Incidental Mutation 'IGL02097:Asic1'
ID279654
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asic1
Ensembl Gene ENSMUSG00000023017
Gene Nameacid-sensing (proton-gated) ion channel 1
SynonymsASIC1a, ASICalpha, B530003N02Rik, ASIC, Accn2, BNaC2, ASIC1 beta
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.202) question?
Stock #IGL02097
Quality Score
Status
Chromosome15
Chromosomal Location99670368-99701130 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 99694686 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023758] [ENSMUST00000228185]
Predicted Effect probably benign
Transcript: ENSMUST00000023758
SMART Domains Protein: ENSMUSP00000023758
Gene: ENSMUSG00000023017

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
Posted On2015-04-16