Mutagenetix > Incidental Mutations

Incidental Mutation 'R4447:Asic4'

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) question?

Stock #

R4447 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75450436-75474343 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 75470370 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037708] [ENSMUST00000079205] [ENSMUST00000094818] [ENSMUST00000113577] [ENSMUST00000138683]

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
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