821
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
1 |
473 |
2.3e-149 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.1%
|
| Validation Efficiency |
95% (57/60) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago4 |
A |
G |
4: 126,400,925 (GRCm39) |
V640A |
probably benign |
Het |
| AI661453 |
C |
T |
17: 47,778,853 (GRCm39) |
Q860* |
probably null |
Het |
| Atp10d |
A |
G |
5: 72,418,469 (GRCm39) |
|
probably benign |
Het |
| Axdnd1 |
A |
G |
1: 156,205,950 (GRCm39) |
|
probably null |
Het |
| Bivm |
T |
A |
1: 44,165,863 (GRCm39) |
N104K |
possibly damaging |
Het |
| Capn15 |
A |
G |
17: 26,183,666 (GRCm39) |
S338P |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ccn6 |
C |
T |
10: 39,034,302 (GRCm39) |
C100Y |
probably damaging |
Het |
| Col13a1 |
G |
A |
10: 61,729,848 (GRCm39) |
|
probably benign |
Het |
| Crb2 |
A |
G |
2: 37,682,081 (GRCm39) |
N821D |
probably damaging |
Het |
| D5Ertd579e |
T |
A |
5: 36,771,081 (GRCm39) |
I1105F |
probably damaging |
Het |
| Dnaja2 |
A |
T |
8: 86,266,717 (GRCm39) |
F337I |
probably damaging |
Het |
| Dntt |
C |
T |
19: 41,025,578 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,791,831 (GRCm39) |
E1381K |
possibly damaging |
Het |
| Fibp |
T |
C |
19: 5,511,419 (GRCm39) |
Y96H |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,942,226 (GRCm39) |
V85A |
probably damaging |
Het |
| Gucy2c |
A |
T |
6: 136,720,912 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
G |
12: 51,809,217 (GRCm39) |
V1748A |
probably benign |
Het |
| Hepacam2 |
G |
A |
6: 3,467,530 (GRCm39) |
Q384* |
probably null |
Het |
| Itga10 |
T |
A |
3: 96,564,793 (GRCm39) |
M961K |
probably benign |
Het |
| Kcnk1 |
C |
T |
8: 126,751,967 (GRCm39) |
T191I |
probably benign |
Het |
| Khdrbs1 |
G |
A |
4: 129,614,545 (GRCm39) |
P336L |
probably benign |
Het |
| Klhdc2 |
T |
A |
12: 69,352,484 (GRCm39) |
|
probably null |
Het |
| Lipc |
T |
C |
9: 70,705,649 (GRCm39) |
H478R |
probably benign |
Het |
| Lrp12 |
A |
T |
15: 39,741,646 (GRCm39) |
C356* |
probably null |
Het |
| Nf1 |
T |
A |
11: 79,303,513 (GRCm39) |
C397S |
probably damaging |
Het |
| Nox3 |
A |
G |
17: 3,700,396 (GRCm39) |
F439S |
probably damaging |
Het |
| Or12e9 |
T |
A |
2: 87,202,701 (GRCm39) |
V275E |
probably benign |
Het |
| Or13a18 |
T |
C |
7: 140,190,622 (GRCm39) |
V181A |
probably damaging |
Het |
| Or3a1b |
T |
C |
11: 74,013,039 (GRCm39) |
L308P |
possibly damaging |
Het |
| Or4b12 |
A |
T |
2: 90,096,690 (GRCm39) |
L28Q |
probably damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,937 (GRCm39) |
W2R |
probably benign |
Het |
| Or7g29 |
T |
G |
9: 19,286,710 (GRCm39) |
S156R |
possibly damaging |
Het |
| Or8b37 |
G |
A |
9: 37,959,111 (GRCm39) |
V198I |
probably benign |
Het |
| Pcif1 |
T |
C |
2: 164,728,687 (GRCm39) |
F288L |
probably damaging |
Het |
| Prxl2b |
C |
A |
4: 154,982,585 (GRCm39) |
R107L |
probably damaging |
Het |
| Skint7 |
G |
T |
4: 111,837,521 (GRCm39) |
A100S |
possibly damaging |
Het |
| Ssu2 |
A |
T |
6: 112,351,807 (GRCm39) |
L306* |
probably null |
Het |
| Tasp1 |
T |
C |
2: 139,899,341 (GRCm39) |
E4G |
probably damaging |
Het |
| Tfb1m |
A |
T |
17: 3,595,955 (GRCm39) |
D99E |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,544,198 (GRCm39) |
|
probably null |
Het |
| Uox |
A |
G |
3: 146,330,330 (GRCm39) |
D162G |
probably damaging |
Het |
| Usp18 |
A |
G |
6: 121,239,651 (GRCm39) |
T249A |
possibly damaging |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,886 (GRCm39) |
N177S |
probably benign |
Het |
| Vwa2 |
T |
A |
19: 56,897,558 (GRCm39) |
M621K |
probably damaging |
Het |
| Wdfy3 |
C |
A |
5: 102,046,418 (GRCm39) |
D1797Y |
probably damaging |
Het |
| Ylpm1 |
A |
T |
12: 85,060,856 (GRCm39) |
|
probably benign |
Het |
| Zbtb9 |
G |
A |
17: 27,193,380 (GRCm39) |
V262I |
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 |
|
|
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 |
|
|
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'- CCATTAAGCAGGGCAGTTACAGGAG -3'
(R):5'- GTGGCTAAAGAGGGGCTAATCACC -3'
Sequencing Primer
(F):5'- atatcacgagtcaatttaagagcc -3'
(R):5'- GTCCAGGACTATACTCTGTCAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation