Incidental Mutation 'IGL01399:Asic4'
ID 79585
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asic4
Ensembl Gene ENSMUSG00000033007
Gene Name acid-sensing ion channel family member 4
Synonyms Accn4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01399
Quality Score
Status
Chromosome 1
Chromosomal Location 75427080-75450987 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75445790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 206 (N206K)
Ref Sequence ENSEMBL: ENSMUSP00000045598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037708] [ENSMUST00000113577]
AlphaFold Q7TNS7
Predicted Effect possibly damaging
Transcript: ENSMUST00000037708
AA Change: N206K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000045598
Gene: ENSMUSG00000033007
AA Change: N206K

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
Pfam:ASC 45 464 5.3e-92 PFAM
low complexity region 507 533 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113577
AA Change: N206K

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109207
Gene: ENSMUSG00000033007
AA Change: N206K

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
Pfam:ASC 45 346 5.5e-94 PFAM
Pfam:ASC 344 446 1.4e-42 PFAM
low complexity region 488 514 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194916
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 belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous knockout increases the fear response in the predator-odor induced fear test and increases anxiety in open field and elevated plus maze tests. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Bsn A G 9: 107,984,386 (GRCm39) Y3223H unknown Het
Btaf1 C T 19: 36,977,570 (GRCm39) R1463* probably null Het
Ccdc146 A G 5: 21,499,611 (GRCm39) I857T possibly damaging Het
Ccnf G A 17: 24,443,986 (GRCm39) S594L probably damaging Het
Chd5 T C 4: 152,441,144 (GRCm39) W195R probably damaging Het
Cntn1 A G 15: 92,203,025 (GRCm39) Y769C probably damaging Het
Cwc22 T C 2: 77,747,408 (GRCm39) E435G probably benign Het
Dct A G 14: 118,273,890 (GRCm39) F339S probably damaging Het
Ddx54 G T 5: 120,761,968 (GRCm39) E554* probably null Het
Dock3 G T 9: 106,870,670 (GRCm39) S581R probably benign Het
Dst A G 1: 34,156,598 (GRCm39) H176R probably benign Het
Emc8 A G 8: 121,385,745 (GRCm39) M123T probably damaging Het
Evc T A 5: 37,490,357 (GRCm39) D55V probably damaging Het
Gm5424 A G 10: 61,907,272 (GRCm39) noncoding transcript Het
Gpr149 A T 3: 62,511,852 (GRCm39) L49Q probably damaging Het
Hcfc1 C T X: 72,993,515 (GRCm39) V1217I possibly damaging Het
Hoxa4 G T 6: 52,167,393 (GRCm39) Q263K probably damaging Het
Ift172 T C 5: 31,423,592 (GRCm39) E790G probably benign Het
Ipp A G 4: 116,372,384 (GRCm39) N138D probably damaging Het
Isg20 A T 7: 78,569,836 (GRCm39) T158S possibly damaging Het
Klf17 A G 4: 117,616,356 (GRCm39) F325S probably damaging Het
Lilrb4a T C 10: 51,370,161 (GRCm39) L233P probably benign Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Myh9 A T 15: 77,651,470 (GRCm39) L1544Q probably damaging Het
Nexmif T A X: 103,130,786 (GRCm39) D377V probably damaging Het
Nobox T C 6: 43,280,972 (GRCm39) T501A probably benign Het
Noc3l T C 19: 38,804,099 (GRCm39) D93G possibly damaging Het
Nrcam G T 12: 44,622,667 (GRCm39) A938S probably benign Het
Nup205 T C 6: 35,196,624 (GRCm39) I1120T possibly damaging Het
Or5b96 A T 19: 12,867,803 (GRCm39) M46K probably benign Het
Or5h18 C T 16: 58,847,629 (GRCm39) V214I probably benign Het
Ptpn3 T C 4: 57,225,775 (GRCm39) D480G probably benign Het
Selenof C T 3: 144,302,669 (GRCm39) T148I probably damaging Het
Sgce C A 6: 4,746,997 (GRCm39) G31V probably damaging Het
Slc35e1 C A 8: 73,238,534 (GRCm39) A325S probably damaging Het
Slc4a4 A G 5: 89,376,794 (GRCm39) D1016G probably damaging Het
Synj2 T G 17: 6,060,046 (GRCm39) C149W probably damaging Het
Tecpr1 A G 5: 144,145,411 (GRCm39) probably null Het
Utp20 A G 10: 88,594,164 (GRCm39) probably null Het
Vmn2r63 T A 7: 42,553,543 (GRCm39) K571M probably damaging Het
Wdr53 A G 16: 32,070,718 (GRCm39) D21G possibly damaging Het
Zbtb3 T C 19: 8,780,819 (GRCm39) L144S probably damaging Het
Zfp185 T A X: 72,043,654 (GRCm39) S154T probably damaging Het
Other mutations in Asic4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Asic4 APN 1 75,427,510 (GRCm39) missense probably damaging 1.00
IGL02645:Asic4 APN 1 75,449,998 (GRCm39) unclassified probably benign
IGL03002:Asic4 APN 1 75,427,967 (GRCm39) missense possibly damaging 0.61
positron UTSW 1 75,449,687 (GRCm39) nonsense probably null
PIT4445001:Asic4 UTSW 1 75,427,771 (GRCm39) missense probably benign 0.03
R0106:Asic4 UTSW 1 75,427,771 (GRCm39) missense probably benign 0.03
R0138:Asic4 UTSW 1 75,446,331 (GRCm39) missense possibly damaging 0.87
R0453:Asic4 UTSW 1 75,450,155 (GRCm39) unclassified probably benign
R0573:Asic4 UTSW 1 75,445,746 (GRCm39) splice site probably benign
R0705:Asic4 UTSW 1 75,428,014 (GRCm39) missense probably damaging 1.00
R1892:Asic4 UTSW 1 75,446,126 (GRCm39) missense probably damaging 1.00
R1912:Asic4 UTSW 1 75,445,876 (GRCm39) missense possibly damaging 0.93
R3614:Asic4 UTSW 1 75,449,702 (GRCm39) missense probably damaging 1.00
R3790:Asic4 UTSW 1 75,446,485 (GRCm39) unclassified probably benign
R3923:Asic4 UTSW 1 75,427,871 (GRCm39) missense probably damaging 1.00
R4447:Asic4 UTSW 1 75,447,014 (GRCm39) unclassified probably benign
R5177:Asic4 UTSW 1 75,427,483 (GRCm39) missense probably damaging 1.00
R5208:Asic4 UTSW 1 75,427,870 (GRCm39) missense probably damaging 1.00
R5266:Asic4 UTSW 1 75,427,567 (GRCm39) missense probably benign 0.03
R5436:Asic4 UTSW 1 75,427,963 (GRCm39) missense probably benign 0.09
R5921:Asic4 UTSW 1 75,428,017 (GRCm39) missense probably benign 0.30
R6086:Asic4 UTSW 1 75,449,887 (GRCm39) missense possibly damaging 0.64
R6512:Asic4 UTSW 1 75,449,687 (GRCm39) nonsense probably null
R6530:Asic4 UTSW 1 75,448,979 (GRCm39) missense probably damaging 0.98
R7545:Asic4 UTSW 1 75,449,060 (GRCm39) missense probably damaging 0.98
R9129:Asic4 UTSW 1 75,446,469 (GRCm39) missense possibly damaging 0.77
R9322:Asic4 UTSW 1 75,446,462 (GRCm39) missense probably benign 0.38
Z1177:Asic4 UTSW 1 75,445,864 (GRCm39) missense probably benign 0.02
Posted On 2013-11-05