Incidental Mutation 'R5573:Asic5'
| ID |
435768 |
| 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 |
043128-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5573 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
81889600-81928540 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81911791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 129
(F129Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029641]
[ENSMUST00000107736]
|
| AlphaFold |
Q9R0Y1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029641
AA Change: F129Y
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000029641
Gene: ENSMUSG00000028008
AA Change: F129Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASC
|
41 |
466 |
3.5e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107736
AA Change: F87Y
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000103364
Gene: ENSMUSG00000028008
AA Change: F87Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASC
|
1 |
425 |
5.5e-110 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142889
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
A |
T |
13: 98,065,999 (GRCm39) |
V1618D |
probably benign |
Het |
| Cachd1 |
A |
C |
4: 100,831,276 (GRCm39) |
K689N |
probably damaging |
Het |
| Cbfa2t2 |
A |
G |
2: 154,278,782 (GRCm39) |
|
probably benign |
Het |
| Cdh26 |
T |
C |
2: 178,108,482 (GRCm39) |
V360A |
probably damaging |
Het |
| Col9a3 |
C |
T |
2: 180,261,525 (GRCm39) |
A605V |
probably benign |
Het |
| Csn3 |
A |
G |
5: 88,077,910 (GRCm39) |
T139A |
probably benign |
Het |
| Ddx27 |
G |
T |
2: 166,859,806 (GRCm39) |
K79N |
possibly damaging |
Het |
| Dhx29 |
G |
A |
13: 113,069,749 (GRCm39) |
D211N |
probably benign |
Het |
| Dlg2 |
A |
G |
7: 91,646,532 (GRCm39) |
|
probably null |
Het |
| Dse |
C |
A |
10: 34,028,678 (GRCm39) |
R804L |
probably benign |
Het |
| Fgb |
T |
C |
3: 82,956,984 (GRCm39) |
|
probably null |
Het |
| Gm11011 |
A |
T |
2: 169,429,392 (GRCm39) |
I31K |
unknown |
Het |
| Hira |
A |
G |
16: 18,735,349 (GRCm39) |
T272A |
probably damaging |
Het |
| Lcmt1 |
T |
A |
7: 123,000,686 (GRCm39) |
H117Q |
probably benign |
Het |
| Mettl23 |
A |
G |
11: 116,734,437 (GRCm39) |
|
probably benign |
Het |
| Mtmr2 |
T |
C |
9: 13,704,463 (GRCm39) |
Y197H |
probably benign |
Het |
| Myo9a |
T |
G |
9: 59,778,284 (GRCm39) |
S1347A |
probably benign |
Het |
| Myrfl |
A |
G |
10: 116,658,661 (GRCm39) |
V432A |
probably damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,925,531 (GRCm39) |
H6347Q |
possibly damaging |
Het |
| Or52r1b |
A |
T |
7: 102,691,547 (GRCm39) |
Y282F |
probably damaging |
Het |
| Or8b53 |
T |
A |
9: 38,667,000 (GRCm39) |
N5K |
probably damaging |
Het |
| Peg10 |
A |
G |
6: 4,755,913 (GRCm39) |
|
probably benign |
Het |
| Pfkfb3 |
A |
G |
2: 11,506,483 (GRCm39) |
V10A |
probably benign |
Het |
| Phf12 |
A |
G |
11: 77,915,871 (GRCm39) |
D175G |
probably damaging |
Het |
| Plekhg6 |
T |
G |
6: 125,352,755 (GRCm39) |
I131L |
possibly damaging |
Het |
| Ptbp3 |
A |
G |
4: 59,485,626 (GRCm39) |
V95A |
probably damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,855,664 (GRCm39) |
T604A |
probably benign |
Het |
| Rbbp8nl |
G |
A |
2: 179,921,586 (GRCm39) |
P266L |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,715,148 (GRCm39) |
S4659G |
unknown |
Het |
| Serpinb9d |
A |
G |
13: 33,380,423 (GRCm39) |
|
probably null |
Het |
| Slc22a28 |
A |
C |
19: 8,048,462 (GRCm39) |
I395S |
possibly damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,055,656 (GRCm39) |
I82L |
probably benign |
Het |
| Sptan1 |
C |
T |
2: 29,876,504 (GRCm39) |
R295* |
probably null |
Het |
| Tdrd9 |
C |
T |
12: 111,964,336 (GRCm39) |
|
probably null |
Het |
| Ube2v2 |
A |
G |
16: 15,374,343 (GRCm39) |
L77P |
possibly damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,361,769 (GRCm39) |
S182P |
probably damaging |
Het |
| Vwa5b1 |
T |
C |
4: 138,336,201 (GRCm39) |
E131G |
probably damaging |
Het |
| Wdr18 |
C |
T |
10: 79,800,872 (GRCm39) |
A145V |
probably benign |
Het |
| Xpnpep1 |
A |
G |
19: 52,993,253 (GRCm39) |
I358T |
probably damaging |
Het |
| Zfp946 |
T |
A |
17: 22,673,676 (GRCm39) |
C143* |
probably null |
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 |
|
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'- GAGGGAAGCTGCTCACTTTG -3'
(R):5'- TCACAGTGCACCAAAGTGTC -3'
Sequencing Primer
(F):5'- CTGCTCACTTTGGTGTTGATAGATC -3'
(R):5'- CAGTGCACCAAAGTGTCGTTATTGAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation