Incidental Mutation 'R6359:Asic5'
ID |
514179 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asic5
|
Ensembl Gene |
ENSMUSG00000028008 |
Gene Name |
acid-sensing ion channel family member 5 |
Synonyms |
brain-liver-intestine amiloride-sensitive sodium channel, BLINaC, Accn5 |
MMRRC Submission |
044509-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6359 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
81889600-81928540 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 81911803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 133
(D133V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029641
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029641]
[ENSMUST00000107736]
|
AlphaFold |
Q9R0Y1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029641
AA Change: D133V
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000029641 Gene: ENSMUSG00000028008 AA Change: D133V
Domain | Start | End | E-Value | Type |
Pfam:ASC
|
41 |
466 |
3.5e-94 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107736
AA Change: D91V
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103364 Gene: ENSMUSG00000028008 AA Change: D91V
Domain | Start | End | E-Value | Type |
Pfam:ASC
|
1 |
425 |
5.5e-110 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142889
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
100% (30/30) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp11b |
A |
G |
3: 35,832,210 (GRCm39) |
I22V |
probably benign |
Het |
Ccdc18 |
C |
T |
5: 108,283,391 (GRCm39) |
T34I |
probably damaging |
Het |
Ces2a |
A |
G |
8: 105,462,710 (GRCm39) |
I100V |
probably benign |
Het |
Ddi2 |
T |
A |
4: 141,411,899 (GRCm39) |
T338S |
probably damaging |
Het |
Dync1li1 |
A |
G |
9: 114,542,638 (GRCm39) |
I267V |
probably benign |
Het |
Eif1ad14 |
G |
A |
12: 87,886,275 (GRCm39) |
T118M |
probably benign |
Het |
Fbxo10 |
A |
T |
4: 45,041,796 (GRCm39) |
V637E |
possibly damaging |
Het |
Gak |
T |
C |
5: 108,719,766 (GRCm39) |
E458G |
probably damaging |
Het |
Glp1r |
G |
T |
17: 31,148,946 (GRCm39) |
V287F |
probably damaging |
Het |
Gsdmc2 |
T |
C |
15: 63,696,866 (GRCm39) |
E435G |
probably damaging |
Het |
Hsd11b1 |
T |
A |
1: 192,924,660 (GRCm39) |
|
probably benign |
Het |
Igkv13-84 |
T |
G |
6: 68,916,592 (GRCm39) |
F3V |
probably benign |
Het |
Igsf9b |
C |
A |
9: 27,220,895 (GRCm39) |
A87E |
probably benign |
Het |
Ints1 |
G |
T |
5: 139,741,972 (GRCm39) |
L1796I |
probably benign |
Het |
Ipo8 |
A |
G |
6: 148,678,748 (GRCm39) |
L950P |
probably benign |
Het |
Lama5 |
T |
C |
2: 179,837,775 (GRCm39) |
D931G |
probably benign |
Het |
Lamb1 |
A |
G |
12: 31,332,715 (GRCm39) |
E327G |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,185,608 (GRCm39) |
Y1369C |
probably damaging |
Het |
Mapk3 |
A |
G |
7: 126,359,928 (GRCm39) |
T67A |
probably benign |
Het |
Mrpl4 |
T |
A |
9: 20,919,030 (GRCm39) |
V225E |
probably damaging |
Het |
Ncln |
C |
T |
10: 81,326,118 (GRCm39) |
G278S |
probably damaging |
Het |
Nlrp3 |
G |
A |
11: 59,439,392 (GRCm39) |
R323Q |
probably damaging |
Het |
Nol8 |
A |
G |
13: 49,817,546 (GRCm39) |
D774G |
probably benign |
Het |
Or11i1 |
A |
T |
3: 106,729,731 (GRCm39) |
I48N |
probably damaging |
Het |
Or52p1 |
T |
C |
7: 104,267,510 (GRCm39) |
V208A |
probably damaging |
Het |
Plekha8 |
G |
T |
6: 54,590,104 (GRCm39) |
C23F |
probably damaging |
Het |
Prkag1 |
T |
C |
15: 98,712,433 (GRCm39) |
Y133C |
probably damaging |
Het |
Spata31d1a |
A |
G |
13: 59,850,920 (GRCm39) |
S403P |
probably benign |
Het |
Spata31d1c |
A |
T |
13: 65,183,406 (GRCm39) |
N316I |
possibly damaging |
Het |
Tmem30c |
A |
T |
16: 57,096,513 (GRCm39) |
S203T |
probably benign |
Het |
Ttn |
T |
G |
2: 76,569,300 (GRCm39) |
N18871H |
possibly damaging |
Het |
|
Other mutations in Asic5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00977:Asic5
|
APN |
3 |
81,911,953 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL01155:Asic5
|
APN |
3 |
81,915,895 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01908:Asic5
|
APN |
3 |
81,913,877 (GRCm39) |
nonsense |
probably null |
|
IGL03049:Asic5
|
APN |
3 |
81,904,256 (GRCm39) |
unclassified |
probably benign |
|
IGL03078:Asic5
|
APN |
3 |
81,921,735 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0498:Asic5
|
UTSW |
3 |
81,913,778 (GRCm39) |
splice site |
probably benign |
|
R0517:Asic5
|
UTSW |
3 |
81,916,833 (GRCm39) |
missense |
probably benign |
0.01 |
R0668:Asic5
|
UTSW |
3 |
81,928,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R0960:Asic5
|
UTSW |
3 |
81,913,847 (GRCm39) |
missense |
probably benign |
0.04 |
R0973:Asic5
|
UTSW |
3 |
81,915,755 (GRCm39) |
splice site |
probably benign |
|
R1061:Asic5
|
UTSW |
3 |
81,928,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R1106:Asic5
|
UTSW |
3 |
81,911,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R1703:Asic5
|
UTSW |
3 |
81,907,029 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1864:Asic5
|
UTSW |
3 |
81,919,294 (GRCm39) |
missense |
probably benign |
0.00 |
R1892:Asic5
|
UTSW |
3 |
81,928,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R4629:Asic5
|
UTSW |
3 |
81,913,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R4736:Asic5
|
UTSW |
3 |
81,907,116 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5254:Asic5
|
UTSW |
3 |
81,928,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R5284:Asic5
|
UTSW |
3 |
81,915,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R5573:Asic5
|
UTSW |
3 |
81,911,791 (GRCm39) |
missense |
probably benign |
0.10 |
R6163:Asic5
|
UTSW |
3 |
81,913,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R6553:Asic5
|
UTSW |
3 |
81,916,773 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6623:Asic5
|
UTSW |
3 |
81,915,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R7084:Asic5
|
UTSW |
3 |
81,919,318 (GRCm39) |
missense |
probably benign |
0.00 |
R7168:Asic5
|
UTSW |
3 |
81,919,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R7296:Asic5
|
UTSW |
3 |
81,928,383 (GRCm39) |
missense |
probably benign |
0.03 |
R7304:Asic5
|
UTSW |
3 |
81,916,872 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7885:Asic5
|
UTSW |
3 |
81,913,812 (GRCm39) |
missense |
probably benign |
0.09 |
R8941:Asic5
|
UTSW |
3 |
81,913,915 (GRCm39) |
splice site |
probably benign |
|
R9391:Asic5
|
UTSW |
3 |
81,928,366 (GRCm39) |
missense |
probably benign |
|
R9542:Asic5
|
UTSW |
3 |
81,911,850 (GRCm39) |
missense |
probably benign |
0.32 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGAAGCTGCTCACTTTG -3'
(R):5'- TTTGCCAAAGAACTCACAGTGC -3'
Sequencing Primer
(F):5'- ATCTGAACACAATGCACAGTGG -3'
(R):5'- CAGTGCACCAAAGTGTCGTTATTGAG -3'
|
Posted On |
2018-04-27 |