Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02756:Far2'

306455

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02756

Quality Score

Status

Chromosome

Chromosomal Location

147948914-148084256 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148058889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 192 (I192F)

Ref Sequence

ENSEMBL: ENSMUSP00000107234 (fasta)

Gene Model

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

AlphaFold

Q7TNT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000032443
AA Change: I192F

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

SMART Domains

Protein: ENSMUSP00000032443
Gene: ENSMUSG00000030303
AA Change: I192F

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 damaging
Transcript: ENSMUST00000111607
AA Change: I192F

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

SMART Domains

Protein: ENSMUSP00000107234
Gene: ENSMUSG00000030303
AA Change: I192F

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 87,000,970 (GRCm39)	D54V	probably damaging	Het
Adamts18	C	A	8: 114,440,976 (GRCm39)		probably benign	Het
Angptl3	T	A	4: 98,919,399 (GRCm39)	L53Q	probably damaging	Het
Apc	A	G	18: 34,447,588 (GRCm39)	T1461A	probably damaging	Het
Arl11	T	A	14: 61,548,535 (GRCm39)	V115D	probably damaging	Het
Cabp4	C	A	19: 4,188,560 (GRCm39)	V173L	possibly damaging	Het
Casq1	T	A	1: 172,042,672 (GRCm39)	D230V	probably damaging	Het
Cdc42bpa	A	G	1: 179,936,824 (GRCm39)	I821V	possibly damaging	Het
Cfap65	T	C	1: 74,944,239 (GRCm39)	Y1494C	probably benign	Het
Chd1	T	A	17: 15,951,069 (GRCm39)	S215T	probably damaging	Het
Csf2rb2	T	C	15: 78,169,049 (GRCm39)	E593G	possibly damaging	Het
Cstf1	A	G	2: 172,217,795 (GRCm39)	D136G	probably damaging	Het
Ddx19b	T	C	8: 111,737,910 (GRCm39)		probably benign	Het
Dido1	A	T	2: 180,303,716 (GRCm39)	L1396Q	probably benign	Het
Ermn	A	G	2: 57,937,824 (GRCm39)	I263T	probably damaging	Het
F12	T	A	13: 55,568,880 (GRCm39)	Q294L	possibly damaging	Het
Fshb	T	A	2: 106,889,218 (GRCm39)	I29F	probably damaging	Het
Gcgr	T	A	11: 120,427,811 (GRCm39)	Y251N	probably benign	Het
Gpr158	A	G	2: 21,831,890 (GRCm39)	I997V	possibly damaging	Het
Gprc5d	A	G	6: 135,093,613 (GRCm39)	V98A	probably damaging	Het
H2-T23	T	C	17: 36,342,580 (GRCm39)	E186G	probably damaging	Het
Khdrbs3	C	T	15: 68,896,685 (GRCm39)	T115I	probably benign	Het
Kifap3	C	T	1: 163,689,597 (GRCm39)	T527M	probably damaging	Het
Mfsd2a	C	T	4: 122,842,332 (GRCm39)	A512T	probably benign	Het
Mmp9	A	G	2: 164,791,235 (GRCm39)	D135G	probably benign	Het
Mylk	T	C	16: 34,784,016 (GRCm39)	V1394A	probably benign	Het
Nek9	A	C	12: 85,358,110 (GRCm39)		probably null	Het
Or51q1c	T	C	7: 103,652,866 (GRCm39)	I128T	probably damaging	Het
Or8k16	T	C	2: 85,520,402 (GRCm39)	S210P	probably damaging	Het
P2rx2	T	A	5: 110,490,276 (GRCm39)		probably benign	Het
P4htm	A	G	9: 108,456,977 (GRCm39)	L410P	probably damaging	Het
Pik3c2a	A	T	7: 115,963,748 (GRCm39)	W921R	probably benign	Het
Pnisr	T	C	4: 21,862,175 (GRCm39)	F288L	probably benign	Het
Ppp4r3a	C	T	12: 101,024,582 (GRCm39)		probably null	Het
Prss34	T	C	17: 25,518,251 (GRCm39)	S144P	probably damaging	Het
Qrsl1	T	C	10: 43,758,110 (GRCm39)	T328A	probably benign	Het
Rab33b	A	T	3: 51,391,945 (GRCm39)	T65S	probably damaging	Het
Rdh8	A	G	9: 20,736,637 (GRCm39)	S235G	possibly damaging	Het
Rrp12	T	C	19: 41,884,500 (GRCm39)	K6R	probably benign	Het
Sec24a	T	C	11: 51,587,560 (GRCm39)	D1025G	probably benign	Het
Sgo2a	T	G	1: 58,055,509 (GRCm39)	N564K	probably damaging	Het
Slc43a3	A	T	2: 84,774,612 (GRCm39)	M130L	probably benign	Het
Soat1	T	C	1: 156,274,145 (GRCm39)	I89V	probably benign	Het
St3gal5	A	G	6: 72,126,157 (GRCm39)	D307G	probably null	Het
Stxbp3-ps	C	T	19: 9,535,193 (GRCm39)		noncoding transcript	Het
Tacr2	A	G	10: 62,097,469 (GRCm39)		probably benign	Het
Tg	C	T	15: 66,606,435 (GRCm39)	T193I	probably benign	Het
Tnik	A	G	3: 28,596,179 (GRCm39)	T191A	probably damaging	Het
Trim27	T	C	13: 21,374,256 (GRCm39)		probably benign	Het
Usf2	A	T	7: 30,646,417 (GRCm39)	C134*	probably null	Het
Usp14	A	G	18: 10,001,769 (GRCm39)		probably null	Het
Usp47	T	C	7: 111,692,270 (GRCm39)	S911P	possibly damaging	Het
Vmn1r73	T	A	7: 11,490,574 (GRCm39)	S131T	possibly damaging	Het
Vmn2r80	T	C	10: 79,030,145 (GRCm39)	I657T	probably damaging	Het
Zfp935	A	T	13: 62,602,701 (GRCm39)	C166*	probably null	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
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
R5421:Far2	UTSW	6	148,047,690 (GRCm39)	splice site	probably null
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

Posted On

2015-04-16