Mutagenetix > Incidental Mutations

Incidental Mutation 'R0499:Far1'

47019

Institutional Source

Beutler Lab

Gene Symbol

Far1

Ensembl Gene

ENSMUSG00000030759

Gene Name

fatty acyl CoA reductase 1

Synonyms

Mlstd2, 3732409C05Rik, 2600011M19Rik, 2900034E22Rik

MMRRC Submission

038695-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.704) question?

Stock #

R0499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113513834-113571511 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 113554296 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,085,415	V388A	probably damaging	Het
Acpp	T	C	9: 104,320,002	E146G	probably damaging	Het
Adap2	A	T	11: 80,176,079	R276S	probably damaging	Het
Agbl3	A	T	6: 34,839,335	M727L	probably benign	Het
Ahnak	T	A	19: 9,000,264		probably benign	Het
Ankmy1	G	T	1: 92,886,226	D410E	probably damaging	Het
Ankra2	T	C	13: 98,266,454	S70P	probably damaging	Het
Aox4	T	C	1: 58,263,397		probably null	Het
Arl13b	G	A	16: 62,801,733	T399I	probably benign	Het
Atad2	A	T	15: 58,103,240	D652E	possibly damaging	Het
Atad2	T	G	15: 58,120,949	M328L	probably benign	Het
BC052040	C	T	2: 115,642,691	R101W	probably damaging	Het
Ccnb1	T	C	13: 100,780,134		probably null	Het
Ccr2	G	C	9: 124,105,939	K85N	possibly damaging	Het
Ccr2	A	T	9: 124,106,126	T148S	possibly damaging	Het
Cdc20b	T	C	13: 113,055,950	V59A	probably benign	Het
Cdkl3	T	C	11: 52,032,416	S507P	possibly damaging	Het
Celf6	C	A	9: 59,602,878	T86K	probably benign	Het
Ces1g	A	G	8: 93,333,689	F101L	probably benign	Het
Cntnap3	C	T	13: 64,858,678	D107N	probably benign	Het
Col15a1	A	T	4: 47,262,950	D534V	probably damaging	Het
Col27a1	A	G	4: 63,300,741		probably benign	Het
Csmd3	T	C	15: 47,847,131	T1687A	probably benign	Het
Cstf3	A	G	2: 104,649,605	I272M	possibly damaging	Het
Cyp2d40	T	C	15: 82,761,217	T150A	probably benign	Het
Dnah8	T	A	17: 30,715,509	F1489L	possibly damaging	Het
Dopey2	A	T	16: 93,770,437	T1251S	probably benign	Het
Dtx2	G	A	5: 136,029,103	G421R	probably damaging	Het
Dusp27	C	A	1: 166,099,101	V981L	probably benign	Het
Epb41l3	T	A	17: 69,247,659	D251E	probably benign	Het
Erg	A	C	16: 95,360,983	Y305*	probably null	Het
Exosc4	G	A	15: 76,329,566	A197T	probably benign	Het
Fam227b	T	A	2: 126,100,909	I323L	probably benign	Het
Fmod	A	G	1: 134,041,196	I325V	possibly damaging	Het
Fshr	C	G	17: 89,009,285	S169T	probably benign	Het
Gm17359	T	A	3: 79,405,786	W56R	probably damaging	Het
Gm17660	C	A	5: 104,074,881	G24*	probably null	Het
Gm4076	G	T	13: 85,127,226		noncoding transcript	Het
Gm5134	A	T	10: 75,992,525	Y313F	probably benign	Het
H2-Q6	T	A	17: 35,425,203	F54I	probably damaging	Het
Hcrtr2	C	A	9: 76,254,672	L145F	probably damaging	Het
Hepacam2	A	G	6: 3,476,121	L268P	probably damaging	Het
Herc2	C	A	7: 56,184,369	C3107*	probably null	Het
Herc4	T	C	10: 63,264,032	V78A	probably damaging	Het
Hyal5	T	C	6: 24,877,921	W339R	probably damaging	Het
Igfbp6	T	A	15: 102,147,984		probably null	Het
Il18rap	A	T	1: 40,525,058	H112L	probably benign	Het
Il1r2	T	A	1: 40,123,149	Y317*	probably null	Het
Ints8	C	A	4: 11,246,097	V190L	probably benign	Het
Ipo11	T	C	13: 106,925,087	T22A	probably benign	Het
Itgb4	C	A	11: 115,979,695	R117S	probably benign	Het
Lcorl	C	G	5: 45,734,369	G214A	probably benign	Het
Lgals3bp	T	A	11: 118,398,193		probably null	Het
Lyst	T	A	13: 13,616,713	L54I	probably damaging	Het
Mcm9	T	C	10: 53,538,154	T1015A	probably benign	Het
Mef2d	T	A	3: 88,156,518	I84N	probably damaging	Het
Mmrn2	A	G	14: 34,397,956	N261S	probably damaging	Het
Mpdz	T	C	4: 81,292,531	T1693A	probably benign	Het
Mss51	T	A	14: 20,484,688	Q338L	possibly damaging	Het
Mstn	T	A	1: 53,063,984	Y160N	probably damaging	Het
Muc6	T	C	7: 141,640,468	T1431A	probably benign	Het
Nek9	A	T	12: 85,301,883	M959K	probably benign	Het
Odf3l2	T	C	10: 79,640,265	D155G	probably damaging	Het
Olfr1311	A	T	2: 112,021,432	C141S	probably damaging	Het
Olfr319	G	A	11: 58,702,243	V181I	probably benign	Het
Olfr911-ps1	A	T	9: 38,524,505	M258L	probably benign	Het
Otog	G	T	7: 46,273,832	G1044W	probably damaging	Het
Pcdh9	G	A	14: 93,886,235	T833M	probably damaging	Het
Pdcd10	T	C	3: 75,527,651	K111R	probably damaging	Het
Pde5a	A	G	3: 122,748,458	N199S	probably damaging	Het
Plekhg1	T	C	10: 3,937,971	V355A	probably damaging	Het
Podn	G	T	4: 108,021,594	L359I	probably damaging	Het
Psd	T	C	19: 46,322,161	E483G	probably damaging	Het
Ptch2	T	A	4: 117,111,143	L905*	probably null	Het
Rxfp2	T	A	5: 150,066,415	N420K	probably damaging	Het
Sde2	T	A	1: 180,862,427	D237E	probably benign	Het
Serpina1d	A	T	12: 103,765,757	L281Q	probably damaging	Het
Serpina9	T	C	12: 104,001,470	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,577,559	K57E	probably damaging	Het
Shc3	C	T	13: 51,480,228		probably benign	Het
Sik3	T	C	9: 46,208,740	M659T	possibly damaging	Het
Slc23a2	A	G	2: 132,072,017	L280P	probably damaging	Het
Smchd1	G	T	17: 71,387,088	Q1221K	probably benign	Het
Spocd1	A	G	4: 129,955,470	N694S	possibly damaging	Het
Tecta	T	C	9: 42,352,063	D1409G	probably damaging	Het
Tmem131	A	T	1: 36,841,673	V172D	probably damaging	Het
Trpm3	T	C	19: 22,986,873	M1244T	possibly damaging	Het
Ugcg	G	C	4: 59,217,036	V187L	possibly damaging	Het
Usp17le	T	C	7: 104,768,501	N478S	probably benign	Het
Usp36	A	G	11: 118,273,571	V205A	probably damaging	Het
Vmn1r25	T	A	6: 57,978,509	Q265L	probably damaging	Het
Vwf	A	T	6: 125,638,114	H1176L	probably benign	Het
Zfyve28	C	T	5: 34,232,206	D217N	possibly damaging	Het
Zranb3	A	C	1: 127,955,080		probably null	Het

Other mutations in Far1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Far1	APN	7	113540689	missense	probably benign	0.07
IGL02597:Far1	APN	7	113551256	missense	probably benign	0.31
IGL02937:Far1	APN	7	113540648	missense	probably damaging	0.98
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
R9028:Far1	UTSW	7	113547422	missense	probably damaging	0.99

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