Mutagenetix > Incidental Mutation

Incidental Mutation 'R0367:Fads1'

65577

Institutional Source

Beutler Lab

Gene Symbol

Fads1

Ensembl Gene

ENSMUSG00000010663

Gene Name

fatty acid desaturase 1

Synonyms

A930006B21Rik, 0710001O03Rik

MMRRC Submission

038573-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0367 (G1)

Quality Score

129

Status

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: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (60/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,049,961 (GRCm39)	S12P	probably damaging	Het
Alx4	T	A	2: 93,498,953 (GRCm39)	D228E	probably damaging	Het
Antxr2	T	C	5: 98,177,455 (GRCm39)	E71G	probably benign	Het
Arhgap19	C	A	19: 41,790,417 (GRCm39)	G17V	probably benign	Het
C8a	A	C	4: 104,719,791 (GRCm39)		probably null	Het
Ccne2	T	A	4: 11,201,426 (GRCm39)		probably benign	Het
Cdc42bpg	G	A	19: 6,361,425 (GRCm39)	C317Y	probably damaging	Het
Cend1	C	A	7: 141,007,808 (GRCm39)	R4L	probably damaging	Het
Cfap44	T	C	16: 44,253,839 (GRCm39)		probably null	Het
Cpt1c	T	C	7: 44,608,999 (GRCm39)	N774S	probably benign	Het
Csmd1	C	T	8: 15,967,270 (GRCm39)	D3198N	probably damaging	Het
Dapk2	C	T	9: 66,176,168 (GRCm39)	S323F	probably damaging	Het
Ddx60	T	G	8: 62,470,783 (GRCm39)	I1425R	possibly damaging	Het
Edem1	T	A	6: 108,823,713 (GRCm39)	Y370N	probably damaging	Het
Elp5	A	G	11: 69,865,967 (GRCm39)	V103A	probably benign	Het
Fat1	A	G	8: 45,477,350 (GRCm39)	D2132G	probably damaging	Het
Fat2	A	T	11: 55,182,919 (GRCm39)		probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gp2	C	T	7: 119,053,791 (GRCm39)	D57N	probably damaging	Het
Gpr161	T	C	1: 165,144,805 (GRCm39)		probably benign	Het
Gstcd	G	A	3: 132,692,138 (GRCm39)		probably benign	Het
Hipk3	A	T	2: 104,261,594 (GRCm39)	C980*	probably null	Het
Htr2a	A	T	14: 74,879,649 (GRCm39)	I93L	probably damaging	Het
Itpr2	T	G	6: 146,135,506 (GRCm39)	K1775N	probably damaging	Het
Kcnt1	G	A	2: 25,797,640 (GRCm39)	V864I	probably damaging	Het
Kcnt2	A	T	1: 140,278,963 (GRCm39)	Y38F	probably damaging	Het
Limch1	G	A	5: 67,015,297 (GRCm39)		probably null	Het
Lmtk2	C	T	5: 144,111,103 (GRCm39)	R608C	possibly damaging	Het
Loxhd1	C	T	18: 77,513,453 (GRCm39)		probably benign	Het
Lpin2	A	T	17: 71,522,017 (GRCm39)	E17V	probably damaging	Het
Lrrc34	A	T	3: 30,684,142 (GRCm39)	F342I	probably benign	Het
Lyzl6	A	G	11: 103,527,578 (GRCm39)		probably null	Het
Map3k4	A	C	17: 12,476,928 (GRCm39)		probably benign	Het
Mocs3	C	T	2: 168,073,602 (GRCm39)	P350S	probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Or1ad8	A	G	11: 50,897,904 (GRCm39)	Y35C	probably damaging	Het
Or4c52	A	C	2: 89,846,116 (GRCm39)	I281L	probably damaging	Het
Or7e168	G	T	9: 19,719,839 (GRCm39)	S75I	probably damaging	Het
Pcare	G	T	17: 72,057,471 (GRCm39)	F735L	probably damaging	Het
Pdzrn4	A	G	15: 92,655,538 (GRCm39)	E477G	possibly damaging	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rims2	G	T	15: 39,326,011 (GRCm39)		probably null	Het
Samd4b	C	T	7: 28,122,873 (GRCm39)	A62T	probably damaging	Het
Scamp1	T	C	13: 94,347,088 (GRCm39)	N192S	probably benign	Het
Scnn1g	T	C	7: 121,345,802 (GRCm39)		probably benign	Het
Setd1a	T	G	7: 127,387,358 (GRCm39)		probably benign	Het
Setdb1	A	G	3: 95,257,192 (GRCm39)		probably benign	Het
Slc2a7	T	C	4: 150,250,823 (GRCm39)	S415P	probably benign	Het
Sp140l2	G	T	1: 85,247,824 (GRCm39)		probably benign	Het
Strip2	A	T	6: 29,937,650 (GRCm39)	Y526F	possibly damaging	Het
Styxl2	T	A	1: 165,928,332 (GRCm39)	T427S	probably benign	Het
Syne2	A	G	12: 75,926,951 (GRCm39)	D69G	probably damaging	Het
Syt13	C	A	2: 92,745,596 (GRCm39)	A22E	probably benign	Het
Tm9sf2	T	C	14: 122,392,780 (GRCm39)	F432S	probably benign	Het
Vmn2r49	A	T	7: 9,710,357 (GRCm39)	W792R	probably damaging	Het
Zfp292	T	C	4: 34,808,227 (GRCm39)	S1606G	probably benign	Het
Zfp518a	A	T	19: 40,900,665 (GRCm39)	H198L	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
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
R0848: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

2013-08-08