Incidental Mutation 'IGL00977:Asic5'
| ID |
27159 |
| 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 # |
IGL00977
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
81889600-81928540 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81911953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 183
(V183E)
|
| 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: V183E
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000029641
Gene: ENSMUSG00000028008
AA Change: V183E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASC
|
41 |
466 |
3.5e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107736
AA Change: V141E
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000103364
Gene: ENSMUSG00000028008
AA Change: V141E
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,349,284 (GRCm39) |
F3619L |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,822,837 (GRCm39) |
V164A |
possibly damaging |
Het |
| Bend3 |
A |
G |
10: 43,386,945 (GRCm39) |
Q446R |
possibly damaging |
Het |
| Ccdc80 |
C |
A |
16: 44,916,627 (GRCm39) |
T461K |
probably benign |
Het |
| Cep350 |
T |
A |
1: 155,808,611 (GRCm39) |
E655V |
probably null |
Het |
| Chi3l1 |
T |
C |
1: 134,115,711 (GRCm39) |
F232L |
possibly damaging |
Het |
| Degs1 |
T |
A |
1: 182,106,774 (GRCm39) |
I162F |
probably benign |
Het |
| Dhdds |
A |
T |
4: 133,727,571 (GRCm39) |
|
probably benign |
Het |
| Herc4 |
A |
T |
10: 63,147,346 (GRCm39) |
Y821F |
probably damaging |
Het |
| Hpf1 |
A |
G |
8: 61,358,753 (GRCm39) |
H303R |
probably benign |
Het |
| Kcnk10 |
A |
T |
12: 98,484,792 (GRCm39) |
C115S |
probably damaging |
Het |
| Map3k13 |
T |
C |
16: 21,740,514 (GRCm39) |
S614P |
probably benign |
Het |
| Me2 |
A |
T |
18: 73,924,248 (GRCm39) |
N321K |
probably benign |
Het |
| Med16 |
A |
T |
10: 79,743,459 (GRCm39) |
M1K |
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,410,078 (GRCm39) |
F2651L |
probably damaging |
Het |
| Prrc2b |
C |
T |
2: 32,103,822 (GRCm39) |
T1100I |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,314,645 (GRCm39) |
Q1680L |
probably damaging |
Het |
| Sh3rf2 |
A |
G |
18: 42,244,283 (GRCm39) |
T250A |
probably benign |
Het |
| Sting1 |
C |
T |
18: 35,867,620 (GRCm39) |
E359K |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 44,022,451 (GRCm39) |
F950L |
possibly damaging |
Het |
| Vmn2r129 |
C |
A |
4: 156,686,491 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Asic5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation