Incidental Mutation 'IGL03047:Asic3'
| ID |
392225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asic3
|
| Ensembl Gene |
ENSMUSG00000038276 |
| Gene Name |
acid-sensing ion channel 3 |
| Synonyms |
Accn3, DRASIC |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
IGL03047 (G1)
|
| Quality Score |
182 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
24618449-24622836 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 24618788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 27
(M27L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030814]
[ENSMUST00000049346]
[ENSMUST00000073076]
[ENSMUST00000115077]
[ENSMUST00000196296]
|
| AlphaFold |
Q6X1Y6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030814
|
| SMART Domains |
Protein: ENSMUSP00000030814
Gene: ENSMUSG00000028969
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
286 |
6.11e-101 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049346
AA Change: M27L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039914
Gene: ENSMUSG00000038276
AA Change: M27L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASC
|
21 |
458 |
2.5e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073076
|
| SMART Domains |
Protein: ENSMUSP00000072826
Gene: ENSMUSG00000028973
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
44 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
130 |
407 |
3.6e-48 |
PFAM |
|
AAA
|
481 |
668 |
8.58e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115077
|
| SMART Domains |
Protein: ENSMUSP00000110729
Gene: ENSMUSG00000028973
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
44 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
130 |
407 |
1.1e-56 |
PFAM |
|
AAA
|
481 |
668 |
8.58e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136459
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151535
|
| SMART Domains |
Protein: ENSMUSP00000114767
Gene: ENSMUSG00000028973
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Zeta_toxin
|
6 |
68 |
7.5e-9 |
PFAM |
|
Pfam:ABC_tran
|
8 |
124 |
1e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196296
AA Change: M27L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143083
Gene: ENSMUSG00000038276
AA Change: M27L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ASC
|
21 |
459 |
4e-155 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198241
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197210
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198166
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198442
|
| Meta Mutation Damage Score |
0.1161 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced latency to onset of pain responses, increased sensitivity to light touch, but decreased sensitivity to noxious pinch and responses of acid- and noxious heat-sensitive nociceptors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
A |
7: 12,246,568 (GRCm39) |
H21Q |
possibly damaging |
Het |
| 4933427D14Rik |
A |
G |
11: 72,057,552 (GRCm39) |
I749T |
possibly damaging |
Het |
| Adam22 |
A |
G |
5: 8,132,220 (GRCm39) |
S869P |
probably damaging |
Het |
| Add3 |
A |
G |
19: 53,231,022 (GRCm39) |
T566A |
probably benign |
Het |
| Atp2c1 |
T |
A |
9: 105,398,206 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
T |
10: 75,535,934 (GRCm39) |
|
probably benign |
Het |
| Ccr7 |
C |
T |
11: 99,036,160 (GRCm39) |
R254H |
probably benign |
Het |
| Cdk2ap1 |
G |
T |
5: 124,486,753 (GRCm39) |
A63E |
possibly damaging |
Het |
| Cfap70 |
T |
C |
14: 20,498,646 (GRCm39) |
T14A |
possibly damaging |
Het |
| Cldn11 |
T |
A |
3: 31,217,256 (GRCm39) |
F141L |
probably damaging |
Het |
| Comp |
G |
T |
8: 70,827,559 (GRCm39) |
A107S |
possibly damaging |
Het |
| Cyp2b23 |
A |
T |
7: 26,380,892 (GRCm39) |
|
probably benign |
Het |
| Cyp2c68 |
T |
G |
19: 39,722,904 (GRCm39) |
I215L |
probably benign |
Het |
| Cyp4f17 |
T |
A |
17: 32,743,023 (GRCm39) |
I232K |
possibly damaging |
Het |
| Dram2 |
T |
G |
3: 106,480,345 (GRCm39) |
F219L |
probably damaging |
Het |
| Fam186a |
G |
A |
15: 99,843,589 (GRCm39) |
A885V |
unknown |
Het |
| Fbxo42 |
A |
G |
4: 140,926,853 (GRCm39) |
T378A |
possibly damaging |
Het |
| Frmpd1 |
T |
A |
4: 45,283,993 (GRCm39) |
V938E |
probably damaging |
Het |
| Gramd1c |
C |
A |
16: 43,808,610 (GRCm39) |
L489F |
probably damaging |
Het |
| Il17ra |
T |
C |
6: 120,458,187 (GRCm39) |
I446T |
probably damaging |
Het |
| Il36g |
G |
A |
2: 24,082,719 (GRCm39) |
A165T |
probably damaging |
Het |
| Kcne4 |
G |
T |
1: 78,795,495 (GRCm39) |
V48F |
possibly damaging |
Het |
| Ly6g6c |
T |
A |
17: 35,288,325 (GRCm39) |
|
probably null |
Het |
| Mars2 |
A |
G |
1: 55,278,032 (GRCm39) |
Y545C |
probably benign |
Het |
| Mmp12 |
T |
G |
9: 7,357,797 (GRCm39) |
|
probably benign |
Het |
| Mthfd1l |
T |
A |
10: 3,930,409 (GRCm39) |
|
probably benign |
Het |
| Nop14 |
C |
T |
5: 34,817,358 (GRCm39) |
R11K |
possibly damaging |
Het |
| Npas3 |
T |
A |
12: 53,878,470 (GRCm39) |
|
probably benign |
Het |
| Odf2 |
A |
T |
2: 29,810,907 (GRCm39) |
|
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,321,794 (GRCm39) |
M164V |
probably benign |
Het |
| Or5p73 |
T |
C |
7: 108,064,983 (GRCm39) |
S151P |
probably damaging |
Het |
| Or5w16 |
A |
G |
2: 87,577,338 (GRCm39) |
Y266C |
possibly damaging |
Het |
| Or6s1 |
A |
G |
14: 51,308,613 (GRCm39) |
I79T |
possibly damaging |
Het |
| Otud7b |
T |
C |
3: 96,058,301 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,596,799 (GRCm39) |
Y747H |
probably damaging |
Het |
| Runx1t1 |
G |
A |
4: 13,865,882 (GRCm39) |
V357I |
probably damaging |
Het |
| Seh1l |
C |
G |
18: 67,922,520 (GRCm39) |
T291R |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Sulf2 |
G |
T |
2: 165,922,814 (GRCm39) |
|
probably null |
Het |
| Tent4a |
C |
A |
13: 69,651,030 (GRCm39) |
D369Y |
probably damaging |
Het |
| Tex14 |
C |
T |
11: 87,427,530 (GRCm39) |
S1174F |
probably damaging |
Het |
| Tm9sf4 |
A |
G |
2: 153,003,326 (GRCm39) |
|
probably benign |
Het |
| Vmn2r7 |
G |
A |
3: 64,614,639 (GRCm39) |
H392Y |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,308,793 (GRCm39) |
V673D |
probably damaging |
Het |
|
| Other mutations in Asic3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01982:Asic3
|
APN |
5 |
24,622,719 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02527:Asic3
|
APN |
5 |
24,621,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02869:Asic3
|
APN |
5 |
24,621,972 (GRCm39) |
nonsense |
probably null |
|
|
E0370:Asic3
|
UTSW |
5 |
24,618,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0011:Asic3
|
UTSW |
5 |
24,622,490 (GRCm39) |
unclassified |
probably benign |
|
|
R0011:Asic3
|
UTSW |
5 |
24,622,490 (GRCm39) |
unclassified |
probably benign |
|
|
R0245:Asic3
|
UTSW |
5 |
24,618,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Asic3
|
UTSW |
5 |
24,622,700 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1464:Asic3
|
UTSW |
5 |
24,618,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Asic3
|
UTSW |
5 |
24,618,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1702:Asic3
|
UTSW |
5 |
24,620,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1824:Asic3
|
UTSW |
5 |
24,618,749 (GRCm39) |
nonsense |
probably null |
|
|
R3403:Asic3
|
UTSW |
5 |
24,621,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3722:Asic3
|
UTSW |
5 |
24,621,997 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4383:Asic3
|
UTSW |
5 |
24,618,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4573:Asic3
|
UTSW |
5 |
24,622,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4794:Asic3
|
UTSW |
5 |
24,620,895 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6701:Asic3
|
UTSW |
5 |
24,619,127 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7154:Asic3
|
UTSW |
5 |
24,618,660 (GRCm39) |
unclassified |
probably benign |
|
|
R7569:Asic3
|
UTSW |
5 |
24,619,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7956:Asic3
|
UTSW |
5 |
24,621,975 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9233:Asic3
|
UTSW |
5 |
24,618,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Asic3
|
UTSW |
5 |
24,620,875 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGCTGAGCTACTTGAGTCC -3'
(R):5'- TTACACAAAGTGACAGCTGGG -3'
Sequencing Primer
(F):5'- GAGCTACTTGAGTCCCATTTCAATC -3'
(R):5'- CTGGGAAGGTAAGCTGGTG -3'
|
| Posted On |
2016-06-09 |
Incidental Mutation