Incidental Mutation 'R4447:Asic4'
| ID |
328785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asic4
|
| Ensembl Gene |
ENSMUSG00000033007 |
| Gene Name |
acid-sensing (proton-gated) ion channel family member 4 |
| Synonyms |
|
| MMRRC Submission |
041708-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4447 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75450436-75474343 bp(+) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 75470370 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037708]
[ENSMUST00000079205]
[ENSMUST00000094818]
[ENSMUST00000113577]
[ENSMUST00000138683]
|
| AlphaFold |
Q7TNS7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037708
|
| SMART Domains |
Protein: ENSMUSP00000045598
Gene: ENSMUSG00000033007
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
Pfam:ASC
|
45 |
464 |
5.3e-92 |
PFAM |
|
low complexity region
|
507 |
533 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079205
|
| SMART Domains |
Protein: ENSMUSP00000078199
Gene: ENSMUSG00000032997
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
Pfam:CHGN
|
262 |
761 |
5e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094818
|
| SMART Domains |
Protein: ENSMUSP00000092412
Gene: ENSMUSG00000032997
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CHGN
|
100 |
599 |
3.3e-174 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113577
|
| SMART Domains |
Protein: ENSMUSP00000109207
Gene: ENSMUSG00000033007
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
Pfam:ASC
|
45 |
346 |
5.5e-94 |
PFAM |
|
Pfam:ASC
|
344 |
446 |
1.4e-42 |
PFAM |
|
low complexity region
|
488 |
514 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138683
|
| SMART Domains |
Protein: ENSMUSP00000117253
Gene: ENSMUSG00000032997
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194916
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous knockout increases the fear response in the predator-odor induced fear test and increases anxiety in open field and elevated plus maze tests. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700014D04Rik |
T |
C |
13: 59,742,198 |
T603A |
probably benign |
Het |
| 3930402G23Rik |
T |
A |
8: 10,926,129 |
|
noncoding transcript |
Het |
| Acsf2 |
G |
T |
11: 94,569,359 |
P389Q |
possibly damaging |
Het |
| Aldh6a1 |
A |
G |
12: 84,439,709 |
V120A |
possibly damaging |
Het |
| Alg11 |
C |
A |
8: 22,068,079 |
A469E |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,687,789 |
S415P |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,761,578 |
|
probably null |
Het |
| Atp1a4 |
A |
C |
1: 172,234,431 |
I709S |
probably damaging |
Het |
| Cyp11b2 |
T |
C |
15: 74,855,563 |
I90V |
probably benign |
Het |
| Fam129a |
A |
T |
1: 151,636,402 |
|
probably null |
Het |
| Galnt2 |
A |
G |
8: 124,295,377 |
D14G |
probably benign |
Het |
| Iqcm |
T |
C |
8: 75,629,766 |
S176P |
probably damaging |
Het |
| Irf5 |
T |
A |
6: 29,535,942 |
D318E |
probably damaging |
Het |
| Map2k3 |
A |
T |
11: 60,947,171 |
S253C |
probably damaging |
Het |
| Mgst1 |
G |
T |
6: 138,141,664 |
|
probably benign |
Het |
| Mipol1 |
G |
T |
12: 57,352,748 |
|
probably benign |
Het |
| Olfr371 |
T |
A |
8: 85,231,366 |
Y290* |
probably null |
Het |
| Pomgnt1 |
G |
T |
4: 116,152,923 |
V161L |
possibly damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,611,137 |
|
probably benign |
Het |
| Rxfp1 |
C |
T |
3: 79,652,127 |
|
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,550,627 |
D197G |
probably damaging |
Het |
| Thsd7a |
G |
A |
6: 12,324,635 |
T1479I |
probably damaging |
Het |
| Twsg1 |
C |
T |
17: 65,929,787 |
D83N |
possibly damaging |
Het |
| Ubqln3 |
C |
T |
7: 104,142,814 |
R23Q |
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,777,107 |
I50V |
probably damaging |
Het |
| Wnk4 |
T |
A |
11: 101,268,451 |
S565T |
possibly damaging |
Het |
| Wwc2 |
A |
G |
8: 47,868,667 |
Y471H |
unknown |
Het |
| Zfp407 |
A |
T |
18: 84,562,694 |
V98D |
possibly damaging |
Het |
| Zfp598 |
T |
A |
17: 24,676,555 |
V73E |
probably damaging |
Het |
| Zscan29 |
T |
A |
2: 121,169,886 |
|
probably null |
Het |
|
| Other mutations in Asic4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01399:Asic4
|
APN |
1 |
75469146 |
missense |
possibly damaging |
0.94 |
|
IGL01470:Asic4
|
APN |
1 |
75450866 |
missense |
probably damaging |
1.00 |
|
IGL02645:Asic4
|
APN |
1 |
75473354 |
unclassified |
probably benign |
|
|
IGL03002:Asic4
|
APN |
1 |
75451323 |
missense |
possibly damaging |
0.61 |
|
positron
|
UTSW |
1 |
75473043 |
nonsense |
probably null |
|
|
PIT4445001:Asic4
|
UTSW |
1 |
75451127 |
missense |
probably benign |
0.03 |
|
R0106:Asic4
|
UTSW |
1 |
75451127 |
missense |
probably benign |
0.03 |
|
R0138:Asic4
|
UTSW |
1 |
75469687 |
missense |
possibly damaging |
0.87 |
|
R0453:Asic4
|
UTSW |
1 |
75473511 |
unclassified |
probably benign |
|
|
R0573:Asic4
|
UTSW |
1 |
75469102 |
splice site |
probably benign |
|
|
R0705:Asic4
|
UTSW |
1 |
75451370 |
missense |
probably damaging |
1.00 |
|
R1892:Asic4
|
UTSW |
1 |
75469482 |
missense |
probably damaging |
1.00 |
|
R1912:Asic4
|
UTSW |
1 |
75469232 |
missense |
possibly damaging |
0.93 |
|
R3614:Asic4
|
UTSW |
1 |
75473058 |
missense |
probably damaging |
1.00 |
|
R3790:Asic4
|
UTSW |
1 |
75469841 |
unclassified |
probably benign |
|
|
R3923:Asic4
|
UTSW |
1 |
75451227 |
missense |
probably damaging |
1.00 |
|
R5177:Asic4
|
UTSW |
1 |
75450839 |
missense |
probably damaging |
1.00 |
|
R5208:Asic4
|
UTSW |
1 |
75451226 |
missense |
probably damaging |
1.00 |
|
R5266:Asic4
|
UTSW |
1 |
75450923 |
missense |
probably benign |
0.03 |
|
R5436:Asic4
|
UTSW |
1 |
75451319 |
missense |
probably benign |
0.09 |
|
R5921:Asic4
|
UTSW |
1 |
75451373 |
missense |
probably benign |
0.30 |
|
R6086:Asic4
|
UTSW |
1 |
75473243 |
missense |
possibly damaging |
0.64 |
|
R6512:Asic4
|
UTSW |
1 |
75473043 |
nonsense |
probably null |
|
|
R6530:Asic4
|
UTSW |
1 |
75472335 |
missense |
probably damaging |
0.98 |
|
R7545:Asic4
|
UTSW |
1 |
75472416 |
missense |
probably damaging |
0.98 |
|
R9129:Asic4
|
UTSW |
1 |
75469825 |
missense |
possibly damaging |
0.77 |
|
R9322:Asic4
|
UTSW |
1 |
75469818 |
missense |
probably benign |
0.38 |
|
Z1177:Asic4
|
UTSW |
1 |
75469220 |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCGAAGACTGTAACATGATTGTG -3'
(R):5'- TGGTCTGCCATCACTTACCG -3'
Sequencing Primer
(F):5'- GAAGACTGTAACATGATTGTGTAAGC -3'
(R):5'- TGCCATCACTTACCGAGTATCTGAAG -3'
|
| Posted On |
2015-07-21 |
