Mutagenetix > Incidental Mutation

Incidental Mutation 'R2140:Far1'

236136

Institutional Source

Beutler Lab

Gene Symbol

Far1

Ensembl Gene

ENSMUSG00000030759

Gene Name

fatty acyl CoA reductase 1

Synonyms

Mlstd2, 2600011M19Rik, 2900034E22Rik, 3732409C05Rik

MMRRC Submission

040143-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.791) question?

Stock #

R2140 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113113041-113170718 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 113165667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 445 (V445M)

Ref Sequence

ENSEMBL: ENSMUSP00000128695 (fasta)

Gene Model

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

AlphaFold

Q922J9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033018
AA Change: V445M

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033018
Gene: ENSMUSG00000030759
AA Change: V445M

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

possibly damaging
Transcript: ENSMUST00000067929
AA Change: V445M

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000064334
Gene: ENSMUSG00000030759
AA Change: V445M

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

possibly damaging
Transcript: ENSMUST00000164745
AA Change: V445M

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128695
Gene: ENSMUSG00000030759
AA Change: V445M

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (96/96)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	T	C	14: 4,348,902 (GRCm38)	I21T	probably damaging	Het
Adgrf1	A	C	17: 43,611,693 (GRCm39)	E186D	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Afdn	A	G	17: 14,030,695 (GRCm39)	E202G	probably damaging	Het
Agfg2	T	A	5: 137,665,378 (GRCm39)	R126W	probably damaging	Het
Alkbh2	C	T	5: 114,263,777 (GRCm39)	V77I	probably benign	Het
Alppl2	A	G	1: 87,015,419 (GRCm39)	S381P	probably benign	Het
Aqp2	A	G	15: 99,477,247 (GRCm39)	T72A	probably damaging	Het
Atp9b	A	G	18: 80,779,302 (GRCm39)	C1123R	probably damaging	Het
AU016765	T	A	17: 64,826,995 (GRCm39)		noncoding transcript	Het
Bscl2	T	C	19: 8,822,684 (GRCm39)		probably null	Het
Ccdc80	A	T	16: 44,947,809 (GRCm39)	Y929F	probably damaging	Het
Cenpj	T	C	14: 56,764,389 (GRCm39)	D1341G	probably damaging	Het
Cfap300	T	C	9: 8,022,478 (GRCm39)	D248G	probably damaging	Het
Cir1	A	T	2: 73,142,781 (GRCm39)	S18T	probably damaging	Het
Clcn6	A	G	4: 148,108,594 (GRCm39)	F145S	possibly damaging	Het
Cnksr1	A	G	4: 133,956,939 (GRCm39)	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,012,818 (GRCm39)		probably null	Het
Crb1	T	C	1: 139,164,750 (GRCm39)	I1125V	probably benign	Het
Cyp3a13	A	T	5: 137,919,716 (GRCm39)	V20D	possibly damaging	Het
Dars1	T	A	1: 128,299,899 (GRCm39)	M362L	probably benign	Het
Dck	T	C	5: 88,920,582 (GRCm39)	C101R	probably damaging	Het
Dnah11	T	C	12: 117,972,545 (GRCm39)	T2880A	probably benign	Het
Dnah7b	T	A	1: 46,307,830 (GRCm39)	M3048K	probably damaging	Het
Eef1a2	C	T	2: 180,790,535 (GRCm39)	E374K	probably benign	Het
Eif3a	A	T	19: 60,763,832 (GRCm39)		probably benign	Het
Esco1	A	G	18: 10,574,873 (GRCm39)		probably null	Het
Exoc8	C	T	8: 125,624,154 (GRCm39)	R71Q	possibly damaging	Het
Fbn1	C	A	2: 125,185,730 (GRCm39)	C1648F	probably damaging	Het
Fmn1	A	G	2: 113,425,393 (GRCm39)	K1189R	probably benign	Het
Foxl2	C	A	9: 98,838,540 (GRCm39)	P276H	unknown	Het
Fpr3	T	A	17: 18,190,879 (GRCm39)	V50E	probably damaging	Het
Garem1	T	A	18: 21,262,431 (GRCm39)	R794S	probably damaging	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Glyatl3	T	C	17: 41,221,975 (GRCm39)	D93G	probably benign	Het
Gm4787	A	G	12: 81,425,336 (GRCm39)	I274T	probably benign	Het
Gucy1a1	C	T	3: 82,026,193 (GRCm39)		probably null	Het
Hook1	GATGAATGA	GATGA	4: 95,901,549 (GRCm39)	503	probably null	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Ints13	A	G	6: 146,477,929 (GRCm39)	S7P	probably damaging	Het
Kat5	T	A	19: 5,655,713 (GRCm39)		probably null	Het
Kcnma1	A	C	14: 23,364,288 (GRCm39)	L988R	probably damaging	Het
Kcnq3	C	A	15: 65,877,827 (GRCm39)		probably benign	Het
Kctd16	A	G	18: 40,392,231 (GRCm39)	E273G	possibly damaging	Het
Krt82	T	A	15: 101,453,591 (GRCm39)	Q265L	probably damaging	Het
Lama2	A	T	10: 26,930,690 (GRCm39)		probably null	Het
Laptm4b	G	T	15: 34,238,478 (GRCm39)	M3I	probably benign	Het
Lmtk2	A	G	5: 144,084,433 (GRCm39)	Y156C	probably damaging	Het
Lrrc58	G	A	16: 37,701,771 (GRCm39)	E350K	probably damaging	Het
Lrrk1	A	T	7: 65,980,498 (GRCm39)	D227E	probably damaging	Het
Macf1	C	T	4: 123,248,895 (GRCm39)	C7210Y	probably damaging	Het
Madd	A	G	2: 90,982,854 (GRCm39)	I1363T	possibly damaging	Het
Mcm3	A	G	1: 20,883,334 (GRCm39)	V295A	probably benign	Het
Mki67	A	G	7: 135,297,321 (GRCm39)	I2571T	possibly damaging	Het
Mtrr	C	T	13: 68,717,059 (GRCm39)	A385T	possibly damaging	Het
Myh7b	A	G	2: 155,462,043 (GRCm39)	Y313C	probably damaging	Het
Myot	A	T	18: 44,487,192 (GRCm39)	H343L	possibly damaging	Het
Myt1	C	A	2: 181,467,772 (GRCm39)	Q1069K	probably damaging	Het
Nid1	T	A	13: 13,674,253 (GRCm39)	D877E	probably damaging	Het
Nle1	A	G	11: 82,796,394 (GRCm39)	V159A	probably damaging	Het
Nmbr	C	A	10: 14,646,186 (GRCm39)	Y353*	probably null	Het
Nos1ap	T	A	1: 170,156,735 (GRCm39)	D241V	probably damaging	Het
Nostrin	A	C	2: 68,996,347 (GRCm39)	Y209S	probably damaging	Het
Or14j4	T	G	17: 37,921,362 (GRCm39)	E93D	probably benign	Het
Or1e19	A	T	11: 73,316,707 (GRCm39)	M34K	probably damaging	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or5d40	A	T	2: 88,015,439 (GRCm39)	S73C	probably benign	Het
Or8h9	A	T	2: 86,789,625 (GRCm39)	M59K	probably damaging	Het
Or8s2	G	A	15: 98,276,277 (GRCm39)	T238I	possibly damaging	Het
Pcdh7	T	A	5: 58,286,338 (GRCm39)	V1138E	probably damaging	Het
Pglyrp3	T	G	3: 91,933,874 (GRCm39)	V173G	probably benign	Het
Plec	T	C	15: 76,067,374 (GRCm39)	T1331A	probably benign	Het
Plxnb2	T	C	15: 89,040,765 (GRCm39)	D1787G	probably benign	Het
Pms1	T	A	1: 53,321,147 (GRCm39)	I29F	probably damaging	Het
Ptprt	G	A	2: 161,653,908 (GRCm39)	T574I	probably damaging	Het
R3hdm1	A	G	1: 128,118,430 (GRCm39)	Y561C	probably damaging	Het
Rab17	A	G	1: 90,887,800 (GRCm39)	F120S	probably benign	Het
Rab7b	T	A	1: 131,626,157 (GRCm39)	W62R	probably damaging	Het
Ryr2	C	T	13: 11,575,493 (GRCm39)	G4835E	probably damaging	Het
Ryr3	A	G	2: 112,705,493 (GRCm39)	V807A	probably benign	Het
Septin4	A	T	11: 87,474,262 (GRCm39)	Q60L	probably benign	Het
Slc23a1	C	T	18: 35,759,487 (GRCm39)	R26Q	unknown	Het
Slc7a4	C	A	16: 17,392,408 (GRCm39)	R342L	possibly damaging	Het
Slfn9	C	T	11: 82,875,481 (GRCm39)	C367Y	possibly damaging	Het
Slitrk6	T	G	14: 110,988,226 (GRCm39)	T494P	probably benign	Het
Tasor	C	T	14: 27,201,992 (GRCm39)	T1462I	probably damaging	Het
Tiam1	A	G	16: 89,646,533 (GRCm39)		probably benign	Het
Tiparp	C	A	3: 65,436,673 (GRCm39)		probably benign	Het
Tmem39b	T	C	4: 129,572,481 (GRCm39)	T374A	probably benign	Het
Trim5	G	A	7: 103,925,998 (GRCm39)	R188*	probably null	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ubr4	C	T	4: 139,204,518 (GRCm39)	T4810M	probably damaging	Het
Vmn2r26	A	T	6: 124,038,196 (GRCm39)	E590D	probably benign	Het
Wwc1	A	G	11: 35,761,355 (GRCm39)	F650S	probably benign	Het
Xrcc6	T	A	15: 81,907,178 (GRCm39)	F167I	probably damaging	Het
Zfp1005	A	T	2: 150,111,281 (GRCm39)	H657L	probably benign	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
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'- CTATATAAGAAGGGGAGGCTGC -3'
(R):5'- AACCCAAGGGCAAGCATTTT -3'

Sequencing Primer
(F):5'- TATATAAGAAGGGGAGGCTGCAGATG -3'
(R):5'- GAAAAGGCTCATCAAGCC -3'

Posted On

2014-10-01