Mutagenetix > Incidental Mutation

Incidental Mutation 'R0019:Fasn'

19043

Institutional Source

Beutler Lab

Gene Symbol

Fasn

Ensembl Gene

ENSMUSG00000025153

Gene Name

fatty acid synthase

Synonyms

A630082H08Rik, FAS

MMRRC Submission

038314-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0019 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

120696672-120715373 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 120698824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145585 (fasta)

Gene Model

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

AlphaFold

P19096

Predicted Effect

probably benign
Transcript: ENSMUST00000055655

SMART Domains

Protein: ENSMUSP00000052872
Gene: ENSMUSG00000025153

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

noncoding transcript
Transcript: ENSMUST00000146541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155276

Predicted Effect

probably benign
Transcript: ENSMUST00000206589

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 83.5%
3x: 78.2%
10x: 64.4%
20x: 48.4%

Validation Efficiency

91% (93/102)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13a	T	A	5: 114,924,142 (GRCm39)		probably benign	Het
Arhgef12	A	T	9: 42,889,529 (GRCm39)	W1029R	probably damaging	Het
Aunip	T	A	4: 134,250,823 (GRCm39)	L256*	probably null	Het
Bahcc1	T	A	11: 120,180,597 (GRCm39)	M2607K	probably damaging	Het
Bltp3b	A	G	10: 89,611,831 (GRCm39)	T5A	probably damaging	Het
Cacng6	G	T	7: 3,480,384 (GRCm39)	M152I	possibly damaging	Het
Cep120	A	G	18: 53,842,119 (GRCm39)		probably benign	Het
D130043K22Rik	T	A	13: 25,064,795 (GRCm39)	V737D	probably damaging	Het
Dock10	A	G	1: 80,583,642 (GRCm39)	S187P	probably damaging	Het
Eogt	C	T	6: 97,111,234 (GRCm39)		probably benign	Het
Frem2	C	T	3: 53,431,099 (GRCm39)	V2745M	probably damaging	Het
Fshb	T	C	2: 106,887,690 (GRCm39)	S110G	probably benign	Het
Gpi1	A	G	7: 33,920,324 (GRCm39)	Y144H	probably damaging	Het
Gsap	T	C	5: 21,475,620 (GRCm39)		probably benign	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Herc3	T	C	6: 58,862,050 (GRCm39)		probably benign	Het
Il1r2	C	T	1: 40,164,210 (GRCm39)	T359M	probably damaging	Het
Il6st	T	C	13: 112,637,682 (GRCm39)	C563R	possibly damaging	Het
Irs1	T	A	1: 82,264,977 (GRCm39)	K1080*	probably null	Het
Itpr1	T	C	6: 108,331,587 (GRCm39)	V182A	probably damaging	Het
Kalrn	C	T	16: 34,018,884 (GRCm39)		probably benign	Het
Kcnj11	G	A	7: 45,748,363 (GRCm39)	A320V	probably benign	Het
Lrig1	T	A	6: 94,584,330 (GRCm39)	R905*	probably null	Het
Lrrc43	T	C	5: 123,639,378 (GRCm39)	L469P	probably damaging	Het
Med29	A	T	7: 28,090,501 (GRCm39)		probably benign	Het
Mroh7	T	C	4: 106,578,623 (GRCm39)	I18M	probably benign	Het
Nalcn	A	C	14: 123,744,901 (GRCm39)	C376G	probably benign	Het
Ncor2	C	T	5: 125,196,545 (GRCm39)		probably null	Het
Nek1	T	A	8: 61,542,768 (GRCm39)	M786K	probably benign	Het
Nrxn2	A	G	19: 6,559,987 (GRCm39)		probably benign	Het
Nxpe2	T	C	9: 48,231,080 (GRCm39)	I430V	probably benign	Het
Pcolce2	A	G	9: 95,577,017 (GRCm39)		probably null	Het
Pdcl	A	T	2: 37,241,932 (GRCm39)	L273M	probably damaging	Het
Pml	A	T	9: 58,127,776 (GRCm39)	S610R	probably damaging	Het
Polk	C	A	13: 96,641,124 (GRCm39)	R144S	probably damaging	Het
Rlf	A	G	4: 121,003,769 (GRCm39)	V1737A	possibly damaging	Het
Rubcnl	T	A	14: 75,285,703 (GRCm39)		probably benign	Het
Scn3a	A	T	2: 65,292,045 (GRCm39)	V1567E	probably damaging	Het
Scyl2	A	G	10: 89,495,183 (GRCm39)	I296T	probably benign	Het
Slc15a3	A	G	19: 10,833,404 (GRCm39)	I474V	probably damaging	Het
Sstr1	T	C	12: 58,259,935 (GRCm39)	L186S	probably damaging	Het
Tmem108	A	T	9: 103,366,539 (GRCm39)	V484D	possibly damaging	Het
Trim69	A	T	2: 122,004,958 (GRCm39)		probably null	Het
Trim80	T	G	11: 115,338,768 (GRCm39)	Y533D	probably damaging	Het
Unc13b	T	C	4: 43,096,990 (GRCm39)	I121T	possibly damaging	Het
Usp40	T	C	1: 87,906,133 (GRCm39)	T701A	probably benign	Het
Xpr1	A	G	1: 155,208,145 (GRCm39)		probably benign	Het
Ywhab	T	A	2: 163,858,090 (GRCm39)	I219N	probably damaging	Het
Zfp219	G	T	14: 52,246,485 (GRCm39)	T169K	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
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
R6767:Fasn	UTSW	11	120,708,313 (GRCm39)	missense	possibly damaging	0.62
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

Posted On

2013-03-25