Mutagenetix > Incidental Mutation

Incidental Mutation 'R6767:Fasn'

543594

Institutional Source

Beutler Lab

Gene Symbol

Fasn

Ensembl Gene

ENSMUSG00000025153

Gene Name

fatty acid synthase

Synonyms

A630082H08Rik, FAS

MMRRC Submission

044883-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6767 (G1)

Quality Score

70.0074

Status

Validated

Chromosome

Chromosomal Location

120696672-120715373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120708313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 651 (I651V)

Ref Sequence

ENSEMBL: ENSMUSP00000145585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055655] [ENSMUST00000206589]

AlphaFold

P19096

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055655
AA Change: I651V

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000052872
Gene: ENSMUSG00000025153
AA Change: I651V

Domain	Start	End	E-Value	Type
Pfam:ketoacyl-synt	1	239	6.8e-73	PFAM
Pfam:Ketoacyl-synt_C	243	360	3.7e-38	PFAM
Pfam:KAsynt_C_assoc	362	474	8.2e-46	PFAM
Pfam:Acyl_transf_1	493	810	9.5e-115	PFAM
Pfam:PS-DH	853	1169	9.9e-24	PFAM
low complexity region	1175	1204	N/A	INTRINSIC
Pfam:Methyltransf_12	1238	1337	2e-9	PFAM
PKS_ER	1532	1847	1.44e-147	SMART
PKS_KR	1878	2059	2.33e-42	SMART
Pfam:PP-binding	2119	2185	1.1e-10	PFAM
Pfam:Thioesterase	2235	2494	1.6e-62	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206589
AA Change: I651V

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.2047

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted mutation of this locus has implicated its product in embryogenesis as all homozygotes and most heterozygotes die prior to birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	G	A	8: 44,079,951 (GRCm39)	T91I	probably damaging	Het
Ak7	A	G	12: 105,732,866 (GRCm39)	N537D	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Atp8a2	A	G	14: 60,284,171 (GRCm39)	F47S	probably damaging	Het
Cadps	T	A	14: 12,550,888 (GRCm38)	T449S	probably damaging	Het
Ccdc33	C	G	9: 57,940,527 (GRCm39)	Q489H	possibly damaging	Het
Cd163	T	G	6: 124,281,738 (GRCm39)	S14A	possibly damaging	Het
Cemip	G	A	7: 83,647,832 (GRCm39)	L83F	probably damaging	Het
Chrd	C	T	16: 20,557,376 (GRCm39)	P665L	probably benign	Het
Cib4	T	A	5: 30,691,589 (GRCm39)	H44L	probably benign	Het
Clic1	T	A	17: 35,272,029 (GRCm39)	L99Q	probably benign	Het
Cnst	C	T	1: 179,437,519 (GRCm39)	T361I	possibly damaging	Het
Dnah6	C	A	6: 73,110,591 (GRCm39)	V1613L	probably benign	Het
Dnajb8	T	C	6: 88,199,634 (GRCm39)	S57P	probably damaging	Het
Dyrk3	T	C	1: 131,057,327 (GRCm39)	H282R	probably damaging	Het
Gas6	A	G	8: 13,515,784 (GRCm39)	S663P	probably damaging	Het
Gbp8	T	C	5: 105,166,478 (GRCm39)	M284V	probably benign	Het
Gm12695	T	C	4: 96,650,933 (GRCm39)		probably null	Het
Gm6034	T	A	17: 36,354,023 (GRCm39)	M1K	probably null	Het
Gm9376	A	G	14: 118,504,648 (GRCm39)	T27A	unknown	Het
Grid2	A	G	6: 63,907,999 (GRCm39)	D213G	probably benign	Het
Gsdma3	A	T	11: 98,528,710 (GRCm39)	D388V	possibly damaging	Het
H4c2	T	A	13: 23,941,005 (GRCm39)	M1K	probably null	Het
Hdac9	T	A	12: 34,337,528 (GRCm39)	H716L	probably damaging	Het
Hivep1	T	C	13: 42,308,203 (GRCm39)	S148P	probably damaging	Het
Kctd1	T	C	18: 15,195,232 (GRCm39)	T464A	possibly damaging	Het
Kera	A	G	10: 97,445,034 (GRCm39)	D131G	possibly damaging	Het
Kif2c	C	T	4: 117,035,385 (GRCm39)	R21Q	probably benign	Het
Luc7l3	G	T	11: 94,183,779 (GRCm39)	D453E	probably damaging	Het
Mrpl9	A	G	3: 94,357,528 (GRCm39)		probably benign	Het
Mtss1	T	C	15: 58,825,430 (GRCm39)	S257G	probably benign	Het
N4bp2	T	C	5: 65,974,530 (GRCm39)	F1467L	probably damaging	Het
Naa25	T	C	5: 121,577,928 (GRCm39)	V945A	probably damaging	Het
Nrg1	T	C	8: 32,407,923 (GRCm39)	I103M	probably damaging	Het
Or2w1b	C	T	13: 21,300,227 (GRCm39)	R122C	probably benign	Het
Orm3	C	T	4: 63,274,531 (GRCm39)	T32I	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Plch1	A	T	3: 63,662,765 (GRCm39)	M246K	probably damaging	Het
Pld4	A	C	12: 112,730,549 (GRCm39)	D144A	possibly damaging	Het
Prelp	C	A	1: 133,840,448 (GRCm39)	V345L	probably benign	Het
Rnf121	A	G	7: 101,672,619 (GRCm39)	F238L	probably damaging	Het
Rnf40	A	G	7: 127,195,757 (GRCm39)	K667R	possibly damaging	Het
Scgb1b12	A	T	7: 32,033,920 (GRCm39)	N60I	probably damaging	Het
Serpina3n	T	G	12: 104,375,321 (GRCm39)	V131G	probably benign	Het
Slc22a21	T	C	11: 53,870,328 (GRCm39)	Y119C	probably damaging	Het
Slc22a28	A	G	19: 8,094,409 (GRCm39)	F204S	probably damaging	Het
Smc6	T	A	12: 11,321,821 (GRCm39)	D29E	possibly damaging	Het
Smgc	T	A	15: 91,725,601 (GRCm39)	F40Y	possibly damaging	Het
Sorcs3	G	T	19: 48,702,010 (GRCm39)	L630F	probably damaging	Het
Sphk1	A	G	11: 116,426,982 (GRCm39)	K306E	possibly damaging	Het
Spmip2	A	T	3: 79,337,330 (GRCm39)	D46V	probably benign	Het
Spsb1	C	T	4: 149,991,301 (GRCm39)	G89D	probably damaging	Het
Stat4	G	T	1: 52,115,742 (GRCm39)	M227I	probably benign	Het
Syngr4	A	G	7: 45,536,915 (GRCm39)	V116A	possibly damaging	Het
Tacc1	T	C	8: 25,730,816 (GRCm39)	M1V	probably null	Het
Tcf7l1	T	G	6: 72,608,275 (GRCm39)	K355Q	probably damaging	Het
Tmem192	T	C	8: 65,416,888 (GRCm39)	S36P	probably damaging	Het
Top3a	G	T	11: 60,641,579 (GRCm39)	N368K	possibly damaging	Het
Tpk1	T	A	6: 43,323,727 (GRCm39)	I241F	possibly damaging	Het
Trappc10	A	G	10: 78,029,345 (GRCm39)	I1064T	possibly damaging	Het
Vmn1r18	T	A	6: 57,367,206 (GRCm39)	K116M	probably damaging	Het
Vmn2r40	A	T	7: 8,923,139 (GRCm39)	H407Q	unknown	Het
Vmn2r91	T	A	17: 18,327,807 (GRCm39)	L467H	probably damaging	Het
Wdr59	G	T	8: 112,202,733 (GRCm39)	S603R	probably damaging	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zfp324	A	C	7: 12,704,527 (GRCm39)	K74N	probably null	Het
Zfyve16	A	G	13: 92,644,707 (GRCm39)	L1165P	probably damaging	Het

Other mutations in Fasn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Fasn	APN	11	120,711,365 (GRCm39)	missense	probably damaging	1.00
IGL01014:Fasn	APN	11	120,708,055 (GRCm39)	missense	probably damaging	0.99
IGL01131:Fasn	APN	11	120,705,445 (GRCm39)	missense	probably benign	0.01
IGL01603:Fasn	APN	11	120,706,891 (GRCm39)	missense	probably damaging	0.99
IGL01606:Fasn	APN	11	120,699,849 (GRCm39)	critical splice donor site	probably null
IGL01897:Fasn	APN	11	120,698,765 (GRCm39)	missense	probably damaging	1.00
IGL01899:Fasn	APN	11	120,710,975 (GRCm39)	splice site	probably benign
IGL01987:Fasn	APN	11	120,708,899 (GRCm39)	missense	probably damaging	1.00
IGL02103:Fasn	APN	11	120,702,762 (GRCm39)	missense	probably damaging	1.00
IGL02212:Fasn	APN	11	120,698,729 (GRCm39)	missense	probably damaging	1.00
IGL02294:Fasn	APN	11	120,701,102 (GRCm39)	missense	probably damaging	0.98
IGL02336:Fasn	APN	11	120,704,562 (GRCm39)	missense	possibly damaging	0.48
IGL02417:Fasn	APN	11	120,711,166 (GRCm39)	missense	probably damaging	1.00
IGL02452:Fasn	APN	11	120,699,006 (GRCm39)	missense	probably benign	0.00
IGL02559:Fasn	APN	11	120,699,892 (GRCm39)	missense	possibly damaging	0.51
IGL02724:Fasn	APN	11	120,700,659 (GRCm39)	missense	probably benign	0.41
IGL02862:Fasn	APN	11	120,709,805 (GRCm39)	missense	possibly damaging	0.89
IGL02947:Fasn	APN	11	120,706,502 (GRCm39)	missense	probably damaging	0.99
IGL03025:Fasn	APN	11	120,708,974 (GRCm39)	missense	probably benign	0.01
IGL03131:Fasn	APN	11	120,701,550 (GRCm39)	missense	possibly damaging	0.93
IGL03157:Fasn	APN	11	120,698,735 (GRCm39)	missense	probably benign	0.12
IGL03182:Fasn	APN	11	120,703,552 (GRCm39)	missense	probably damaging	1.00
IGL03370:Fasn	APN	11	120,703,621 (GRCm39)	missense	possibly damaging	0.95
BB007:Fasn	UTSW	11	120,700,061 (GRCm39)	missense	probably benign
BB017:Fasn	UTSW	11	120,700,061 (GRCm39)	missense	probably benign
R0019:Fasn	UTSW	11	120,698,824 (GRCm39)	splice site	probably benign
R0019:Fasn	UTSW	11	120,698,824 (GRCm39)	splice site	probably benign
R0243:Fasn	UTSW	11	120,706,141 (GRCm39)	missense	probably benign	0.00
R0304:Fasn	UTSW	11	120,710,762 (GRCm39)	missense	possibly damaging	0.85
R0389:Fasn	UTSW	11	120,707,008 (GRCm39)	missense	probably damaging	1.00
R0449:Fasn	UTSW	11	120,701,894 (GRCm39)	missense	probably benign
R0626:Fasn	UTSW	11	120,702,751 (GRCm39)	missense	probably damaging	0.99
R1037:Fasn	UTSW	11	120,700,277 (GRCm39)	missense	probably benign
R1061:Fasn	UTSW	11	120,713,008 (GRCm39)	splice site	probably null
R1109:Fasn	UTSW	11	120,703,150 (GRCm39)	missense	possibly damaging	0.77
R1467:Fasn	UTSW	11	120,701,866 (GRCm39)	missense	probably benign	0.07
R1467:Fasn	UTSW	11	120,701,866 (GRCm39)	missense	probably benign	0.07
R1498:Fasn	UTSW	11	120,706,245 (GRCm39)	missense	probably damaging	0.98
R1552:Fasn	UTSW	11	120,709,384 (GRCm39)	missense	probably damaging	1.00
R1568:Fasn	UTSW	11	120,704,075 (GRCm39)	missense	possibly damaging	0.78
R1624:Fasn	UTSW	11	120,703,937 (GRCm39)	missense	probably damaging	1.00
R1774:Fasn	UTSW	11	120,707,997 (GRCm39)	missense	probably damaging	1.00
R1826:Fasn	UTSW	11	120,699,325 (GRCm39)	splice site	probably benign
R1846:Fasn	UTSW	11	120,704,133 (GRCm39)	missense	probably benign	0.00
R2298:Fasn	UTSW	11	120,704,642 (GRCm39)	missense	possibly damaging	0.78
R2513:Fasn	UTSW	11	120,705,574 (GRCm39)	missense	probably damaging	1.00
R3001:Fasn	UTSW	11	120,700,671 (GRCm39)	missense	probably benign
R3002:Fasn	UTSW	11	120,700,671 (GRCm39)	missense	probably benign
R3154:Fasn	UTSW	11	120,698,765 (GRCm39)	missense	probably damaging	1.00
R3434:Fasn	UTSW	11	120,713,599 (GRCm39)	missense	probably damaging	0.99
R4794:Fasn	UTSW	11	120,702,121 (GRCm39)	missense	probably benign	0.36
R4840:Fasn	UTSW	11	120,703,885 (GRCm39)	missense	possibly damaging	0.83
R4863:Fasn	UTSW	11	120,699,654 (GRCm39)	missense	probably damaging	1.00
R4876:Fasn	UTSW	11	120,703,138 (GRCm39)	missense	probably damaging	1.00
R4914:Fasn	UTSW	11	120,707,472 (GRCm39)	missense	probably benign	0.39
R4915:Fasn	UTSW	11	120,707,472 (GRCm39)	missense	probably benign	0.39
R4916:Fasn	UTSW	11	120,707,472 (GRCm39)	missense	probably benign	0.39
R4918:Fasn	UTSW	11	120,707,472 (GRCm39)	missense	probably benign	0.39
R4936:Fasn	UTSW	11	120,706,911 (GRCm39)	missense	probably damaging	1.00
R5025:Fasn	UTSW	11	120,702,734 (GRCm39)	missense	probably benign	0.00
R5092:Fasn	UTSW	11	120,705,862 (GRCm39)	missense	probably benign	0.00
R5120:Fasn	UTSW	11	120,702,217 (GRCm39)	missense	probably benign	0.22
R5175:Fasn	UTSW	11	120,707,195 (GRCm39)	missense	probably benign	0.14
R5183:Fasn	UTSW	11	120,699,708 (GRCm39)	missense	probably benign	0.44
R5506:Fasn	UTSW	11	120,700,336 (GRCm39)	missense	probably benign	0.26
R5557:Fasn	UTSW	11	120,703,252 (GRCm39)	missense	probably benign	0.10
R5614:Fasn	UTSW	11	120,704,154 (GRCm39)	missense	probably benign
R5728:Fasn	UTSW	11	120,704,339 (GRCm39)	missense	probably benign	0.06
R5838:Fasn	UTSW	11	120,706,950 (GRCm39)	missense	probably damaging	0.98
R5959:Fasn	UTSW	11	120,699,390 (GRCm39)	missense	probably damaging	0.99
R6029:Fasn	UTSW	11	120,711,735 (GRCm39)	missense	probably damaging	1.00
R6134:Fasn	UTSW	11	120,713,012 (GRCm39)	missense	probably benign	0.05
R6335:Fasn	UTSW	11	120,706,185 (GRCm39)	missense	probably damaging	0.96
R6452:Fasn	UTSW	11	120,706,237 (GRCm39)	missense	probably damaging	1.00
R6627:Fasn	UTSW	11	120,709,753 (GRCm39)	missense	probably benign	0.10
R6742:Fasn	UTSW	11	120,701,279 (GRCm39)	missense	probably damaging	0.96
R6927:Fasn	UTSW	11	120,699,115 (GRCm39)	missense	probably benign	0.03
R6976:Fasn	UTSW	11	120,710,693 (GRCm39)	missense	probably damaging	1.00
R7092:Fasn	UTSW	11	120,710,946 (GRCm39)	missense	possibly damaging	0.56
R7157:Fasn	UTSW	11	120,701,291 (GRCm39)	nonsense	probably null
R7373:Fasn	UTSW	11	120,704,802 (GRCm39)	missense	possibly damaging	0.81
R7575:Fasn	UTSW	11	120,703,513 (GRCm39)	missense	possibly damaging	0.93
R7652:Fasn	UTSW	11	120,707,154 (GRCm39)	missense	probably damaging	0.97
R7670:Fasn	UTSW	11	120,704,245 (GRCm39)	missense	probably damaging	1.00
R7806:Fasn	UTSW	11	120,700,821 (GRCm39)	missense	probably benign	0.00
R7930:Fasn	UTSW	11	120,700,061 (GRCm39)	missense	probably benign
R8007:Fasn	UTSW	11	120,700,353 (GRCm39)	missense	probably benign
R8012:Fasn	UTSW	11	120,702,428 (GRCm39)	missense	probably damaging	1.00
R8185:Fasn	UTSW	11	120,702,969 (GRCm39)	missense	probably benign	0.42
R8557:Fasn	UTSW	11	120,706,610 (GRCm39)	missense	probably benign	0.23
R8711:Fasn	UTSW	11	120,709,944 (GRCm39)	missense	possibly damaging	0.93
R8772:Fasn	UTSW	11	120,711,362 (GRCm39)	missense	probably benign
R8856:Fasn	UTSW	11	120,708,979 (GRCm39)	missense	possibly damaging	0.58
R8875:Fasn	UTSW	11	120,703,224 (GRCm39)	missense	possibly damaging	0.83
R9071:Fasn	UTSW	11	120,708,324 (GRCm39)	missense	probably damaging	1.00
R9153:Fasn	UTSW	11	120,706,496 (GRCm39)	missense	possibly damaging	0.83
R9238:Fasn	UTSW	11	120,705,871 (GRCm39)	missense	probably benign
R9249:Fasn	UTSW	11	120,703,915 (GRCm39)	missense	probably benign
R9345:Fasn	UTSW	11	120,706,735 (GRCm39)	missense	probably benign	0.22
X0067:Fasn	UTSW	11	120,707,129 (GRCm39)	critical splice donor site	probably null
Z1177:Fasn	UTSW	11	120,706,297 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATTCATTCACTGCAGCCTGC -3'
(R):5'- CGGACATTTGTCATTTCACCAAC -3'

Sequencing Primer
(F):5'- CCTGCAGGCATCAAGGAG -3'
(R):5'- ACAACATTGGCCCCAGGTAGTG -3'

Posted On

2019-03-21