Mutagenetix > Incidental Mutation

Incidental Mutation 'R3874:Far2'

276719

Institutional Source

Beutler Lab

Gene Symbol

Far2

Ensembl Gene

ENSMUSG00000030303

Gene Name

fatty acyl CoA reductase 2

Synonyms

Mlstd1

MMRRC Submission

040792-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3874 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148047259-148182758 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 148150591 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 123 (E123K)

Ref Sequence

ENSEMBL: ENSMUSP00000107234 (fasta)

Gene Model

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

AlphaFold

Q7TNT2

Predicted Effect

probably benign
Transcript: ENSMUST00000032443
AA Change: E123K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000032443
Gene: ENSMUSG00000030303
AA Change: E123K

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

probably benign
Transcript: ENSMUST00000111607
AA Change: E123K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000107234
Gene: ENSMUSG00000030303
AA Change: E123K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130213A22Rik	C	A	11: 69,121,475	G26*	probably null	Het
Abca5	T	A	11: 110,310,233	Y447F	probably damaging	Het
Acox2	A	G	14: 8,248,061	I407T	probably benign	Het
Adam8	T	C	7: 139,987,607	N408D	probably damaging	Het
Adgre1	A	T	17: 57,401,925	T39S	probably benign	Het
Akap12	G	A	10: 4,357,590	V1467I	probably benign	Het
Arid1b	T	A	17: 5,336,515		probably null	Het
Atp2c2	A	G	8: 119,735,296	I303V	possibly damaging	Het
Bpifc	C	T	10: 85,991,254	V144I	probably benign	Het
C530008M17Rik	A	G	5: 76,840,892	D30G	probably damaging	Het
Camk4	A	G	18: 33,158,854	E189G	possibly damaging	Het
Casz1	A	G	4: 148,939,589		probably benign	Het
Ccdc134	T	C	15: 82,131,442	V41A	possibly damaging	Het
Chrd	A	T	16: 20,738,910	T753S	probably damaging	Het
Cyb561a3	T	C	19: 10,585,371	V125A	probably benign	Het
D630039A03Rik	T	A	4: 57,910,606	T69S	probably benign	Het
Dchs1	A	G	7: 105,761,635	F1687S	probably damaging	Het
Dlgap4	T	C	2: 156,749,347	S818P	probably benign	Het
Dnah2	A	G	11: 69,429,348	I3965T	probably damaging	Het
Dnaic2	G	T	11: 114,732,955	G15W	probably damaging	Het
Dsg1c	A	G	18: 20,277,052	I526V	probably benign	Het
Gli1	A	T	10: 127,330,219	V1055E	probably damaging	Het
Hand2	G	T	8: 57,321,976	A24S	probably benign	Het
Helb	T	C	10: 120,106,037	I249V	probably benign	Het
Hspa4l	G	A	3: 40,772,642	V492M	probably damaging	Het
Hspg2	T	C	4: 137,539,349	I1916T	probably damaging	Het
Igfals	G	A	17: 24,881,605	V557I	possibly damaging	Het
Itpa	T	G	2: 130,681,010	S176A	probably damaging	Het
Kcnu1	T	A	8: 25,885,317	L353H	probably damaging	Het
Klhl1	A	G	14: 96,518,179	F47L	probably benign	Het
Klhl13	T	C	X: 23,285,176	D21G	probably benign	Het
Krt26	T	C	11: 99,334,744	K304E	probably damaging	Het
Krt9	C	T	11: 100,190,849	V285I	probably damaging	Het
Mansc1	T	C	6: 134,610,183	R344G	possibly damaging	Het
Mier2	G	T	10: 79,541,797	P439T	possibly damaging	Het
Mppe1	T	A	18: 67,225,886		probably null	Het
Nedd4l	G	A	18: 65,167,535	A243T	probably benign	Het
Notch4	T	A	17: 34,578,069	C934*	probably null	Het
Nsmce3	C	T	7: 64,872,168	D251N	probably damaging	Het
Olfr101	T	A	17: 37,299,979	T148S	probably benign	Het
Olfr1156	T	A	2: 87,949,530	R234S	probably damaging	Het
Olfr1310	T	C	2: 112,008,323	T288A	possibly damaging	Het
Olfr139	A	G	11: 74,044,699	C192R	probably damaging	Het
Olfr517	C	T	7: 108,869,128	V9M	probably damaging	Het
Olfr937	A	G	9: 39,060,174	I164T	probably benign	Het
Pdzd7	T	C	19: 45,045,628	T6A	probably benign	Het
Picalm	T	A	7: 90,189,219	F493Y	probably damaging	Het
Prl7d1	A	G	13: 27,716,668	M1T	probably null	Het
Prl8a1	T	C	13: 27,575,458	K199E	possibly damaging	Het
Rims1	C	T	1: 22,428,489	R764H	probably damaging	Het
Rnf17	G	T	14: 56,475,413	R779L	possibly damaging	Het
Rufy2	T	C	10: 62,998,137	L294P	probably damaging	Het
Sgsh	A	G	11: 119,350,947	L111P	probably damaging	Het
Slc22a30	G	T	19: 8,336,849	T491K	probably benign	Het
Slc35b3	T	C	13: 38,943,068	N20D	possibly damaging	Het
Slc5a4a	T	C	10: 76,181,655	F429L	probably benign	Het
Sulf1	T	C	1: 12,817,412	I270T	probably damaging	Het
Tmem51	T	C	4: 142,031,748	T230A	probably damaging	Het
Tnc	T	A	4: 64,008,710	I860F	probably damaging	Het
Trh	A	T	6: 92,243,698	V61E	possibly damaging	Het
Ttn	T	G	2: 76,754,099	T22222P	probably damaging	Het
Uroc1	A	T	6: 90,361,512	K652*	probably null	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vmn2r120	A	T	17: 57,524,954	F278L	probably benign	Het
Vmn2r7	A	G	3: 64,719,611	F86L	possibly damaging	Het
Vmn2r87	A	T	10: 130,479,987	I70K	possibly damaging	Het
Vps13a	C	T	19: 16,744,953	A332T	probably benign	Het
Zfp568	T	A	7: 30,023,396	C589S	probably damaging	Het

Other mutations in Far2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Far2	APN	6	148150598	missense	possibly damaging	0.89
IGL01650:Far2	APN	6	148173487	missense	possibly damaging	0.92
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
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

Predicted Primers

PCR Primer
(F):5'- CTCACAATGTGTCTCAGCCATC -3'
(R):5'- TCTGATCCAACTTACTCCATGGAG -3'

Sequencing Primer
(F):5'- GCCATCTACCTATTACTGAAGTAGG -3'
(R):5'- CCATGGAGTCAATGATCTTTCTTGGC -3'

Posted On

2015-04-06