Mutagenetix > Incidental Mutation

Incidental Mutation 'R3151:Fads3'

264436

Institutional Source

Beutler Lab

Gene Symbol

Fads3

Ensembl Gene

ENSMUSG00000024664

Gene Name

fatty acid desaturase 3

Synonyms

MMRRC Submission

040603-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3151 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

10018933-10037474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 10035262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 438 (S438A)

Ref Sequence

ENSEMBL: ENSMUSP00000111659 (fasta)

Gene Model

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

AlphaFold

Q9JJE7

Predicted Effect

probably benign
Transcript: ENSMUST00000115995
AA Change: S438A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000111659
Gene: ENSMUSG00000024664
AA Change: S438A

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

Meta Mutation Damage Score

0.3536

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (61/62)

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
Adam5	A	G	8: 25,271,647 (GRCm39)	Y587H	probably damaging	Het
Ahnak	T	C	19: 8,987,308 (GRCm39)	V2864A	probably benign	Het
Ano2	G	A	6: 125,990,280 (GRCm39)		probably null	Het
Arl5c	A	G	11: 97,883,159 (GRCm39)	I147T	probably damaging	Het
Asap2	T	A	12: 21,274,378 (GRCm39)	F369I	probably damaging	Het
Atg4a-ps	A	G	3: 103,553,228 (GRCm39)	F38L	probably benign	Het
B230217C12Rik	TGTGTCG	TG	11: 97,733,014 (GRCm39)		probably null	Het
Cacna1s	A	T	1: 136,033,532 (GRCm39)	Y1003F	probably damaging	Het
Ccdc178	A	T	18: 21,944,618 (GRCm39)	M847K	probably benign	Het
Clca4b	T	C	3: 144,621,272 (GRCm39)	K601E	probably benign	Het
Cnih4	A	G	1: 180,981,292 (GRCm39)		probably benign	Het
Cnpy3	A	T	17: 47,058,452 (GRCm39)	V57E	probably damaging	Het
Creb3l1	T	A	2: 91,832,378 (GRCm39)	E48V	probably damaging	Het
Dus3l	T	A	17: 57,075,899 (GRCm39)	F482I	probably benign	Het
Dync1i2	A	G	2: 71,064,060 (GRCm39)		probably benign	Het
Echdc1	A	G	10: 29,198,360 (GRCm39)	T102A	possibly damaging	Het
Elf1	G	A	14: 79,804,755 (GRCm39)		probably null	Het
Elp1	T	C	4: 56,770,985 (GRCm39)	Y986C	probably benign	Het
Ep400	G	T	5: 110,851,435 (GRCm39)	T1349N	unknown	Het
Eps15	T	A	4: 109,223,419 (GRCm39)	D458E	probably benign	Het
F2rl2	G	A	13: 95,837,638 (GRCm39)	V228I	probably benign	Het
Fcgbp	T	A	7: 27,816,665 (GRCm39)	C2376S	probably damaging	Het
Fndc3b	A	G	3: 27,473,652 (GRCm39)	S1138P	possibly damaging	Het
Ggt5	T	C	10: 75,445,076 (GRCm39)	I361T	probably benign	Het
Gpr158	C	T	2: 21,581,771 (GRCm39)	R417W	possibly damaging	Het
Gria1	A	G	11: 57,174,388 (GRCm39)	I626V	probably damaging	Het
Gys2	T	C	6: 142,402,059 (GRCm39)	E260G	probably benign	Het
Ido2	T	A	8: 25,023,776 (GRCm39)	Y354F	possibly damaging	Het
Igkv6-23	A	G	6: 70,237,543 (GRCm39)	L66P	probably benign	Het
Kremen1	T	C	11: 5,145,012 (GRCm39)	K455E	probably damaging	Het
Krtap19-9b	T	C	16: 88,729,096 (GRCm39)	S2G	unknown	Het
Magea1	A	T	X: 153,872,093 (GRCm39)	M211K	probably benign	Het
Mtx2	G	A	2: 74,677,634 (GRCm39)		probably null	Het
Nlrp14	G	A	7: 106,781,759 (GRCm39)	V319I	probably benign	Het
Nphs1	A	T	7: 30,159,665 (GRCm39)	T33S	probably benign	Het
Or12j2	A	T	7: 139,916,243 (GRCm39)	H156L	probably benign	Het
Or2t6	T	A	14: 14,175,203 (GRCm38)	N293I	probably damaging	Het
Or3a1c	A	T	11: 74,046,466 (GRCm39)	H162L	probably damaging	Het
P2rx7	A	G	5: 122,819,329 (GRCm39)	T584A	probably benign	Het
Pclo	A	G	5: 14,571,692 (GRCm39)	Q359R	probably damaging	Het
Phtf2	T	C	5: 20,970,802 (GRCm39)	E147G	probably damaging	Het
Ptges2	G	A	2: 32,286,488 (GRCm39)	A68T	probably benign	Het
Rab33b	A	T	3: 51,401,069 (GRCm39)	N181I	possibly damaging	Het
Rnf213	A	T	11: 119,359,718 (GRCm39)	R4370S	probably benign	Het
Rpf1	G	A	3: 146,213,390 (GRCm39)	R254W	probably damaging	Het
Serpinb7	A	T	1: 107,363,081 (GRCm39)	R82*	probably null	Het
Setbp1	A	G	18: 78,900,650 (GRCm39)	S1006P	probably damaging	Het
Spata31d1a	T	C	13: 59,849,180 (GRCm39)	S983G	probably benign	Het
Ssr2	T	C	3: 88,487,323 (GRCm39)	I46T	probably damaging	Het
Ssx2ip	G	A	3: 146,124,138 (GRCm39)	G51D	probably benign	Het
Synj1	A	T	16: 90,757,514 (GRCm39)	L878H	probably damaging	Het
Th	G	A	7: 142,447,812 (GRCm39)	Q329*	probably null	Het
Tln2	C	T	9: 67,237,829 (GRCm39)		probably null	Het
Trio	A	G	15: 27,805,862 (GRCm39)	L542P	probably damaging	Het
Trp53bp2	A	G	1: 182,256,525 (GRCm39)	T32A	probably damaging	Het
Vmn1r40	A	T	6: 89,691,548 (GRCm39)	T122S	probably benign	Het
Vmn2r121	C	T	X: 123,040,849 (GRCm39)	C494Y	probably benign	Het
Vmn2r51	A	T	7: 9,833,968 (GRCm39)	Y357N	probably damaging	Het
Vmn2r55	G	T	7: 12,404,634 (GRCm39)	S256R	probably benign	Het
Vps8	A	G	16: 21,261,123 (GRCm39)	T88A	probably benign	Het
Zfp977	A	C	7: 42,229,870 (GRCm39)	N218K	probably benign	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
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'- TGCAGTCCAGATTCCACTCTG -3'
(R):5'- TTGCTGACCAGAAAATGCTGAG -3'

Sequencing Primer
(F):5'- GGTTAATGAGTACCTGGCCTCAC -3'
(R):5'- CTGACCAGAAAATGCTGAGGACTG -3'

Posted On

2015-02-05