Mutagenetix > Incidental Mutation

Incidental Mutation 'R2045:Far1'

221825

Institutional Source

Beutler Lab

Gene Symbol

Far1

Ensembl Gene

ENSMUSG00000030759

Gene Name

fatty acyl CoA reductase 1

Synonyms

Mlstd2, 2600011M19Rik, 2900034E22Rik, 3732409C05Rik

MMRRC Submission

040052-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.791) question?

Stock #

R2045 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113113041-113170718 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 113138478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033018] [ENSMUST00000033018] [ENSMUST00000067929] [ENSMUST00000067929] [ENSMUST00000122890] [ENSMUST00000122890] [ENSMUST00000129087] [ENSMUST00000129087] [ENSMUST00000136158] [ENSMUST00000164745] [ENSMUST00000164745]

AlphaFold

Q922J9

Predicted Effect

probably null
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 null
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 null
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

probably null
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

probably null
Transcript: ENSMUST00000122890

Predicted Effect

probably null
Transcript: ENSMUST00000122890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123845

Predicted Effect

probably null
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 null
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

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

probably null
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

Predicted Effect

probably null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156875

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (74/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	T	19: 34,220,799 (GRCm39)	G303E	probably damaging	Het
Adamts1	A	T	16: 85,592,864 (GRCm39)	Y515N	probably damaging	Het
Ankef1	T	C	2: 136,396,658 (GRCm39)	V695A	probably benign	Het
Ankrd63	C	A	2: 118,533,834 (GRCm39)		probably benign	Het
Asah2	A	T	19: 32,030,356 (GRCm39)	N105K	probably benign	Het
Atf2	A	C	2: 73,693,552 (GRCm39)	D3E	probably damaging	Het
Atp5pb	T	C	3: 105,851,190 (GRCm39)		probably benign	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bms1	A	C	6: 118,369,588 (GRCm39)	L960W	probably damaging	Het
Cacna1c	A	G	6: 118,633,098 (GRCm39)	V977A	probably damaging	Het
Cadps2	A	G	6: 23,839,121 (GRCm39)	S6P	possibly damaging	Het
Capn8	A	G	1: 182,440,951 (GRCm39)	T462A	probably benign	Het
Cd226	T	C	18: 89,225,486 (GRCm39)	S128P	probably benign	Het
Cd33	G	T	7: 43,179,316 (GRCm39)	H278N	probably benign	Het
Cdh1	T	C	8: 107,392,814 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,874,671 (GRCm39)		probably null	Het
Chit1	A	G	1: 134,078,882 (GRCm39)	I397M	probably benign	Het
Cic	C	A	7: 24,970,961 (GRCm39)	Q231K	possibly damaging	Het
Clca4b	A	G	3: 144,630,924 (GRCm39)	V312A	probably damaging	Het
Cngb1	T	A	8: 96,023,713 (GRCm39)		probably null	Het
Cyfip2	T	C	11: 46,140,616 (GRCm39)	I430V	probably benign	Het
Dnah12	A	G	14: 26,503,485 (GRCm39)	E1613G	probably null	Het
Dock2	T	C	11: 34,244,106 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,160,171 (GRCm39)	F646I	probably damaging	Het
Eef1b2	A	T	1: 63,218,646 (GRCm39)	K144*	probably null	Het
Erap1	T	C	13: 74,817,569 (GRCm39)	V137A	probably benign	Het
Fbn2	A	T	18: 58,223,730 (GRCm39)	C807S	probably damaging	Het
Fgfr1	A	G	8: 26,048,231 (GRCm39)	K209R	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Frem2	A	T	3: 53,443,165 (GRCm39)	V2533D	probably damaging	Het
Hip1r	T	C	5: 124,138,794 (GRCm39)	M839T	probably benign	Het
Igfbp2	A	G	1: 72,891,310 (GRCm39)	S303G	probably benign	Het
Insyn2a	T	G	7: 134,520,159 (GRCm39)	K124Q	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Itgb3	T	G	11: 104,514,239 (GRCm39)	S27A	probably benign	Het
Kif21b	G	A	1: 136,088,051 (GRCm39)	D1015N	probably damaging	Het
Krt7	A	T	15: 101,321,365 (GRCm39)		probably null	Het
Krtdap	T	A	7: 30,490,010 (GRCm39)	F80L	probably benign	Het
Lcp1	A	T	14: 75,437,841 (GRCm39)	T84S	probably benign	Het
Lipi	G	A	16: 75,347,087 (GRCm39)	T444I	probably damaging	Het
Lrguk	A	T	6: 34,048,003 (GRCm39)	E316V	probably damaging	Het
Lypd1	G	A	1: 125,838,272 (GRCm39)		probably benign	Het
Med12l	A	T	3: 59,169,731 (GRCm39)	K1632*	probably null	Het
Mrgpra9	A	T	7: 46,885,583 (GRCm39)	M28K	probably benign	Het
Mylk	A	G	16: 34,774,023 (GRCm39)	K1291E	probably benign	Het
Nek4	T	A	14: 30,675,880 (GRCm39)	W72R	probably damaging	Het
Nudt8	T	C	19: 4,051,899 (GRCm39)	V170A	probably damaging	Het
Oosp3	T	A	19: 11,676,733 (GRCm39)	Y31N	probably benign	Het
Padi2	A	T	4: 140,665,241 (GRCm39)	R449W	probably damaging	Het
Pcf11	G	T	7: 92,311,087 (GRCm39)	N300K	probably damaging	Het
Pcsk5	T	C	19: 17,558,508 (GRCm39)	D633G	possibly damaging	Het
Phlpp2	T	A	8: 110,634,232 (GRCm39)	W271R	probably damaging	Het
Pikfyve	T	C	1: 65,292,512 (GRCm39)	V1276A	probably benign	Het
Pkhd1l1	A	T	15: 44,343,050 (GRCm39)	N176Y	probably damaging	Het
Pop5	T	G	5: 115,376,271 (GRCm39)	V33G	possibly damaging	Het
Prkag2	A	G	5: 25,152,580 (GRCm39)	F175L	possibly damaging	Het
Ptpn22	T	A	3: 103,781,337 (GRCm39)	D79E	possibly damaging	Het
Rab32	T	G	10: 10,426,577 (GRCm39)	D123A	probably damaging	Het
Rnpc3	T	C	3: 113,402,009 (GRCm39)	K513E	possibly damaging	Het
Senp1	A	T	15: 97,957,825 (GRCm39)	F358I	possibly damaging	Het
Sft2d2	A	G	1: 165,012,647 (GRCm39)	L83P	probably damaging	Het
Slc9c1	G	A	16: 45,400,613 (GRCm39)	R741H	probably damaging	Het
Smad4	A	T	18: 73,782,877 (GRCm39)	Y352*	probably null	Het
Tamm41	T	A	6: 114,993,056 (GRCm39)	Q232H	probably benign	Het
Tbx6	T	A	7: 126,382,055 (GRCm39)	L131Q	probably damaging	Het
Trappc10	T	C	10: 78,045,313 (GRCm39)		probably benign	Het
Trp53bp1	C	A	2: 121,034,964 (GRCm39)	A108S	probably benign	Het
Tut7	T	C	13: 59,948,470 (GRCm39)	Y215C	probably damaging	Het
Unc13b	G	A	4: 43,091,266 (GRCm39)	V31M	probably damaging	Het
Usp24	T	C	4: 106,258,177 (GRCm39)	M1525T	possibly damaging	Het
Vax2	G	A	6: 83,688,252 (GRCm39)		probably benign	Het
Vcan	T	A	13: 89,839,104 (GRCm39)	I2147L	probably benign	Het
Zbtb7a	C	A	10: 80,980,244 (GRCm39)	A146E	probably benign	Het
Zfp287	A	G	11: 62,618,395 (GRCm39)	L157P	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
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'- GATCCAGGAAAGAGCTAGCTC -3'
(R):5'- AGCTCCCAAACTTACCTTGC -3'

Sequencing Primer
(F):5'- CTTGAGGGAGCTGCAATCCATTC -3'
(R):5'- CCAAACTTACCTTGCTACTGAGG -3'

Posted On

2014-08-25