Mutagenetix > Incidental Mutation

Incidental Mutation 'R5762:Far1'

446056

Institutional Source

Beutler Lab

Gene Symbol

Far1

Ensembl Gene

ENSMUSG00000030759

Gene Name

fatty acyl CoA reductase 1

Synonyms

Mlstd2, 2600011M19Rik, 2900034E22Rik, 3732409C05Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.754) question?

Stock #

R5762 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113113041-113170718 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113167396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 494 (Y494N)

Ref Sequence

ENSEMBL: ENSMUSP00000128695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033018] [ENSMUST00000067929] [ENSMUST00000164745]

AlphaFold

Q922J9

Predicted Effect

probably damaging
Transcript: ENSMUST00000033018
AA Change: Y494N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033018
Gene: ENSMUSG00000030759
AA Change: Y494N

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 damaging
Transcript: ENSMUST00000067929
AA Change: Y494N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064334
Gene: ENSMUSG00000030759
AA Change: Y494N

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: ENSMUST00000138253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155183

Predicted Effect

probably damaging
Transcript: ENSMUST00000164745
AA Change: Y494N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128695
Gene: ENSMUSG00000030759
AA Change: Y494N

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 77,044,445 (GRCm39)	D148E	probably benign	Het
Abca13	A	G	11: 9,531,665 (GRCm39)	I4631V	probably damaging	Het
Adamts16	A	T	13: 70,886,617 (GRCm39)	W1058R	probably damaging	Het
Adgrf5	A	G	17: 43,741,586 (GRCm39)	I163V	probably null	Het
Ano1	T	A	7: 144,201,774 (GRCm39)	Y338F	probably damaging	Het
Atp4a	A	G	7: 30,418,521 (GRCm39)	D603G	probably damaging	Het
Bmp2k	GGCCCGC	GGC	5: 97,235,050 (GRCm39)		probably null	Het
Brinp2	T	C	1: 158,074,156 (GRCm39)	D655G	probably benign	Het
C3ar1	A	G	6: 122,827,321 (GRCm39)	S299P	probably benign	Het
Calhm1	T	A	19: 47,132,058 (GRCm39)		probably null	Het
Ccdc187	G	A	2: 26,166,104 (GRCm39)	P775L	possibly damaging	Het
Cd27	A	G	6: 125,213,561 (GRCm39)	F48S	probably damaging	Het
Cfap52	A	G	11: 67,844,947 (GRCm39)	Y41H	possibly damaging	Het
Cntn5	A	G	9: 9,748,394 (GRCm39)	S701P	possibly damaging	Het
Ctbp2	G	T	7: 132,597,088 (GRCm39)	A665D	probably damaging	Het
Ctsd	C	A	7: 141,937,266 (GRCm39)	G81C	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dpysl4	C	T	7: 138,671,853 (GRCm39)	A67V	probably benign	Het
Dst	C	T	1: 34,218,438 (GRCm39)	T1626I	probably damaging	Het
Etfdh	A	C	3: 79,523,261 (GRCm39)	D217E	probably null	Het
Fndc1	G	A	17: 7,990,366 (GRCm39)	T1110M	unknown	Het
Frmd4a	G	T	2: 4,488,876 (GRCm39)	D78Y	probably damaging	Het
Fsip2	G	A	2: 82,808,260 (GRCm39)	M1526I	probably benign	Het
Ggn	C	T	7: 28,871,777 (GRCm39)	P399S	probably damaging	Het
H2ac6	C	T	13: 23,867,888 (GRCm39)	G5S	probably damaging	Het
Hap1	A	G	11: 100,246,600 (GRCm39)	W102R	probably damaging	Het
Herc2	T	A	7: 55,846,938 (GRCm39)	S3629R	possibly damaging	Het
Hyal4	A	C	6: 24,765,861 (GRCm39)	Y405S	possibly damaging	Het
Ifi204	G	A	1: 173,580,325 (GRCm39)	T395I	probably damaging	Het
Igsf9	A	G	1: 172,326,005 (GRCm39)	E1147G	probably damaging	Het
Inpp5a	T	A	7: 139,118,097 (GRCm39)	I225N	possibly damaging	Het
Kcnv1	T	C	15: 44,972,518 (GRCm39)	K455R	probably damaging	Het
Kmt2c	T	C	5: 25,515,455 (GRCm39)	D2796G	probably benign	Het
Ngp	A	T	9: 110,251,401 (GRCm39)	D143V	probably benign	Het
Nlrp5	T	C	7: 23,118,264 (GRCm39)	C663R	possibly damaging	Het
Nup205	G	T	6: 35,204,615 (GRCm39)	R1469L	probably damaging	Het
Nup205	T	A	6: 35,207,483 (GRCm39)	F1512I	probably damaging	Het
Nwd1	T	C	8: 73,397,542 (GRCm39)	S594P	probably damaging	Het
Nxpe2	A	C	9: 48,230,875 (GRCm39)	V498G	probably benign	Het
P3h4	G	A	11: 100,302,677 (GRCm39)	R320C	probably damaging	Het
Plec	A	G	15: 76,063,455 (GRCm39)	L2273P	probably damaging	Het
Ppp1r14b	C	T	19: 6,953,951 (GRCm39)	L100F	probably damaging	Het
Prlhr	C	T	19: 60,455,506 (GRCm39)	W353*	probably null	Het
Ralgps2	C	T	1: 156,660,234 (GRCm39)		probably null	Het
Rrp12	C	T	19: 41,868,591 (GRCm39)	G584D	possibly damaging	Het
Scamp3	T	C	3: 89,088,504 (GRCm39)	F237L	probably damaging	Het
Scn10a	A	G	9: 119,464,507 (GRCm39)		probably null	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Shroom1	A	T	11: 53,354,818 (GRCm39)	D246V	probably benign	Het
Snapc4	T	A	2: 26,268,618 (GRCm39)	E14D	probably damaging	Het
Spag5	A	T	11: 78,194,972 (GRCm39)	Q93L	probably benign	Het
Tcstv5	T	A	13: 120,411,501 (GRCm39)	Q35L	probably benign	Het
Tle1	C	T	4: 72,038,372 (GRCm39)		probably null	Het
Ttll10	G	A	4: 156,119,438 (GRCm39)	P683S	possibly damaging	Het
Unc13c	A	C	9: 73,719,649 (GRCm39)	D1006E	probably benign	Het
Unc80	A	T	1: 66,732,955 (GRCm39)	K3101N	possibly damaging	Het
Vdac1	A	G	11: 52,278,280 (GRCm39)	Y247C	possibly damaging	Het
Vmn2r1	G	A	3: 63,997,474 (GRCm39)	V377I	probably benign	Het
Vmn2r23	A	G	6: 123,710,352 (GRCm39)	T552A	probably damaging	Het
Xrcc3	C	T	12: 111,771,044 (GRCm39)	R295Q	probably damaging	Het
Zfp780b	T	C	7: 27,664,243 (GRCm39)	N104S	probably benign	Het
Zkscan17	A	G	11: 59,378,397 (GRCm39)	V262A	possibly damaging	Het

Other mutations in Far1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R0499:Far1	UTSW	7	113,153,503 (GRCm39)	intron	probably benign
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
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'- CTGTCCAGTTGTAGGCAGATATG -3'
(R):5'- TCCACGCTCCAATTTAAGATGG -3'

Sequencing Primer
(F):5'- AGGCAGATATGTTTGAAATGTGC -3'
(R):5'- CGCTCCAATTTAAGATGGTTTAATG -3'

Posted On

2016-11-21