Incidental Mutation 'IGL01399:Asic4'
ID |
79585 |
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 # |
IGL01399
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
75427080-75450987 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 75445790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 206
(N206K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045598
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037708]
[ENSMUST00000113577]
|
AlphaFold |
Q7TNS7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037708
AA Change: N206K
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000045598 Gene: ENSMUSG00000033007 AA Change: N206K
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 |
possibly damaging
Transcript: ENSMUST00000113577
AA Change: N206K
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000109207 Gene: ENSMUSG00000033007 AA Change: N206K
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 |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
Bsn |
A |
G |
9: 107,984,386 (GRCm39) |
Y3223H |
unknown |
Het |
Btaf1 |
C |
T |
19: 36,977,570 (GRCm39) |
R1463* |
probably null |
Het |
Ccdc146 |
A |
G |
5: 21,499,611 (GRCm39) |
I857T |
possibly damaging |
Het |
Ccnf |
G |
A |
17: 24,443,986 (GRCm39) |
S594L |
probably damaging |
Het |
Chd5 |
T |
C |
4: 152,441,144 (GRCm39) |
W195R |
probably damaging |
Het |
Cntn1 |
A |
G |
15: 92,203,025 (GRCm39) |
Y769C |
probably damaging |
Het |
Cwc22 |
T |
C |
2: 77,747,408 (GRCm39) |
E435G |
probably benign |
Het |
Dct |
A |
G |
14: 118,273,890 (GRCm39) |
F339S |
probably damaging |
Het |
Ddx54 |
G |
T |
5: 120,761,968 (GRCm39) |
E554* |
probably null |
Het |
Dock3 |
G |
T |
9: 106,870,670 (GRCm39) |
S581R |
probably benign |
Het |
Dst |
A |
G |
1: 34,156,598 (GRCm39) |
H176R |
probably benign |
Het |
Emc8 |
A |
G |
8: 121,385,745 (GRCm39) |
M123T |
probably damaging |
Het |
Evc |
T |
A |
5: 37,490,357 (GRCm39) |
D55V |
probably damaging |
Het |
Gm5424 |
A |
G |
10: 61,907,272 (GRCm39) |
|
noncoding transcript |
Het |
Gpr149 |
A |
T |
3: 62,511,852 (GRCm39) |
L49Q |
probably damaging |
Het |
Hcfc1 |
C |
T |
X: 72,993,515 (GRCm39) |
V1217I |
possibly damaging |
Het |
Hoxa4 |
G |
T |
6: 52,167,393 (GRCm39) |
Q263K |
probably damaging |
Het |
Ift172 |
T |
C |
5: 31,423,592 (GRCm39) |
E790G |
probably benign |
Het |
Ipp |
A |
G |
4: 116,372,384 (GRCm39) |
N138D |
probably damaging |
Het |
Isg20 |
A |
T |
7: 78,569,836 (GRCm39) |
T158S |
possibly damaging |
Het |
Klf17 |
A |
G |
4: 117,616,356 (GRCm39) |
F325S |
probably damaging |
Het |
Lilrb4a |
T |
C |
10: 51,370,161 (GRCm39) |
L233P |
probably benign |
Het |
Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
Myh9 |
A |
T |
15: 77,651,470 (GRCm39) |
L1544Q |
probably damaging |
Het |
Nexmif |
T |
A |
X: 103,130,786 (GRCm39) |
D377V |
probably damaging |
Het |
Nobox |
T |
C |
6: 43,280,972 (GRCm39) |
T501A |
probably benign |
Het |
Noc3l |
T |
C |
19: 38,804,099 (GRCm39) |
D93G |
possibly damaging |
Het |
Nrcam |
G |
T |
12: 44,622,667 (GRCm39) |
A938S |
probably benign |
Het |
Nup205 |
T |
C |
6: 35,196,624 (GRCm39) |
I1120T |
possibly damaging |
Het |
Or5b96 |
A |
T |
19: 12,867,803 (GRCm39) |
M46K |
probably benign |
Het |
Or5h18 |
C |
T |
16: 58,847,629 (GRCm39) |
V214I |
probably benign |
Het |
Ptpn3 |
T |
C |
4: 57,225,775 (GRCm39) |
D480G |
probably benign |
Het |
Selenof |
C |
T |
3: 144,302,669 (GRCm39) |
T148I |
probably damaging |
Het |
Sgce |
C |
A |
6: 4,746,997 (GRCm39) |
G31V |
probably damaging |
Het |
Slc35e1 |
C |
A |
8: 73,238,534 (GRCm39) |
A325S |
probably damaging |
Het |
Slc4a4 |
A |
G |
5: 89,376,794 (GRCm39) |
D1016G |
probably damaging |
Het |
Synj2 |
T |
G |
17: 6,060,046 (GRCm39) |
C149W |
probably damaging |
Het |
Tecpr1 |
A |
G |
5: 144,145,411 (GRCm39) |
|
probably null |
Het |
Utp20 |
A |
G |
10: 88,594,164 (GRCm39) |
|
probably null |
Het |
Vmn2r63 |
T |
A |
7: 42,553,543 (GRCm39) |
K571M |
probably damaging |
Het |
Wdr53 |
A |
G |
16: 32,070,718 (GRCm39) |
D21G |
possibly damaging |
Het |
Zbtb3 |
T |
C |
19: 8,780,819 (GRCm39) |
L144S |
probably damaging |
Het |
Zfp185 |
T |
A |
X: 72,043,654 (GRCm39) |
S154T |
probably damaging |
Het |
|
Other mutations in Asic4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-11-05 |