Incidental Mutation 'R6862:Gsdme'
| ID |
535688 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsdme
|
| Ensembl Gene |
ENSMUSG00000029821 |
| Gene Name |
gasdermin E |
| Synonyms |
Dfna5h, Fin15, 2310037D07Rik, Dfna5, 4932441K13Rik |
| MMRRC Submission |
045026-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6862 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
50167013-50240837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 50204378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 193
(V193E)
|
| 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: V193E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031845
Gene: ENSMUSG00000029821
AA Change: V193E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
1 |
473 |
4.8e-167 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101405
AA Change: V193E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098952
Gene: ENSMUSG00000029821
AA Change: V193E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
1 |
399 |
2e-126 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165099
AA Change: V193E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130522
Gene: ENSMUSG00000029821
AA Change: V193E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
1 |
424 |
1.7e-136 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170142
AA Change: V193E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126759
Gene: ENSMUSG00000029821
AA Change: V193E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gasdermin
|
1 |
473 |
2.3e-149 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (57/58) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
C |
T |
3: 137,891,949 (GRCm39) |
|
probably benign |
Het |
| Adgra2 |
T |
A |
8: 27,603,465 (GRCm39) |
C417S |
probably damaging |
Het |
| Adgra2 |
C |
A |
8: 27,603,464 (GRCm39) |
H416Q |
probably benign |
Het |
| Aff3 |
C |
A |
1: 38,445,578 (GRCm39) |
R307L |
possibly damaging |
Het |
| Arhgap17 |
T |
C |
7: 122,921,124 (GRCm39) |
D121G |
probably damaging |
Het |
| Ascc3 |
G |
T |
10: 50,725,742 (GRCm39) |
R2155I |
probably null |
Het |
| Ccdc115 |
C |
T |
1: 34,478,364 (GRCm39) |
S19N |
possibly damaging |
Het |
| Ccser2 |
T |
C |
14: 36,662,038 (GRCm39) |
N382S |
probably benign |
Het |
| Cct6b |
A |
T |
11: 82,610,785 (GRCm39) |
V500E |
probably damaging |
Het |
| Cenpo |
A |
T |
12: 4,266,539 (GRCm39) |
Y190N |
probably damaging |
Het |
| Cfh |
T |
A |
1: 140,030,100 (GRCm39) |
K924N |
probably damaging |
Het |
| Col4a1 |
A |
G |
8: 11,252,926 (GRCm39) |
|
probably benign |
Het |
| Coro1b |
T |
C |
19: 4,200,770 (GRCm39) |
V234A |
probably benign |
Het |
| Crot |
T |
C |
5: 9,039,641 (GRCm39) |
K69E |
probably damaging |
Het |
| Cyp2d11 |
A |
T |
15: 82,274,339 (GRCm39) |
H347Q |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,612,284 (GRCm39) |
K636* |
probably null |
Het |
| Fbn2 |
T |
A |
18: 58,257,393 (GRCm39) |
I325F |
probably benign |
Het |
| Fbxw4 |
T |
A |
19: 45,571,187 (GRCm39) |
R41S |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,653,066 (GRCm39) |
I1308F |
probably benign |
Het |
| Frem1 |
C |
A |
4: 82,930,251 (GRCm39) |
E232* |
probably null |
Het |
| Gabrg3 |
T |
C |
7: 56,423,059 (GRCm39) |
Q213R |
possibly damaging |
Het |
| Garin3 |
G |
A |
11: 46,298,418 (GRCm39) |
G574D |
possibly damaging |
Het |
| Hadha |
C |
A |
5: 30,352,977 (GRCm39) |
|
probably null |
Het |
| Hdgfl2 |
C |
A |
17: 56,406,211 (GRCm39) |
A533E |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,006,327 (GRCm39) |
F975S |
probably damaging |
Het |
| Htatip2 |
T |
A |
7: 49,420,666 (GRCm39) |
S171T |
probably benign |
Het |
| Ift57 |
A |
T |
16: 49,584,167 (GRCm39) |
I307F |
possibly damaging |
Het |
| Il22 |
A |
T |
10: 118,041,715 (GRCm39) |
R110W |
probably benign |
Het |
| Kcnk13 |
G |
T |
12: 100,027,948 (GRCm39) |
R341L |
probably damaging |
Het |
| Kif2b |
G |
A |
11: 91,466,741 (GRCm39) |
T514M |
probably damaging |
Het |
| Kmt2c |
A |
C |
5: 25,515,515 (GRCm39) |
I2776S |
probably damaging |
Het |
| Ly9 |
T |
C |
1: 171,428,723 (GRCm39) |
D189G |
probably benign |
Het |
| Mal2 |
T |
C |
15: 54,451,753 (GRCm39) |
V58A |
probably damaging |
Het |
| Mettl21e |
T |
A |
1: 44,245,526 (GRCm39) |
N240I |
probably benign |
Het |
| Msantd5f1 |
A |
G |
4: 73,605,621 (GRCm39) |
N344S |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Nacc1 |
G |
A |
8: 85,399,844 (GRCm39) |
R458C |
probably damaging |
Het |
| Ncapd3 |
T |
C |
9: 26,942,105 (GRCm39) |
C14R |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,886,279 (GRCm39) |
|
probably benign |
Het |
| Or13c3 |
A |
G |
4: 52,855,695 (GRCm39) |
F273L |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,234 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or8d23 |
T |
A |
9: 38,841,772 (GRCm39) |
F102I |
possibly damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Pde4dip |
C |
A |
3: 97,674,340 (GRCm39) |
R192L |
possibly damaging |
Het |
| Pdlim4 |
C |
A |
11: 53,946,674 (GRCm39) |
E204D |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,853,063 (GRCm39) |
Q1049R |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,985,103 (GRCm39) |
L1464P |
probably damaging |
Het |
| Psg25 |
C |
T |
7: 18,255,323 (GRCm39) |
V398I |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,522,086 (GRCm39) |
N622Y |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Tex36 |
A |
G |
7: 133,189,002 (GRCm39) |
L190P |
probably benign |
Het |
| Tk1 |
A |
G |
11: 117,707,320 (GRCm39) |
C156R |
probably damaging |
Het |
| Tmem144 |
T |
A |
3: 79,739,406 (GRCm39) |
M126L |
probably benign |
Het |
| Tmem208 |
G |
A |
8: 106,054,862 (GRCm39) |
|
probably null |
Het |
| Trappc13 |
T |
C |
13: 104,286,660 (GRCm39) |
Q199R |
probably damaging |
Het |
| Trim30b |
T |
A |
7: 104,012,960 (GRCm39) |
K156N |
probably damaging |
Het |
| Trps1 |
A |
G |
15: 50,695,001 (GRCm39) |
|
probably null |
Het |
| Washc4 |
T |
A |
10: 83,394,757 (GRCm39) |
F329Y |
possibly damaging |
Het |
| Zbed5 |
T |
G |
5: 129,932,026 (GRCm39) |
D658E |
probably benign |
Het |
| Zfyve28 |
T |
G |
5: 34,445,449 (GRCm39) |
K11N |
probably benign |
Het |
| Zp1 |
C |
T |
19: 10,893,877 (GRCm39) |
V443I |
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 |
|
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 |
|
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'- TCAGATCCTAGACACTCCGC -3'
(R):5'- TTTGGTTCCATTAATCACAGCACTG -3'
Sequencing Primer
(F):5'- GATCCTAGACACTCCGCTACCC -3'
(R):5'- ATATGGTATGTTGTTGCCAAAGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation