Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Asic1'

279654

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Asic1

Ensembl Gene

ENSMUSG00000023017

Gene Name

acid-sensing (proton-gated) ion channel 1

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

99670368-99701130 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 99694686 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023758] [ENSMUST00000228185]

AlphaFold

Q6NXK8

Predicted Effect

probably benign
Transcript: ENSMUST00000023758

SMART Domains

Protein: ENSMUSP00000023758
Gene: ENSMUSG00000023017

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228012

Predicted Effect

probably benign
Transcript: ENSMUST00000228185

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228610

Coding Region Coverage

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	T	5: 104,961,186	V415D	possibly damaging	Het
Adcy3	C	T	12: 4,212,118	A1056V	probably damaging	Het
Adcy5	G	A	16: 35,272,098	A610T	probably damaging	Het
Arhgap21	G	A	2: 20,880,002	T788I	probably benign	Het
Cdhr4	T	A	9: 107,993,000	M68K	probably benign	Het
Cdhr5	G	T	7: 141,269,981	T637K	probably damaging	Het
Corin	A	T	5: 72,372,146	C289S	probably damaging	Het
Cpne4	T	C	9: 104,686,502	V26A	probably damaging	Het
Csmd1	T	C	8: 16,211,759	D908G	probably null	Het
Cyp2c29	A	G	19: 39,307,620	D126G	probably damaging	Het
Ddx42	G	A	11: 106,239,160	S426N	probably benign	Het
Dnah1	C	T	14: 31,305,001	V689M	possibly damaging	Het
Dtwd1	A	G	2: 126,164,795	T246A	probably damaging	Het
Fbn1	A	T	2: 125,363,969	M1036K	probably damaging	Het
Fbxo10	T	C	4: 45,048,527	N536S	probably benign	Het
Gnal	G	A	18: 67,217,208		probably benign	Het
Gns	A	G	10: 121,390,693	T416A	probably benign	Het
Heatr5b	G	A	17: 78,817,514	T603I	probably damaging	Het
Hsp90b1	T	A	10: 86,691,684		probably benign	Het
Krt23	C	T	11: 99,493,010	G19R	probably benign	Het
Lama2	C	T	10: 27,138,960	R1584H	probably benign	Het
Lmbr1l	C	T	15: 98,917,891	V11M	probably damaging	Het
Man1a2	T	C	3: 100,582,131	K511E	possibly damaging	Het
Mrgpra3	C	A	7: 47,589,456	V241F	possibly damaging	Het
Myh3	A	G	11: 67,082,924	D141G	probably benign	Het
Mylk2	G	A	2: 152,915,136	C277Y	probably damaging	Het
Myo3b	A	T	2: 70,238,829	T471S	probably damaging	Het
Naip1	A	G	13: 100,425,588	V1023A	probably benign	Het
Olfm5	T	A	7: 104,154,231	T342S	probably benign	Het
Olfr1510	A	G	14: 52,410,054	F273L	probably benign	Het
Olfr38	T	A	6: 42,762,460	M136K	probably damaging	Het
Pglyrp4	T	C	3: 90,735,603	F263L	probably benign	Het
Plekhh2	A	T	17: 84,599,180	T1148S	possibly damaging	Het
Prrc2b	T	C	2: 32,191,501		probably benign	Het
Rbm28	G	T	6: 29,138,618	D398E	possibly damaging	Het
Rnf220	A	G	4: 117,273,327	F234L	probably benign	Het
Sele	T	C	1: 164,053,093	S415P	probably benign	Het
Shpk	T	C	11: 73,203,995	L79P	probably damaging	Het
Slc35f4	C	T	14: 49,306,246	A148T	probably damaging	Het
Slc6a20a	G	A	9: 123,660,619	P120S	possibly damaging	Het
Slc8a2	A	G	7: 16,157,156	E701G	possibly damaging	Het
Slco1a1	T	A	6: 141,940,039	I87F	possibly damaging	Het
Srebf1	T	G	11: 60,202,824	D739A	probably damaging	Het
Thg1l	A	G	11: 45,950,228	Y175H	probably benign	Het
Traf3ip2	G	A	10: 39,654,479	V540M	probably damaging	Het
Wdr48	A	G	9: 119,924,263	D644G	probably damaging	Het
Zbtb1	A	T	12: 76,386,597	K452N	probably damaging	Het
Zfhx2	C	T	14: 55,062,894	G2467R	probably damaging	Het
Zfp334	A	T	2: 165,381,723	Y133*	probably null	Het

Other mutations in Asic1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Asic1	APN	15	99672117	missense	probably damaging	0.99
IGL01418:Asic1	APN	15	99672117	missense	probably damaging	0.99
IGL01718:Asic1	APN	15	99672002	missense	probably damaging	1.00
IGL01941:Asic1	APN	15	99699101	missense	possibly damaging	0.95
IGL01993:Asic1	APN	15	99697472	missense	probably benign	0.01
IGL03028:Asic1	APN	15	99672157	missense	probably benign	0.03
IGL03082:Asic1	APN	15	99696547	missense	probably benign
IGL03183:Asic1	APN	15	99672017	missense	probably benign	0.43
IGL03231:Asic1	APN	15	99699102	missense	probably benign	0.42
R0111:Asic1	UTSW	15	99696983	missense	probably damaging	1.00
R0243:Asic1	UTSW	15	99698617	unclassified	probably benign
R0316:Asic1	UTSW	15	99671938	missense	probably benign	0.03
R0518:Asic1	UTSW	15	99698819	missense	probably damaging	1.00
R0520:Asic1	UTSW	15	99695535	missense	probably damaging	1.00
R0521:Asic1	UTSW	15	99698819	missense	probably damaging	1.00
R0610:Asic1	UTSW	15	99698899	missense	probably benign	0.14
R1034:Asic1	UTSW	15	99698058	missense	probably damaging	1.00
R1666:Asic1	UTSW	15	99699125	missense	probably damaging	1.00
R1796:Asic1	UTSW	15	99696654	missense	probably null	0.99
R1993:Asic1	UTSW	15	99671884	missense	probably damaging	1.00
R2130:Asic1	UTSW	15	99671875	missense	possibly damaging	0.73
R2180:Asic1	UTSW	15	99671965	missense	probably benign
R2895:Asic1	UTSW	15	99696602	missense	probably benign	0.22
R3793:Asic1	UTSW	15	99672025	nonsense	probably null
R3848:Asic1	UTSW	15	99672933	missense	probably benign	0.01
R5115:Asic1	UTSW	15	99672052	missense	probably damaging	0.97
R5186:Asic1	UTSW	15	99698803	unclassified	probably benign
R5187:Asic1	UTSW	15	99698803	unclassified	probably benign
R5409:Asic1	UTSW	15	99698803	unclassified	probably benign
R6011:Asic1	UTSW	15	99699079	missense	probably benign	0.05
R6383:Asic1	UTSW	15	99698880	missense	probably damaging	0.96
R7133:Asic1	UTSW	15	99672087	missense	probably damaging	1.00
R7255:Asic1	UTSW	15	99697457	missense	probably damaging	0.97
R7587:Asic1	UTSW	15	99695590	missense	probably damaging	1.00
R8012:Asic1	UTSW	15	99696651	missense	possibly damaging	0.92
R8030:Asic1	UTSW	15	99694841	missense	possibly damaging	0.56
R8089:Asic1	UTSW	15	99698087	missense	probably damaging	1.00
R8919:Asic1	UTSW	15	99671945	missense	probably benign	0.40
R9417:Asic1	UTSW	15	99692524	missense	probably benign
R9534:Asic1	UTSW	15	99696516	missense	probably benign	0.01
R9646:Asic1	UTSW	15	99695533	missense	probably benign	0.17
R9717:Asic1	UTSW	15	99692776	missense	probably damaging	1.00

Posted On

2015-04-16