Incidental Mutation 'IGL01155:Asic5'
| ID |
50821 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Asic5
|
| Ensembl Gene |
ENSMUSG00000028008 |
| Gene Name |
acid-sensing (proton-gated) ion channel family member 5 |
| Synonyms |
BLINaC, Accn5, brain-liver-intestine amiloride-sensitive sodium channel |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01155
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
81982290-82021233 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82008588 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 282
(T282A)
|
| 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: T282A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000029641
Gene: ENSMUSG00000028008
AA Change: T282A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASC
|
41 |
466 |
3.5e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107736
AA Change: T240A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000103364
Gene: ENSMUSG00000028008
AA Change: T240A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASC
|
1 |
425 |
5.5e-110 |
PFAM |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,950,275 (GRCm38) |
V124I |
probably damaging |
Het |
| Adgrl3 |
T |
A |
5: 81,560,893 (GRCm38) |
I409N |
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,569,936 (GRCm38) |
D29G |
probably damaging |
Het |
| Ap4e1 |
C |
A |
2: 127,043,445 (GRCm38) |
T322K |
probably damaging |
Het |
| Arfgef1 |
G |
A |
1: 10,198,982 (GRCm38) |
|
probably benign |
Het |
| Bptf |
T |
C |
11: 107,080,727 (GRCm38) |
T985A |
probably damaging |
Het |
| Btnl9 |
A |
G |
11: 49,175,691 (GRCm38) |
F349L |
probably damaging |
Het |
| Bves |
T |
A |
10: 45,353,859 (GRCm38) |
I253K |
probably damaging |
Het |
| Cars |
T |
A |
7: 143,569,849 (GRCm38) |
Y455F |
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm38) |
S162N |
probably damaging |
Het |
| Cuedc2 |
C |
A |
19: 46,332,649 (GRCm38) |
V15F |
probably damaging |
Het |
| Defa22 |
T |
A |
8: 21,163,037 (GRCm38) |
|
probably null |
Het |
| Fat1 |
G |
A |
8: 45,023,949 (GRCm38) |
A2011T |
probably damaging |
Het |
| Fyb2 |
C |
T |
4: 104,999,386 (GRCm38) |
T533I |
probably benign |
Het |
| Gm1043 |
T |
C |
5: 37,187,089 (GRCm38) |
L182P |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,604,082 (GRCm38) |
V1295E |
possibly damaging |
Het |
| Il12b |
T |
A |
11: 44,404,088 (GRCm38) |
S18T |
probably benign |
Het |
| Iqcg |
A |
G |
16: 33,040,875 (GRCm38) |
V157A |
probably damaging |
Het |
| Itgax |
T |
A |
7: 128,145,035 (GRCm38) |
M937K |
probably benign |
Het |
| Large1 |
T |
C |
8: 73,131,989 (GRCm38) |
S84G |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,770,935 (GRCm38) |
T54A |
probably benign |
Het |
| Mfn1 |
A |
G |
3: 32,542,836 (GRCm38) |
M148V |
probably damaging |
Het |
| Mobp |
C |
A |
9: 120,168,234 (GRCm38) |
T73K |
probably benign |
Het |
| Ms4a3 |
T |
C |
19: 11,629,655 (GRCm38) |
|
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,806,943 (GRCm38) |
|
probably benign |
Het |
| Mzt2 |
A |
C |
16: 15,862,410 (GRCm38) |
S104A |
possibly damaging |
Het |
| Naa16 |
T |
A |
14: 79,384,715 (GRCm38) |
K27N |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 117,945,926 (GRCm38) |
I1267N |
probably damaging |
Het |
| Olfr16 |
T |
A |
1: 172,956,924 (GRCm38) |
I43N |
probably benign |
Het |
| Rara |
A |
G |
11: 98,968,184 (GRCm38) |
E153G |
possibly damaging |
Het |
| Scn2a |
T |
G |
2: 65,717,748 (GRCm38) |
S66A |
probably damaging |
Het |
| Slc6a1 |
A |
T |
6: 114,314,465 (GRCm38) |
|
probably null |
Het |
| Sorbs3 |
A |
G |
14: 70,199,341 (GRCm38) |
V136A |
probably damaging |
Het |
| Spink5 |
T |
A |
18: 43,981,147 (GRCm38) |
H143Q |
probably benign |
Het |
| Susd2 |
G |
A |
10: 75,640,892 (GRCm38) |
T99I |
possibly damaging |
Het |
| T |
C |
T |
17: 8,441,745 (GRCm38) |
|
probably null |
Het |
| Tac2 |
G |
A |
10: 127,726,134 (GRCm38) |
|
probably null |
Het |
| Tfap4 |
G |
T |
16: 4,547,359 (GRCm38) |
P180T |
probably damaging |
Het |
| Trap1 |
G |
A |
16: 4,043,978 (GRCm38) |
Q641* |
probably null |
Het |
| Unc119 |
A |
G |
11: 78,348,609 (GRCm38) |
N252S |
probably damaging |
Het |
|
| Other mutations in Asic5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00977:Asic5
|
APN |
3 |
82,004,646 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL01908:Asic5
|
APN |
3 |
82,006,570 (GRCm38) |
nonsense |
probably null |
|
|
IGL03049:Asic5
|
APN |
3 |
81,996,949 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03078:Asic5
|
APN |
3 |
82,014,428 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R0498:Asic5
|
UTSW |
3 |
82,006,471 (GRCm38) |
splice site |
probably benign |
|
|
R0517:Asic5
|
UTSW |
3 |
82,009,526 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0668:Asic5
|
UTSW |
3 |
82,021,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0960:Asic5
|
UTSW |
3 |
82,006,540 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0973:Asic5
|
UTSW |
3 |
82,008,448 (GRCm38) |
splice site |
probably benign |
|
|
R1061:Asic5
|
UTSW |
3 |
82,021,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1106:Asic5
|
UTSW |
3 |
82,004,590 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1703:Asic5
|
UTSW |
3 |
81,999,722 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R1864:Asic5
|
UTSW |
3 |
82,011,987 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1892:Asic5
|
UTSW |
3 |
82,020,986 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4629:Asic5
|
UTSW |
3 |
82,006,504 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4736:Asic5
|
UTSW |
3 |
81,999,809 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R5254:Asic5
|
UTSW |
3 |
82,020,987 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5284:Asic5
|
UTSW |
3 |
82,008,523 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5573:Asic5
|
UTSW |
3 |
82,004,484 (GRCm38) |
missense |
probably benign |
0.10 |
|
R6163:Asic5
|
UTSW |
3 |
82,006,526 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6359:Asic5
|
UTSW |
3 |
82,004,496 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6553:Asic5
|
UTSW |
3 |
82,009,466 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R6623:Asic5
|
UTSW |
3 |
82,008,585 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7084:Asic5
|
UTSW |
3 |
82,012,011 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7168:Asic5
|
UTSW |
3 |
82,011,975 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7296:Asic5
|
UTSW |
3 |
82,021,076 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7304:Asic5
|
UTSW |
3 |
82,009,565 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7885:Asic5
|
UTSW |
3 |
82,006,505 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8941:Asic5
|
UTSW |
3 |
82,006,608 (GRCm38) |
splice site |
probably benign |
|
|
R9391:Asic5
|
UTSW |
3 |
82,021,059 (GRCm38) |
missense |
probably benign |
|
|
R9542:Asic5
|
UTSW |
3 |
82,004,543 (GRCm38) |
missense |
probably benign |
0.32 |
|
| Posted On |
2013-06-21 |
Incidental Mutation