Incidental Mutation 'R0668:Asic5'
ID |
62087 |
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 |
038853-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0668 (G1)
|
Quality Score |
174 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
81889600-81928540 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 81928308 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 424
(Y424N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103364
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029641]
[ENSMUST00000107736]
|
AlphaFold |
Q9R0Y1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029641
AA Change: Y466N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029641 Gene: ENSMUSG00000028008 AA Change: Y466N
Domain | Start | End | E-Value | Type |
Pfam:ASC
|
41 |
466 |
3.5e-94 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107736
AA Change: Y424N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103364 Gene: ENSMUSG00000028008 AA Change: Y424N
Domain | Start | End | E-Value | Type |
Pfam:ASC
|
1 |
425 |
5.5e-110 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 91.4%
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
T |
1: 71,302,773 (GRCm39) |
Q2149K |
probably damaging |
Het |
Aifm1 |
T |
C |
X: 47,583,668 (GRCm39) |
Q210R |
probably benign |
Het |
Arhgef1 |
A |
G |
7: 24,607,345 (GRCm39) |
N31D |
possibly damaging |
Het |
Bltp3a |
A |
T |
17: 28,114,913 (GRCm39) |
I1408F |
probably benign |
Het |
Cfb |
G |
T |
17: 35,076,079 (GRCm39) |
Q1176K |
probably benign |
Het |
Chdh |
A |
G |
14: 29,757,837 (GRCm39) |
H447R |
probably damaging |
Het |
Cpd |
A |
C |
11: 76,675,224 (GRCm39) |
V1299G |
probably damaging |
Het |
Dnase1l3 |
A |
G |
14: 7,968,086 (GRCm38) |
|
probably null |
Het |
Dnhd1 |
A |
G |
7: 105,344,958 (GRCm39) |
T2101A |
probably benign |
Het |
Efcab3 |
A |
T |
11: 104,611,318 (GRCm39) |
I387F |
probably benign |
Het |
Fchsd2 |
A |
G |
7: 100,846,127 (GRCm39) |
K188E |
possibly damaging |
Het |
Gm10549 |
A |
G |
18: 33,603,903 (GRCm39) |
T129A |
unknown |
Het |
Jph1 |
T |
A |
1: 17,161,895 (GRCm39) |
T256S |
probably damaging |
Het |
Kcnma1 |
A |
G |
14: 23,417,563 (GRCm39) |
Y768H |
probably damaging |
Het |
Lcmt1 |
G |
A |
7: 123,002,094 (GRCm39) |
D120N |
probably damaging |
Het |
Ly6g6d |
G |
A |
17: 35,290,715 (GRCm39) |
H72Y |
probably damaging |
Het |
Myom3 |
A |
G |
4: 135,492,237 (GRCm39) |
D127G |
possibly damaging |
Het |
Or10c1 |
T |
A |
17: 37,522,535 (GRCm39) |
I70F |
probably damaging |
Het |
Pira13 |
G |
A |
7: 3,825,699 (GRCm39) |
T390I |
probably damaging |
Het |
Sart1 |
T |
C |
19: 5,434,284 (GRCm39) |
Y249C |
probably damaging |
Het |
Scin |
A |
G |
12: 40,130,948 (GRCm39) |
Y322H |
probably damaging |
Het |
Slc44a3 |
T |
C |
3: 121,303,852 (GRCm39) |
T295A |
probably damaging |
Het |
Slc4a5 |
T |
A |
6: 83,248,054 (GRCm39) |
L535Q |
probably damaging |
Het |
Them5 |
A |
T |
3: 94,251,720 (GRCm39) |
K110N |
probably benign |
Het |
Vmn1r32 |
T |
A |
6: 66,530,644 (GRCm39) |
Q44L |
possibly damaging |
Het |
Vmn2r93 |
T |
A |
17: 18,518,667 (GRCm39) |
M42K |
probably benign |
Het |
Zfp143 |
A |
T |
7: 109,660,481 (GRCm39) |
|
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAAAACAGCATAATCCATGTAAGGCCA -3'
(R):5'- TCCAAACTGTGACATAAAGTCTCATAACAGTG -3'
Sequencing Primer
(F):5'- GCATAATCCATGTAAGGCCATTTGG -3'
(R):5'- AAGTCTCATAACAGTGAATAAGCG -3'
|
Posted On |
2013-07-30 |