Mutagenetix > Incidental Mutation

Incidental Mutation 'R1400:Fads3'

160358

Institutional Source

Beutler Lab

Gene Symbol

Fads3

Ensembl Gene

ENSMUSG00000024664

Gene Name

fatty acid desaturase 3

Synonyms

MMRRC Submission

039462-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1400 (G1)

Quality Score

157

Status

Not validated

Chromosome

Chromosomal Location

10018933-10037474 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 10033664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111659 (fasta)

Gene Model

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

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 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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.8%

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: 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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	C	17: 41,191,195 (GRCm39)	E78G	probably damaging	Het
Acsf2	T	C	11: 94,461,142 (GRCm39)	I345V	probably benign	Het
Akap11	T	A	14: 78,751,402 (GRCm39)	K328N	probably damaging	Het
Aoc1	T	A	6: 48,883,217 (GRCm39)	Y364*	probably null	Het
Aoc1	A	T	6: 48,883,645 (GRCm39)	Q507L	probably benign	Het
Atp6v1c2	T	C	12: 17,339,131 (GRCm39)	T207A	probably benign	Het
Atr	C	A	9: 95,744,901 (GRCm39)	Q73K	probably benign	Het
Cage1	A	G	13: 38,216,400 (GRCm39)	S17P	possibly damaging	Het
Cfap44	A	T	16: 44,241,575 (GRCm39)	I649F	probably benign	Het
Cops4	A	G	5: 100,681,412 (GRCm39)	K200R	probably damaging	Het
Crygd	A	G	1: 65,102,367 (GRCm39)	S32P	probably damaging	Het
Cyp3a11	A	G	5: 145,799,299 (GRCm39)	I296T	probably damaging	Het
Fbn2	T	C	18: 58,213,265 (GRCm39)	E974G	possibly damaging	Het
Gcgr	A	G	11: 120,425,812 (GRCm39)	H45R	probably benign	Het
Gcn1	T	C	5: 115,752,220 (GRCm39)	I2112T	probably damaging	Het
Gm43302	A	T	5: 105,422,622 (GRCm39)	I470N	probably damaging	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Krt13	C	A	11: 100,012,110 (GRCm39)	G71V	probably damaging	Het
Las1l	T	C	X: 94,990,506 (GRCm39)	T390A	possibly damaging	Het
Lifr	T	A	15: 7,220,346 (GRCm39)	V992E	probably benign	Het
Mbd5	T	C	2: 49,164,788 (GRCm39)		probably null	Het
Mzf1	C	A	7: 12,786,698 (GRCm39)	R124L	possibly damaging	Het
Ndst3	A	G	3: 123,350,477 (GRCm39)	F636S	probably damaging	Het
Necab1	T	C	4: 14,975,185 (GRCm39)	D232G	possibly damaging	Het
Nlrp4e	A	T	7: 23,021,085 (GRCm39)	E524V	possibly damaging	Het
Nxf3	T	A	X: 134,976,794 (GRCm39)	T349S	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or4c12	T	A	2: 89,773,886 (GRCm39)	H191L	possibly damaging	Het
Or4n5	A	T	14: 50,133,148 (GRCm39)	I37K	possibly damaging	Het
Or7g29	A	G	9: 19,286,358 (GRCm39)	V273A	probably damaging	Het
Or9g19	T	C	2: 85,600,477 (GRCm39)	C111R	possibly damaging	Het
Plscr1l1	G	T	9: 92,233,180 (GRCm39)	C25F	probably benign	Het
Ppm1e	T	A	11: 87,122,592 (GRCm39)	N455I	probably damaging	Het
Prkag2	G	A	5: 25,078,916 (GRCm39)	T158I	probably damaging	Het
Ptpn18	T	C	1: 34,502,587 (GRCm39)		probably null	Het
Rai14	T	G	15: 10,571,634 (GRCm39)	K936N	probably damaging	Het
Rasgrf2	A	G	13: 92,035,808 (GRCm39)	L1077P	probably damaging	Het
Rgn	C	A	X: 20,416,696 (GRCm39)	Q27K	probably benign	Het
Ryr2	C	T	13: 11,609,962 (GRCm39)	S723N	probably benign	Het
Scamp1	A	G	13: 94,361,455 (GRCm39)	F142L	possibly damaging	Het
Selenon	A	G	4: 134,278,829 (GRCm39)	V67A	probably benign	Het
Slc5a5	T	C	8: 71,342,079 (GRCm39)	I292V	possibly damaging	Het
Smarca2	C	A	19: 26,654,140 (GRCm39)	T775K	probably damaging	Het
Stab1	C	T	14: 30,861,787 (GRCm39)	V2437I	possibly damaging	Het
Tas2r143	C	T	6: 42,377,317 (GRCm39)	A49V	probably benign	Het
Tlr7	T	A	X: 166,090,845 (GRCm39)	N214Y	probably damaging	Het
Unc13a	C	A	8: 72,103,865 (GRCm39)	D856Y	probably damaging	Het
Upp2	T	C	2: 58,680,118 (GRCm39)	Y263H	probably damaging	Het
Vill	T	C	9: 118,892,415 (GRCm39)	S349P	probably benign	Het
Zfp644	T	C	5: 106,785,336 (GRCm39)		probably null	Het
Zfp664	T	C	5: 124,963,217 (GRCm39)	C204R	unknown	Het
Zfp729b	A	G	13: 67,740,913 (GRCm39)	Y451H	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
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
R5117:Fads3	UTSW	19	10,019,322 (GRCm39)	critical splice donor site	probably null
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'- TCGTGTGGATCACGCAGATGAAC -3'
(R):5'- GTGAGGAAAGGCTTCACCTCGTAG -3'

Sequencing Primer
(F):5'- CAAGCTCTCAGGTAGGAACTG -3'
(R):5'- AAAGGCTTCACCTCGTAGTGTAG -3'

Posted On

2014-03-14