Incidental Mutation 'R3790:Asic4'
ID |
272465 |
Institutional Source |
Beutler Lab
|
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 # |
R3790 (G1)
|
Quality Score |
215 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
75427080-75450987 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to A
at 75446485 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117253
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037708]
[ENSMUST00000079205]
[ENSMUST00000094818]
[ENSMUST00000113577]
[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: 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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
98% (47/48) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat3 |
G |
A |
17: 13,147,460 (GRCm39) |
Q186* |
probably null |
Het |
Alk |
A |
G |
17: 72,910,427 (GRCm39) |
L93P |
possibly damaging |
Het |
Ankrd24 |
C |
T |
10: 81,478,513 (GRCm39) |
|
probably benign |
Het |
Anks6 |
A |
T |
4: 47,049,212 (GRCm39) |
V231E |
probably damaging |
Het |
Ap5z1 |
C |
T |
5: 142,456,168 (GRCm39) |
S329L |
probably benign |
Het |
Cemip2 |
T |
G |
19: 21,784,816 (GRCm39) |
I433S |
probably damaging |
Het |
Cers4 |
C |
A |
8: 4,568,285 (GRCm39) |
Q113K |
possibly damaging |
Het |
Ces3b |
A |
T |
8: 105,813,520 (GRCm39) |
I264F |
possibly damaging |
Het |
Cops3 |
T |
C |
11: 59,718,797 (GRCm39) |
M166V |
probably benign |
Het |
Corin |
T |
C |
5: 72,592,641 (GRCm39) |
Q184R |
probably benign |
Het |
Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
Drosha |
T |
A |
15: 12,912,623 (GRCm39) |
Y1080* |
probably null |
Het |
Gm53 |
T |
C |
11: 96,142,477 (GRCm39) |
|
noncoding transcript |
Het |
Hmcn1 |
A |
G |
1: 150,498,745 (GRCm39) |
S4045P |
probably benign |
Het |
Kif22 |
A |
G |
7: 126,628,668 (GRCm39) |
L480P |
probably damaging |
Het |
Lepr |
A |
T |
4: 101,648,111 (GRCm39) |
|
probably benign |
Het |
Lnpk |
A |
T |
2: 74,352,607 (GRCm39) |
S358R |
probably benign |
Het |
Lnx1 |
A |
G |
5: 74,789,027 (GRCm39) |
|
probably benign |
Het |
Lrsam1 |
T |
C |
2: 32,848,171 (GRCm39) |
E43G |
probably null |
Het |
Mug1 |
G |
A |
6: 121,861,587 (GRCm39) |
V1350I |
probably benign |
Het |
Nbea |
T |
A |
3: 55,912,450 (GRCm39) |
E1112D |
probably benign |
Het |
Nepn |
T |
A |
10: 52,276,626 (GRCm39) |
L60I |
probably damaging |
Het |
Oas1e |
T |
C |
5: 120,933,475 (GRCm39) |
E30G |
probably damaging |
Het |
Or4c122 |
A |
G |
2: 89,079,337 (GRCm39) |
F234L |
probably benign |
Het |
Or4k5 |
A |
C |
14: 50,386,026 (GRCm39) |
F102V |
possibly damaging |
Het |
Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
Prmt8 |
A |
T |
6: 127,688,110 (GRCm39) |
I236N |
probably damaging |
Het |
Psg23 |
C |
A |
7: 18,346,126 (GRCm39) |
V190L |
probably benign |
Het |
Psg29 |
A |
G |
7: 16,938,950 (GRCm39) |
K75E |
possibly damaging |
Het |
Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
Rgs4 |
A |
G |
1: 169,571,991 (GRCm39) |
S103P |
probably damaging |
Het |
Sis |
T |
C |
3: 72,828,747 (GRCm39) |
Y1144C |
probably damaging |
Het |
Slc16a14 |
T |
C |
1: 84,907,001 (GRCm39) |
|
probably benign |
Het |
Snrnp35 |
T |
A |
5: 124,628,248 (GRCm39) |
D20E |
probably damaging |
Het |
Syce1l |
C |
A |
8: 114,369,897 (GRCm39) |
A10E |
possibly damaging |
Het |
Tdp1 |
A |
G |
12: 99,858,011 (GRCm39) |
|
probably benign |
Het |
Tmem212 |
T |
C |
3: 27,940,594 (GRCm39) |
|
probably null |
Het |
Tomm20l |
C |
T |
12: 71,158,516 (GRCm39) |
A58V |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,568,471 (GRCm39) |
C27474F |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,804,552 (GRCm39) |
V240A |
probably benign |
Het |
Vars1 |
A |
G |
17: 35,218,310 (GRCm39) |
V48A |
probably benign |
Het |
Vmn2r1 |
T |
C |
3: 63,994,185 (GRCm39) |
|
probably null |
Het |
Washc2 |
A |
G |
6: 116,224,933 (GRCm39) |
|
probably benign |
Het |
Zfp943 |
A |
G |
17: 22,211,403 (GRCm39) |
D163G |
possibly damaging |
Het |
Zmym5 |
T |
C |
14: 57,031,230 (GRCm39) |
Y626C |
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 |
|
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 |
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'- AGCTAACTTATCTGCCCCAGC -3'
(R):5'- TACAGTCTTCGGGTCATGCAC -3'
Sequencing Primer
(F):5'- AACTTATCTGCCCCAGCCTTGG -3'
(R):5'- TATATTAGCATGCACGCAAGC -3'
|
Posted On |
2015-03-25 |