Mutagenetix > Incidental Mutations

Incidental Mutation 'R3002:Fasn'

477317

Institutional Source

Beutler Lab

Gene Symbol

Fasn

Ensembl Gene

ENSMUSG00000025153

Gene Name

fatty acid synthase

Synonyms

FAS, A630082H08Rik

MMRRC Submission

040531-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3002 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120805846-120824547 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120809845 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2114 (D2114G)

Ref Sequence

ENSEMBL: ENSMUSP00000145585 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000055655
AA Change: D2116G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000052872
Gene: ENSMUSG00000025153
AA Change: D2116G

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
AA Change: D2114G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206637

Meta Mutation Damage Score

0.0703

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (41/41)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 86,046,080	W40R	possibly damaging	Het
A2m	A	G	6: 121,661,447	S873G	possibly damaging	Het
Acd	C	T	8: 105,700,281		probably null	Het
Acly	T	C	11: 100,504,227	K469E	possibly damaging	Het
Adcy6	T	C	15: 98,596,660	T767A	probably benign	Het
Bnip3	T	C	7: 138,894,701	I93V	probably benign	Het
Casq2	A	G	3: 102,145,201	D269G	probably damaging	Het
Ccdc180	A	G	4: 45,899,988	D182G	probably benign	Het
Cep112	A	G	11: 108,440,503	E178G	probably damaging	Het
Chrd	T	G	16: 20,737,445	Y585*	probably null	Het
Cnksr3	T	C	10: 7,152,856		probably benign	Het
Csmd1	A	G	8: 16,196,170	F1072L	probably damaging	Het
Dnaic2	C	T	11: 114,750,471	P374L	probably damaging	Het
Eif4g1	T	A	16: 20,692,384	F1289I	probably damaging	Het
Eprs	T	C	1: 185,424,391		probably null	Het
Fam105a	T	C	15: 27,664,706	T55A	probably benign	Het
Fbxl17	T	A	17: 63,225,077	E590D	probably damaging	Het
Flnb	G	T	14: 7,907,162	R1245L	probably benign	Het
Folh1	A	C	7: 86,723,311	I678M	probably damaging	Het
Frrs1l	G	T	4: 56,990,139		probably benign	Het
Hal	G	A	10: 93,507,519	A542T	probably damaging	Het
Hs3st2	T	A	7: 121,500,687	M252K	probably damaging	Het
Il27ra	G	T	8: 84,032,031	S499*	probably null	Het
Klhdc1	T	A	12: 69,256,209	V173D	possibly damaging	Het
Knop1	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTC	7: 118,852,449		probably benign	Het
Lct	T	C	1: 128,304,226	M629V	probably damaging	Het
Lnx2	A	G	5: 147,019,015	V657A	probably benign	Het
Lrig1	G	A	6: 94,608,777	S810L	probably damaging	Het
Lyst	A	T	13: 13,696,705	M2676L	probably benign	Het
Mindy4	T	A	6: 55,218,364	S188T	probably benign	Het
Mrgprb3	C	T	7: 48,643,484	M106I	probably benign	Het
Ncam1	A	G	9: 49,557,226	I311T	probably damaging	Het
Ndufa8	T	A	2: 36,036,559	E155V	possibly damaging	Het
Nr4a1	A	G	15: 101,270,972		probably null	Het
Olfr446	A	G	6: 42,927,954	H241R	probably damaging	Het
Orc3	T	C	4: 34,571,790	T660A	probably benign	Het
Otub2	T	C	12: 103,404,277	S273P	probably damaging	Het
Phf11c	A	G	14: 59,384,840	L241P	probably damaging	Het
Pik3ca	T	A	3: 32,462,797	I1058N	probably damaging	Het
Pkd2l1	A	G	19: 44,155,557	F359S	possibly damaging	Het
Plxnc1	A	T	10: 94,793,218	F1565I	probably damaging	Het
Polr1a	A	G	6: 71,913,016	N73S	probably benign	Het
Polr1a	T	A	6: 71,965,644	V1156E	probably benign	Het
Pon2	A	G	6: 5,268,976		probably null	Het
Ptcd1	G	A	5: 145,159,576	L236F	probably damaging	Het
Rgl2	A	G	17: 33,932,605	I208V	probably benign	Het
Rhox2e	C	A	X: 37,530,863	P69Q	probably damaging	Het
Rptor	G	A	11: 119,872,371	R927Q	possibly damaging	Het
Sec14l5	A	G	16: 5,171,882	Y230C	probably damaging	Het
Sele	G	T	1: 164,053,571	G447C	probably damaging	Het
Slc17a1	G	A	13: 23,878,581		probably null	Het
Slc2a4	A	T	11: 69,945,925	Y159*	probably null	Het
Slitrk5	A	G	14: 111,679,582	K213E	probably damaging	Het
Tdrd1	C	A	19: 56,861,750	Y981*	probably null	Het
Tex15	T	C	8: 33,574,528	Y1329H	probably benign	Het
Tgif2	C	G	2: 156,844,194	S2W	probably damaging	Het
Thoc5	A	G	11: 4,928,688	M620V	probably benign	Het
Tmeff2	C	T	1: 51,181,835	A323V	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmem68	A	C	4: 3,569,588	L34W	probably damaging	Het
Tmtc4	A	T	14: 122,932,818		probably null	Het
Trpm2	A	T	10: 77,930,534		probably null	Het
Tyk2	C	A	9: 21,109,321	R938L	probably benign	Het
Usp33	A	T	3: 152,357,942	T18S	probably damaging	Het
V1rd19	A	T	7: 24,003,885	I259F	probably benign	Het
Vmn2r24	A	C	6: 123,804,272	Q479P	probably benign	Het
Vmn2r98	A	G	17: 19,065,863	M208V	probably benign	Het
Wfdc6a	C	T	2: 164,580,305	V125I	probably benign	Het
Zcchc11	G	A	4: 108,512,928	E714K	probably damaging	Het
Zkscan17	A	G	11: 59,487,251	C369R	probably damaging	Het

Other mutations in Fasn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Fasn	APN	11	120820539	missense	probably damaging	1.00
IGL01014:Fasn	APN	11	120817229	missense	probably damaging	0.99
IGL01131:Fasn	APN	11	120814619	missense	probably benign	0.01
IGL01603:Fasn	APN	11	120816065	missense	probably damaging	0.99
IGL01606:Fasn	APN	11	120809023	critical splice donor site	probably null
IGL01897:Fasn	APN	11	120807939	missense	probably damaging	1.00
IGL01899:Fasn	APN	11	120820149	splice site	probably benign
IGL01987:Fasn	APN	11	120818073	missense	probably damaging	1.00
IGL02103:Fasn	APN	11	120811936	missense	probably damaging	1.00
IGL02212:Fasn	APN	11	120807903	missense	probably damaging	1.00
IGL02294:Fasn	APN	11	120810276	missense	probably damaging	0.98
IGL02336:Fasn	APN	11	120813736	missense	possibly damaging	0.48
IGL02417:Fasn	APN	11	120820340	missense	probably damaging	1.00
IGL02452:Fasn	APN	11	120808180	missense	probably benign	0.00
IGL02559:Fasn	APN	11	120809066	missense	possibly damaging	0.51
IGL02724:Fasn	APN	11	120809833	missense	probably benign	0.41
IGL02862:Fasn	APN	11	120818979	missense	possibly damaging	0.89
IGL02947:Fasn	APN	11	120815676	missense	probably damaging	0.99
IGL03025:Fasn	APN	11	120818148	missense	probably benign	0.01
IGL03131:Fasn	APN	11	120810724	missense	possibly damaging	0.93
IGL03157:Fasn	APN	11	120807909	missense	probably benign	0.12
IGL03182:Fasn	APN	11	120812726	missense	probably damaging	1.00
IGL03370:Fasn	APN	11	120812795	missense	possibly damaging	0.95
BB007:Fasn	UTSW	11	120809235	missense	probably benign
BB017:Fasn	UTSW	11	120809235	missense	probably benign
R0019:Fasn	UTSW	11	120807998	splice site	probably benign
R0019:Fasn	UTSW	11	120807998	splice site	probably benign
R0243:Fasn	UTSW	11	120815315	missense	probably benign	0.00
R0304:Fasn	UTSW	11	120819936	missense	possibly damaging	0.85
R0389:Fasn	UTSW	11	120816182	missense	probably damaging	1.00
R0449:Fasn	UTSW	11	120811068	missense	probably benign
R0626:Fasn	UTSW	11	120811925	missense	probably damaging	0.99
R1037:Fasn	UTSW	11	120809451	missense	probably benign
R1061:Fasn	UTSW	11	120822182	splice site	probably null
R1109:Fasn	UTSW	11	120812324	missense	possibly damaging	0.77
R1467:Fasn	UTSW	11	120811040	missense	probably benign	0.07
R1467:Fasn	UTSW	11	120811040	missense	probably benign	0.07
R1498:Fasn	UTSW	11	120815419	missense	probably damaging	0.98
R1552:Fasn	UTSW	11	120818558	missense	probably damaging	1.00
R1568:Fasn	UTSW	11	120813249	missense	possibly damaging	0.78
R1624:Fasn	UTSW	11	120813111	missense	probably damaging	1.00
R1774:Fasn	UTSW	11	120817171	missense	probably damaging	1.00
R1826:Fasn	UTSW	11	120808499	splice site	probably benign
R1846:Fasn	UTSW	11	120813307	missense	probably benign	0.00
R2298:Fasn	UTSW	11	120813816	missense	possibly damaging	0.78
R2513:Fasn	UTSW	11	120814748	missense	probably damaging	1.00
R3001:Fasn	UTSW	11	120809845	missense	probably benign
R3154:Fasn	UTSW	11	120807939	missense	probably damaging	1.00
R3434:Fasn	UTSW	11	120822773	missense	probably damaging	0.99
R4794:Fasn	UTSW	11	120811295	missense	probably benign	0.36
R4840:Fasn	UTSW	11	120813059	missense	possibly damaging	0.83
R4863:Fasn	UTSW	11	120808828	missense	probably damaging	1.00
R4876:Fasn	UTSW	11	120812312	missense	probably damaging	1.00
R4914:Fasn	UTSW	11	120816646	missense	probably benign	0.39
R4915:Fasn	UTSW	11	120816646	missense	probably benign	0.39
R4916:Fasn	UTSW	11	120816646	missense	probably benign	0.39
R4918:Fasn	UTSW	11	120816646	missense	probably benign	0.39
R4936:Fasn	UTSW	11	120816085	missense	probably damaging	1.00
R5025:Fasn	UTSW	11	120811908	missense	probably benign	0.00
R5092:Fasn	UTSW	11	120815036	missense	probably benign	0.00
R5120:Fasn	UTSW	11	120811391	missense	probably benign	0.22
R5175:Fasn	UTSW	11	120816369	missense	probably benign	0.14
R5183:Fasn	UTSW	11	120808882	missense	probably benign	0.44
R5506:Fasn	UTSW	11	120809510	missense	probably benign	0.26
R5557:Fasn	UTSW	11	120812426	missense	probably benign	0.10
R5614:Fasn	UTSW	11	120813328	missense	probably benign
R5728:Fasn	UTSW	11	120813513	missense	probably benign	0.06
R5838:Fasn	UTSW	11	120816124	missense	probably damaging	0.98
R5959:Fasn	UTSW	11	120808564	missense	probably damaging	0.99
R6029:Fasn	UTSW	11	120820909	missense	probably damaging	1.00
R6134:Fasn	UTSW	11	120822186	missense	probably benign	0.05
R6335:Fasn	UTSW	11	120815359	missense	probably damaging	0.96
R6452:Fasn	UTSW	11	120815411	missense	probably damaging	1.00
R6627:Fasn	UTSW	11	120818927	missense	probably benign	0.10
R6742:Fasn	UTSW	11	120810453	missense	probably damaging	0.96
R6767:Fasn	UTSW	11	120817487	missense	possibly damaging	0.62
R6927:Fasn	UTSW	11	120808289	missense	probably benign	0.03
R6976:Fasn	UTSW	11	120819867	missense	probably damaging	1.00
R7092:Fasn	UTSW	11	120820120	missense	possibly damaging	0.56
R7157:Fasn	UTSW	11	120810465	nonsense	probably null
R7373:Fasn	UTSW	11	120813976	missense	possibly damaging	0.81
R7575:Fasn	UTSW	11	120812687	missense	possibly damaging	0.93
R7652:Fasn	UTSW	11	120816328	missense	probably damaging	0.97
R7670:Fasn	UTSW	11	120813419	missense	probably damaging	1.00
R7806:Fasn	UTSW	11	120809995	missense	probably benign	0.00
R7930:Fasn	UTSW	11	120809235	missense	probably benign
R8007:Fasn	UTSW	11	120809527	missense	probably benign
R8012:Fasn	UTSW	11	120811602	missense	probably damaging	1.00
R8185:Fasn	UTSW	11	120812143	missense	probably benign	0.42
R8557:Fasn	UTSW	11	120815784	missense	probably benign	0.23
R8711:Fasn	UTSW	11	120819118	missense	possibly damaging	0.93
R8772:Fasn	UTSW	11	120820536	missense	probably benign
R8856:Fasn	UTSW	11	120818153	missense	possibly damaging	0.58
R8875:Fasn	UTSW	11	120812398	missense	possibly damaging	0.83
X0067:Fasn	UTSW	11	120816303	critical splice donor site	probably null
Z1177:Fasn	UTSW	11	120815471	critical splice acceptor site	probably null

Predicted Primers

Posted On

2017-05-15