Incidental Mutation 'IGL03049:Asic5'
ID |
409012 |
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 # |
IGL03049
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
81889600-81928540 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 81904256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103364
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029641]
[ENSMUST00000107736]
|
AlphaFold |
Q9R0Y1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029641
|
SMART Domains |
Protein: ENSMUSP00000029641 Gene: ENSMUSG00000028008
Domain | Start | End | E-Value | Type |
Pfam:ASC
|
41 |
466 |
3.5e-94 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107736
|
SMART Domains |
Protein: ENSMUSP00000103364 Gene: ENSMUSG00000028008
Domain | Start | End | E-Value | Type |
Pfam:ASC
|
1 |
425 |
5.5e-110 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142889
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef19 |
A |
G |
4: 140,981,627 (GRCm39) |
H645R |
probably damaging |
Het |
Atp6v0a2 |
T |
C |
5: 124,789,845 (GRCm39) |
F424L |
probably damaging |
Het |
Clca4a |
A |
T |
3: 144,676,516 (GRCm39) |
|
probably benign |
Het |
Eif3k |
A |
G |
7: 28,670,858 (GRCm39) |
S178P |
possibly damaging |
Het |
Elp2 |
C |
T |
18: 24,764,516 (GRCm39) |
T621I |
probably benign |
Het |
Exoc3l4 |
T |
C |
12: 111,389,835 (GRCm39) |
S137P |
probably damaging |
Het |
Gm14393 |
C |
A |
2: 174,903,581 (GRCm39) |
G109C |
probably damaging |
Het |
Gp2 |
A |
G |
7: 119,049,517 (GRCm39) |
V340A |
possibly damaging |
Het |
Hic2 |
A |
G |
16: 17,075,800 (GRCm39) |
S210G |
probably benign |
Het |
Lcn3 |
T |
A |
2: 25,655,586 (GRCm39) |
M1K |
probably null |
Het |
Ldlr |
A |
G |
9: 21,657,115 (GRCm39) |
E692G |
probably benign |
Het |
Ly75 |
T |
C |
2: 60,182,414 (GRCm39) |
N587S |
probably damaging |
Het |
Msh2 |
T |
C |
17: 88,015,937 (GRCm39) |
F523S |
probably damaging |
Het |
Mtmr4 |
T |
A |
11: 87,505,060 (GRCm39) |
I1185N |
probably damaging |
Het |
Ncoa6 |
T |
A |
2: 155,260,934 (GRCm39) |
K519N |
probably damaging |
Het |
Or4c103 |
C |
T |
2: 88,513,834 (GRCm39) |
V81M |
possibly damaging |
Het |
Or52z14 |
A |
T |
7: 103,253,298 (GRCm39) |
I146F |
probably damaging |
Het |
Or7c70 |
T |
A |
10: 78,683,356 (GRCm39) |
H131L |
possibly damaging |
Het |
Ppp1r13b |
T |
C |
12: 111,799,663 (GRCm39) |
T705A |
probably benign |
Het |
Ripor1 |
A |
G |
8: 106,342,079 (GRCm39) |
D119G |
probably damaging |
Het |
Scn10a |
A |
G |
9: 119,495,056 (GRCm39) |
V395A |
probably damaging |
Het |
Slc18b1 |
T |
C |
10: 23,698,844 (GRCm39) |
V338A |
probably benign |
Het |
Usp10 |
A |
G |
8: 120,683,366 (GRCm39) |
T746A |
probably benign |
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 |
|
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 |
2016-08-02 |