Incidental Mutation 'IGL00679:Faah'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Faah
Ensembl Gene ENSMUSG00000034171
Gene Namefatty acid amide hydrolase
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL00679
Quality Score
Chromosomal Location115967145-116017926 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 116008283 bp
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

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