Mutagenetix > Incidental Mutations

Incidental Mutation 'R4794:Fasn'

368870

Institutional Source

Beutler Lab

Gene Symbol

Fasn

Ensembl Gene

ENSMUSG00000025153

Gene Name

fatty acid synthase

Synonyms

FAS, A630082H08Rik

MMRRC Submission

042420-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120805846-120824547 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120811295 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1845 (V1845A)

Ref Sequence

ENSEMBL: ENSMUSP00000145585 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000055655
AA Change: V1847A

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000052872
Gene: ENSMUSG00000025153
AA Change: V1847A

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: V1845A

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206637

Meta Mutation Damage Score

0.1170

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,421,424	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,588,129	E537G	probably damaging	Het
Asic3	C	T	5: 24,415,897	A259V	probably damaging	Het
Bcar1	G	A	8: 111,720,920	Q142*	probably null	Het
Bcas3	T	C	11: 85,509,468	V200A	probably damaging	Het
Cd302	A	T	2: 60,272,149	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984	N387K	probably damaging	Het
Copa	T	A	1: 172,119,321	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,196,139	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,194,485	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,503,992	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,885,337	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,870,177	Y114F	probably benign	Het
Epm2a	A	G	10: 11,390,853	D114G	probably benign	Het
Exoc5	T	C	14: 49,048,900		probably null	Het
Fam135a	G	A	1: 24,029,160	T706I	probably benign	Het
Fscn3	A	G	6: 28,430,596	E255G	probably damaging	Het
Galnt7	A	T	8: 57,545,363	Y311N	probably damaging	Het
Gm13757	A	T	2: 88,446,347	M197K	probably benign	Het
Gm5724	A	G	6: 141,767,562	V31A	probably benign	Het
Gm8765	C	G	13: 50,703,239	P971R	probably benign	Het
Grid1	T	C	14: 34,822,622	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933	F331L	probably damaging	Het
Ikbkap	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176		probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kif1a	T	C	1: 93,025,727	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,756,679	F1022L	probably damaging	Het
Med16	G	T	10: 79,900,117	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,645,506		probably benign	Het
Myh7b	G	A	2: 155,623,266	V681I	probably benign	Het
Ndc1	A	G	4: 107,390,222	E409G	probably benign	Het
Necap2	A	G	4: 141,071,601		probably benign	Het
Olfr47	T	A	6: 43,235,695	L29H	probably damaging	Het
Olfr847	C	T	9: 19,375,545	S112N	probably benign	Het
Parp12	G	A	6: 39,117,810	T117I	probably benign	Het
Pars2	C	A	4: 106,654,210	C396*	probably null	Het
Prg4	A	T	1: 150,454,546		probably benign	Het
Prkg2	G	A	5: 98,966,633	T523I	probably damaging	Het
Prph	T	A	15: 99,057,427	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,414,076	Y549H	probably damaging	Het
Rbm12	A	T	2: 156,095,569		probably benign	Het
Reln	T	C	5: 22,344,185	Y75C	probably damaging	Het
Rock2	G	A	12: 16,940,407	R110H	probably damaging	Het
Samd1	G	A	8: 83,999,717	E468K	probably damaging	Het
Samd11	T	A	4: 156,249,465	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,365,726	G37V	probably damaging	Het
Sf1	C	A	19: 6,375,664		probably benign	Het
Slc17a5	T	A	9: 78,574,715	H183L	probably damaging	Het
Smgc	T	A	15: 91,841,454	S13T	probably benign	Het
Snapin	A	G	3: 90,490,785		probably benign	Het
Ssc5d	C	T	7: 4,943,745	P1033S	probably benign	Het
Strn3	T	C	12: 51,650,171	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,196,836	F238L	possibly damaging	Het
Tbck	G	A	3: 132,686,968	V57M	possibly damaging	Het
Tgm3	A	G	2: 130,041,955	D511G	probably benign	Het
Tlr5	T	C	1: 182,973,896	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,620,355		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,358,084	C168Y	probably damaging	Het
Tph2	G	T	10: 115,182,770	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,661,690		probably null	Het
Ttc14	A	T	3: 33,803,149	M215L	probably benign	Het
Ube3c	A	G	5: 29,597,085	N120S	probably benign	Het
Ubr2	A	T	17: 46,930,445	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,900,704	T318A	probably benign	Het
Washc2	T	C	6: 116,258,649	V941A	probably benign	Het
Wdfy3	A	G	5: 101,943,943	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,862,844	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,637,635	D537A	probably benign	Het
Zfp57	A	G	17: 37,010,130	N292S	possibly 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
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	unclassified	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
R3002: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
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
X0067:Fasn	UTSW	11	120816303	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGCAGATAAGTAGCAGTGGC -3'
(R):5'- GCATGGCTATCTTCTTGAAGAACG -3'

Sequencing Primer
(F):5'- CTGAAGGTGCTGGTACCAAGC -3'
(R):5'- AGAACGTCACTTTCCATGGG -3'

Posted On

2016-02-04