Incidental Mutation 'R6565:Gsdme'
| ID |
522613 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsdme
|
| Ensembl Gene |
ENSMUSG00000029821 |
| Gene Name |
gasdermin E |
| Synonyms |
Dfna5h, Fin15, 2310037D07Rik, Dfna5, 4932441K13Rik |
| MMRRC Submission |
044689-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6565 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
50167013-50240837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50206429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 138
(N138S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031845]
[ENSMUST00000101405]
[ENSMUST00000165099]
[ENSMUST00000170142]
|
| AlphaFold |
Q9Z2D3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031845
AA Change: N138S
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031845
Gene: ENSMUSG00000029821
AA Change: N138S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
1 |
473 |
4.8e-167 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101405
AA Change: N138S
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000098952
Gene: ENSMUSG00000029821
AA Change: N138S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
1 |
399 |
2e-126 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165099
AA Change: N138S
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000130522
Gene: ENSMUSG00000029821
AA Change: N138S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
1 |
424 |
1.7e-136 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170142
AA Change: N138S
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126759
Gene: ENSMUSG00000029821
AA Change: N138S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
1 |
473 |
2.3e-149 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
C |
A |
15: 60,792,659 (GRCm39) |
C96F |
probably damaging |
Het |
| Abca7 |
C |
T |
10: 79,847,622 (GRCm39) |
P1764L |
probably damaging |
Het |
| Acvr1 |
G |
A |
2: 58,369,769 (GRCm39) |
T80M |
probably damaging |
Het |
| Adgrb2 |
T |
C |
4: 129,913,069 (GRCm39) |
L1398P |
probably damaging |
Het |
| B4galnt3 |
G |
A |
6: 120,194,440 (GRCm39) |
Q362* |
probably null |
Het |
| Cadm3 |
G |
T |
1: 173,169,276 (GRCm39) |
Q246K |
possibly damaging |
Het |
| Cdc14b |
T |
C |
13: 64,373,444 (GRCm39) |
T110A |
probably benign |
Het |
| Cyp2c55 |
A |
C |
19: 39,030,566 (GRCm39) |
D466A |
probably benign |
Het |
| Dmrtb1 |
T |
C |
4: 107,536,542 (GRCm39) |
Y308C |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,826,623 (GRCm39) |
D4443G |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Grin2d |
A |
G |
7: 45,484,179 (GRCm39) |
L772P |
probably damaging |
Het |
| Hmgb4 |
T |
A |
4: 128,154,388 (GRCm39) |
Y60F |
probably benign |
Het |
| Ift172 |
G |
A |
5: 31,433,227 (GRCm39) |
A554V |
possibly damaging |
Het |
| Iigp1 |
T |
A |
18: 60,523,839 (GRCm39) |
V319E |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,806,513 (GRCm39) |
T673A |
probably damaging |
Het |
| Lilra6 |
A |
T |
7: 3,918,019 (GRCm39) |
W42R |
probably benign |
Het |
| Mia3 |
A |
T |
1: 183,112,340 (GRCm39) |
H477Q |
probably damaging |
Het |
| Oas1b |
C |
A |
5: 120,952,611 (GRCm39) |
Q101K |
possibly damaging |
Het |
| Or2v1 |
A |
G |
11: 49,025,639 (GRCm39) |
M207V |
probably damaging |
Het |
| Or51a5 |
T |
C |
7: 102,771,445 (GRCm39) |
H178R |
probably damaging |
Het |
| Plcl1 |
T |
A |
1: 55,737,117 (GRCm39) |
C819* |
probably null |
Het |
| Pmfbp1 |
C |
T |
8: 110,252,060 (GRCm39) |
Q402* |
probably null |
Het |
| Rps19bp1 |
CCTTCTTCTTCTTCTTCTTCTT |
CCTTCTTCTTCTTCTTCTT |
15: 80,145,250 (GRCm39) |
|
probably benign |
Het |
| Skor2 |
C |
G |
18: 76,947,607 (GRCm39) |
A443G |
possibly damaging |
Het |
| Tapbpl |
A |
G |
6: 125,205,307 (GRCm39) |
V213A |
probably benign |
Het |
| Trim52 |
G |
A |
14: 106,344,653 (GRCm39) |
D104N |
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 |
|
|
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 |
|
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'- GGAAAGTTCTCCATGCCGAG -3'
(R):5'- GCACTTCTTCCAGTGTCCAG -3'
Sequencing Primer
(F):5'- AAGTTCTCCATGCCGAGGTGTG -3'
(R):5'- AGTGGCCTCAGGAGAGCTTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation