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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0848 (G1)

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

10182888-10196870 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10183065 bp (GRCm38)

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: 23,114,985	H181Q	probably damaging	Het
Abca13	T	A	11: 9,682,011	L4977*	probably null	Het
Abca8a	T	A	11: 110,028,190	Y1550F	probably damaging	Het
Actr2	C	T	11: 20,072,584	E296K	probably benign	Het
Agtpbp1	A	T	13: 59,533,939		probably benign	Het
Anks1b	A	C	10: 90,071,125	E268A	probably damaging	Het
Atp5s	A	T	12: 69,741,810	H161L	probably benign	Het
C1rl	A	G	6: 124,508,506	T279A	probably benign	Het
C5ar2	T	C	7: 16,237,601	T134A	probably benign	Het
Cdkl3	G	A	11: 52,011,267	R101Q	probably damaging	Het
Celsr2	A	T	3: 108,414,338	F386Y	probably benign	Het
Chd1	C	T	17: 15,770,241	P1685L	probably damaging	Het
Chrne	G	T	11: 70,615,413	H402Q	probably benign	Het
Clvs1	A	G	4: 9,282,003	D149G	possibly damaging	Het
Cntnap5b	T	C	1: 100,255,163	Y620H	probably benign	Het
Col6a1	A	G	10: 76,713,624		probably null	Het
Cyp2d26	T	A	15: 82,790,233	I483F	probably benign	Het
Dlx6	C	T	6: 6,863,665	Q96*	probably null	Het
Eif1a	T	A	18: 46,608,047	N116K	possibly damaging	Het
Epb41l5	A	T	1: 119,549,954	C696S	probably benign	Het
Exoc7	A	G	11: 116,295,248	S376P	possibly damaging	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gimap7	T	C	6: 48,723,723	I81T	probably damaging	Het
Gtf2a1l	T	C	17: 88,694,229	V171A	probably damaging	Het
Hax1	A	G	3: 89,995,633	S253P	probably damaging	Het
Hsd3b5	A	T	3: 98,619,355	D258E	probably damaging	Het
Kcnb1	G	T	2: 167,106,267	F220L	probably damaging	Het
Kif1a	T	A	1: 93,019,898	Y1708F	probably damaging	Het
Krt14	A	T	11: 100,204,264	I379N	probably damaging	Het
Lpxn	A	G	19: 12,804,037	I40V	probably benign	Het
Lrp1	C	T	10: 127,553,362		probably null	Het
Lyst	G	A	13: 13,634,930	R395H	probably benign	Het
Mindy4	G	A	6: 55,318,286	W737*	probably null	Het
Mki67	C	A	7: 135,701,043	R754L	probably benign	Het
Morf4l1	A	G	9: 90,100,449	V144A	probably benign	Het
Mvb12a	T	C	8: 71,545,778	S186P	probably benign	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Nipal1	A	G	5: 72,667,840	N292S	probably damaging	Het
Nqo2	T	G	13: 33,972,478		probably null	Het
Olfr1532-ps1	A	G	7: 106,914,993	K265R	probably benign	Het
Olfr294	T	C	7: 86,615,640	Y335C	probably damaging	Het
Olfr807	C	T	10: 129,755,208	V81I	probably benign	Het
Olfr994	A	T	2: 85,430,021	N269K	probably benign	Het
Osbpl7	C	A	11: 97,060,524	P507Q	probably damaging	Het
Pcdhb1	G	A	18: 37,267,422	G809S	probably benign	Het
Pcm1	T	C	8: 41,282,683	V846A	probably damaging	Het
Phf3	A	G	1: 30,863,172	L20P	probably damaging	Het
Pih1d1	A	G	7: 45,157,617	T58A	probably damaging	Het
Plekhn1	A	G	4: 156,223,564		probably null	Het
Plvap	A	T	8: 71,506,882	L422Q	probably damaging	Het
Polq	C	T	16: 37,062,130	A1273V	probably benign	Het
Prelid2	T	A	18: 41,935,224	I51F	probably damaging	Het
Ptpn18	G	A	1: 34,462,702	D8N	probably damaging	Het
Ptpra	T	A	2: 130,518,991	F190Y	probably damaging	Het
Pus7l	A	G	15: 94,540,512	S151P	probably benign	Het
Rsph6a	G	A	7: 19,057,670	D255N	probably benign	Het
Serpinb6c	A	T	13: 33,899,305	V42D	probably damaging	Het
Slc7a13	A	G	4: 19,818,866	N22S	probably benign	Het
Snx5	G	A	2: 144,253,806	R312C	probably damaging	Het
Stard9	T	C	2: 120,695,823	S854P	probably damaging	Het
Syne2	AAGAG	AAGAGAGAG	12: 76,097,959		probably null	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,097,960		probably null	Het
Tlr12	A	G	4: 128,616,291	I722T	probably benign	Het
Tmem101	A	T	11: 102,155,866	M59K	possibly damaging	Het
Trim34a	C	T	7: 104,261,124	R378C	probably benign	Het
Trim35	T	A	14: 66,309,125	M447K	probably benign	Het
Trps1	C	A	15: 50,661,549	S704I	possibly damaging	Het
Vmn1r231	T	A	17: 20,890,171	S161C	probably damaging	Het
Vps13a	A	C	19: 16,698,897	N1237K	probably damaging	Het
Zfp619	G	T	7: 39,536,559	C671F	probably damaging	Het

Other mutations in Fads1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01512:Fads1	APN	19	10183142	missense	probably benign	0.02
IGL01536:Fads1	APN	19	10194030	missense	probably benign	0.36
IGL02642:Fads1	APN	19	10186421	missense	probably damaging	1.00
big_belt	UTSW	19	10192961	nonsense	probably null
teewinot	UTSW	19	10185727	nonsense	probably null
R0023:Fads1	UTSW	19	10186897	splice site	probably benign
R0023:Fads1	UTSW	19	10186897	splice site	probably benign
R0367:Fads1	UTSW	19	10183065	missense	probably benign	0.12
R0464:Fads1	UTSW	19	10183065	missense	probably benign	0.12
R0465:Fads1	UTSW	19	10183065	missense	probably benign	0.12
R0534:Fads1	UTSW	19	10183065	missense	probably benign	0.12
R1456:Fads1	UTSW	19	10185752	missense	probably benign	0.06
R1697:Fads1	UTSW	19	10194100	splice site	probably benign
R5576:Fads1	UTSW	19	10185874	missense	probably benign	0.00
R5640:Fads1	UTSW	19	10186403	missense	probably damaging	1.00
R6243:Fads1	UTSW	19	10185727	nonsense	probably null
R6379:Fads1	UTSW	19	10183187	missense	probably damaging	1.00
R7593:Fads1	UTSW	19	10184997	missense	probably damaging	1.00
R7845:Fads1	UTSW	19	10194041	missense	probably damaging	1.00
R8787:Fads1	UTSW	19	10192961	nonsense	probably null
R8856:Fads1	UTSW	19	10192912	missense	probably benign	0.05
R9090:Fads1	UTSW	19	10185798	missense	probably damaging	1.00
R9271:Fads1	UTSW	19	10185798	missense	probably damaging	1.00
Z1176:Fads1	UTSW	19	10193704	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