Mutagenetix > Incidental Mutation

Incidental Mutation 'R5421:Far2'

426563

Institutional Source

Beutler Lab

Gene Symbol

Far2

Ensembl Gene

ENSMUSG00000030303

Gene Name

fatty acyl CoA reductase 2

Synonyms

Mlstd1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5421 (G1)

Quality Score

179

Status

Not validated

Chromosome

Chromosomal Location

147948914-148084256 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 148047690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107234 (fasta)

Gene Model

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

AlphaFold

Q7TNT2

Predicted Effect

probably null
Transcript: ENSMUST00000032443

SMART Domains

Protein: ENSMUSP00000032443
Gene: ENSMUSG00000030303

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 null
Transcript: ENSMUST00000111607

SMART Domains

Protein: ENSMUSP00000107234
Gene: ENSMUSG00000030303

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

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	T	15: 74,421,876 (GRCm39)	Q882L	probably damaging	Het
Afdn	T	C	17: 14,052,668 (GRCm39)	V525A	probably benign	Het
AI987944	T	C	7: 41,024,200 (GRCm39)	T263A	probably benign	Het
Aldh1l2	T	C	10: 83,363,271 (GRCm39)	S31G	probably damaging	Het
Asxl1	T	C	2: 153,241,504 (GRCm39)	S685P	probably benign	Het
Blnk	C	A	19: 40,956,967 (GRCm39)	V47F	probably damaging	Het
Bmp4	T	A	14: 46,623,355 (GRCm39)	M64L	probably damaging	Het
Bmpr2	T	A	1: 59,909,577 (GRCm39)	V1017E	possibly damaging	Het
C1ra	C	T	6: 124,499,749 (GRCm39)	P645L	probably benign	Het
Cadm2	A	T	16: 66,568,513 (GRCm39)	C248*	probably null	Het
Cdk6	T	C	5: 3,523,120 (GRCm39)	V180A	probably damaging	Het
Colec12	A	T	18: 9,858,580 (GRCm39)	R454S	probably damaging	Het
Dennd3	T	C	15: 73,438,964 (GRCm39)	S1111P	probably benign	Het
Dmxl1	T	C	18: 49,996,186 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,326,462 (GRCm39)	T3613I	probably damaging	Het
Elp6	A	G	9: 110,143,132 (GRCm39)	Q115R	probably benign	Het
Enpp1	A	G	10: 24,545,655 (GRCm39)	Y262H	probably damaging	Het
Flnb	C	T	14: 7,926,494 (GRCm38)	T1846I	probably damaging	Het
Folr2	C	T	7: 101,489,851 (GRCm39)	R139H	probably benign	Het
Fxn	A	T	19: 24,254,649 (GRCm39)		probably null	Het
Galnt13	A	C	2: 54,747,908 (GRCm39)	N263T	probably damaging	Het
Gje1	G	A	10: 14,592,428 (GRCm39)	S118L	probably damaging	Het
Htr5a	G	T	5: 28,055,985 (GRCm39)	W325C	possibly damaging	Het
Itga4	T	A	2: 79,146,385 (GRCm39)	Y772*	probably null	Het
Kif12	T	C	4: 63,089,665 (GRCm39)	S59G	probably benign	Het
Kifc3	C	T	8: 95,836,473 (GRCm39)	R96Q	probably damaging	Het
Klrd1	T	C	6: 129,575,406 (GRCm39)	Y191H	probably damaging	Het
Ndst3	A	T	3: 123,428,008 (GRCm39)		probably null	Het
Nek1	A	C	8: 61,459,711 (GRCm39)	R6S	possibly damaging	Het
Or4b13	G	A	2: 90,083,089 (GRCm39)	T81I	probably benign	Het
Or5p68	G	C	7: 107,946,182 (GRCm39)	A2G	probably benign	Het
Or6k8-ps1	C	T	1: 173,979,861 (GRCm39)	R260*	probably null	Het
Palld	C	T	8: 61,969,584 (GRCm39)	E1005K	probably damaging	Het
Ppp2r1a	T	A	17: 21,176,968 (GRCm39)	Y169N	probably benign	Het
Rad50	T	C	11: 53,565,773 (GRCm39)	D960G	probably benign	Het
Rad51ap2	A	T	12: 11,509,368 (GRCm39)	K915*	probably null	Het
Rasal2	T	C	1: 157,126,711 (GRCm39)	K109R	probably benign	Het
Rc3h1	G	A	1: 160,779,400 (GRCm39)		probably null	Het
Rnf6	C	T	5: 146,147,339 (GRCm39)	V560I	probably benign	Het
Samd8	A	G	14: 21,842,563 (GRCm39)	D295G	probably damaging	Het
Scart1	T	C	7: 139,803,813 (GRCm39)	L337P	probably damaging	Het
Serpinb2	T	C	1: 107,451,581 (GRCm39)	Y245H	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc28a3	A	T	13: 58,722,079 (GRCm39)	F268L	possibly damaging	Het
Slc7a14	T	C	3: 31,278,346 (GRCm39)	T420A	probably damaging	Het
Speer4f2	A	T	5: 17,579,356 (GRCm39)	T52S	possibly damaging	Het
Spta1	A	G	1: 174,043,095 (GRCm39)	N1414D	probably damaging	Het
Sptbn5	A	G	2: 119,911,261 (GRCm39)		noncoding transcript	Het
Syt9	T	C	7: 107,024,563 (GRCm39)	V152A	probably benign	Het
Thoc2l	A	T	5: 104,666,261 (GRCm39)	N261I	probably benign	Het
Tln1	G	A	4: 43,533,609 (GRCm39)	A2315V	possibly damaging	Het
Tox	C	A	4: 6,842,409 (GRCm39)	M40I	possibly damaging	Het
Ucp1	G	A	8: 84,017,320 (GRCm39)	A37T	probably benign	Het
Vapa	A	G	17: 65,902,031 (GRCm39)	V33A	possibly damaging	Het
Vmn2r110	A	G	17: 20,803,882 (GRCm39)	L231S	probably damaging	Het
Vmn2r15	C	T	5: 109,434,401 (GRCm39)	A768T	probably damaging	Het
Vmn2r86	T	C	10: 130,282,805 (GRCm39)	T604A	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wnk1	A	G	6: 119,929,779 (GRCm39)	V1246A	probably damaging	Het
Wwc1	C	T	11: 35,801,123 (GRCm39)	E105K	possibly damaging	Het
Wwc1	T	G	11: 35,766,890 (GRCm39)	D455A	possibly damaging	Het
Zfp426	G	A	9: 20,382,015 (GRCm39)	A309V	probably damaging	Het
Zfp626	T	A	7: 27,517,335 (GRCm39)	N105K	probably damaging	Het

Other mutations in Far2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Far2	APN	6	148,052,096 (GRCm39)	missense	possibly damaging	0.89
IGL01650:Far2	APN	6	148,074,985 (GRCm39)	missense	possibly damaging	0.92
IGL01899:Far2	APN	6	148,047,527 (GRCm39)	missense	probably benign	0.19
IGL02524:Far2	APN	6	148,052,156 (GRCm39)	missense	probably damaging	1.00
IGL02756:Far2	APN	6	148,058,889 (GRCm39)	missense	probably damaging	1.00
Galway	UTSW	6	148,058,980 (GRCm39)	missense	probably damaging	0.99
PIT4531001:Far2	UTSW	6	148,076,629 (GRCm39)	missense	possibly damaging	0.95
R0319:Far2	UTSW	6	148,058,968 (GRCm39)	missense	probably damaging	0.96
R0654:Far2	UTSW	6	148,076,639 (GRCm39)	missense	possibly damaging	0.64
R1321:Far2	UTSW	6	148,075,034 (GRCm39)	splice site	probably benign
R1610:Far2	UTSW	6	148,058,956 (GRCm39)	missense	possibly damaging	0.71
R2039:Far2	UTSW	6	148,067,075 (GRCm39)	missense	probably benign
R2471:Far2	UTSW	6	148,040,192 (GRCm39)	missense	probably damaging	1.00
R3874:Far2	UTSW	6	148,052,089 (GRCm39)	missense	probably benign	0.00
R3875:Far2	UTSW	6	148,052,089 (GRCm39)	missense	probably benign	0.00
R3974:Far2	UTSW	6	148,052,252 (GRCm39)	missense	probably damaging	0.96
R4490:Far2	UTSW	6	148,074,907 (GRCm39)	missense	possibly damaging	0.88
R4491:Far2	UTSW	6	148,074,907 (GRCm39)	missense	possibly damaging	0.88
R5034:Far2	UTSW	6	148,074,939 (GRCm39)	missense	probably benign	0.43
R5673:Far2	UTSW	6	148,047,602 (GRCm39)	missense	possibly damaging	0.86
R6092:Far2	UTSW	6	148,076,581 (GRCm39)	missense	probably benign	0.00
R6294:Far2	UTSW	6	148,058,980 (GRCm39)	missense	probably damaging	0.99
R6325:Far2	UTSW	6	148,058,995 (GRCm39)	missense	probably benign	0.30
R6783:Far2	UTSW	6	148,052,273 (GRCm39)	splice site	probably null
R7380:Far2	UTSW	6	148,082,493 (GRCm39)	missense	unknown
R7403:Far2	UTSW	6	148,060,475 (GRCm39)	missense	possibly damaging	0.93
R7484:Far2	UTSW	6	148,075,411 (GRCm39)	missense	probably damaging	1.00
R8276:Far2	UTSW	6	148,075,399 (GRCm39)	missense	probably benign	0.00
R8709:Far2	UTSW	6	148,067,133 (GRCm39)	missense	probably benign	0.00
R8774:Far2	UTSW	6	148,047,629 (GRCm39)	missense	probably benign	0.01
R8774-TAIL:Far2	UTSW	6	148,047,629 (GRCm39)	missense	probably benign	0.01
R9177:Far2	UTSW	6	148,060,418 (GRCm39)	missense	probably benign	0.00
R9268:Far2	UTSW	6	148,060,418 (GRCm39)	missense	probably benign	0.00
R9504:Far2	UTSW	6	148,059,453 (GRCm39)	missense	probably damaging	0.99
R9583:Far2	UTSW	6	148,059,434 (GRCm39)	missense	probably damaging	0.99
R9760:Far2	UTSW	6	148,060,448 (GRCm39)	missense	probably damaging	1.00
X0053:Far2	UTSW	6	148,067,138 (GRCm39)	missense	probably benign	0.00
Z1088:Far2	UTSW	6	148,040,156 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACTTGGCATGTGGATTTC -3'
(R):5'- ACGCTGGGATATGGAGACTTC -3'

Sequencing Primer
(F):5'- CTGTTTCAGCTGTTTGAGAAAGTC -3'
(R):5'- CATTACAGATGGTTGTGAGCCACC -3'

Posted On

2016-09-01