Mutagenetix > Incidental Mutation

Incidental Mutation 'R9024:Fads3'

686450

Institutional Source

Beutler Lab

Gene Symbol

Fads3

Ensembl Gene

ENSMUSG00000024664

Gene Name

fatty acid desaturase 3

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9024 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10018933-10037474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10033839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 408 (V408A)

Ref Sequence

ENSEMBL: ENSMUSP00000111659 (fasta)

Gene Model

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

AlphaFold

Q9JJE7

Predicted Effect

probably damaging
Transcript: ENSMUST00000115995
AA Change: V408A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111659
Gene: ENSMUSG00000024664
AA Change: V408A

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	C	A	3: 137,891,923 (GRCm39)	A16S	unknown	Het
Aldh3b1	T	A	19: 3,968,155 (GRCm39)	I335F	probably damaging	Het
Asph	A	T	4: 9,475,025 (GRCm39)	Y650N	probably damaging	Het
Atr	T	C	9: 95,789,416 (GRCm39)	V1524A	possibly damaging	Het
Ccin	A	G	4: 43,983,562 (GRCm39)		probably benign	Het
Cdk15	A	T	1: 59,326,957 (GRCm39)	I213F	probably damaging	Het
Chfr	G	T	5: 110,306,698 (GRCm39)	S481I	probably benign	Het
Coro2a	T	C	4: 46,542,323 (GRCm39)	D350G	probably benign	Het
Ctps1	C	A	4: 120,406,707 (GRCm39)	E350*	probably null	Het
Dctn4	G	A	18: 60,678,894 (GRCm39)		probably null	Het
Epha4	C	A	1: 77,365,169 (GRCm39)	R610L	possibly damaging	Het
Esp4	A	T	17: 40,911,102 (GRCm39)	M1L	unknown	Het
Gm19402	T	A	10: 77,525,805 (GRCm39)	K263*	probably null	Het
Gm26657	G	T	4: 56,740,769 (GRCm39)		probably benign	Het
Hsdl1	A	G	8: 120,290,839 (GRCm39)	V311A	probably benign	Het
Hsp90b1	A	G	10: 86,541,174 (GRCm39)	F16L	possibly damaging	Het
Icmt	T	C	4: 152,385,161 (GRCm39)	C208R	probably damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ipo7	T	A	7: 109,643,943 (GRCm39)		probably null	Het
Kif21a	T	A	15: 90,821,399 (GRCm39)	K1465*	probably null	Het
Klhl9	A	T	4: 88,639,999 (GRCm39)	F81I	probably damaging	Het
Kynu	A	G	2: 43,490,807 (GRCm39)	H170R	possibly damaging	Het
Mmp12	A	G	9: 7,355,444 (GRCm39)	Y397C	probably damaging	Het
Mpped2	T	C	2: 106,614,043 (GRCm39)	F126L	probably benign	Het
Muc2	C	T	7: 141,287,936 (GRCm39)	P236S	probably damaging	Het
Myo10	A	G	15: 25,793,295 (GRCm39)	T1291A	possibly damaging	Het
Myom2	T	C	8: 15,113,936 (GRCm39)	L28P	probably damaging	Het
Nfatc2	T	C	2: 168,328,648 (GRCm39)	*924W	probably null	Het
Nrip1	G	T	16: 76,088,388 (GRCm39)	Y1056*	probably null	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Oxr1	A	G	15: 41,694,518 (GRCm39)	Y20C	probably damaging	Het
P2ry2	T	C	7: 100,647,229 (GRCm39)	T359A	probably damaging	Het
Paxbp1	G	A	16: 90,840,963 (GRCm39)	R94C	possibly damaging	Het
Pbrm1	A	G	14: 30,783,623 (GRCm39)	Y569C	probably damaging	Het
Pkhd1	T	C	1: 20,592,975 (GRCm39)	T1713A	probably benign	Het
Plekha5	A	G	6: 140,370,176 (GRCm39)	S56G	probably benign	Het
Plekhg5	T	C	4: 152,197,118 (GRCm39)	I801T	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pogz	A	T	3: 94,785,543 (GRCm39)	N833Y	probably damaging	Het
Polk	G	T	13: 96,623,340 (GRCm39)	H501N	probably benign	Het
Ptprd	T	C	4: 75,874,567 (GRCm39)	N1043S	probably damaging	Het
Rad18	A	T	6: 112,626,562 (GRCm39)	C448S	probably benign	Het
Rhof	T	A	5: 123,269,963 (GRCm39)	K65*	probably null	Het
Rpa2	T	C	4: 132,499,153 (GRCm39)	V74A	probably damaging	Het
Smarcc1	T	C	9: 110,015,001 (GRCm39)	M522T	probably damaging	Het
Snai2	T	C	16: 14,524,769 (GRCm39)	S92P	probably benign	Het
Srrt	C	A	5: 137,301,291 (GRCm39)	R45L	unknown	Het
Tmem233	T	C	5: 116,221,057 (GRCm39)	Y63C	probably damaging	Het
Tubd1	T	G	11: 86,445,991 (GRCm39)	H210Q	possibly damaging	Het
Usp36	T	C	11: 118,166,983 (GRCm39)	N298S	possibly damaging	Het
Vmn2r63	T	G	7: 42,577,874 (GRCm39)	R221S	probably benign	Het
Vps13b	A	G	15: 35,923,470 (GRCm39)	I3782V	probably damaging	Het
Zfp184	T	A	13: 22,143,128 (GRCm39)	I278N	probably 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
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
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'- CCAGATTGAGCACCAGTGAG -3'
(R):5'- GGAAAGCTCTAGGAAGTCAGTTC -3'

Sequencing Primer
(F):5'- TGAGCACCAGTGAGTGTGGC -3'
(R):5'- AGTCAGTTCTTAGGAAGGGCCC -3'

Posted On

2021-10-11