Incidental Mutation 'IGL01470:Asic4'
| ID |
88257 |
| 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 # |
IGL01470
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
75427080-75450987 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 75427510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 12
(A12V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037708]
[ENSMUST00000113577]
|
| AlphaFold |
Q7TNS7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037708
AA Change: A12V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045598
Gene: ENSMUSG00000033007
AA Change: A12V
| 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: A12V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109207
Gene: ENSMUSG00000033007
AA Change: A12V
| 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 |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,382,414 (GRCm39) |
T1184A |
possibly damaging |
Het |
| A2ml1 |
A |
G |
6: 128,557,375 (GRCm39) |
I106T |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,821,099 (GRCm39) |
V1139D |
probably damaging |
Het |
| Edc4 |
T |
C |
8: 106,616,613 (GRCm39) |
|
probably benign |
Het |
| Eif4h |
A |
T |
5: 134,654,393 (GRCm39) |
|
probably null |
Het |
| Exog |
C |
A |
9: 119,291,592 (GRCm39) |
Q290K |
probably damaging |
Het |
| Fam83c |
A |
T |
2: 155,676,728 (GRCm39) |
I14K |
possibly damaging |
Het |
| Fes |
A |
T |
7: 80,033,021 (GRCm39) |
Y268N |
probably benign |
Het |
| Fhod1 |
A |
G |
8: 106,056,281 (GRCm39) |
L1144P |
probably damaging |
Het |
| Frem3 |
C |
T |
8: 81,340,944 (GRCm39) |
T1079I |
probably damaging |
Het |
| Gbp10 |
A |
G |
5: 105,368,980 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,404,918 (GRCm39) |
V4496A |
possibly damaging |
Het |
| Lamb1 |
A |
G |
12: 31,350,261 (GRCm39) |
R729G |
possibly damaging |
Het |
| Lifr |
T |
A |
15: 7,205,147 (GRCm39) |
C461* |
probably null |
Het |
| Lypd6 |
T |
C |
2: 50,078,795 (GRCm39) |
V97A |
probably benign |
Het |
| Map3k5 |
A |
G |
10: 19,993,933 (GRCm39) |
E973G |
possibly damaging |
Het |
| Mep1b |
A |
T |
18: 21,230,524 (GRCm39) |
N692I |
probably benign |
Het |
| Mrpl15 |
A |
G |
1: 4,846,754 (GRCm39) |
V274A |
probably damaging |
Het |
| Naaa |
A |
G |
5: 92,411,507 (GRCm39) |
I264T |
probably damaging |
Het |
| Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or4x11 |
T |
C |
2: 89,868,162 (GRCm39) |
W300R |
possibly damaging |
Het |
| Or5b95 |
T |
C |
19: 12,658,035 (GRCm39) |
S188P |
possibly damaging |
Het |
| Or8b38 |
A |
T |
9: 37,973,300 (GRCm39) |
H228L |
possibly damaging |
Het |
| Or8k3 |
T |
C |
2: 86,058,628 (GRCm39) |
N229S |
probably benign |
Het |
| Phc2 |
C |
T |
4: 128,616,903 (GRCm39) |
T392I |
probably benign |
Het |
| Ptprg |
G |
A |
14: 12,213,702 (GRCm38) |
W248* |
probably null |
Het |
| Pzp |
T |
A |
6: 128,498,087 (GRCm39) |
E243D |
probably benign |
Het |
| Rbm33 |
T |
A |
5: 28,592,846 (GRCm39) |
L542Q |
probably damaging |
Het |
| Recql4 |
G |
A |
15: 76,593,144 (GRCm39) |
T229I |
probably benign |
Het |
| Ssbp3 |
T |
C |
4: 106,894,855 (GRCm39) |
|
probably benign |
Het |
| Tfap2d |
A |
T |
1: 19,218,620 (GRCm39) |
Q373L |
probably damaging |
Het |
| Timmdc1 |
A |
G |
16: 38,338,902 (GRCm39) |
|
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,820,209 (GRCm39) |
|
probably benign |
Het |
| Zfp551 |
A |
G |
7: 12,152,468 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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 |
2013-11-18 |
Incidental Mutation