Incidental Mutation 'IGL02597:Far1'
ID299902
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Far1
Ensembl Gene ENSMUSG00000030759
Gene Namefatty acyl CoA reductase 1
SynonymsMlstd2, 3732409C05Rik, 2600011M19Rik, 2900034E22Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.787) question?
Stock #IGL02597
Quality Score
Status
Chromosome7
Chromosomal Location113513834-113571511 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 113551256 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 264 (T264S)
Ref Sequence ENSEMBL: ENSMUSP00000128695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033018] [ENSMUST00000067929] [ENSMUST00000129087] [ENSMUST00000136158] [ENSMUST00000164745]
Predicted Effect probably benign
Transcript: ENSMUST00000033018
AA Change: T264S

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000033018
Gene: ENSMUSG00000030759
AA Change: T264S

DomainStartEndE-ValueType
Pfam:Epimerase 13 177 1e-8 PFAM
Pfam:NAD_binding_4 15 285 3.2e-80 PFAM
Pfam:Sterile 356 448 3.1e-34 PFAM
transmembrane domain 466 483 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000067929
AA Change: T264S

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000064334
Gene: ENSMUSG00000030759
AA Change: T264S

DomainStartEndE-ValueType
Pfam:Epimerase 13 177 1e-8 PFAM
Pfam:NAD_binding_4 15 285 3.2e-80 PFAM
Pfam:Sterile 356 448 5.4e-36 PFAM
transmembrane domain 466 483 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123845
Predicted Effect probably benign
Transcript: ENSMUST00000129087
SMART Domains Protein: ENSMUSP00000117131
Gene: ENSMUSG00000030759

DomainStartEndE-ValueType
Pfam:Polysacc_synt_2 13 159 1.5e-7 PFAM
Pfam:Epimerase 13 174 8.5e-10 PFAM
Pfam:NAD_binding_4 15 180 9.7e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136158
SMART Domains Protein: ENSMUSP00000122643
Gene: ENSMUSG00000030759

DomainStartEndE-ValueType
Pfam:Polysacc_synt_2 13 159 2.3e-7 PFAM
Pfam:Epimerase 13 174 1.3e-9 PFAM
Pfam:NAD_binding_4 15 207 7.6e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156875
Predicted Effect probably benign
Transcript: ENSMUST00000164745
AA Change: T264S

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000128695
Gene: ENSMUSG00000030759
AA Change: T264S

DomainStartEndE-ValueType
Pfam:Epimerase 13 241 1.5e-10 PFAM
Pfam:NAD_binding_4 15 285 9.9e-78 PFAM
Pfam:Sterile 355 448 5.8e-26 PFAM
transmembrane domain 466 483 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.] The protein encoded by this gene is required for the reduction of fatty acids to fatty alcohols, a process that is required for the synthesis of monoesters and ether lipids. NADPH is required as a cofactor in this reaction, and 16-18 carbon saturated and unsaturated fatty acids are the preferred substrate. This is a peroxisomal membrane protein, and studies suggest that the N-terminus contains a large catalytic domain located on the outside of the peroxisome, while the C-terminus is exposed to the matrix of the peroxisome. Studies indicate that the regulation of this protein is dependent on plasmalogen levels. Mutations in this gene have been associated with individuals affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity (PMID: 25439727). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 T C 2: 128,623,931 K1648E probably benign Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
Atp7a A T X: 106,069,888 N34I probably benign Het
Btbd11 A G 10: 85,633,801 Y862C probably damaging Het
Casq2 A G 3: 102,126,637 Y232C probably damaging Het
Cdan1 A T 2: 120,725,239 N738K probably benign Het
Cdh24 A G 14: 54,633,515 V132A possibly damaging Het
Chd5 C A 4: 152,371,712 T946K probably damaging Het
Clip4 T C 17: 71,849,970 probably benign Het
Copz2 T C 11: 96,857,599 probably benign Het
Cyp2c39 C A 19: 39,560,887 S283* probably null Het
Dlec1 A T 9: 119,134,536 S973C probably damaging Het
Iqgap1 A G 7: 80,723,885 L1452P probably damaging Het
Irx5 A C 8: 92,360,772 N444T possibly damaging Het
Kcnip2 A G 19: 45,796,273 probably benign Het
Kmt2d A T 15: 98,863,831 M546K unknown Het
Lrrc37a A G 11: 103,504,287 L104S probably benign Het
Med12 T C X: 101,284,932 L1143P probably damaging Het
Mettl11b A G 1: 163,717,087 V109A probably benign Het
Mtcl1 T C 17: 66,338,021 H1477R probably benign Het
Nkap T A X: 37,147,784 probably benign Het
Olfr714 A T 7: 107,074,439 T204S possibly damaging Het
Osbpl6 C T 2: 76,555,974 Q214* probably null Het
Pex1 C T 5: 3,635,865 T1202I possibly damaging Het
Prrc2b A T 2: 32,219,613 N1066I probably damaging Het
Psmg1 T C 16: 95,987,297 E152G probably damaging Het
Scn10a A G 9: 119,610,123 I1560T probably damaging Het
Shd A G 17: 55,973,987 E221G possibly damaging Het
Slc39a4 T C 15: 76,613,624 T478A probably benign Het
Snx2 A G 18: 53,210,372 I281V probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tmem161a A T 8: 70,182,043 R297S probably damaging Het
Tns1 A G 1: 73,985,873 probably null Het
Ugt2b36 G A 5: 87,080,924 T420M probably damaging Het
Wdfy4 G A 14: 33,090,861 R1652* probably null Het
Zap70 T A 1: 36,771,920 Y178* probably null Het
Zdhhc3 A G 9: 123,100,391 F60L probably damaging Het
Other mutations in Far1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Far1 APN 7 113540689 missense probably benign 0.07
IGL02937:Far1 APN 7 113540648 missense probably damaging 0.98
R0499:Far1 UTSW 7 113554296 intron probably benign
R2045:Far1 UTSW 7 113539271 critical splice acceptor site probably null
R2140:Far1 UTSW 7 113566460 missense possibly damaging 0.89
R2852:Far1 UTSW 7 113553737 missense possibly damaging 0.95
R2853:Far1 UTSW 7 113553737 missense possibly damaging 0.95
R4423:Far1 UTSW 7 113540598 missense probably damaging 1.00
R4426:Far1 UTSW 7 113550001 missense probably benign 0.08
R4801:Far1 UTSW 7 113539453 missense possibly damaging 0.77
R4802:Far1 UTSW 7 113539453 missense possibly damaging 0.77
R4898:Far1 UTSW 7 113568225 missense probably damaging 1.00
R5762:Far1 UTSW 7 113568189 missense probably damaging 0.98
R6151:Far1 UTSW 7 113561396 missense possibly damaging 0.60
R6165:Far1 UTSW 7 113554218 missense probably benign
R6278:Far1 UTSW 7 113568137 missense probably benign 0.00
R7269:Far1 UTSW 7 113561447 missense probably benign 0.00
R7356:Far1 UTSW 7 113568142 missense possibly damaging 0.94
R7853:Far1 UTSW 7 113554148 missense probably damaging 1.00
Posted On2015-04-16