Mutagenetix > Incidental Mutation

Incidental Mutation 'R6294:Far2'

508599

Institutional Source

Beutler Lab

Gene Symbol

Far2

Ensembl Gene

ENSMUSG00000030303

Gene Name

fatty acyl CoA reductase 2

Synonyms

Mlstd1

MMRRC Submission

044406-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6294 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

147948914-148084256 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 148058980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 222 (L222Q)

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: L222Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032443
Gene: ENSMUSG00000030303
AA Change: L222Q

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: L222Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107234
Gene: ENSMUSG00000030303
AA Change: L222Q

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

0.9352

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

99% (71/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,631,440 (GRCm39)	H579L	probably benign	Het
Aldh2	G	A	5: 121,710,879 (GRCm39)	Q8*	probably null	Het
Ankdd1a	G	T	9: 65,427,446 (GRCm39)	H10Q	probably benign	Het
Arpp21	A	G	9: 111,956,520 (GRCm39)	F453L	probably damaging	Het
Birc6	C	A	17: 74,996,252 (GRCm39)	D4461E	probably benign	Het
Cacna1b	A	T	2: 24,609,069 (GRCm39)	S411T	possibly damaging	Het
Camk2g	A	G	14: 20,815,017 (GRCm39)	I203T	probably damaging	Het
Cat	A	T	2: 103,290,640 (GRCm39)	C425S	probably benign	Het
Ccdc34	A	G	2: 109,848,496 (GRCm39)	D95G	probably benign	Het
Clca4b	T	C	3: 144,630,946 (GRCm39)	S305G	probably null	Het
Cul7	T	C	17: 46,974,074 (GRCm39)	I1453T	probably benign	Het
Dlg1	T	A	16: 31,656,942 (GRCm39)	I612N	probably damaging	Het
Dync2h1	T	G	9: 7,084,986 (GRCm39)	K561T	probably benign	Het
Erbin	T	C	13: 103,993,564 (GRCm39)	T359A	probably benign	Het
Fbxw17	A	G	13: 50,577,839 (GRCm39)	E114G	probably benign	Het
Fryl	A	T	5: 73,349,102 (GRCm39)		probably benign	Het
Ggn	A	G	7: 28,873,273 (GRCm39)	D666G	possibly damaging	Het
Hal	G	A	10: 93,350,005 (GRCm39)		probably null	Het
Htt	A	G	5: 34,979,170 (GRCm39)	D851G	probably benign	Het
Ighv14-2	A	T	12: 113,958,218 (GRCm39)	D74E	probably benign	Het
Igkv5-43	G	A	6: 69,800,426 (GRCm39)	S87L	probably damaging	Het
Klhl29	A	T	12: 5,133,995 (GRCm39)	F720I	probably damaging	Het
Klk1b8	T	A	7: 43,602,196 (GRCm39)	Y43N	probably damaging	Het
Krtap20-1	T	A	16: 88,880,989 (GRCm39)	Y7N	unknown	Het
Lama4	T	A	10: 38,951,466 (GRCm39)	F1070L	probably damaging	Het
Map4	A	G	9: 109,831,814 (GRCm39)	E98G	possibly damaging	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mki67	A	G	7: 135,306,319 (GRCm39)	M581T	probably benign	Het
Mtss2	T	A	8: 111,453,960 (GRCm39)	N43K	possibly damaging	Het
Mylk3	T	A	8: 86,077,012 (GRCm39)	I475F	probably damaging	Het
Nat14	C	T	7: 4,927,073 (GRCm39)	R82*	probably null	Het
Nckap1	T	C	2: 80,371,858 (GRCm39)	N324S	probably benign	Het
Nemp1	C	T	10: 127,530,391 (GRCm39)	T281M	possibly damaging	Het
Nrg3	A	T	14: 38,119,196 (GRCm39)	H425Q	probably benign	Het
Omd	T	A	13: 49,743,467 (GRCm39)	N172K	probably damaging	Het
Or10c1	T	C	17: 37,522,517 (GRCm39)	T76A	probably benign	Het
Or12d12	T	A	17: 37,610,444 (GRCm39)	T290S	probably benign	Het
Or4f62	A	G	2: 111,986,364 (GRCm39)	I23V	probably benign	Het
Or52a33	A	G	7: 103,288,798 (GRCm39)	M183T	probably damaging	Het
Or52r1c	A	T	7: 102,734,874 (GRCm39)	I45F	probably benign	Het
Or5b123	T	C	19: 13,596,730 (GRCm39)	V25A	probably benign	Het
Orc1	T	C	4: 108,447,867 (GRCm39)	I38T	probably benign	Het
Oxct1	A	G	15: 4,172,304 (GRCm39)	T457A	possibly damaging	Het
Pcdh17	A	T	14: 84,715,108 (GRCm39)	K924N	probably benign	Het
Pkhd1l1	A	T	15: 44,433,424 (GRCm39)	I3435F	probably damaging	Het
Psg20	C	A	7: 18,416,604 (GRCm39)	V171F	probably damaging	Het
Rab11fip2	A	T	19: 59,925,531 (GRCm39)	S87T	probably damaging	Het
Rabgap1l	T	C	1: 160,059,419 (GRCm39)	T237A	probably benign	Het
Rasgrp1	A	T	2: 117,122,273 (GRCm39)	Y372*	probably null	Het
Rell1	G	T	5: 64,097,048 (GRCm39)		probably benign	Het
Rps14	A	G	18: 60,910,033 (GRCm39)	K61E	possibly damaging	Het
Rtl6	A	G	15: 84,441,321 (GRCm39)	V25A	possibly damaging	Het
Ryr2	G	T	13: 11,894,382 (GRCm39)	S185R	probably damaging	Het
Slc10a2	C	T	8: 5,141,621 (GRCm39)		probably null	Het
Slc14a1	T	A	18: 78,153,273 (GRCm39)		probably null	Het
Smad2	A	T	18: 76,422,233 (GRCm39)	N215I	probably benign	Het
Smchd1	A	T	17: 71,677,922 (GRCm39)	N1473K	probably benign	Het
Spag9	A	G	11: 93,984,311 (GRCm39)		probably null	Het
Stk31	A	C	6: 49,394,278 (GRCm39)	R213S	probably benign	Het
Tmod4	A	T	3: 95,035,617 (GRCm39)	Q255L	probably benign	Het
Tnpo1	T	A	13: 99,027,282 (GRCm39)	Y3F	probably benign	Het
Tom1l1	A	C	11: 90,552,587 (GRCm39)	Y206*	probably null	Het
Tulp2	A	G	7: 45,164,116 (GRCm39)	K36E	probably damaging	Het
Tulp4	C	T	17: 6,252,094 (GRCm39)	R282C	probably damaging	Het
Unc5b	A	T	10: 60,614,110 (GRCm39)	N246K	possibly damaging	Het
Ush2a	C	G	1: 188,268,567 (GRCm39)	S1674R	possibly damaging	Het
Vmn1r224	T	C	17: 20,640,083 (GRCm39)	I220T	probably benign	Het
Vmn1r7	G	C	6: 57,001,404 (GRCm39)	N285K	probably benign	Het
Vmn2r83	C	T	10: 79,313,688 (GRCm39)	P99S	probably damaging	Het
Zbtb38	A	G	9: 96,569,282 (GRCm39)	F601L	probably benign	Het
Zc3h3	A	T	15: 75,681,417 (GRCm39)	S555T	possibly 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
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
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'- GGCAGAAGTTTCATTTGACTGG -3'
(R):5'- TGTGCACACCCATTTGTAATAC -3'

Sequencing Primer
(F):5'- CAGAAGTTTCATTTGACTGGCTGTG -3'
(R):5'- GCACACCCATTTGTAATACTAATTGG -3'

Posted On

2018-03-15