Incidental Mutation 'R6553:Asic5'
| ID |
521768 |
| 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 |
044678-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6553 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
81889600-81928540 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81916773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 288
(T288S)
|
| 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: T288S
PolyPhen 2
Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029641
Gene: ENSMUSG00000028008
AA Change: T288S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASC
|
41 |
466 |
3.5e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107736
AA Change: T246S
PolyPhen 2
Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103364
Gene: ENSMUSG00000028008
AA Change: T246S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASC
|
1 |
425 |
5.5e-110 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
G |
T |
5: 121,639,250 (GRCm39) |
D598E |
probably benign |
Het |
| Ascc3 |
A |
G |
10: 50,718,273 (GRCm39) |
K1989E |
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,945,692 (GRCm39) |
N72S |
probably benign |
Het |
| Ciita |
T |
A |
16: 10,329,609 (GRCm39) |
V628E |
probably benign |
Het |
| Cyp2c50 |
A |
G |
19: 40,079,046 (GRCm39) |
T130A |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,908,975 (GRCm39) |
V1196E |
probably damaging |
Het |
| Dis3l2 |
T |
A |
1: 86,673,216 (GRCm39) |
I69N |
probably damaging |
Het |
| Exph5 |
A |
G |
9: 53,213,012 (GRCm39) |
|
probably benign |
Het |
| Fcgbp |
A |
T |
7: 27,813,404 (GRCm39) |
Q2313L |
possibly damaging |
Het |
| Gm2888 |
A |
G |
14: 3,037,722 (GRCm38) |
H238R |
possibly damaging |
Het |
| Gm5622 |
A |
G |
14: 51,895,200 (GRCm39) |
K120E |
probably damaging |
Het |
| Gpr155 |
A |
T |
2: 73,179,989 (GRCm39) |
I157N |
probably damaging |
Het |
| Hltf |
T |
C |
3: 20,126,558 (GRCm39) |
V245A |
probably damaging |
Het |
| Kmt2e |
G |
A |
5: 23,668,024 (GRCm39) |
V28I |
probably damaging |
Het |
| Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
| Nprl3 |
C |
T |
11: 32,184,812 (GRCm39) |
R399Q |
probably benign |
Het |
| Or6c6c |
C |
T |
10: 129,540,932 (GRCm39) |
R62C |
probably benign |
Het |
| Ptgs2 |
T |
C |
1: 149,979,738 (GRCm39) |
V281A |
possibly damaging |
Het |
| Speer4f2 |
A |
G |
5: 17,579,420 (GRCm39) |
E73G |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Trav13n-3 |
A |
G |
14: 53,574,618 (GRCm39) |
T14A |
probably benign |
Het |
| Trav9d-4 |
A |
T |
14: 53,221,198 (GRCm39) |
Q63L |
probably benign |
Het |
| Vmn2r75 |
T |
A |
7: 85,813,453 (GRCm39) |
N450Y |
probably benign |
Het |
| Vmn2r97 |
G |
A |
17: 19,150,566 (GRCm39) |
W471* |
probably null |
Het |
| Zfp27 |
G |
A |
7: 29,595,818 (GRCm39) |
T49I |
possibly damaging |
Het |
| Zpld2 |
A |
G |
4: 133,929,367 (GRCm39) |
S313P |
probably 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 |
|
R6359:Asic5
|
UTSW |
3 |
81,911,803 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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'- AAGGCTGCTATTGATAGTGGC -3'
(R):5'- CCCACTGAGGTTATATGGGAATG -3'
Sequencing Primer
(F):5'- GCCTTCAGGGACTTTCATGATAGAAG -3'
(R):5'- CCTCCTTTTCAAATTAAGCAGTGTGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation