Incidental Mutation 'IGL01470:Asic4'
ID88257
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asic4
Ensembl Gene ENSMUSG00000033007
Gene Nameacid-sensing (proton-gated) ion channel family member 4
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01470
Quality Score
Status
Chromosome1
Chromosomal Location75450436-75474343 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 75450866 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 12 (A12V)
Ref Sequence ENSEMBL: ENSMUSP00000045598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037708] [ENSMUST00000113577]
Predicted Effect probably damaging
Transcript: ENSMUST00000037708
AA Change: A12V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045598
Gene: ENSMUSG00000033007
AA Change: A12V

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 probably damaging
Transcript: ENSMUST00000113577
AA Change: A12V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109207
Gene: ENSMUSG00000033007
AA Change: A12V

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,660,457 T1184A possibly damaging Het
A2ml1 A G 6: 128,580,412 I106T probably damaging Het
Cacna1d A T 14: 30,099,142 V1139D probably damaging Het
Edc4 T C 8: 105,889,981 probably benign Het
Eif4h A T 5: 134,625,539 probably null Het
Exog C A 9: 119,462,526 Q290K probably damaging Het
Fam83c A T 2: 155,834,808 I14K possibly damaging Het
Fes A T 7: 80,383,273 Y268N probably benign Het
Fhod1 A G 8: 105,329,649 L1144P probably damaging Het
Frem3 C T 8: 80,614,315 T1079I probably damaging Het
Gbp10 A G 5: 105,221,114 probably benign Het
Herc1 T C 9: 66,497,636 V4496A possibly damaging Het
Lamb1 A G 12: 31,300,262 R729G possibly damaging Het
Lifr T A 15: 7,175,666 C461* probably null Het
Lypd6 T C 2: 50,188,783 V97A probably benign Het
Map3k5 A G 10: 20,118,187 E973G possibly damaging Het
Mep1b A T 18: 21,097,467 N692I probably benign Het
Mrpl15 A G 1: 4,776,531 V274A probably damaging Het
Naaa A G 5: 92,263,648 I264T probably damaging Het
Nlrp4c T C 7: 6,100,784 C906R possibly damaging Het
Olfr1047 T C 2: 86,228,284 N229S probably benign Het
Olfr1265 T C 2: 90,037,818 W300R possibly damaging Het
Olfr1443 T C 19: 12,680,671 S188P possibly damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr885 A T 9: 38,062,004 H228L possibly damaging Het
Phc2 C T 4: 128,723,110 T392I probably benign Het
Ptprg G A 14: 12,213,702 W248* probably null Het
Pzp T A 6: 128,521,124 E243D probably benign Het
Rbm33 T A 5: 28,387,848 L542Q probably damaging Het
Recql4 G A 15: 76,708,944 T229I probably benign Het
Ssbp3 T C 4: 107,037,658 probably benign Het
Tfap2d A T 1: 19,148,396 Q373L probably damaging Het
Timmdc1 A G 16: 38,518,540 probably benign Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Vps13c T C 9: 67,912,927 probably benign Het
Zfp551 A G 7: 12,418,541 probably null Het
Other mutations in Asic4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Asic4 APN 1 75469146 missense possibly damaging 0.94
IGL02645:Asic4 APN 1 75473354 unclassified probably benign
IGL03002:Asic4 APN 1 75451323 missense possibly damaging 0.61
positron UTSW 1 75473043 nonsense probably null
PIT4445001:Asic4 UTSW 1 75451127 missense probably benign 0.03
R0106:Asic4 UTSW 1 75451127 missense probably benign 0.03
R0138:Asic4 UTSW 1 75469687 missense possibly damaging 0.87
R0453:Asic4 UTSW 1 75473511 unclassified probably benign
R0573:Asic4 UTSW 1 75469102 splice site probably benign
R0705:Asic4 UTSW 1 75451370 missense probably damaging 1.00
R1892:Asic4 UTSW 1 75469482 missense probably damaging 1.00
R1912:Asic4 UTSW 1 75469232 missense possibly damaging 0.93
R3614:Asic4 UTSW 1 75473058 missense probably damaging 1.00
R3790:Asic4 UTSW 1 75469841 unclassified probably benign
R3923:Asic4 UTSW 1 75451227 missense probably damaging 1.00
R4447:Asic4 UTSW 1 75470370 unclassified probably benign
R5177:Asic4 UTSW 1 75450839 missense probably damaging 1.00
R5208:Asic4 UTSW 1 75451226 missense probably damaging 1.00
R5266:Asic4 UTSW 1 75450923 missense probably benign 0.03
R5436:Asic4 UTSW 1 75451319 missense probably benign 0.09
R5921:Asic4 UTSW 1 75451373 missense probably benign 0.30
R6086:Asic4 UTSW 1 75473243 missense possibly damaging 0.64
R6512:Asic4 UTSW 1 75473043 nonsense probably null
R6530:Asic4 UTSW 1 75472335 missense probably damaging 0.98
R7545:Asic4 UTSW 1 75472416 missense probably damaging 0.98
Z1177:Asic4 UTSW 1 75469220 missense probably benign 0.02
Posted On2013-11-18