Incidental Mutation 'R0705:Asic4'
| ID |
63112 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asic4
|
| Ensembl Gene |
ENSMUSG00000033007 |
| Gene Name |
acid-sensing ion channel family member 4 |
| Synonyms |
Accn4 |
| MMRRC Submission |
038888-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0705 (G1)
|
| Quality Score |
191 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
75427080-75450987 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 75428014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 180
(C180F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037708]
[ENSMUST00000113577]
|
| AlphaFold |
Q7TNS7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037708
AA Change: C180F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045598
Gene: ENSMUSG00000033007
AA Change: C180F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
Pfam:ASC
|
45 |
464 |
5.3e-92 |
PFAM |
|
low complexity region
|
507 |
533 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113577
AA Change: C180F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109207
Gene: ENSMUSG00000033007
AA Change: C180F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
Pfam:ASC
|
45 |
346 |
5.5e-94 |
PFAM |
|
Pfam:ASC
|
344 |
446 |
1.4e-42 |
PFAM |
|
low complexity region
|
488 |
514 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous knockout increases the fear response in the predator-odor induced fear test and increases anxiety in open field and elevated plus maze tests. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc106 |
G |
A |
7: 5,062,539 (GRCm39) |
D11N |
possibly damaging |
Het |
| Crebbp |
A |
C |
16: 3,972,874 (GRCm39) |
S273R |
possibly damaging |
Het |
| Dpy19l3 |
T |
A |
7: 35,394,741 (GRCm39) |
Y599F |
probably damaging |
Het |
| Ecpas |
A |
T |
4: 58,885,366 (GRCm39) |
|
probably null |
Het |
| Fam234b |
A |
T |
6: 135,204,213 (GRCm39) |
D452V |
probably benign |
Het |
| Fbxw22 |
G |
T |
9: 109,232,164 (GRCm39) |
H78N |
possibly damaging |
Het |
| Hpgd |
T |
C |
8: 56,748,074 (GRCm39) |
V65A |
probably damaging |
Het |
| Impg1 |
A |
T |
9: 80,287,261 (GRCm39) |
L395Q |
probably damaging |
Het |
| Kcnq5 |
A |
G |
1: 21,605,401 (GRCm39) |
M168T |
probably damaging |
Het |
| Spink5 |
T |
A |
18: 44,125,341 (GRCm39) |
M403K |
probably benign |
Het |
| Ssxb9 |
T |
G |
X: 8,238,022 (GRCm39) |
S130R |
probably damaging |
Het |
|
| Other mutations in Asic4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01399:Asic4
|
APN |
1 |
75,445,790 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01470:Asic4
|
APN |
1 |
75,427,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02645:Asic4
|
APN |
1 |
75,449,998 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03002:Asic4
|
APN |
1 |
75,427,967 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
positron
|
UTSW |
1 |
75,449,687 (GRCm39) |
nonsense |
probably null |
|
|
PIT4445001:Asic4
|
UTSW |
1 |
75,427,771 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0106:Asic4
|
UTSW |
1 |
75,427,771 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0138:Asic4
|
UTSW |
1 |
75,446,331 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0453:Asic4
|
UTSW |
1 |
75,450,155 (GRCm39) |
unclassified |
probably benign |
|
|
R0573:Asic4
|
UTSW |
1 |
75,445,746 (GRCm39) |
splice site |
probably benign |
|
|
R1892:Asic4
|
UTSW |
1 |
75,446,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Asic4
|
UTSW |
1 |
75,445,876 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3614:Asic4
|
UTSW |
1 |
75,449,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3790:Asic4
|
UTSW |
1 |
75,446,485 (GRCm39) |
unclassified |
probably benign |
|
|
R3923:Asic4
|
UTSW |
1 |
75,427,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4447:Asic4
|
UTSW |
1 |
75,447,014 (GRCm39) |
unclassified |
probably benign |
|
|
R5177:Asic4
|
UTSW |
1 |
75,427,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5208:Asic4
|
UTSW |
1 |
75,427,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5266:Asic4
|
UTSW |
1 |
75,427,567 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5436:Asic4
|
UTSW |
1 |
75,427,963 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5921:Asic4
|
UTSW |
1 |
75,428,017 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6086:Asic4
|
UTSW |
1 |
75,449,887 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6512:Asic4
|
UTSW |
1 |
75,449,687 (GRCm39) |
nonsense |
probably null |
|
|
R6530:Asic4
|
UTSW |
1 |
75,448,979 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7545:Asic4
|
UTSW |
1 |
75,449,060 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9129:Asic4
|
UTSW |
1 |
75,446,469 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9322:Asic4
|
UTSW |
1 |
75,446,462 (GRCm39) |
missense |
probably benign |
0.38 |
|
Z1177:Asic4
|
UTSW |
1 |
75,445,864 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCAACATCAACCGCTTCCG -3'
(R):5'- GTAAGCCCTTCTGAGCATCCACTG -3'
Sequencing Primer
(F):5'- AACCGCTTCCGGCACTC -3'
(R):5'- TCCACTGCTCCTGGACTGAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation