Mutagenetix > Incidental Mutation

Incidental Mutation 'R4426:Far1'

328170

Institutional Source

Beutler Lab

Gene Symbol

Far1

Ensembl Gene

ENSMUSG00000030759

Gene Name

fatty acyl CoA reductase 1

Synonyms

Mlstd2, 2600011M19Rik, 2900034E22Rik, 3732409C05Rik

MMRRC Submission

041697-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.754) question?

Stock #

R4426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113113041-113170718 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 113149208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 194 (P194Q)

Ref Sequence

ENSEMBL: ENSMUSP00000128695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033018] [ENSMUST00000067929] [ENSMUST00000129087] [ENSMUST00000136158] [ENSMUST00000164745]

AlphaFold

Q922J9

Predicted Effect

probably benign
Transcript: ENSMUST00000033018
AA Change: P194Q

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000033018
Gene: ENSMUSG00000030759
AA Change: P194Q

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
AA Change: P194Q

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000064334
Gene: ENSMUSG00000030759
AA Change: P194Q

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: ENSMUST00000129087

SMART Domains

Protein: ENSMUSP00000117131
Gene: ENSMUSG00000030759

Domain	Start	End	E-Value	Type
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
AA Change: P194Q

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000122643
Gene: ENSMUSG00000030759
AA Change: P194Q

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

probably benign
Transcript: ENSMUST00000164745
AA Change: P194Q

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000128695
Gene: ENSMUSG00000030759
AA Change: P194Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156875

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

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
Albfm1	G	T	5: 90,720,642 (GRCm39)	C271F	probably damaging	Het
Arhgef39	C	T	4: 43,497,112 (GRCm39)	G293E	possibly damaging	Het
Atp8a1	A	C	5: 67,932,171 (GRCm39)	I206S	probably benign	Het
Cacnb2	A	T	2: 14,980,026 (GRCm39)	R290*	probably null	Het
Ccdc137	T	C	11: 120,351,074 (GRCm39)	S159P	probably damaging	Het
Chil5	A	G	3: 105,926,943 (GRCm39)	S231P	probably damaging	Het
Cic	C	T	7: 24,993,433 (GRCm39)		probably benign	Het
Csmd3	A	G	15: 47,532,581 (GRCm39)	V2434A	possibly damaging	Het
Csnk1a1	A	G	18: 61,718,381 (GRCm39)		probably benign	Het
Eif4e1b	T	C	13: 54,932,296 (GRCm39)	S49P	probably benign	Het
Fut4	T	C	9: 14,662,677 (GRCm39)	T206A	possibly damaging	Het
Galnt7	G	T	8: 58,005,606 (GRCm39)	S209*	probably null	Het
Gas2l1	A	G	11: 5,013,908 (GRCm39)	V184A	probably benign	Het
Herc1	T	C	9: 66,403,287 (GRCm39)	L4402P	probably damaging	Het
Hoxa13	C	A	6: 52,237,714 (GRCm39)		probably benign	Het
Ighv1-9	T	A	12: 114,547,416 (GRCm39)	K42*	probably null	Het
Kif20a	C	T	18: 34,764,994 (GRCm39)	R743W	probably damaging	Het
Lama2	G	A	10: 27,298,554 (GRCm39)	R181C	probably damaging	Het
Lrp2	G	T	2: 69,336,692 (GRCm39)	T1360K	probably benign	Het
Map4k1	G	A	7: 28,688,020 (GRCm39)	V177I	probably damaging	Het
Nbea	G	A	3: 55,989,800 (GRCm39)	T352I	probably damaging	Het
Nde1	A	G	16: 14,006,200 (GRCm39)	T82A	possibly damaging	Het
Nes	A	G	3: 87,883,349 (GRCm39)	E536G	probably damaging	Het
Nms	C	T	1: 38,978,377 (GRCm39)	P4L	probably benign	Het
Nrip1	T	C	16: 76,088,293 (GRCm39)	Q1088R	possibly damaging	Het
Nwd1	A	G	8: 73,393,423 (GRCm39)	K229E	probably damaging	Het
Or51f1d	T	C	7: 102,701,018 (GRCm39)	L171P	probably damaging	Het
Or52ad1	A	G	7: 102,995,290 (GRCm39)	Y282H	probably damaging	Het
Pcdhac2	T	A	18: 37,277,796 (GRCm39)	S259T	probably benign	Het
Pdcd5	T	C	7: 35,345,605 (GRCm39)	D102G	possibly damaging	Het
Pgm1	T	C	4: 99,819,337 (GRCm39)	V169A	probably benign	Het
Pitpnm2	C	T	5: 124,280,186 (GRCm39)	E121K	probably benign	Het
Plin3	T	C	17: 56,593,555 (GRCm39)	Y53C	probably damaging	Het
Poc1b	T	C	10: 98,991,001 (GRCm39)		probably null	Het
Polr2c	A	T	8: 95,590,090 (GRCm39)	N232Y	probably damaging	Het
Ppp1r9b	A	T	11: 94,892,150 (GRCm39)	R188S	possibly damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rab3gap2	G	A	1: 184,967,539 (GRCm39)	S141N	probably damaging	Het
Radx	T	C	X: 138,381,645 (GRCm39)	V134A	possibly damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rnf166	A	G	8: 123,196,979 (GRCm39)	L91P	probably damaging	Het
Robo2	T	A	16: 73,745,154 (GRCm39)	M200L	probably damaging	Het
Rp1	A	T	1: 4,418,147 (GRCm39)	H988Q	probably benign	Het
Sbno2	T	C	10: 79,908,192 (GRCm39)	K69R	probably null	Het
Sgce	G	A	6: 4,691,459 (GRCm39)	A295V	probably damaging	Het
Shc3	C	G	13: 51,634,130 (GRCm39)		probably null	Het
Slc44a1	T	C	4: 53,563,286 (GRCm39)	V671A	probably benign	Het
Sptbn4	A	C	7: 27,123,223 (GRCm39)	L233R	probably damaging	Het
Stx5a	A	G	19: 8,727,104 (GRCm39)	T252A	probably benign	Het
Timd6	T	A	11: 46,475,247 (GRCm39)	F147L	probably benign	Het
Tmem87b	C	T	2: 128,688,670 (GRCm39)	A485V	probably benign	Het
Tns1	A	G	1: 74,024,908 (GRCm39)	I403T	probably damaging	Het
Ttll10	G	C	4: 156,133,018 (GRCm39)	T22R	possibly damaging	Het
Uevld	A	T	7: 46,589,890 (GRCm39)	S293T	probably benign	Het
Utp18	T	C	11: 93,757,264 (GRCm39)	N467D	probably damaging	Het
Vmn1r39	A	T	6: 66,782,345 (GRCm39)		probably null	Het
Vmn2r106	A	G	17: 20,505,641 (GRCm39)	S18P	probably benign	Het
Vmn2r61	A	T	7: 41,950,157 (GRCm39)	H859L	probably benign	Het
Vmn2r61	T	C	7: 41,950,159 (GRCm39)	S860P	probably benign	Het
Vmn2r72	G	A	7: 85,387,036 (GRCm39)	R843*	probably null	Het
Vwc2	A	G	11: 11,104,235 (GRCm39)	T256A	probably damaging	Het
Zfp715	T	C	7: 42,960,516 (GRCm39)	D25G	probably 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
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'- TCCAGGCGTTGCAGATTGTG -3'
(R):5'- TCTGAGTCCCAAGAGCTTAACAG -3'

Sequencing Primer
(F):5'- CCTGGTTTACAAGCAAGGTCCTG -3'
(R):5'- GCTTTGAAGAGCTTACTGGAAAAG -3'

Posted On

2015-07-07