Incidental Mutation 'IGL02645:Asic4'
| ID |
301933 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Asic4
|
| Ensembl Gene |
ENSMUSG00000033007 |
| Gene Name |
acid-sensing ion channel family member 4 |
| Synonyms |
Accn4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02645
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
75427080-75450987 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 75449998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037708]
[ENSMUST00000079205]
[ENSMUST00000094818]
[ENSMUST00000113577]
[ENSMUST00000124042]
[ENSMUST00000138683]
|
| AlphaFold |
Q7TNS7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037708
|
| SMART Domains |
Protein: ENSMUSP00000045598
Gene: ENSMUSG00000033007
| 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 benign
Transcript: ENSMUST00000079205
|
| SMART Domains |
Protein: ENSMUSP00000078199
Gene: ENSMUSG00000032997
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
Pfam:CHGN
|
262 |
761 |
5e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094818
|
| SMART Domains |
Protein: ENSMUSP00000092412
Gene: ENSMUSG00000032997
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CHGN
|
100 |
599 |
3.3e-174 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113577
|
| SMART Domains |
Protein: ENSMUSP00000109207
Gene: ENSMUSG00000033007
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124042
|
| SMART Domains |
Protein: ENSMUSP00000122057
Gene: ENSMUSG00000032997
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138683
|
| SMART Domains |
Protein: ENSMUSP00000117253
Gene: ENSMUSG00000032997
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194916
|
| Coding Region Coverage |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang4 |
T |
C |
14: 52,001,804 (GRCm39) |
Y48C |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,373,883 (GRCm39) |
M848K |
probably damaging |
Het |
| Apol7c |
A |
T |
15: 77,413,083 (GRCm39) |
S56T |
probably benign |
Het |
| Asxl1 |
A |
G |
2: 153,234,777 (GRCm39) |
K162R |
possibly damaging |
Het |
| Car12 |
T |
A |
9: 66,654,961 (GRCm39) |
H130Q |
probably benign |
Het |
| Cars1 |
T |
C |
7: 143,111,646 (GRCm39) |
E737G |
probably damaging |
Het |
| Ccdc141 |
G |
A |
2: 76,905,211 (GRCm39) |
R412* |
probably null |
Het |
| Cd36 |
T |
C |
5: 17,990,878 (GRCm39) |
T421A |
probably benign |
Het |
| Clasp2 |
T |
G |
9: 113,719,129 (GRCm39) |
M758R |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
| Ebf4 |
A |
G |
2: 130,203,761 (GRCm39) |
K471E |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,173,654 (GRCm39) |
D2353V |
probably damaging |
Het |
| Gm10136 |
A |
G |
19: 28,981,140 (GRCm39) |
|
probably benign |
Het |
| Intu |
A |
G |
3: 40,655,702 (GRCm39) |
I930V |
probably benign |
Het |
| Ndrg2 |
T |
A |
14: 52,143,979 (GRCm39) |
M300L |
possibly damaging |
Het |
| Nhs |
A |
G |
X: 160,942,054 (GRCm39) |
S111P |
probably benign |
Het |
| Nme8 |
T |
A |
13: 19,844,755 (GRCm39) |
L111F |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,818,947 (GRCm39) |
|
probably null |
Het |
| Or10g1b |
T |
A |
14: 52,627,958 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or12e13 |
C |
T |
2: 87,663,959 (GRCm39) |
T192M |
probably benign |
Het |
| Or4a76 |
T |
C |
2: 89,460,679 (GRCm39) |
T188A |
probably benign |
Het |
| Or4c116 |
T |
C |
2: 88,941,963 (GRCm39) |
R298G |
probably benign |
Het |
| Pcdhac2 |
G |
A |
18: 37,278,292 (GRCm39) |
G424D |
probably damaging |
Het |
| Pex3 |
T |
G |
10: 13,422,173 (GRCm39) |
E42D |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,943,311 (GRCm39) |
|
probably benign |
Het |
| Rpe65 |
T |
A |
3: 159,312,128 (GRCm39) |
I209N |
probably damaging |
Het |
| Rsl1 |
T |
A |
13: 67,330,273 (GRCm39) |
F240L |
probably benign |
Het |
| Rttn |
A |
T |
18: 89,128,810 (GRCm39) |
I1921F |
probably benign |
Het |
| Scn3a |
A |
T |
2: 65,344,871 (GRCm39) |
F539Y |
probably benign |
Het |
| Secisbp2 |
T |
A |
13: 51,836,496 (GRCm39) |
M767K |
probably damaging |
Het |
| Sipa1l3 |
C |
T |
7: 29,028,405 (GRCm39) |
|
probably null |
Het |
| Slfn8 |
T |
C |
11: 82,894,380 (GRCm39) |
N753S |
possibly damaging |
Het |
| Spmip6 |
A |
G |
4: 41,517,080 (GRCm39) |
V28A |
probably damaging |
Het |
| Sympk |
T |
G |
7: 18,786,349 (GRCm39) |
V984G |
probably damaging |
Het |
| Tacr3 |
A |
T |
3: 134,566,943 (GRCm39) |
D272V |
possibly damaging |
Het |
| Timd6 |
A |
G |
11: 46,477,047 (GRCm39) |
R167G |
probably benign |
Het |
| Tnpo3 |
G |
T |
6: 29,562,899 (GRCm39) |
S606* |
probably null |
Het |
| Zfp804a |
T |
C |
2: 81,884,220 (GRCm39) |
L29P |
possibly damaging |
Het |
| Zfp94 |
C |
T |
7: 24,003,179 (GRCm39) |
G88R |
probably benign |
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 |
|
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 |
|
|
R0705:Asic4
|
UTSW |
1 |
75,428,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation