Incidental Mutation 'R1034:Asic1'
| ID |
95470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asic1
|
| Ensembl Gene |
ENSMUSG00000023017 |
| Gene Name |
acid-sensing ion channel 1 |
| Synonyms |
B530003N02Rik, ASIC1 beta, Accn2, ASIC1b, ASIC, ASIC1a, BNaC2, ASICalpha |
| MMRRC Submission |
039133-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R1034 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
99568249-99599011 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 99595939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 437
(L437Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023758]
[ENSMUST00000023759]
[ENSMUST00000163472]
[ENSMUST00000228185]
[ENSMUST00000229845]
[ENSMUST00000229236]
[ENSMUST00000230530]
[ENSMUST00000228984]
|
| AlphaFold |
Q6NXK8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023758
AA Change: L404Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023758
Gene: ENSMUSG00000023017
AA Change: L404Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASC
|
21 |
454 |
9.9e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023759
|
| SMART Domains |
Protein: ENSMUSP00000023759
Gene: ENSMUSG00000023018
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
117 |
N/A |
INTRINSIC |
|
Blast:KISc
|
124 |
271 |
2e-43 |
BLAST |
|
SWIB
|
291 |
370 |
1.97e-35 |
SMART |
|
Blast:MYSc
|
452 |
498 |
2e-17 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163472
|
| SMART Domains |
Protein: ENSMUSP00000128823
Gene: ENSMUSG00000091604
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
93 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227670
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228012
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228185
AA Change: L437Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229845
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229686
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229236
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228610
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230530
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228984
|
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.3%
- 10x: 92.9%
- 20x: 82.2%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Abca14 |
T |
C |
7: 119,815,370 (GRCm39) |
F206S |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,267,386 (GRCm39) |
V622A |
probably benign |
Het |
| Atp1b1 |
C |
T |
1: 164,281,057 (GRCm39) |
|
probably null |
Het |
| B3gnt5 |
A |
G |
16: 19,588,234 (GRCm39) |
Y151C |
probably damaging |
Het |
| Cbx4 |
A |
G |
11: 118,972,533 (GRCm39) |
S281P |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,302,617 (GRCm39) |
V1625I |
probably damaging |
Het |
| Eftud2 |
A |
C |
11: 102,740,010 (GRCm39) |
D461E |
probably benign |
Het |
| Epgn |
A |
G |
5: 91,180,080 (GRCm39) |
Y74C |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Fgf14 |
C |
T |
14: 124,369,946 (GRCm39) |
V113I |
probably damaging |
Het |
| Ggcx |
G |
A |
6: 72,391,814 (GRCm39) |
R68H |
probably damaging |
Het |
| Gm1110 |
A |
G |
9: 26,832,646 (GRCm39) |
S16P |
probably damaging |
Het |
| Gm6729 |
T |
C |
10: 86,375,890 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr108 |
A |
G |
17: 57,542,995 (GRCm39) |
F522S |
probably damaging |
Het |
| Gpr156 |
T |
C |
16: 37,825,088 (GRCm39) |
V435A |
probably benign |
Het |
| Khdrbs2 |
T |
C |
1: 32,506,872 (GRCm39) |
L172P |
probably damaging |
Het |
| Kmo |
C |
T |
1: 175,479,184 (GRCm39) |
P240L |
possibly damaging |
Het |
| Ltn1 |
A |
T |
16: 87,194,025 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
T |
A |
1: 60,329,165 (GRCm39) |
Y2194* |
probably null |
Het |
| Or6c8 |
T |
A |
10: 128,915,830 (GRCm39) |
M1L |
probably benign |
Het |
| Or7d11 |
A |
T |
9: 19,966,661 (GRCm39) |
S33T |
probably benign |
Het |
| Rab6b |
T |
C |
9: 103,044,323 (GRCm39) |
S172P |
probably benign |
Het |
| Ror1 |
T |
A |
4: 100,190,817 (GRCm39) |
L58* |
probably null |
Het |
| Sec23b |
A |
G |
2: 144,432,258 (GRCm39) |
D756G |
possibly damaging |
Het |
| Slc24a2 |
T |
A |
4: 86,950,512 (GRCm39) |
K428N |
probably damaging |
Het |
| Spen |
C |
A |
4: 141,203,063 (GRCm39) |
V1855L |
probably benign |
Het |
| Srgap1 |
G |
A |
10: 121,621,350 (GRCm39) |
P1071S |
possibly damaging |
Het |
| Tns1 |
A |
G |
1: 73,981,128 (GRCm39) |
C1079R |
probably damaging |
Het |
| Traf3ip1 |
G |
T |
1: 91,446,041 (GRCm39) |
|
probably null |
Het |
| Trmt2a |
T |
C |
16: 18,067,573 (GRCm39) |
F82S |
probably damaging |
Het |
| Xrn1 |
A |
G |
9: 95,921,790 (GRCm39) |
D1401G |
probably damaging |
Het |
| Zfp352 |
T |
A |
4: 90,112,393 (GRCm39) |
S178T |
possibly damaging |
Het |
| Zfp758 |
G |
T |
17: 22,594,740 (GRCm39) |
E409* |
probably null |
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 |
|
IGL01718:Asic1
|
APN |
15 |
99,569,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCCATCGCTGTAACTGGGATCG -3'
(R):5'- TCCACTTCAAGCCATACCAGAGGG -3'
Sequencing Primer
(F):5'- ccagcgtgcaaagtgtc -3'
(R):5'- GCCATACCAGAGGGCTCAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation