Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01650:Far2'

102808

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Far2

Ensembl Gene

ENSMUSG00000030303

Gene Name

fatty acyl CoA reductase 2

Synonyms

Mlstd1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01650

Quality Score

Status

Chromosome

Chromosomal Location

148047259-148182758 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 148173487 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 406 (T406K)

Ref Sequence

ENSEMBL: ENSMUSP00000107234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032443] [ENSMUST00000111607]

AlphaFold

Q7TNT2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032443
AA Change: T406K

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032443
Gene: ENSMUSG00000030303
AA Change: T406K

Domain	Start	End	E-Value	Type
Pfam:Polysacc_synt_2	13	160	5.3e-8	PFAM
Pfam:Epimerase	13	242	7.5e-9	PFAM
Pfam:3Beta_HSD	14	167	3.4e-7	PFAM
Pfam:NAD_binding_4	15	285	3.3e-76	PFAM
Pfam:Sterile	356	448	4.3e-35	PFAM
transmembrane domain	465	484	N/A	INTRINSIC
transmembrane domain	491	510	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111607
AA Change: T406K

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107234
Gene: ENSMUSG00000030303
AA Change: T406K

Domain	Start	End	E-Value	Type
Pfam:Polysacc_synt_2	13	159	2.9e-8	PFAM
Pfam:Epimerase	13	241	3.2e-10	PFAM
Pfam:3Beta_HSD	14	167	4.2e-7	PFAM
Pfam:NAD_binding_4	15	285	3.2e-73	PFAM
Pfam:Sterile	355	448	1.2e-29	PFAM
transmembrane domain	466	483	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 36,992,673		probably benign	Het
Agbl1	A	G	7: 76,420,319	D281G	probably damaging	Het
Arhgap28	T	C	17: 67,873,132	E236G	probably damaging	Het
Btbd3	A	T	2: 138,284,105	D334V	probably damaging	Het
Cabp4	T	C	19: 4,139,324	E78G	probably benign	Het
Clcn4	T	C	7: 7,284,281		probably benign	Het
Col14a1	A	G	15: 55,406,693	Y600C	unknown	Het
Cpne4	A	G	9: 104,901,511	D167G	probably damaging	Het
Eif3a	T	A	19: 60,773,996	I450F	probably damaging	Het
Enpp2	T	A	15: 54,919,933	Y10F	probably benign	Het
Fam227a	A	T	15: 79,634,073	H339Q	possibly damaging	Het
Fmo1	A	G	1: 162,833,584	S377P	probably benign	Het
Fsip2	G	A	2: 82,991,086	S5721N	probably benign	Het
Gatb	T	C	3: 85,613,484	I300T	possibly damaging	Het
Gpam	T	C	19: 55,081,700	N375D	probably benign	Het
Gsdma	G	T	11: 98,673,687	D331Y	probably damaging	Het
Kif13b	T	C	14: 64,765,145	V1073A	probably benign	Het
Mfsd4b1	T	A	10: 40,003,119	M261L	probably benign	Het
Nav1	A	T	1: 135,454,760	D1321E	probably damaging	Het
Olfr1312	A	G	2: 112,042,375	I219T	possibly damaging	Het
Olfr592	A	G	7: 103,187,079	I159M	probably benign	Het
Olfr813	T	A	10: 129,857,067	L183Q	probably damaging	Het
Olfr816	A	G	10: 129,911,681	V199A	probably benign	Het
Olfr951	G	T	9: 39,393,956	S55I	probably damaging	Het
Ppp1r10	G	T	17: 35,931,161	R857L	unknown	Het
Prune2	T	A	19: 17,168,292	I2752N	possibly damaging	Het
Pxdn	T	C	12: 30,002,401	I859T	probably benign	Het
Ros1	T	C	10: 52,154,979	D510G	probably damaging	Het
Sema3g	C	A	14: 31,221,787	P208H	probably benign	Het
Smcr8	T	C	11: 60,778,184	F53L	probably damaging	Het
Tnfsf13b	A	T	8: 10,031,411	I219F	probably damaging	Het
Vmn1r62	T	C	7: 5,676,025	V235A	probably damaging	Het
Vmn2r44	C	A	7: 8,380,104		probably null	Het
Zkscan7	A	G	9: 122,894,827	D287G	probably benign	Het

Other mutations in Far2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Far2	APN	6	148150598	missense	possibly damaging	0.89
IGL01899:Far2	APN	6	148146029	missense	probably benign	0.19
IGL02524:Far2	APN	6	148150658	missense	probably damaging	1.00
IGL02756:Far2	APN	6	148157391	missense	probably damaging	1.00
Galway	UTSW	6	148157482	missense	probably damaging	0.99
PIT4531001:Far2	UTSW	6	148175131	missense	possibly damaging	0.95
R0319:Far2	UTSW	6	148157470	missense	probably damaging	0.96
R0654:Far2	UTSW	6	148175141	missense	possibly damaging	0.64
R1321:Far2	UTSW	6	148173536	splice site	probably benign
R1610:Far2	UTSW	6	148157458	missense	possibly damaging	0.71
R2039:Far2	UTSW	6	148165577	missense	probably benign
R2471:Far2	UTSW	6	148138694	missense	probably damaging	1.00
R3874:Far2	UTSW	6	148150591	missense	probably benign	0.00
R3875:Far2	UTSW	6	148150591	missense	probably benign	0.00
R3974:Far2	UTSW	6	148150754	missense	probably damaging	0.96
R4490:Far2	UTSW	6	148173409	missense	possibly damaging	0.88
R4491:Far2	UTSW	6	148173409	missense	possibly damaging	0.88
R5034:Far2	UTSW	6	148173441	missense	probably benign	0.43
R5421:Far2	UTSW	6	148146192	splice site	probably null
R5673:Far2	UTSW	6	148146104	missense	possibly damaging	0.86
R6092:Far2	UTSW	6	148175083	missense	probably benign	0.00
R6294:Far2	UTSW	6	148157482	missense	probably damaging	0.99
R6325:Far2	UTSW	6	148157497	missense	probably benign	0.30
R6783:Far2	UTSW	6	148150775	splice site	probably null
R7380:Far2	UTSW	6	148180995	missense	unknown
R7403:Far2	UTSW	6	148158977	missense	possibly damaging	0.93
R7484:Far2	UTSW	6	148173913	missense	probably damaging	1.00
R8276:Far2	UTSW	6	148173901	missense	probably benign	0.00
R8709:Far2	UTSW	6	148165635	missense	probably benign	0.00
R8774:Far2	UTSW	6	148146131	missense	probably benign	0.01
R8774-TAIL:Far2	UTSW	6	148146131	missense	probably benign	0.01
R9177:Far2	UTSW	6	148158920	missense	probably benign	0.00
R9268:Far2	UTSW	6	148158920	missense	probably benign	0.00
R9504:Far2	UTSW	6	148157955	missense	probably damaging	0.99
R9583:Far2	UTSW	6	148157936	missense	probably damaging	0.99
R9760:Far2	UTSW	6	148158950	missense	probably damaging	1.00
X0053:Far2	UTSW	6	148165640	missense	probably benign	0.00
Z1088:Far2	UTSW	6	148138658	missense	probably damaging	1.00

Posted On

2014-01-21