Mutagenetix > Incidental Mutation

Incidental Mutation 'R0521:Asic1'

48588

Institutional Source

Beutler Lab

Gene Symbol

Asic1

Ensembl Gene

ENSMUSG00000023017

Gene Name

acid-sensing ion channel 1

Synonyms

B530003N02Rik, ASIC1 beta, Accn2, ASIC1b, ASIC, ASIC1a, BNaC2, ASICalpha

MMRRC Submission

038714-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R0521 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99568249-99599011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99596700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 499 (R499C)

Ref Sequence

ENSEMBL: ENSMUSP00000154379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023758] [ENSMUST00000023759] [ENSMUST00000163472] [ENSMUST00000228185] [ENSMUST00000229236] [ENSMUST00000229845] [ENSMUST00000230530] [ENSMUST00000228984]

AlphaFold

Q6NXK8

Predicted Effect

probably benign
Transcript: ENSMUST00000023758
AA Change: R466C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023758
Gene: ENSMUSG00000023017
AA Change: R466C

Domain	Start	End	E-Value	Type
Pfam:ASC	21	454	9.9e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000023759

SMART Domains

Protein: ENSMUSP00000023759
Gene: ENSMUSG00000023018

Domain	Start	End	E-Value	Type
low complexity region	9	38	N/A	INTRINSIC
low complexity region	103	117	N/A	INTRINSIC
Blast:KISc	124	271	2e-43	BLAST
SWIB	291	370	1.97e-35	SMART
Blast:MYSc	452	498	2e-17	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000163472

SMART Domains

Protein: ENSMUSP00000128823
Gene: ENSMUSG00000091604

Domain	Start	End	E-Value	Type
low complexity region	18	42	N/A	INTRINSIC
low complexity region	44	78	N/A	INTRINSIC
low complexity region	85	93	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228012

Predicted Effect

probably damaging
Transcript: ENSMUST00000228185
AA Change: R499C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000229236

Predicted Effect

probably benign
Transcript: ENSMUST00000229845

Predicted Effect

probably benign
Transcript: ENSMUST00000230530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228610

Predicted Effect

probably benign
Transcript: ENSMUST00000228984

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

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 acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mutation of this gene results in absence of H⁺-gated currents in hippocampal neurons, impaired long term potentiation, reduced excitatory postsynaptic potentials, and defective spatial learning and eye blink conditioning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	T	4: 144,182,464 (GRCm39)	S335T	probably damaging	Het
Abcb1b	G	A	5: 8,914,238 (GRCm39)	A1203T	probably damaging	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Agt	C	A	8: 125,283,839 (GRCm39)	E427*	probably null	Het
Angel1	G	A	12: 86,769,681 (GRCm39)	S193F	probably benign	Het
Ankrd16	T	C	2: 11,794,692 (GRCm39)	V359A	probably benign	Het
Ankrd33b	T	C	15: 31,367,432 (GRCm39)	D36G	probably damaging	Het
Ano8	A	T	8: 71,931,902 (GRCm39)	C766S	probably benign	Het
Atpsckmt	T	G	15: 31,606,103 (GRCm39)	S20R	probably benign	Het
Bank1	C	T	3: 135,919,703 (GRCm39)	C364Y	probably damaging	Het
Bmerb1	T	A	16: 13,804,676 (GRCm39)	S8T	possibly damaging	Het
Bpifa5	C	A	2: 154,008,869 (GRCm39)	D223E	probably benign	Het
Capn5	C	T	7: 97,782,089 (GRCm39)	R217Q	probably damaging	Het
Ccm2	G	A	11: 6,540,886 (GRCm39)	S184N	probably damaging	Het
Ces5a	T	A	8: 94,252,286 (GRCm39)	D202V	probably damaging	Het
Clasrp	A	G	7: 19,322,528 (GRCm39)	I284T	probably benign	Het
Cog7	C	A	7: 121,540,392 (GRCm39)		probably null	Het
Col13a1	A	T	10: 61,698,525 (GRCm39)	M512K	unknown	Het
Cps1	A	C	1: 67,254,723 (GRCm39)	D1304A	probably benign	Het
Crhbp	C	A	13: 95,580,403 (GRCm39)		probably null	Het
Ctdspl2	T	A	2: 121,837,368 (GRCm39)	C377*	probably null	Het
Ctsl	G	A	13: 64,513,032 (GRCm39)	L297F	possibly damaging	Het
Ddost	A	G	4: 138,038,046 (GRCm39)	T262A	probably benign	Het
Ddx4	A	T	13: 112,761,313 (GRCm39)		probably null	Het
Ddx54	A	G	5: 120,764,927 (GRCm39)	I769V	probably benign	Het
Dock1	T	A	7: 134,745,507 (GRCm39)	I1463N	probably benign	Het
Dsg3	T	A	18: 20,660,872 (GRCm39)	Y404N	possibly damaging	Het
Epb42	T	A	2: 120,859,631 (GRCm39)	K186*	probably null	Het
Farp2	A	G	1: 93,504,543 (GRCm39)		probably null	Het
Fbxl9	A	T	8: 106,039,425 (GRCm39)	L617Q	probably damaging	Het
Fev	C	A	1: 74,921,692 (GRCm39)	R86L	possibly damaging	Het
Foxb2	G	T	19: 16,849,820 (GRCm39)	C395*	probably null	Het
Foxn3	A	G	12: 99,175,765 (GRCm39)	V261A	probably benign	Het
Fsd1	A	G	17: 56,298,245 (GRCm39)	D190G	probably benign	Het
Gm9930	A	T	10: 9,410,547 (GRCm39)		noncoding transcript	Het
Gsdma2	A	T	11: 98,545,727 (GRCm39)	K260*	probably null	Het
Hdac7	G	A	15: 97,704,380 (GRCm39)	Q497*	probably null	Het
Hic1	G	A	11: 75,057,713 (GRCm39)	P392L	possibly damaging	Het
Hk3	C	T	13: 55,162,239 (GRCm39)		probably null	Het
Ifna6	G	T	4: 88,745,887 (GRCm39)	V79F	probably benign	Het
Il20ra	A	T	10: 19,635,388 (GRCm39)	Q543L	probably damaging	Het
Itk	T	A	11: 46,251,115 (GRCm39)	D163V	probably damaging	Het
Kcnu1	T	G	8: 26,400,916 (GRCm39)	L688R	probably damaging	Het
Kdm5b	T	A	1: 134,545,771 (GRCm39)	S977R	possibly damaging	Het
Kng1	G	A	16: 22,879,232 (GRCm39)	A45T	possibly damaging	Het
Map1a	T	G	2: 121,136,234 (GRCm39)	L2350R	probably damaging	Het
Mdfic	A	G	6: 15,799,755 (GRCm39)	D212G	probably benign	Het
Ms4a1	C	A	19: 11,236,043 (GRCm39)		probably null	Het
Myo9a	T	A	9: 59,801,635 (GRCm39)	F1944L	probably damaging	Het
Nbea	A	T	3: 55,915,689 (GRCm39)	W928R	probably damaging	Het
Nfatc2ip	T	G	7: 125,995,751 (GRCm39)	D46A	possibly damaging	Het
Ngly1	C	T	14: 16,290,774 (GRCm38)	Q419*	probably null	Het
Nsd2	T	A	5: 34,000,682 (GRCm39)	N66K	probably damaging	Het
Nsmce4a	T	C	7: 130,138,732 (GRCm39)	H304R	probably damaging	Het
Odad2	G	A	18: 7,222,676 (GRCm39)	P531L	possibly damaging	Het
Or10a2	T	A	7: 106,673,965 (GRCm39)	L310Q	possibly damaging	Het
Or2y11	C	T	11: 49,443,291 (GRCm39)	T239M	probably damaging	Het
Or4a2	T	C	2: 89,248,544 (GRCm39)	Y71C	probably damaging	Het
Or51v8	T	A	7: 103,319,696 (GRCm39)	I181F	possibly damaging	Het
Or7e168	G	A	9: 19,720,156 (GRCm39)	V181I	probably benign	Het
Or8c20	A	C	9: 38,260,499 (GRCm39)	N40T	probably damaging	Het
Or8h9	C	T	2: 86,789,190 (GRCm39)	G204D	probably damaging	Het
Peg3	T	C	7: 6,714,427 (GRCm39)	E265G	probably damaging	Het
Pkd1	A	G	17: 24,814,193 (GRCm39)	S4188G	probably benign	Het
Pramel32	A	T	4: 88,547,559 (GRCm39)	N37K	probably damaging	Het
R3hdm1	G	A	1: 128,121,440 (GRCm39)	V315I	probably benign	Het
Rab24	A	T	13: 55,468,738 (GRCm39)		probably null	Het
Rap1gap2	A	T	11: 74,332,592 (GRCm39)	M71K	probably damaging	Het
Rergl	T	G	6: 139,473,524 (GRCm39)	K42T	probably damaging	Het
Septin5	T	C	16: 18,443,647 (GRCm39)	T92A	probably benign	Het
Setdb1	A	G	3: 95,246,140 (GRCm39)	V595A	probably benign	Het
Slc17a8	A	G	10: 89,412,192 (GRCm39)	S414P	probably benign	Het
Thnsl2	A	T	6: 71,111,243 (GRCm39)	D208E	probably damaging	Het
Tie1	A	C	4: 118,333,343 (GRCm39)	I841R	probably damaging	Het
Tll1	T	G	8: 64,551,505 (GRCm39)	D292A	probably damaging	Het
Tnfaip8l1	A	T	17: 56,478,727 (GRCm39)	T6S	probably damaging	Het
Trim17	T	A	11: 58,859,320 (GRCm39)	V178E	probably damaging	Het
Ttc27	A	T	17: 75,163,544 (GRCm39)	R717S	possibly damaging	Het
Upk2	G	T	9: 44,365,418 (GRCm39)	P50Q	probably damaging	Het
Usp9y	A	T	Y: 1,307,880 (GRCm39)	C2319S	probably benign	Het
Vmn2r100	A	T	17: 19,742,178 (GRCm39)	D184V	probably damaging	Het
Vmn2r9	C	A	5: 108,996,154 (GRCm39)	G165*	probably null	Het
Xkr6	A	T	14: 64,056,871 (GRCm39)	I261F	probably benign	Het
Xpnpep3	T	G	15: 81,311,693 (GRCm39)	I133S	possibly damaging	Het
Yipf1	A	G	4: 107,193,387 (GRCm39)	Y91C	probably benign	Het
Zfp442	T	C	2: 150,253,169 (GRCm39)	D31G	possibly damaging	Het
Zfp628	A	T	7: 4,922,939 (GRCm39)	Q387L	probably damaging	Het
Zfp804a	C	T	2: 82,089,761 (GRCm39)	Q1197*	probably null	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	Het

Other mutations in Asic1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Asic1	APN	15	99,569,998 (GRCm39)	missense	probably damaging	0.99
IGL01418:Asic1	APN	15	99,569,998 (GRCm39)	missense	probably damaging	0.99
IGL01718:Asic1	APN	15	99,569,883 (GRCm39)	missense	probably damaging	1.00
IGL01941:Asic1	APN	15	99,596,982 (GRCm39)	missense	possibly damaging	0.95
IGL01993:Asic1	APN	15	99,595,353 (GRCm39)	missense	probably benign	0.01
IGL02097:Asic1	APN	15	99,592,567 (GRCm39)	splice site	probably benign
IGL03028:Asic1	APN	15	99,570,038 (GRCm39)	missense	probably benign	0.03
IGL03082:Asic1	APN	15	99,594,428 (GRCm39)	missense	probably benign
IGL03183:Asic1	APN	15	99,569,898 (GRCm39)	missense	probably benign	0.43
IGL03231:Asic1	APN	15	99,596,983 (GRCm39)	missense	probably benign	0.42
R0111:Asic1	UTSW	15	99,594,864 (GRCm39)	missense	probably damaging	1.00
R0243:Asic1	UTSW	15	99,596,498 (GRCm39)	unclassified	probably benign
R0316:Asic1	UTSW	15	99,569,819 (GRCm39)	missense	probably benign	0.03
R0518:Asic1	UTSW	15	99,596,700 (GRCm39)	missense	probably damaging	1.00
R0520:Asic1	UTSW	15	99,593,416 (GRCm39)	missense	probably damaging	1.00
R0610:Asic1	UTSW	15	99,596,780 (GRCm39)	missense	probably benign	0.14
R1034:Asic1	UTSW	15	99,595,939 (GRCm39)	missense	probably damaging	1.00
R1666:Asic1	UTSW	15	99,597,006 (GRCm39)	missense	probably damaging	1.00
R1796:Asic1	UTSW	15	99,594,535 (GRCm39)	missense	probably null	0.99
R1993:Asic1	UTSW	15	99,569,765 (GRCm39)	missense	probably damaging	1.00
R2130:Asic1	UTSW	15	99,569,756 (GRCm39)	missense	possibly damaging	0.73
R2180:Asic1	UTSW	15	99,569,846 (GRCm39)	missense	probably benign
R2895:Asic1	UTSW	15	99,594,483 (GRCm39)	missense	probably benign	0.22
R3793:Asic1	UTSW	15	99,569,906 (GRCm39)	nonsense	probably null
R3848:Asic1	UTSW	15	99,570,814 (GRCm39)	missense	probably benign	0.01
R5115:Asic1	UTSW	15	99,569,933 (GRCm39)	missense	probably damaging	0.97
R5186:Asic1	UTSW	15	99,596,684 (GRCm39)	unclassified	probably benign
R5187:Asic1	UTSW	15	99,596,684 (GRCm39)	unclassified	probably benign
R5409:Asic1	UTSW	15	99,596,684 (GRCm39)	unclassified	probably benign
R6011:Asic1	UTSW	15	99,596,960 (GRCm39)	missense	probably benign	0.05
R6383:Asic1	UTSW	15	99,596,761 (GRCm39)	missense	probably damaging	0.96
R7133:Asic1	UTSW	15	99,569,968 (GRCm39)	missense	probably damaging	1.00
R7255:Asic1	UTSW	15	99,595,338 (GRCm39)	missense	probably damaging	0.97
R7587:Asic1	UTSW	15	99,593,471 (GRCm39)	missense	probably damaging	1.00
R8012:Asic1	UTSW	15	99,594,532 (GRCm39)	missense	possibly damaging	0.92
R8030:Asic1	UTSW	15	99,592,722 (GRCm39)	missense	possibly damaging	0.56
R8089:Asic1	UTSW	15	99,595,968 (GRCm39)	missense	probably damaging	1.00
R8919:Asic1	UTSW	15	99,569,826 (GRCm39)	missense	probably benign	0.40
R9417:Asic1	UTSW	15	99,590,405 (GRCm39)	missense	probably benign
R9534:Asic1	UTSW	15	99,594,397 (GRCm39)	missense	probably benign	0.01
R9646:Asic1	UTSW	15	99,593,414 (GRCm39)	missense	probably benign	0.17
R9717:Asic1	UTSW	15	99,590,657 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGTTCATCGGGGCCAGCATC -3'
(R):5'- GGTCAAGACTCCTTTCTCACCACAG -3'

Sequencing Primer
(F):5'- GCCAGCATCCTCACAGTG -3'
(R):5'- ATGCAGTTTAAGTCCCCAGG -3'

Posted On

2013-06-12