Incidental Mutation 'R1106:Asic5'
ID |
98467 |
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 |
039179-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1106 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
81889600-81928540 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 81911897 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 122
(F122L)
|
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: F164L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000029641 Gene: ENSMUSG00000028008 AA Change: F164L
Domain | Start | End | E-Value | Type |
Pfam:ASC
|
41 |
466 |
3.5e-94 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107736
AA Change: F122L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103364 Gene: ENSMUSG00000028008 AA Change: F122L
Domain | Start | End | E-Value | Type |
Pfam:ASC
|
1 |
425 |
5.5e-110 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142889
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Caml |
A |
G |
13: 55,772,538 (GRCm39) |
T61A |
probably benign |
Het |
Cfap20 |
A |
T |
8: 96,147,873 (GRCm39) |
I156N |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Dio2 |
A |
G |
12: 90,704,985 (GRCm39) |
L25P |
probably damaging |
Het |
Eps8 |
G |
A |
6: 137,491,322 (GRCm39) |
P352L |
probably damaging |
Het |
Gnai2 |
A |
G |
9: 107,497,385 (GRCm39) |
I3T |
probably damaging |
Het |
Hexim2 |
T |
C |
11: 103,029,319 (GRCm39) |
S124P |
probably damaging |
Het |
Klk1b16 |
C |
T |
7: 43,788,937 (GRCm39) |
R57C |
probably damaging |
Het |
Mier3 |
A |
T |
13: 111,844,763 (GRCm39) |
D205V |
probably damaging |
Het |
Or2y14 |
A |
G |
11: 49,404,519 (GRCm39) |
D18G |
probably damaging |
Het |
Or4c102 |
T |
C |
2: 88,422,355 (GRCm39) |
V69A |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 22,965,748 (GRCm39) |
D192G |
probably damaging |
Het |
Samd3 |
G |
A |
10: 26,147,689 (GRCm39) |
V455M |
possibly damaging |
Het |
Slc9c1 |
C |
A |
16: 45,376,170 (GRCm39) |
Q419K |
possibly damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Tas2r139 |
A |
G |
6: 42,118,479 (GRCm39) |
T204A |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,643,180 (GRCm39) |
E4181K |
possibly damaging |
Het |
Vps37a |
T |
A |
8: 40,965,247 (GRCm39) |
I33N |
probably damaging |
Het |
Zfp335 |
TTGCTGCTGCTGCTGCTGCT |
TTGCTGCTGCTGCTGCT |
2: 164,749,471 (GRCm39) |
|
probably benign |
Het |
Zik1 |
G |
A |
7: 10,224,312 (GRCm39) |
R262C |
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 |
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'- TCTGTGCTGCCAGTCAAAGAGAAG -3'
(R):5'- GTATCTCACATGGATGCCACATCTCC -3'
Sequencing Primer
(F):5'- AGAGGGAAGCTGCTCACTTTG -3'
(R):5'- CTCAATGGATTGGTTTTACTTGAGC -3'
|
Posted On |
2014-01-05 |