Incidental Mutation 'IGL03002:Asic4'
ID 407394
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 # IGL03002
Quality Score
Status
Chromosome 1
Chromosomal Location 75427080-75450987 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75427967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 164 (D164E)
Ref Sequence ENSEMBL: ENSMUSP00000109207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037708] [ENSMUST00000113577]
AlphaFold Q7TNS7
Predicted Effect possibly damaging
Transcript: ENSMUST00000037708
AA Change: D164E

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000045598
Gene: ENSMUSG00000033007
AA Change: D164E

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: D164E

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109207
Gene: ENSMUSG00000033007
AA Change: D164E

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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl T C 1: 66,876,128 (GRCm39) I398V probably benign Het
Adcy4 A T 14: 56,011,013 (GRCm39) C635S probably benign Het
Aoc1l3 A G 6: 48,964,052 (GRCm39) H20R probably benign Het
C8g T A 2: 25,388,823 (GRCm39) *203L probably null Het
Cad T C 5: 31,212,330 (GRCm39) V11A probably benign Het
Cckar T C 5: 53,860,247 (GRCm39) N194S probably damaging Het
Cdc123 T C 2: 5,803,166 (GRCm39) probably benign Het
Chrm5 T C 2: 112,310,706 (GRCm39) T137A probably damaging Het
Cyp1a1 A G 9: 57,609,724 (GRCm39) probably benign Het
Dapk3 G T 10: 81,026,437 (GRCm39) E187* probably null Het
Dmtf1 T C 5: 9,190,474 (GRCm39) E80G probably damaging Het
Dusp19 T A 2: 80,461,279 (GRCm39) N189K probably damaging Het
Gfral A G 9: 76,104,520 (GRCm39) V164A possibly damaging Het
Hk1 A T 10: 62,107,578 (GRCm39) V799E probably damaging Het
Iars2 C T 1: 185,055,013 (GRCm39) probably null Het
Jcad T A 18: 4,675,153 (GRCm39) Y972N probably benign Het
Lrp1 A T 10: 127,425,505 (GRCm39) D708E probably damaging Het
Mbtd1 T A 11: 93,815,316 (GRCm39) H301Q probably benign Het
Med12 A G X: 100,339,461 (GRCm39) T2004A probably benign Het
Mib1 T C 18: 10,798,356 (GRCm39) I739T possibly damaging Het
Mthfsd C T 8: 121,835,018 (GRCm39) probably benign Het
Mybpc3 T G 2: 90,954,234 (GRCm39) F369C probably damaging Het
Nfatc2 C T 2: 168,376,904 (GRCm39) V329M probably damaging Het
Ngef A T 1: 87,437,114 (GRCm39) probably null Het
Nlrp1b T C 11: 71,059,685 (GRCm39) E759G probably benign Het
Or10aa3 C A 1: 173,878,191 (GRCm39) T84N probably benign Het
Prdm4 T C 10: 85,729,016 (GRCm39) E790G probably benign Het
Psmd12 A G 11: 107,376,607 (GRCm39) D81G probably benign Het
Rnf144b A G 13: 47,396,359 (GRCm39) H232R probably damaging Het
Sec63 C T 10: 42,686,905 (GRCm39) T475M possibly damaging Het
Slc16a4 A T 3: 107,208,102 (GRCm39) N204I probably benign Het
Socs1 T C 16: 10,602,404 (GRCm39) N111S probably damaging Het
Srpra A G 9: 35,126,017 (GRCm39) N432D probably damaging Het
Srrm2 A G 17: 24,034,708 (GRCm39) probably benign Het
Tgoln1 A G 6: 72,593,055 (GRCm39) S142P possibly damaging Het
Trbv13-1 A G 6: 41,093,169 (GRCm39) N34S probably benign Het
Vmn2r26 T C 6: 124,016,754 (GRCm39) V406A possibly damaging Het
Vsig1 G T X: 139,827,088 (GRCm39) G79V probably damaging Het
Other mutations in Asic4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Asic4 APN 1 75,445,790 (GRCm39) missense possibly damaging 0.94
IGL01470:Asic4 APN 1 75,427,510 (GRCm39) missense probably damaging 1.00
IGL02645:Asic4 APN 1 75,449,998 (GRCm39) unclassified probably benign
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 2016-08-02