Mutagenetix > Incidental Mutation

Incidental Mutation 'R7484:Far2'

579993

Institutional Source

Beutler Lab

Gene Symbol

Far2

Ensembl Gene

ENSMUSG00000030303

Gene Name

fatty acyl CoA reductase 2

Synonyms

Mlstd1

MMRRC Submission

045558-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7484 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

147948914-148084256 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 148075411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 424 (D424N)

Ref Sequence

ENSEMBL: ENSMUSP00000032443 (fasta)

Gene Model

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

AlphaFold

Q7TNT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000032443
AA Change: D424N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032443
Gene: ENSMUSG00000030303
AA Change: D424N

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: D424N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107234
Gene: ENSMUSG00000030303
AA Change: D424N

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

0.8069

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	G	4: 144,504,521 (GRCm39)	L210P	probably damaging	Het
Acacb	G	A	5: 114,356,923 (GRCm39)	V1285I	probably damaging	Het
Acly	A	T	11: 100,386,789 (GRCm39)	I591N	probably damaging	Het
Acr	T	A	15: 89,457,427 (GRCm39)	V225E	probably damaging	Het
Actr8	A	G	14: 29,714,925 (GRCm39)	D580G	probably damaging	Het
Adamts12	C	A	15: 11,345,734 (GRCm39)	Q1592K	probably benign	Het
Aire	T	C	10: 77,878,404 (GRCm39)	E138G	probably damaging	Het
Apob	C	T	12: 8,056,884 (GRCm39)	Q1789*	probably null	Het
Cbx5	A	C	15: 103,114,256 (GRCm39)		probably null	Het
Cd300lb	A	T	11: 114,819,345 (GRCm39)	W95R	probably damaging	Het
Cdc16	A	G	8: 13,827,605 (GRCm39)	T504A	probably benign	Het
Cenpf	A	G	1: 189,389,018 (GRCm39)	S1605P	probably damaging	Het
Ckap2l	A	G	2: 129,114,455 (GRCm39)	V596A	possibly damaging	Het
Cntn1	T	C	15: 92,151,922 (GRCm39)	W454R	probably benign	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Csf2rb	A	G	15: 78,223,099 (GRCm39)	T104A	possibly damaging	Het
Cyp4a12b	A	G	4: 115,289,760 (GRCm39)	D209G	possibly damaging	Het
Ddx23	T	C	15: 98,546,570 (GRCm39)	E533G	probably damaging	Het
Dscaml1	A	G	9: 45,660,744 (GRCm39)		probably null	Het
Eif3l	T	G	15: 78,968,336 (GRCm39)	C202G	probably benign	Het
Ephx4	T	G	5: 107,577,612 (GRCm39)	M312R	probably damaging	Het
Erich6	A	T	3: 58,534,112 (GRCm39)		probably null	Het
Fat1	C	A	8: 45,489,221 (GRCm39)	N3497K	probably damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Fyb2	A	T	4: 104,870,499 (GRCm39)	H700L	probably benign	Het
Gm8356	T	A	14: 17,691,282 (GRCm39)	M128L	probably benign	Het
Golim4	G	T	3: 75,805,442 (GRCm39)		probably null	Het
Grm1	T	G	10: 10,622,403 (GRCm39)	D440A	probably benign	Het
Gtf2a1	A	G	12: 91,529,747 (GRCm39)	V322A	probably benign	Het
Hid1	T	C	11: 115,243,407 (GRCm39)		probably null	Het
Igfals	G	A	17: 25,098,962 (GRCm39)	V18M	possibly damaging	Het
Klk1b24	G	T	7: 43,839,688 (GRCm39)		probably null	Het
Lmbr1	T	C	5: 29,551,850 (GRCm39)		probably benign	Het
Lrrc40	T	C	3: 157,746,194 (GRCm39)	S90P	probably benign	Het
Mapk9	T	C	11: 49,763,663 (GRCm39)	Y185H	probably damaging	Het
Marveld2	C	T	13: 100,748,068 (GRCm39)	G337D	probably damaging	Het
Mga	G	T	2: 119,776,710 (GRCm39)	R1539L	probably damaging	Het
Mllt6	T	A	11: 97,563,442 (GRCm39)	S342T	probably benign	Het
Ms4a6c	T	C	19: 11,449,893 (GRCm39)		probably null	Het
Muc16	T	A	9: 18,558,064 (GRCm39)	H2743L	unknown	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Or10ag60	T	C	2: 87,438,281 (GRCm39)	F183S	probably damaging	Het
Or2l13	A	G	16: 19,305,753 (GRCm39)	H55R	possibly damaging	Het
Plcd3	T	G	11: 102,962,545 (GRCm39)	K635N	probably damaging	Het
Prkch	T	A	12: 73,632,301 (GRCm39)		probably null	Het
Rb1cc1	T	C	1: 6,344,441 (GRCm39)	V1570A	probably damaging	Het
Rp1	T	C	1: 4,415,704 (GRCm39)	N1803D	probably benign	Het
Rufy3	T	A	5: 88,746,331 (GRCm39)	V72E	probably benign	Het
Secisbp2l	G	A	2: 125,613,452 (GRCm39)	Q181*	probably null	Het
Sgcb	A	G	5: 73,797,188 (GRCm39)	F191L	possibly damaging	Het
Sgsh	T	A	11: 119,237,183 (GRCm39)	D477V	probably damaging	Het
Shoc1	A	T	4: 59,062,286 (GRCm39)	V924E	probably damaging	Het
Slc22a28	C	A	19: 8,048,492 (GRCm39)	S385I	probably benign	Het
Slc26a3	T	C	12: 31,497,787 (GRCm39)	V47A	probably benign	Het
Slco2a1	A	T	9: 102,945,185 (GRCm39)	I187F	probably damaging	Het
Sltm	T	C	9: 70,481,179 (GRCm39)	S344P	unknown	Het
Sort1	A	G	3: 108,246,141 (GRCm39)	T373A	probably damaging	Het
Stab1	A	G	14: 30,882,274 (GRCm39)	F474L	probably benign	Het
Tbc1d5	G	T	17: 51,224,573 (GRCm39)	A326E	possibly damaging	Het
Tcstv4	A	T	13: 120,770,017 (GRCm39)	K112N	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdr70	G	A	15: 7,951,562 (GRCm39)	T425I	probably benign	Het
Zfp30	T	C	7: 29,492,231 (GRCm39)	Y243H	probably benign	Het
Zfp974	A	T	7: 27,611,559 (GRCm39)	N55K	possibly damaging	Het
Zftraf1	A	G	15: 76,530,435 (GRCm39)	L295P	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
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
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'- AACTGTGATTGGACCTTCATTGC -3'
(R):5'- CAGCCTCATAGTAGCTGCTG -3'

Sequencing Primer
(F):5'- GACCTTCATTGCTGTGTGGCC -3'
(R):5'- GCCTCATAGTAGCTGCTGCATAAATG -3'

Posted On

2019-10-07