Incidental Mutation 'IGL00679:Faah'
ID12610
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Faah
Ensembl Gene ENSMUSG00000034171
Gene Namefatty acid amide hydrolase
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL00679
Quality Score
Status
Chromosome4
Chromosomal Location115967145-116017926 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 116008283 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 69 (L69Q)
Ref Sequence ENSEMBL: ENSMUSP00000041543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049095]
Predicted Effect possibly damaging
Transcript: ENSMUST00000049095
AA Change: L69Q

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000041543
Gene: ENSMUSG00000034171
AA Change: L69Q

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 74 87 N/A INTRINSIC
Pfam:Amidase 95 562 1.4e-122 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143724
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154249
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 protein that is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show high brain anandamide (AEA) levels, reduced pain sensation, altered behavioral responses to AEA, and sex-specific changes in ethanol intake and sensitivity. Homozygotes for the C385A variant show enhanced cued fear extinction and reduced anxiety-like behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013F07Rik A G 3: 108,537,635 E6G possibly damaging Het
Arhgap5 C A 12: 52,517,281 A345D probably damaging Het
Ccdc73 C T 2: 104,994,591 P990S probably damaging Het
Cep112 A G 11: 108,591,053 K692R probably damaging Het
Cep57l1 A T 10: 41,719,800 C319* probably null Het
Cntnap5c A G 17: 58,055,678 D342G probably damaging Het
Exoc1 A T 5: 76,567,023 H742L possibly damaging Het
Fbxw21 G A 9: 109,161,964 P9L probably damaging Het
Irak4 T A 15: 94,556,628 M218K probably benign Het
Kdm2a A T 19: 4,326,841 C235S probably damaging Het
Rab4a A G 8: 123,827,414 D29G probably damaging Het
Slc22a8 A G 19: 8,604,855 I133M possibly damaging Het
Wipi2 A G 5: 142,659,149 D170G probably damaging Het
Other mutations in Faah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03355:Faah APN 4 116002528 missense probably benign 0.28
R0013:Faah UTSW 4 116004391 missense probably damaging 1.00
R0387:Faah UTSW 4 116005692 nonsense probably null
R0727:Faah UTSW 4 116005060 missense probably damaging 1.00
R1405:Faah UTSW 4 116001148 missense probably damaging 1.00
R1405:Faah UTSW 4 116001148 missense probably damaging 1.00
R1465:Faah UTSW 4 115999558 missense probably damaging 1.00
R1465:Faah UTSW 4 115999558 missense probably damaging 1.00
R1861:Faah UTSW 4 116008235 missense probably benign 0.45
R2062:Faah UTSW 4 115998573 missense probably damaging 1.00
R4926:Faah UTSW 4 115999626 intron probably benign
R5162:Faah UTSW 4 116000741 intron probably benign
R5425:Faah UTSW 4 116000796 missense probably null 0.47
R5449:Faah UTSW 4 115999495 splice site probably null
R6236:Faah UTSW 4 115999589 missense probably benign 0.03
R6370:Faah UTSW 4 116003056 missense probably damaging 1.00
R6569:Faah UTSW 4 116017632 missense probably benign
R7384:Faah UTSW 4 116005167 missense probably damaging 1.00
X0024:Faah UTSW 4 116002979 missense possibly damaging 0.77
Posted On2012-12-06