Incidental Mutation 'R5409:Asic1'
ID 426467
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 042978-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R5409 (G1)
Quality Score 217
Status Not validated
Chromosome 15
Chromosomal Location 99568249-99599011 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) GCACC to GCACCACC at 99596684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023758] [ENSMUST00000023759] [ENSMUST00000163472] [ENSMUST00000229845] [ENSMUST00000228984] [ENSMUST00000229236] [ENSMUST00000228185] [ENSMUST00000230530]
AlphaFold Q6NXK8
Predicted Effect probably benign
Transcript: ENSMUST00000023758
SMART Domains Protein: ENSMUSP00000023758
Gene: ENSMUSG00000023017

DomainStartEndE-ValueType
Pfam:ASC 21 454 9.9e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000023759
SMART Domains Protein: ENSMUSP00000023759
Gene: ENSMUSG00000023018

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000229845
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229686
Predicted Effect probably benign
Transcript: ENSMUST00000228984
Predicted Effect probably benign
Transcript: ENSMUST00000229236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228610
Predicted Effect probably benign
Transcript: ENSMUST00000228185
Predicted Effect probably benign
Transcript: ENSMUST00000230530
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,850,154 (GRCm39) L2002P probably damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Adgrl1 A G 8: 84,656,371 (GRCm39) T230A probably damaging Het
Anapc4 A G 5: 53,005,941 (GRCm39) E316G probably damaging Het
Aurka T G 2: 172,209,036 (GRCm39) Q33P possibly damaging Het
Ccn5 G A 2: 163,667,158 (GRCm39) C53Y probably damaging Het
Cenpm T C 15: 82,118,564 (GRCm39) T153A probably benign Het
Clca4b T A 3: 144,622,452 (GRCm39) K538* probably null Het
Clip2 G A 5: 134,551,645 (GRCm39) T159M possibly damaging Het
Col5a1 C T 2: 27,850,457 (GRCm39) T518I unknown Het
Dis3 A T 14: 99,323,368 (GRCm39) M566K possibly damaging Het
Dnah1 C T 14: 30,985,212 (GRCm39) R3869H probably damaging Het
Gm4775 A T 14: 106,338,386 (GRCm39) noncoding transcript Het
Hipk2 C T 6: 38,706,977 (GRCm39) G637D probably damaging Het
Igkv4-61 T C 6: 69,394,111 (GRCm39) K18E possibly damaging Het
Kcnk4 A G 19: 6,903,578 (GRCm39) S324P probably benign Het
Larp4 T C 15: 99,883,945 (GRCm39) C61R probably damaging Het
Nid2 T C 14: 19,856,030 (GRCm39) F986L probably damaging Het
Or5ac16 A G 16: 59,021,920 (GRCm39) Y290H probably damaging Het
Or5aq1b T C 2: 86,902,214 (GRCm39) E88G possibly damaging Het
Or5h22 C T 16: 58,894,559 (GRCm39) V295I possibly damaging Het
Pgbd5 T A 8: 125,098,619 (GRCm39) I359F probably damaging Het
Plekhh2 T C 17: 84,893,906 (GRCm39) probably null Het
Pomgnt2 A T 9: 121,811,303 (GRCm39) S493T possibly damaging Het
Rnf7l A T 10: 63,257,403 (GRCm39) M39K possibly damaging Het
Rp1l1 T C 14: 64,268,070 (GRCm39) S1219P probably benign Het
Rprd1b T A 2: 157,916,987 (GRCm39) F322L probably damaging Het
Sh3rf1 G A 8: 61,827,279 (GRCm39) V678M probably benign Het
Smpd5 C A 15: 76,179,914 (GRCm39) T321K probably damaging Het
Spag8 T A 4: 43,653,134 (GRCm39) probably benign Het
Tanc2 T C 11: 105,758,311 (GRCm39) C691R possibly damaging Het
Tnc A C 4: 63,884,773 (GRCm39) M1834R probably damaging Het
Tnc A T 4: 63,925,654 (GRCm39) Y961N probably damaging Het
Ttn T C 2: 76,700,893 (GRCm39) probably benign Het
Ufl1 A G 4: 25,280,706 (GRCm39) V47A probably damaging Het
Unc13c T A 9: 73,485,672 (GRCm39) D1676V possibly damaging Het
Vmn1r65 T C 7: 6,012,012 (GRCm39) N74S possibly damaging Het
Vmn2r30 A G 7: 7,315,547 (GRCm39) F762S probably damaging Het
Other mutations in Asic1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R0521:Asic1 UTSW 15 99,596,700 (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
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'- TGAGTCCACTAACCTCTCCG -3'
(R):5'- GCTCTCGCAGGGATTCTAAGAG -3'

Sequencing Primer
(F):5'- CCCCACAGGTGACATCGG -3'
(R):5'- CTCGCAGGGATTCTAAGAGAAGGAC -3'
Posted On 2016-09-01