Mutagenetix > Incidental Mutation

Incidental Mutation 'R9028:Far1'

686872

Institutional Source

Beutler Lab

Gene Symbol

Far1

Ensembl Gene

ENSMUSG00000030759

Gene Name

fatty acyl CoA reductase 1

Synonyms

Mlstd2, 3732409C05Rik, 2600011M19Rik, 2900034E22Rik

MMRRC Submission

068857-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.717) question?

Stock #

R9028 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113513834-113571511 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113547422 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 129 (V129E)

Ref Sequence

ENSEMBL: ENSMUSP00000033018 (fasta)

Gene Model

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

AlphaFold

Q922J9

Predicted Effect

probably damaging
Transcript: ENSMUST00000033018
AA Change: V129E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033018
Gene: ENSMUSG00000030759
AA Change: V129E

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: V129E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000064334
Gene: ENSMUSG00000030759
AA Change: V129E

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 damaging
Transcript: ENSMUST00000129087
AA Change: V129E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117131
Gene: ENSMUSG00000030759
AA Change: V129E

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 damaging
Transcript: ENSMUST00000136158
AA Change: V129E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122643
Gene: ENSMUSG00000030759
AA Change: V129E

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

probably damaging
Transcript: ENSMUST00000164745
AA Change: V129E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128695
Gene: ENSMUSG00000030759
AA Change: V129E

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (74/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	G	A	3: 108,463,503	T687I	probably benign	Het
Aasdh	A	G	5: 76,876,130	V1066A	probably damaging	Het
Abca5	T	A	11: 110,298,078	H851L	probably damaging	Het
Actn2	T	C	13: 12,300,978	I218M	possibly damaging	Het
Afmid	G	A	11: 117,836,663	E338K	probably benign	Het
Amer3	G	A	1: 34,588,677	V666I	probably benign	Het
Apol7b	A	G	15: 77,423,416	V293A	probably damaging	Het
Bag6	T	A	17: 35,144,154	S657T	probably benign	Het
Btaf1	T	C	19: 36,969,108	L438P	probably damaging	Het
Cdc20	T	C	4: 118,436,560	E126G	probably benign	Het
Cep97	C	T	16: 55,919,552	W248*	probably null	Het
Cfap69	A	T	5: 5,646,958	S113T	probably benign	Het
Cgrrf1	C	A	14: 46,853,743	D241E	probably benign	Het
Cnksr1	T	C	4: 134,233,297	T280A	possibly damaging	Het
Cox4i1	T	A	8: 120,671,283		probably benign	Het
Cpm	T	A	10: 117,683,509	F441I	probably benign	Het
Cs	A	C	10: 128,353,083	M154L		Het
Dmrta1	T	A	4: 89,691,677	N291K	probably damaging	Het
Dnah7a	T	C	1: 53,521,138	T2125A	probably benign	Het
Dock10	A	T	1: 80,606,295		probably benign	Het
Dok7	A	G	5: 35,079,475	Y369C	probably damaging	Het
E130311K13Rik	T	C	3: 63,915,548	Y225C	probably damaging	Het
F7	T	C	8: 13,026,087	L10P	possibly damaging	Het
Faf1	C	A	4: 109,890,908	T470K	possibly damaging	Het
Fam83h	A	T	15: 76,003,889	L533Q	possibly damaging	Het
Fgfr4	T	C	13: 55,159,154	Y219H	probably damaging	Het
Fryl	A	T	5: 73,098,266	S807R	probably benign	Het
Gaa	T	A	11: 119,270,381	D83E	probably benign	Het
Gm6970	T	C	19: 47,170,690	K149E	unknown	Het
Grm2	A	G	9: 106,651,185	S167P	possibly damaging	Het
Hibch	T	C	1: 52,853,709	L26P	possibly damaging	Het
Hspa9	T	C	18: 34,942,031	E415G	probably damaging	Het
Ipo4	T	C	14: 55,628,951	Y757C	probably damaging	Het
Itk	T	A	11: 46,344,883		probably benign	Het
Kdm5a	C	T	6: 120,439,131	P1671S	probably benign	Het
Kif13a	G	A	13: 46,798,365	P811S	probably damaging	Het
Kif23	T	C	9: 61,921,059	E857G	probably damaging	Het
Kif2b	A	G	11: 91,577,185	S91P	probably benign	Het
Letm1	G	T	5: 33,752,503	Q396K	probably damaging	Het
Map2k6	T	A	11: 110,497,973	M247K		Het
Mga	A	G	2: 119,947,589	I1872V	probably benign	Het
Mmp15	A	T	8: 95,369,688	N369I	probably benign	Het
Myo3a	T	A	2: 22,600,087	S1487T	possibly damaging	Het
Ncam1	T	C	9: 49,507,436	T855A		Het
Ncoa2	A	G	1: 13,152,855	V1182A	probably benign	Het
Nhlrc3	A	T	3: 53,453,571	C254*	probably null	Het
Nlrp1a	C	T	11: 71,122,993	R477H	probably benign	Het
Nox3	T	A	17: 3,665,910	T407S	possibly damaging	Het
Olfr1229	T	A	2: 89,282,332	D267V	probably damaging	Het
Olfr1375	C	T	11: 51,048,833	T242M	probably damaging	Het
Olfr411	T	C	11: 74,346,921	Y101C	probably damaging	Het
Pfkp	T	A	13: 6,605,689	I303F	probably damaging	Het
Pgc	T	C	17: 47,733,058	Y292H	possibly damaging	Het
Phtf2	A	G	5: 20,794,375	Y257H	probably benign	Het
Pkdrej	T	C	15: 85,816,897	N1613D	probably damaging	Het
Prpmp5	C	T	6: 132,312,655	E69K	unknown	Het
Rapgef2	A	G	3: 79,074,344	S1115P	probably damaging	Het
Rbpj	A	G	5: 53,649,690	E260G	possibly damaging	Het
Rrm1	T	A	7: 102,460,398	N476K	probably damaging	Het
Slc9a2	T	A	1: 40,726,452	I334N	probably damaging	Het
Slk	T	G	19: 47,620,073	N488K	probably benign	Het
Smarca5	T	C	8: 80,714,013	I607M	probably damaging	Het
Sspo	G	A	6: 48,496,153	V162M	probably benign	Het
Svep1	T	G	4: 58,145,199	Q422P	possibly damaging	Het
Tcn2	C	T	11: 3,922,111	V339I	probably damaging	Het
Tnfrsf19	T	C	14: 61,005,201	H78R	probably benign	Het
Trav14-3	C	A	14: 53,763,430	Q33K	unknown	Het
Ubtd2	T	C	11: 32,499,432	I93T	possibly damaging	Het
Uhrf2	G	A	19: 30,089,344		probably null	Het
Vmn1r224	T	G	17: 20,419,850	S230A	possibly damaging	Het
Wee2	A	T	6: 40,444,255	H93L	probably benign	Het
Zdhhc17	T	C	10: 110,961,073	E279G	probably damaging	Het
Zfp623	T	A	15: 75,947,500	F102I	probably damaging	Het
Zfpm2	A	C	15: 41,103,362	E1081A	possibly damaging	Het
Zscan18	A	T	7: 12,772,189		probably benign	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
R0499:Far1	UTSW	7	113554296	intron	probably benign
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
R9519:Far1	UTSW	7	113551352	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCCCAATCTGATTCCATAGCTTTG -3'
(R):5'- GCATATGTATATTTGTACCACAGGGG -3'

Sequencing Primer
(F):5'- CAATGTATGCTTTGTTTTTCAAACCC -3'
(R):5'- GGACTCAGAGTCTTAGAATTAAAAGC -3'

Posted On

2021-11-19