Mutagenetix > Incidental Mutation

Incidental Mutation 'R5117:Fads3'

392715

Institutional Source

Beutler Lab

Gene Symbol

Fads3

Ensembl Gene

ENSMUSG00000024664

Gene Name

fatty acid desaturase 3

Synonyms

MMRRC Submission

042705-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5117 (G1)

Quality Score

145

Status

Validated

Chromosome

Chromosomal Location

10018933-10037474 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 10019322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115995] [ENSMUST00000144788]

AlphaFold

Q9JJE7

Predicted Effect

probably null
Transcript: ENSMUST00000115995

SMART Domains

Protein: ENSMUSP00000111659
Gene: ENSMUSG00000024664

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
Cyt-b5	27	101	6.21e-16	SMART
Pfam:FA_desaturase	162	423	4.1e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144788

SMART Domains

Protein: ENSMUSP00000121449
Gene: ENSMUSG00000024663

Domain	Start	End	E-Value	Type
Pfam:Sec2p	89	198	4.4e-30	PFAM

Meta Mutation Damage Score

0.9502

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

100% (67/67)

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: Homozygous knockout affects highly unsaturated fatty acid levels in the liver and brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	G	A	9: 124,055,715 (GRCm39)	T403I	probably benign	Het
4921509C19Rik	T	C	2: 151,314,460 (GRCm39)	E406G	probably benign	Het
Abca8b	T	C	11: 109,857,629 (GRCm39)	E641G	probably damaging	Het
Agrn	T	C	4: 156,270,010 (GRCm39)	N49S	probably benign	Het
Cacna1b	A	G	2: 24,622,340 (GRCm39)	S215P	probably damaging	Het
Cacna1g	T	A	11: 94,323,329 (GRCm39)	I1292F	probably damaging	Het
Card14	T	A	11: 119,229,076 (GRCm39)	I662N	probably damaging	Het
Cep135	A	G	5: 76,779,276 (GRCm39)	K762R	probably benign	Het
Ces1b	A	G	8: 93,799,837 (GRCm39)		probably null	Het
Erich6	T	G	3: 58,530,626 (GRCm39)	I448L	probably benign	Het
Fam234a	A	G	17: 26,432,512 (GRCm39)	F546L	probably benign	Het
Fbxl9	T	A	8: 106,039,492 (GRCm39)	R595*	probably null	Het
Gm10717	T	C	9: 3,025,625 (GRCm39)	L70S	probably benign	Het
Gm11787	G	T	4: 3,509,524 (GRCm39)		noncoding transcript	Het
Gm5519	A	G	19: 33,802,471 (GRCm39)	*171W	probably null	Het
Grid2	T	C	6: 63,233,917 (GRCm39)	I26T	probably benign	Het
Hmcn2	T	G	2: 31,348,061 (GRCm39)	C4902W	possibly damaging	Het
Hsp90aa1	T	C	12: 110,661,698 (GRCm39)	N106S	possibly damaging	Het
Il18	A	T	9: 50,492,809 (GRCm39)	N125I	possibly damaging	Het
Ints9	G	T	14: 65,230,540 (GRCm39)	E156*	probably null	Het
Kalrn	T	C	16: 33,853,971 (GRCm39)		probably null	Het
Klkb1	A	T	8: 45,742,149 (GRCm39)	D43E	possibly damaging	Het
Lipo3	A	T	19: 33,536,952 (GRCm39)	M256K	probably benign	Het
Mapk6	C	A	9: 75,305,017 (GRCm39)	M133I	possibly damaging	Het
Med21	T	A	6: 146,548,781 (GRCm39)		probably benign	Het
Myrf	T	A	19: 10,189,857 (GRCm39)	E984V	probably damaging	Het
Naga	A	C	15: 82,221,657 (GRCm39)	M28R	probably damaging	Het
Nphp4	T	G	4: 152,608,689 (GRCm39)		probably null	Het
Nr1h4	T	C	10: 89,314,284 (GRCm39)	N295D	probably damaging	Het
Or10j27	T	C	1: 172,958,484 (GRCm39)	Q100R	possibly damaging	Het
Or13n4	A	T	7: 106,422,869 (GRCm39)	I288N	probably damaging	Het
Or55b3	T	C	7: 102,126,709 (GRCm39)	M123V	probably damaging	Het
Parp9	C	A	16: 35,792,202 (GRCm39)		probably null	Het
Pax4	T	C	6: 28,446,278 (GRCm39)	I72V	probably benign	Het
Pcdh7	A	G	5: 57,879,090 (GRCm39)	I542V	probably benign	Het
Pcdhgb7	C	T	18: 37,885,939 (GRCm39)	R370W	probably damaging	Het
Pik3r1	G	A	13: 101,828,744 (GRCm39)	T18I	probably benign	Het
Ppara	A	G	15: 85,661,962 (GRCm39)	I68V	probably benign	Het
Ptch2	T	A	4: 116,963,146 (GRCm39)	I211N	probably damaging	Het
Senp6	G	A	9: 80,038,028 (GRCm39)	V715M	probably damaging	Het
Serf2	C	T	2: 121,281,184 (GRCm39)	P41L	possibly damaging	Het
Serpina12	T	C	12: 104,004,009 (GRCm39)	I208V	possibly damaging	Het
Serpinf2	T	C	11: 75,323,326 (GRCm39)	D460G	probably benign	Het
Sh3d21	T	C	4: 126,045,665 (GRCm39)	E338G	probably damaging	Het
Slc7a11	T	C	3: 50,333,599 (GRCm39)	D384G	probably damaging	Het
Snx15	A	G	19: 6,174,181 (GRCm39)		probably null	Het
Supt16	A	G	14: 52,420,549 (GRCm39)	F84L	probably damaging	Het
Tamalin	A	G	15: 101,128,418 (GRCm39)	D152G	probably damaging	Het
Thoc2l	A	G	5: 104,668,121 (GRCm39)	Y881C	probably damaging	Het
Tm9sf2	C	A	14: 122,380,913 (GRCm39)	Q169K	probably benign	Het
Trim56	A	T	5: 137,142,832 (GRCm39)	V228E	probably benign	Het
Triqk	T	A	4: 12,980,390 (GRCm39)		probably null	Het
Ttc21a	T	A	9: 119,795,631 (GRCm39)	I1155N	possibly damaging	Het
Ube3b	T	G	5: 114,557,692 (GRCm39)	Y1059D	probably damaging	Het
Vmn2r14	T	C	5: 109,363,961 (GRCm39)	T652A	probably benign	Het
Wdr4	A	G	17: 31,718,798 (GRCm39)	V304A	probably benign	Het
Wwp2	T	C	8: 108,280,694 (GRCm39)	S646P	possibly damaging	Het
Zfand5	T	A	19: 21,257,009 (GRCm39)	S130T	probably benign	Het
Zfp599	A	T	9: 22,161,396 (GRCm39)	Y256*	probably null	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het
Zfyve16	T	A	13: 92,642,197 (GRCm39)	I1209L	possibly damaging	Het

Other mutations in Fads3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Fads3	APN	19	10,029,663 (GRCm39)	missense	probably null	0.98
IGL00422:Fads3	APN	19	10,033,045 (GRCm39)	missense	possibly damaging	0.80
IGL01081:Fads3	APN	19	10,030,366 (GRCm39)	missense	probably benign	0.00
IGL02454:Fads3	APN	19	10,032,483 (GRCm39)	missense	probably damaging	0.97
IGL02477:Fads3	APN	19	10,033,806 (GRCm39)	missense	probably damaging	1.00
R0611:Fads3	UTSW	19	10,019,200 (GRCm39)	missense	probably damaging	1.00
R1169:Fads3	UTSW	19	10,031,463 (GRCm39)	missense	possibly damaging	0.82
R1400:Fads3	UTSW	19	10,033,664 (GRCm39)	splice site	probably null
R1893:Fads3	UTSW	19	10,033,868 (GRCm39)	missense	probably benign
R2508:Fads3	UTSW	19	10,033,818 (GRCm39)	missense	probably damaging	1.00
R3151:Fads3	UTSW	19	10,035,262 (GRCm39)	missense	probably benign	0.01
R4543:Fads3	UTSW	19	10,019,175 (GRCm39)	missense	possibly damaging	0.60
R4766:Fads3	UTSW	19	10,033,384 (GRCm39)	missense	possibly damaging	0.94
R4823:Fads3	UTSW	19	10,019,252 (GRCm39)	missense	probably damaging	0.98
R5846:Fads3	UTSW	19	10,030,397 (GRCm39)	missense	probably null	1.00
R6117:Fads3	UTSW	19	10,031,631 (GRCm39)	missense	probably damaging	1.00
R6225:Fads3	UTSW	19	10,019,202 (GRCm39)	missense	probably benign	0.25
R9024:Fads3	UTSW	19	10,033,839 (GRCm39)	missense	probably damaging	1.00
X0027:Fads3	UTSW	19	10,031,614 (GRCm39)	missense	probably damaging	1.00
Z1176:Fads3	UTSW	19	10,019,171 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- TTGTGTACAGCGGCAATGGG -3'
(R):5'- GAAAGAGACCTCCTTCCCTCAG -3'

Sequencing Primer
(F):5'- CAATGGGCGGTGTCGGG -3'
(R):5'- AGGCTCCATCTCAACTCTGG -3'

Posted On

2016-06-15