Mutagenetix > Incidental Mutation

Incidental Mutation 'R6086:Asic4'

482456

Institutional Source

Beutler Lab

Gene Symbol

Asic4

Ensembl Gene

ENSMUSG00000033007

Gene Name

acid-sensing (proton-gated) ion channel family member 4

Synonyms

MMRRC Submission

044427-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75450436-75474343 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75473243 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 468 (V468I)

Ref Sequence

ENSEMBL: ENSMUSP00000045598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037708] [ENSMUST00000079205] [ENSMUST00000094818] [ENSMUST00000113577] [ENSMUST00000124042] [ENSMUST00000138683]

AlphaFold

Q7TNS7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037708
AA Change: V468I

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000045598
Gene: ENSMUSG00000033007
AA Change: V468I

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

possibly damaging
Transcript: ENSMUST00000113577
AA Change: V449I

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109207
Gene: ENSMUSG00000033007
AA Change: V449I

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: ENSMUST00000124042

SMART Domains

Protein: ENSMUSP00000122057
Gene: ENSMUSG00000032997

Domain	Start	End	E-Value	Type
low complexity region	37	46	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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (65/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110062M04Rik	A	G	6: 34,874,620 (GRCm38)	S127P	probably damaging	Het
Apob	G	T	12: 8,015,164 (GRCm38)	K4044N	probably benign	Het
Atf4	T	A	15: 80,257,453 (GRCm38)	V348D	probably benign	Het
Bcl9	A	G	3: 97,205,524 (GRCm38)	V1205A	possibly damaging	Het
Bora	A	T	14: 99,062,294 (GRCm38)	Q234L	possibly damaging	Het
Cap2	C	A	13: 46,635,712 (GRCm38)	P131Q	probably damaging	Het
Cdyl2	A	G	8: 116,589,296 (GRCm38)	S318P	probably damaging	Het
Ces1a	T	G	8: 93,027,353 (GRCm38)	N341H	probably benign	Het
Crlf3	C	T	11: 80,048,610 (GRCm38)	V352M	possibly damaging	Het
Cybb	C	G	X: 9,450,750 (GRCm38)	D246H	probably benign	Het
Dnah2	T	C	11: 69,516,008 (GRCm38)	T529A	probably benign	Het
Dnah9	A	C	11: 66,085,174 (GRCm38)	S1350A	probably benign	Het
Dnah9	C	T	11: 65,989,915 (GRCm38)	D2619N	probably damaging	Het
Dnajc6	C	T	4: 101,597,807 (GRCm38)	S65L	probably benign	Het
Dnm3	C	A	1: 162,321,033 (GRCm38)	R256S	probably damaging	Het
Enpp2	T	C	15: 54,845,834 (GRCm38)	D795G	probably damaging	Het
Fah	A	T	7: 84,588,912 (GRCm38)	W367R	probably damaging	Het
Fam220a	T	A	5: 143,563,041 (GRCm38)	H69Q	probably benign	Het
Fgd3	T	A	13: 49,287,296 (GRCm38)	T220S	probably benign	Het
Furin	G	T	7: 80,395,431 (GRCm38)	H248Q	probably damaging	Het
Gabrg1	A	T	5: 70,754,053 (GRCm38)	L410Q	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,663,803 (GRCm38)		probably null	Het
Gm9742	T	C	13: 8,030,033 (GRCm38)		noncoding transcript	Het
Gpcpd1	A	G	2: 132,538,114 (GRCm38)	S252P	probably damaging	Het
Hnrnpdl	C	T	5: 100,036,481 (GRCm38)	G398S	probably null	Het
Hspa1l	T	C	17: 34,978,155 (GRCm38)	V390A	possibly damaging	Het
Htr3b	T	C	9: 48,947,298 (GRCm38)	S94G	probably benign	Het
Klf10	G	T	15: 38,296,937 (GRCm38)	S271R	probably benign	Het
Klk1b3	T	A	7: 44,201,734 (GRCm38)	L197Q	probably damaging	Het
Knl1	A	G	2: 119,094,068 (GRCm38)	R1861G	probably damaging	Het
Lexm	T	C	4: 106,613,206 (GRCm38)	E218G	probably damaging	Het
Myo9a	C	T	9: 59,790,057 (GRCm38)	Q374*	probably null	Het
Myt1l	G	A	12: 29,832,332 (GRCm38)	G509R	unknown	Het
Ncapg	T	C	5: 45,693,236 (GRCm38)	L728P	probably damaging	Het
Nfxl1	A	C	5: 72,541,019 (GRCm38)	F228V	probably benign	Het
Oc90	A	G	15: 65,889,711 (GRCm38)	S153P	probably damaging	Het
Olfr1230	A	G	2: 89,296,854 (GRCm38)	C139R	probably damaging	Het
Olfr1458	A	G	19: 13,102,381 (GRCm38)	*308Q	probably null	Het
Pbk	A	T	14: 65,815,253 (GRCm38)	K182*	probably null	Het
Piezo1	A	G	8: 122,501,657 (GRCm38)	F296S	possibly damaging	Het
Psmg1	T	A	16: 95,980,044 (GRCm38)	Y288F	probably damaging	Het
Rab11fip4	G	A	11: 79,683,480 (GRCm38)	D132N	probably damaging	Het
Recql4	T	C	15: 76,704,587 (GRCm38)	D1051G	probably damaging	Het
Reep5	A	C	18: 34,357,131 (GRCm38)	D104E	probably damaging	Het
Rnpepl1	T	C	1: 92,917,681 (GRCm38)	Y441H	probably damaging	Het
Scnm1	T	C	3: 95,130,285 (GRCm38)	I157V	probably benign	Het
Sema3b	T	C	9: 107,600,848 (GRCm38)	D446G	probably damaging	Het
Sema4d	C	T	13: 51,713,745 (GRCm38)	R190Q	probably damaging	Het
Slco3a1	G	A	7: 74,318,590 (GRCm38)	R461C	possibly damaging	Het
Tcrg-C3	T	C	13: 19,263,284 (GRCm38)	S136P	probably damaging	Het
Tenm2	T	A	11: 36,008,646 (GRCm38)	I2562F	possibly damaging	Het
Thegl	T	A	5: 77,061,305 (GRCm38)	V458E	probably benign	Het
Tmem40	G	T	6: 115,733,667 (GRCm38)	N120K	possibly damaging	Het
Tmod3	T	C	9: 75,500,123 (GRCm38)	H351R	probably benign	Het
Tnn	C	T	1: 160,086,120 (GRCm38)	V1268M	probably damaging	Het
Tpmt	T	A	13: 47,035,030 (GRCm38)	D132V	probably damaging	Het
Trib1	G	A	15: 59,654,475 (GRCm38)	R298H	probably damaging	Het
Tsen2	A	G	6: 115,560,075 (GRCm38)	E264G	probably benign	Het
Urah	A	G	7: 140,836,798 (GRCm38)	I60M	probably benign	Het
Vmn2r26	T	A	6: 124,039,560 (GRCm38)	S328T	possibly damaging	Het
Vmn2r27	G	C	6: 124,191,999 (GRCm38)	T724R	probably damaging	Het
Washc2	A	G	6: 116,256,216 (GRCm38)		probably null	Het
Wdyhv1	C	A	15: 58,150,628 (GRCm38)	A71E	probably damaging	Het
Zfp955b	T	A	17: 33,302,504 (GRCm38)	W316R	probably benign	Het
Zranb2	T	C	3: 157,543,246 (GRCm38)		probably null	Het

Other mutations in Asic4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Asic4	APN	1	75,469,146 (GRCm38)	missense	possibly damaging	0.94
IGL01470:Asic4	APN	1	75,450,866 (GRCm38)	missense	probably damaging	1.00
IGL02645:Asic4	APN	1	75,473,354 (GRCm38)	unclassified	probably benign
IGL03002:Asic4	APN	1	75,451,323 (GRCm38)	missense	possibly damaging	0.61
positron	UTSW	1	75,473,043 (GRCm38)	nonsense	probably null
PIT4445001:Asic4	UTSW	1	75,451,127 (GRCm38)	missense	probably benign	0.03
R0106:Asic4	UTSW	1	75,451,127 (GRCm38)	missense	probably benign	0.03
R0138:Asic4	UTSW	1	75,469,687 (GRCm38)	missense	possibly damaging	0.87
R0453:Asic4	UTSW	1	75,473,511 (GRCm38)	unclassified	probably benign
R0573:Asic4	UTSW	1	75,469,102 (GRCm38)	splice site	probably benign
R0705:Asic4	UTSW	1	75,451,370 (GRCm38)	missense	probably damaging	1.00
R1892:Asic4	UTSW	1	75,469,482 (GRCm38)	missense	probably damaging	1.00
R1912:Asic4	UTSW	1	75,469,232 (GRCm38)	missense	possibly damaging	0.93
R3614:Asic4	UTSW	1	75,473,058 (GRCm38)	missense	probably damaging	1.00
R3790:Asic4	UTSW	1	75,469,841 (GRCm38)	unclassified	probably benign
R3923:Asic4	UTSW	1	75,451,227 (GRCm38)	missense	probably damaging	1.00
R4447:Asic4	UTSW	1	75,470,370 (GRCm38)	unclassified	probably benign
R5177:Asic4	UTSW	1	75,450,839 (GRCm38)	missense	probably damaging	1.00
R5208:Asic4	UTSW	1	75,451,226 (GRCm38)	missense	probably damaging	1.00
R5266:Asic4	UTSW	1	75,450,923 (GRCm38)	missense	probably benign	0.03
R5436:Asic4	UTSW	1	75,451,319 (GRCm38)	missense	probably benign	0.09
R5921:Asic4	UTSW	1	75,451,373 (GRCm38)	missense	probably benign	0.30
R6512:Asic4	UTSW	1	75,473,043 (GRCm38)	nonsense	probably null
R6530:Asic4	UTSW	1	75,472,335 (GRCm38)	missense	probably damaging	0.98
R7545:Asic4	UTSW	1	75,472,416 (GRCm38)	missense	probably damaging	0.98
R9129:Asic4	UTSW	1	75,469,825 (GRCm38)	missense	possibly damaging	0.77
R9322:Asic4	UTSW	1	75,469,818 (GRCm38)	missense	probably benign	0.38
Z1177:Asic4	UTSW	1	75,469,220 (GRCm38)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ATTGGGGCTAGCATCCTCAC -3'
(R):5'- ACTTTCAGGAAGTGGCTATGGG -3'

Posted On

2017-07-14