Mutagenetix > Incidental Mutation

Incidental Mutation 'R0848:Fads1'

77464

Institutional Source

Beutler Lab

Gene Symbol

Fads1

Ensembl Gene

ENSMUSG00000010663

Gene Name

fatty acid desaturase 1

Synonyms

A930006B21Rik, 0710001O03Rik

MMRRC Submission

039027-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0848 (G1)

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

10160252-10174241 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10160429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 5 (P5L)

Ref Sequence

ENSEMBL: ENSMUSP00000010807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010807]

AlphaFold

Q920L1

Predicted Effect

probably benign
Transcript: ENSMUST00000010807
AA Change: P5L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000010807
Gene: ENSMUSG00000010663
AA Change: P5L

Domain	Start	End	E-Value	Type
Cyt-b5	22	97	1.32e-19	SMART
transmembrane domain	134	156	N/A	INTRINSIC
Pfam:FA_desaturase	158	421	7.4e-35	PFAM

Meta Mutation Damage Score

0.0838

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit arachidonic acid deficiency with premature lethality and altered prostaglandin levels. Heterozygous mice exhibit an intermediate phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,114,984 (GRCm39)	H181Q	probably damaging	Het
Abca13	T	A	11: 9,632,011 (GRCm39)	L4977*	probably null	Het
Abca8a	T	A	11: 109,919,016 (GRCm39)	Y1550F	probably damaging	Het
Actr2	C	T	11: 20,022,584 (GRCm39)	E296K	probably benign	Het
Agtpbp1	A	T	13: 59,681,753 (GRCm39)		probably benign	Het
Anks1b	A	C	10: 89,906,987 (GRCm39)	E268A	probably damaging	Het
C1rl	A	G	6: 124,485,465 (GRCm39)	T279A	probably benign	Het
C5ar2	T	C	7: 15,971,526 (GRCm39)	T134A	probably benign	Het
Cdkl3	G	A	11: 51,902,094 (GRCm39)	R101Q	probably damaging	Het
Celsr2	A	T	3: 108,321,654 (GRCm39)	F386Y	probably benign	Het
Chd1	C	T	17: 15,990,503 (GRCm39)	P1685L	probably damaging	Het
Chrne	G	T	11: 70,506,239 (GRCm39)	H402Q	probably benign	Het
Clvs1	A	G	4: 9,282,003 (GRCm39)	D149G	possibly damaging	Het
Cntnap5b	T	C	1: 100,182,888 (GRCm39)	Y620H	probably benign	Het
Col6a1	A	G	10: 76,549,458 (GRCm39)		probably null	Het
Cyp2d26	T	A	15: 82,674,434 (GRCm39)	I483F	probably benign	Het
Dlx6	C	T	6: 6,863,665 (GRCm39)	Q96*	probably null	Het
Dmac2l	A	T	12: 69,788,584 (GRCm39)	H161L	probably benign	Het
Eif1a	T	A	18: 46,741,114 (GRCm39)	N116K	possibly damaging	Het
Epb41l5	A	T	1: 119,477,684 (GRCm39)	C696S	probably benign	Het
Exoc7	A	G	11: 116,186,074 (GRCm39)	S376P	possibly damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gimap7	T	C	6: 48,700,657 (GRCm39)	I81T	probably damaging	Het
Gtf2a1l	T	C	17: 89,001,657 (GRCm39)	V171A	probably damaging	Het
Hax1	A	G	3: 89,902,940 (GRCm39)	S253P	probably damaging	Het
Hsd3b5	A	T	3: 98,526,671 (GRCm39)	D258E	probably damaging	Het
Kcnb1	G	T	2: 166,948,187 (GRCm39)	F220L	probably damaging	Het
Kif1a	T	A	1: 92,947,620 (GRCm39)	Y1708F	probably damaging	Het
Krt14	A	T	11: 100,095,090 (GRCm39)	I379N	probably damaging	Het
Lpxn	A	G	19: 12,781,401 (GRCm39)	I40V	probably benign	Het
Lrp1	C	T	10: 127,389,231 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,809,515 (GRCm39)	R395H	probably benign	Het
Mindy4	G	A	6: 55,295,271 (GRCm39)	W737*	probably null	Het
Mki67	C	A	7: 135,302,772 (GRCm39)	R754L	probably benign	Het
Morf4l1	A	G	9: 89,982,502 (GRCm39)	V144A	probably benign	Het
Mvb12a	T	C	8: 71,998,422 (GRCm39)	S186P	probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Nipal1	A	G	5: 72,825,183 (GRCm39)	N292S	probably damaging	Het
Nqo2	T	G	13: 34,156,461 (GRCm39)		probably null	Het
Or14a256	T	C	7: 86,264,848 (GRCm39)	Y335C	probably damaging	Het
Or2d3b	A	G	7: 106,514,200 (GRCm39)	K265R	probably benign	Het
Or5ak24	A	T	2: 85,260,365 (GRCm39)	N269K	probably benign	Het
Or6c214	C	T	10: 129,591,077 (GRCm39)	V81I	probably benign	Het
Osbpl7	C	A	11: 96,951,350 (GRCm39)	P507Q	probably damaging	Het
Pcdhb1	G	A	18: 37,400,475 (GRCm39)	G809S	probably benign	Het
Pcm1	T	C	8: 41,735,720 (GRCm39)	V846A	probably damaging	Het
Phf3	A	G	1: 30,902,253 (GRCm39)	L20P	probably damaging	Het
Pih1d1	A	G	7: 44,807,041 (GRCm39)	T58A	probably damaging	Het
Plekhn1	A	G	4: 156,308,021 (GRCm39)		probably null	Het
Plvap	A	T	8: 71,959,526 (GRCm39)	L422Q	probably damaging	Het
Polq	C	T	16: 36,882,492 (GRCm39)	A1273V	probably benign	Het
Prelid2	T	A	18: 42,068,289 (GRCm39)	I51F	probably damaging	Het
Ptpn18	G	A	1: 34,501,783 (GRCm39)	D8N	probably damaging	Het
Ptpra	T	A	2: 130,360,911 (GRCm39)	F190Y	probably damaging	Het
Pus7l	A	G	15: 94,438,393 (GRCm39)	S151P	probably benign	Het
Rsph6a	G	A	7: 18,791,595 (GRCm39)	D255N	probably benign	Het
Serpinb6c	A	T	13: 34,083,288 (GRCm39)	V42D	probably damaging	Het
Slc7a13	A	G	4: 19,818,866 (GRCm39)	N22S	probably benign	Het
Snx5	G	A	2: 144,095,726 (GRCm39)	R312C	probably damaging	Het
Stard9	T	C	2: 120,526,304 (GRCm39)	S854P	probably damaging	Het
Syne2	AAGAG	AAGAGAGAG	12: 76,144,733 (GRCm39)		probably null	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tlr12	A	G	4: 128,510,084 (GRCm39)	I722T	probably benign	Het
Tmem101	A	T	11: 102,046,692 (GRCm39)	M59K	possibly damaging	Het
Trim34a	C	T	7: 103,910,331 (GRCm39)	R378C	probably benign	Het
Trim35	T	A	14: 66,546,574 (GRCm39)	M447K	probably benign	Het
Trps1	C	A	15: 50,524,945 (GRCm39)	S704I	possibly damaging	Het
Vmn1r231	T	A	17: 21,110,433 (GRCm39)	S161C	probably damaging	Het
Vps13a	A	C	19: 16,676,261 (GRCm39)	N1237K	probably damaging	Het
Zfp619	G	T	7: 39,185,983 (GRCm39)	C671F	probably damaging	Het

Other mutations in Fads1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01512:Fads1	APN	19	10,160,506 (GRCm39)	missense	probably benign	0.02
IGL01536:Fads1	APN	19	10,171,394 (GRCm39)	missense	probably benign	0.36
IGL02642:Fads1	APN	19	10,163,785 (GRCm39)	missense	probably damaging	1.00
big_belt	UTSW	19	10,170,325 (GRCm39)	nonsense	probably null
teewinot	UTSW	19	10,163,091 (GRCm39)	nonsense	probably null
R0023:Fads1	UTSW	19	10,164,261 (GRCm39)	splice site	probably benign
R0023:Fads1	UTSW	19	10,164,261 (GRCm39)	splice site	probably benign
R0367:Fads1	UTSW	19	10,160,429 (GRCm39)	missense	probably benign	0.12
R0464:Fads1	UTSW	19	10,160,429 (GRCm39)	missense	probably benign	0.12
R0465:Fads1	UTSW	19	10,160,429 (GRCm39)	missense	probably benign	0.12
R0534:Fads1	UTSW	19	10,160,429 (GRCm39)	missense	probably benign	0.12
R1456:Fads1	UTSW	19	10,163,116 (GRCm39)	missense	probably benign	0.06
R1697:Fads1	UTSW	19	10,171,464 (GRCm39)	splice site	probably benign
R5576:Fads1	UTSW	19	10,163,238 (GRCm39)	missense	probably benign	0.00
R5640:Fads1	UTSW	19	10,163,767 (GRCm39)	missense	probably damaging	1.00
R6243:Fads1	UTSW	19	10,163,091 (GRCm39)	nonsense	probably null
R6379:Fads1	UTSW	19	10,160,551 (GRCm39)	missense	probably damaging	1.00
R7593:Fads1	UTSW	19	10,162,361 (GRCm39)	missense	probably damaging	1.00
R7845:Fads1	UTSW	19	10,171,405 (GRCm39)	missense	probably damaging	1.00
R8787:Fads1	UTSW	19	10,170,325 (GRCm39)	nonsense	probably null
R8856:Fads1	UTSW	19	10,170,276 (GRCm39)	missense	probably benign	0.05
R9090:Fads1	UTSW	19	10,163,162 (GRCm39)	missense	probably damaging	1.00
R9271:Fads1	UTSW	19	10,163,162 (GRCm39)	missense	probably damaging	1.00
Z1176:Fads1	UTSW	19	10,171,068 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCTGTCTTTGCTACCCGAGAGAG -3'
(R):5'- CAACCAGCCCTTTGTTTGAGTGTG -3'

Sequencing Primer
(F):5'- ACTCGGCTCAGCCAATG -3'
(R):5'- AGATGCGCCTATTGTCCG -3'

Posted On

2013-10-16