Incidental Mutation 'IGL03231:Asic1'
ID413911
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 #IGL03231
Quality Score
Status
Chromosome15
Chromosomal Location99670368-99701130 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 99699102 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 548 (H548Q)
Ref Sequence ENSEMBL: ENSMUSP00000154379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023758] [ENSMUST00000023759] [ENSMUST00000163472] [ENSMUST00000228185] [ENSMUST00000228984] [ENSMUST00000229236] [ENSMUST00000229845] [ENSMUST00000230530]
Predicted Effect probably benign
Transcript: ENSMUST00000023758
AA Change: H515Q

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000023758
Gene: ENSMUSG00000023017
AA Change: H515Q

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: ENSMUST00000228185
AA Change: H548Q

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228610
Predicted Effect probably benign
Transcript: ENSMUST00000228984
Predicted Effect probably benign
Transcript: ENSMUST00000229236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229686
Predicted Effect probably benign
Transcript: ENSMUST00000229845
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229968
Predicted Effect probably benign
Transcript: ENSMUST00000230530
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik A G 11: 78,268,702 T526A probably benign Het
9530053A07Rik A G 7: 28,153,722 E1478G possibly damaging Het
Abca9 A C 11: 110,155,268 F277V probably damaging Het
Arel1 T A 12: 84,934,310 T308S probably benign Het
B3galt1 T C 2: 68,118,603 Y221H probably damaging Het
Brs3 G T X: 57,045,444 C221F probably benign Het
C77080 C T 4: 129,223,681 V385I possibly damaging Het
Capn7 G A 14: 31,355,290 G322R probably damaging Het
Ccdc138 T C 10: 58,573,706 L619P probably damaging Het
Cdh22 C T 2: 165,116,206 V614I probably benign Het
Dnah5 C T 15: 28,311,148 R1758W probably damaging Het
Dr1 T C 5: 108,275,608 V87A probably benign Het
F830045P16Rik A G 2: 129,460,473 S400P probably damaging Het
Fyb2 T A 4: 104,986,263 Y353* probably null Het
Gm28043 A G 17: 29,635,942 D457G probably damaging Het
Gsap T C 5: 21,229,166 V260A probably damaging Het
Kcnt2 A T 1: 140,534,002 probably benign Het
Magee2 A T X: 104,856,338 L236M probably damaging Het
Map4k3 A T 17: 80,597,675 V729E probably damaging Het
Myh13 A G 11: 67,351,991 E910G possibly damaging Het
Nbeal1 G T 1: 60,236,459 A651S probably benign Het
Nuak2 A T 1: 132,328,177 D188V probably damaging Het
Nup210l A G 3: 90,189,545 T1354A probably damaging Het
Olfr1494 A T 19: 13,749,385 Q93L probably benign Het
Pof1b C T X: 112,645,290 S506N possibly damaging Het
Prrt3 A G 6: 113,497,524 S246P possibly damaging Het
Rps6ka6 T A X: 111,450,321 T43S probably benign Het
Slc19a2 G T 1: 164,260,880 W98L probably damaging Het
Snap29 C T 16: 17,427,100 S195L probably benign Het
Stt3b C T 9: 115,243,994 G815S unknown Het
Tm9sf2 T G 14: 122,141,252 I256R possibly damaging Het
Tpbpb A T 13: 60,902,182 N44K probably damaging Het
Trim13 A G 14: 61,605,545 E337G probably benign Het
Trmt6 A T 2: 132,815,836 D33E probably benign Het
Trpm6 T A 19: 18,819,181 S800R probably benign Het
V1rd19 A G 7: 24,003,903 I265V probably benign Het
Xkrx A G X: 134,150,642 L420P probably damaging Het
Zfp618 T C 4: 63,094,479 Y167H probably damaging 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
IGL02097:Asic1 APN 15 99694686 splice site probably benign
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
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 On2016-08-02