Incidental Mutation 'IGL01718:Asic1'
| ID |
105001 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Asic1
|
| Ensembl Gene |
ENSMUSG00000023017 |
| Gene Name |
acid-sensing ion channel 1 |
| Synonyms |
B530003N02Rik, ASIC1 beta, Accn2, ASIC1b, ASIC, ASIC1a, BNaC2, ASICalpha |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
IGL01718
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
99568249-99599011 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99569883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 68
(Y68C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023758]
|
| AlphaFold |
Q6NXK8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023758
AA Change: Y68C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023758
Gene: ENSMUSG00000023017
AA Change: Y68C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASC
|
21 |
454 |
9.9e-95 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228012
|
| 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 encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mutation of this gene results in absence of H+-gated currents in hippocampal neurons, impaired long term potentiation, reduced excitatory postsynaptic potentials, and defective spatial learning and eye blink conditioning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a3 |
A |
G |
7: 66,049,953 (GRCm39) |
F422L |
possibly damaging |
Het |
| Ap2m1 |
T |
C |
16: 20,360,944 (GRCm39) |
|
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,349,214 (GRCm39) |
D1002G |
possibly damaging |
Het |
| Cyp2c29 |
A |
T |
19: 39,318,704 (GRCm39) |
I434F |
possibly damaging |
Het |
| Diaph3 |
T |
A |
14: 86,893,774 (GRCm39) |
R78S |
unknown |
Het |
| Dnase1l2 |
T |
C |
17: 24,660,690 (GRCm39) |
D188G |
possibly damaging |
Het |
| Exosc9 |
T |
C |
3: 36,608,078 (GRCm39) |
|
probably benign |
Het |
| Fgf23 |
G |
A |
6: 127,057,436 (GRCm39) |
V251I |
probably benign |
Het |
| Fndc3c1 |
T |
C |
X: 105,489,534 (GRCm39) |
T296A |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,938,617 (GRCm39) |
E633G |
probably damaging |
Het |
| Gpr155 |
T |
C |
2: 73,212,576 (GRCm39) |
M16V |
probably benign |
Het |
| Jakmip3 |
T |
G |
7: 138,591,121 (GRCm39) |
S2A |
possibly damaging |
Het |
| Lrba |
T |
A |
3: 86,258,555 (GRCm39) |
N1347K |
probably damaging |
Het |
| Mars1 |
T |
C |
10: 127,141,707 (GRCm39) |
R266G |
possibly damaging |
Het |
| Mplkipl1 |
A |
G |
19: 61,164,199 (GRCm39) |
S79P |
probably damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,675 (GRCm39) |
|
probably null |
Het |
| Or7g20 |
T |
A |
9: 18,946,584 (GRCm39) |
L55* |
probably null |
Het |
| Pdzk1ip1 |
T |
A |
4: 114,950,111 (GRCm39) |
|
probably benign |
Het |
| Ppid |
G |
T |
3: 79,500,986 (GRCm39) |
C52F |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,152,512 (GRCm39) |
I2318T |
possibly damaging |
Het |
| Rhpn2 |
G |
A |
7: 35,070,179 (GRCm39) |
D146N |
probably benign |
Het |
| Tspoap1 |
G |
T |
11: 87,671,081 (GRCm39) |
R1670L |
possibly damaging |
Het |
| Ttc22 |
G |
A |
4: 106,495,773 (GRCm39) |
V376M |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
| Zfp609 |
G |
A |
9: 65,609,682 (GRCm39) |
Q1094* |
probably null |
Het |
| Zfp831 |
C |
T |
2: 174,485,631 (GRCm39) |
T102I |
possibly damaging |
Het |
| Zglp1 |
C |
T |
9: 20,974,675 (GRCm39) |
C171Y |
probably benign |
Het |
|
| Other mutations in Asic1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01413:Asic1
|
APN |
15 |
99,569,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01418:Asic1
|
APN |
15 |
99,569,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01941:Asic1
|
APN |
15 |
99,596,982 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01993:Asic1
|
APN |
15 |
99,595,353 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02097:Asic1
|
APN |
15 |
99,592,567 (GRCm39) |
splice site |
probably benign |
|
|
IGL03028:Asic1
|
APN |
15 |
99,570,038 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03082:Asic1
|
APN |
15 |
99,594,428 (GRCm39) |
missense |
probably benign |
|
|
IGL03183:Asic1
|
APN |
15 |
99,569,898 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL03231:Asic1
|
APN |
15 |
99,596,983 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0111:Asic1
|
UTSW |
15 |
99,594,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Asic1
|
UTSW |
15 |
99,596,498 (GRCm39) |
unclassified |
probably benign |
|
|
R0316:Asic1
|
UTSW |
15 |
99,569,819 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0518:Asic1
|
UTSW |
15 |
99,596,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0520:Asic1
|
UTSW |
15 |
99,593,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0521:Asic1
|
UTSW |
15 |
99,596,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Asic1
|
UTSW |
15 |
99,596,780 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1034:Asic1
|
UTSW |
15 |
99,595,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1666:Asic1
|
UTSW |
15 |
99,597,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Asic1
|
UTSW |
15 |
99,594,535 (GRCm39) |
missense |
probably null |
0.99 |
|
R1993:Asic1
|
UTSW |
15 |
99,569,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2130:Asic1
|
UTSW |
15 |
99,569,756 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2180:Asic1
|
UTSW |
15 |
99,569,846 (GRCm39) |
missense |
probably benign |
|
|
R2895:Asic1
|
UTSW |
15 |
99,594,483 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3793:Asic1
|
UTSW |
15 |
99,569,906 (GRCm39) |
nonsense |
probably null |
|
|
R3848:Asic1
|
UTSW |
15 |
99,570,814 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5115:Asic1
|
UTSW |
15 |
99,569,933 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5186:Asic1
|
UTSW |
15 |
99,596,684 (GRCm39) |
unclassified |
probably benign |
|
|
R5187:Asic1
|
UTSW |
15 |
99,596,684 (GRCm39) |
unclassified |
probably benign |
|
|
R5409:Asic1
|
UTSW |
15 |
99,596,684 (GRCm39) |
unclassified |
probably benign |
|
|
R6011:Asic1
|
UTSW |
15 |
99,596,960 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6383:Asic1
|
UTSW |
15 |
99,596,761 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7133:Asic1
|
UTSW |
15 |
99,569,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7255:Asic1
|
UTSW |
15 |
99,595,338 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7587:Asic1
|
UTSW |
15 |
99,593,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8012:Asic1
|
UTSW |
15 |
99,594,532 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8030:Asic1
|
UTSW |
15 |
99,592,722 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8089:Asic1
|
UTSW |
15 |
99,595,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8919:Asic1
|
UTSW |
15 |
99,569,826 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9417:Asic1
|
UTSW |
15 |
99,590,405 (GRCm39) |
missense |
probably benign |
|
|
R9534:Asic1
|
UTSW |
15 |
99,594,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9646:Asic1
|
UTSW |
15 |
99,593,414 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9717:Asic1
|
UTSW |
15 |
99,590,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation