Incidental Mutation 'IGL01908:Asic5'
| ID |
179729 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01908
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
81889600-81928540 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 81913877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 184
(G184*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103364
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029641]
[ENSMUST00000107736]
|
| AlphaFold |
Q9R0Y1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029641
AA Change: G226*
|
| SMART Domains |
Protein: ENSMUSP00000029641
Gene: ENSMUSG00000028008
AA Change: G226*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASC
|
41 |
466 |
3.5e-94 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107736
AA Change: G184*
|
| SMART Domains |
Protein: ENSMUSP00000103364
Gene: ENSMUSG00000028008
AA Change: G184*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASC
|
1 |
425 |
5.5e-110 |
PFAM |
|
| 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 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1 |
G |
T |
6: 48,883,690 (GRCm39) |
R522L |
probably damaging |
Het |
| Bcr |
T |
A |
10: 74,897,705 (GRCm39) |
I283N |
possibly damaging |
Het |
| Bscl2 |
A |
G |
19: 8,822,640 (GRCm39) |
T134A |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,761,270 (GRCm39) |
|
probably benign |
Het |
| Clnk |
T |
A |
5: 38,870,485 (GRCm39) |
N358Y |
probably damaging |
Het |
| Crnkl1 |
A |
T |
2: 145,770,075 (GRCm39) |
V256E |
probably benign |
Het |
| Ctsm |
A |
T |
13: 61,685,601 (GRCm39) |
S270R |
probably benign |
Het |
| Dhx57 |
G |
T |
17: 80,558,872 (GRCm39) |
P1029H |
probably damaging |
Het |
| Dock3 |
A |
G |
9: 106,783,861 (GRCm39) |
M277T |
possibly damaging |
Het |
| Fbxo11 |
T |
C |
17: 88,299,728 (GRCm39) |
K874R |
probably benign |
Het |
| Fyco1 |
A |
T |
9: 123,658,295 (GRCm39) |
L627Q |
probably damaging |
Het |
| Ghr |
A |
T |
15: 3,349,929 (GRCm39) |
C416* |
probably null |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Kif13b |
T |
C |
14: 64,995,007 (GRCm39) |
C920R |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,592,816 (GRCm39) |
T3768A |
probably benign |
Het |
| Luzp2 |
T |
G |
7: 54,821,944 (GRCm39) |
S154A |
probably damaging |
Het |
| Or52p1 |
A |
T |
7: 104,266,906 (GRCm39) |
T7S |
probably damaging |
Het |
| Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
T |
A |
12: 11,508,592 (GRCm39) |
V838D |
probably damaging |
Het |
| Sbf1 |
A |
T |
15: 89,186,929 (GRCm39) |
D816E |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stim1 |
T |
C |
7: 102,084,857 (GRCm39) |
V603A |
probably benign |
Het |
| Tinagl1 |
G |
T |
4: 130,061,223 (GRCm39) |
T309K |
probably damaging |
Het |
| Trappc11 |
G |
A |
8: 47,957,029 (GRCm39) |
A799V |
probably damaging |
Het |
| Vmn1r113 |
T |
C |
7: 20,521,943 (GRCm39) |
L245P |
probably damaging |
Het |
| Vmn1r40 |
T |
G |
6: 89,691,291 (GRCm39) |
V36G |
probably damaging |
Het |
| Vmn1r40 |
C |
T |
6: 89,691,285 (GRCm39) |
A34V |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
R6359:Asic5
|
UTSW |
3 |
81,911,803 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation