Incidental Mutation 'R0499:Far1'
ID 47019
Institutional Source Beutler Lab
Gene Symbol Far1
Ensembl Gene ENSMUSG00000030759
Gene Name fatty acyl CoA reductase 1
Synonyms Mlstd2, 2600011M19Rik, 2900034E22Rik, 3732409C05Rik
MMRRC Submission 038695-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.754) question?
Stock # R0499 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 113113041-113170718 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to T at 113153503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033018] [ENSMUST00000067929] [ENSMUST00000136158] [ENSMUST00000164745]
AlphaFold Q922J9
Predicted Effect probably benign
Transcript: ENSMUST00000033018
SMART Domains Protein: ENSMUSP00000033018
Gene: ENSMUSG00000030759

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
SMART Domains Protein: ENSMUSP00000064334
Gene: ENSMUSG00000030759

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: 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
SMART Domains Protein: ENSMUSP00000128695
Gene: ENSMUSG00000030759

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 99% (97/98)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,139,564 (GRCm39) V388A probably damaging Het
Acp3 T C 9: 104,197,201 (GRCm39) E146G probably damaging Het
Adap2 A T 11: 80,066,905 (GRCm39) R276S probably damaging Het
Agbl3 A T 6: 34,816,270 (GRCm39) M727L probably benign Het
Ahnak T A 19: 8,977,628 (GRCm39) probably benign Het
Ankmy1 G T 1: 92,813,948 (GRCm39) D410E probably damaging Het
Ankra2 T C 13: 98,402,962 (GRCm39) S70P probably damaging Het
Aox4 T C 1: 58,302,556 (GRCm39) probably null Het
Arl13b G A 16: 62,622,096 (GRCm39) T399I probably benign Het
Atad2 A T 15: 57,966,636 (GRCm39) D652E possibly damaging Het
Atad2 T G 15: 57,984,345 (GRCm39) M328L probably benign Het
Ccnb1 T C 13: 100,916,642 (GRCm39) probably null Het
Ccr2 G C 9: 123,905,976 (GRCm39) K85N possibly damaging Het
Ccr2 A T 9: 123,906,163 (GRCm39) T148S possibly damaging Het
Cdc20b T C 13: 113,192,484 (GRCm39) V59A probably benign Het
Cdin1 C T 2: 115,473,172 (GRCm39) R101W probably damaging Het
Cdkl3 T C 11: 51,923,243 (GRCm39) S507P possibly damaging Het
Celf6 C A 9: 59,510,161 (GRCm39) T86K probably benign Het
Ces1g A G 8: 94,060,317 (GRCm39) F101L probably benign Het
Cimap1d T C 10: 79,476,099 (GRCm39) D155G probably damaging Het
Cntnap3 C T 13: 65,006,492 (GRCm39) D107N probably benign Het
Col15a1 A T 4: 47,262,950 (GRCm39) D534V probably damaging Het
Col27a1 A G 4: 63,218,978 (GRCm39) probably benign Het
Csmd3 T C 15: 47,710,527 (GRCm39) T1687A probably benign Het
Cstf3 A G 2: 104,479,950 (GRCm39) I272M possibly damaging Het
Cyp2d40 T C 15: 82,645,418 (GRCm39) T150A probably benign Het
Dnah8 T A 17: 30,934,483 (GRCm39) F1489L possibly damaging Het
Dop1b A T 16: 93,567,325 (GRCm39) T1251S probably benign Het
Dtx2 G A 5: 136,057,957 (GRCm39) G421R probably damaging Het
Epb41l3 T A 17: 69,554,654 (GRCm39) D251E probably benign Het
Erg A C 16: 95,161,842 (GRCm39) Y305* probably null Het
Exosc4 G A 15: 76,213,766 (GRCm39) A197T probably benign Het
Fam227b T A 2: 125,942,829 (GRCm39) I323L probably benign Het
Fmod A G 1: 133,968,934 (GRCm39) I325V possibly damaging Het
Fshr C G 17: 89,316,713 (GRCm39) S169T probably benign Het
Gm4076 G T 13: 85,275,345 (GRCm39) noncoding transcript Het
Gm5134 A T 10: 75,828,359 (GRCm39) Y313F probably benign Het
H2-Q6 T A 17: 35,644,179 (GRCm39) F54I probably damaging Het
Hcrtr2 C A 9: 76,161,954 (GRCm39) L145F probably damaging Het
Hepacam2 A G 6: 3,476,121 (GRCm39) L268P probably damaging Het
Herc2 C A 7: 55,834,117 (GRCm39) C3107* probably null Het
Herc4 T C 10: 63,099,811 (GRCm39) V78A probably damaging Het
Hyal5 T C 6: 24,877,920 (GRCm39) W339R probably damaging Het
Igfbp6 T A 15: 102,056,419 (GRCm39) probably null Het
Il18rap A T 1: 40,564,218 (GRCm39) H112L probably benign Het
Il1r2 T A 1: 40,162,309 (GRCm39) Y317* probably null Het
Ints8 C A 4: 11,246,097 (GRCm39) V190L probably benign Het
Ipo11 T C 13: 107,061,595 (GRCm39) T22A probably benign Het
Itgb4 C A 11: 115,870,521 (GRCm39) R117S probably benign Het
Lcorl C G 5: 45,891,711 (GRCm39) G214A probably benign Het
Lgals3bp T A 11: 118,289,019 (GRCm39) probably null Het
Lyst T A 13: 13,791,298 (GRCm39) L54I probably damaging Het
Mcm9 T C 10: 53,414,250 (GRCm39) T1015A probably benign Het
Mef2d T A 3: 88,063,825 (GRCm39) I84N probably damaging Het
Mmrn2 A G 14: 34,119,913 (GRCm39) N261S probably damaging Het
Mpdz T C 4: 81,210,768 (GRCm39) T1693A probably benign Het
Mss51 T A 14: 20,534,756 (GRCm39) Q338L possibly damaging Het
Mstn T A 1: 53,103,143 (GRCm39) Y160N probably damaging Het
Muc6 T C 7: 141,226,735 (GRCm39) T1431A probably benign Het
Nek9 A T 12: 85,348,657 (GRCm39) M959K probably benign Het
Or2ak6 G A 11: 58,593,069 (GRCm39) V181I probably benign Het
Or4f58 A T 2: 111,851,777 (GRCm39) C141S probably damaging Het
Or8b47 A T 9: 38,435,801 (GRCm39) M258L probably benign Het
Otog G T 7: 45,923,256 (GRCm39) G1044W probably damaging Het
Pcdh9 G A 14: 94,123,671 (GRCm39) T833M probably damaging Het
Pdcd10 T C 3: 75,434,958 (GRCm39) K111R probably damaging Het
Pde5a A G 3: 122,542,107 (GRCm39) N199S probably damaging Het
Plekhg1 T C 10: 3,887,971 (GRCm39) V355A probably damaging Het
Podn G T 4: 107,878,791 (GRCm39) L359I probably damaging Het
Psd T C 19: 46,310,600 (GRCm39) E483G probably damaging Het
Ptch2 T A 4: 116,968,340 (GRCm39) L905* probably null Het
Rxfp2 T A 5: 149,989,880 (GRCm39) N420K probably damaging Het
Scpppq1 C A 5: 104,222,747 (GRCm39) G24* probably null Het
Sde2 T A 1: 180,689,992 (GRCm39) D237E probably benign Het
Serpina1d A T 12: 103,732,016 (GRCm39) L281Q probably damaging Het
Serpina9 T C 12: 103,967,729 (GRCm39) N222S probably benign Het
Sh3bgrl2 A G 9: 83,459,612 (GRCm39) K57E probably damaging Het
Shc3 C T 13: 51,634,264 (GRCm39) probably benign Het
Sik3 T C 9: 46,120,038 (GRCm39) M659T possibly damaging Het
Slc23a2 A G 2: 131,913,937 (GRCm39) L280P probably damaging Het
Smchd1 G T 17: 71,694,083 (GRCm39) Q1221K probably benign Het
Spmip2 T A 3: 79,313,093 (GRCm39) W56R probably damaging Het
Spocd1 A G 4: 129,849,263 (GRCm39) N694S possibly damaging Het
Styxl2 C A 1: 165,926,670 (GRCm39) V981L probably benign Het
Tecta T C 9: 42,263,359 (GRCm39) D1409G probably damaging Het
Tmem131 A T 1: 36,880,754 (GRCm39) V172D probably damaging Het
Trpm3 T C 19: 22,964,237 (GRCm39) M1244T possibly damaging Het
Ugcg G C 4: 59,217,036 (GRCm39) V187L possibly damaging Het
Usp17le T C 7: 104,417,708 (GRCm39) N478S probably benign Het
Usp36 A G 11: 118,164,397 (GRCm39) V205A probably damaging Het
Vmn1r25 T A 6: 57,955,494 (GRCm39) Q265L probably damaging Het
Vwf A T 6: 125,615,077 (GRCm39) H1176L probably benign Het
Zfyve28 C T 5: 34,389,550 (GRCm39) D217N possibly damaging Het
Zranb3 A C 1: 127,882,817 (GRCm39) probably null Het
Other mutations in Far1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Far1 APN 7 113,139,896 (GRCm39) missense probably benign 0.07
IGL02597:Far1 APN 7 113,150,463 (GRCm39) missense probably benign 0.31
IGL02937:Far1 APN 7 113,139,855 (GRCm39) missense probably damaging 0.98
R2045:Far1 UTSW 7 113,138,478 (GRCm39) critical splice acceptor site probably null
R2140:Far1 UTSW 7 113,165,667 (GRCm39) missense possibly damaging 0.89
R2852:Far1 UTSW 7 113,152,944 (GRCm39) missense possibly damaging 0.95
R2853:Far1 UTSW 7 113,152,944 (GRCm39) missense possibly damaging 0.95
R4423:Far1 UTSW 7 113,139,805 (GRCm39) missense probably damaging 1.00
R4426:Far1 UTSW 7 113,149,208 (GRCm39) missense probably benign 0.08
R4801:Far1 UTSW 7 113,138,660 (GRCm39) missense possibly damaging 0.77
R4802:Far1 UTSW 7 113,138,660 (GRCm39) missense possibly damaging 0.77
R4898:Far1 UTSW 7 113,167,432 (GRCm39) missense probably damaging 1.00
R5762:Far1 UTSW 7 113,167,396 (GRCm39) missense probably damaging 0.98
R6151:Far1 UTSW 7 113,160,603 (GRCm39) missense possibly damaging 0.60
R6165:Far1 UTSW 7 113,153,425 (GRCm39) missense probably benign
R6278:Far1 UTSW 7 113,167,344 (GRCm39) missense probably benign 0.00
R7269:Far1 UTSW 7 113,160,654 (GRCm39) missense probably benign 0.00
R7356:Far1 UTSW 7 113,167,349 (GRCm39) missense possibly damaging 0.94
R7853:Far1 UTSW 7 113,153,355 (GRCm39) missense probably damaging 1.00
R9028:Far1 UTSW 7 113,146,629 (GRCm39) missense probably damaging 0.99
R9519:Far1 UTSW 7 113,150,559 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGCCTTTTGTGAATGAGAAGACTGTTG -3'
(R):5'- ACCCCTAGATTATTAAGGGAGAGAGGGA -3'

Sequencing Primer
(F):5'- GACTGTTGAAAAAGACATTGTCAG -3'
(R):5'- agaatcaatgacccaatatgatgag -3'
Posted On 2013-06-12