Mutagenetix > Incidental Mutation

Incidental Mutation 'R7652:Fasn'

590936

Institutional Source

Beutler Lab

Gene Symbol

Fasn

Ensembl Gene

ENSMUSG00000025153

Gene Name

fatty acid synthase

Synonyms

A630082H08Rik, FAS

MMRRC Submission

045729-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7652 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120696672-120715373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120707154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 857 (S857F)

Ref Sequence

ENSEMBL: ENSMUSP00000052872 (fasta)

Gene Model

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

AlphaFold

P19096

Predicted Effect

probably damaging
Transcript: ENSMUST00000055655
AA Change: S857F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052872
Gene: ENSMUSG00000025153
AA Change: S857F

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

probably damaging
Transcript: ENSMUST00000206589
AA Change: S857F

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (66/66)

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
Agrn	A	G	4: 156,253,675 (GRCm39)		probably null	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Anxa2r2	A	T	13: 120,488,529 (GRCm39)	S7T	possibly damaging	Het
Aph1b	T	C	9: 66,691,823 (GRCm39)	T195A	probably benign	Het
Apoe	G	T	7: 19,430,535 (GRCm39)	R236S	possibly damaging	Het
Arap3	G	T	18: 38,111,505 (GRCm39)	T1137K	probably damaging	Het
Arhgap45	C	T	10: 79,864,672 (GRCm39)	A908V	probably benign	Het
Atp13a1	T	C	8: 70,258,209 (GRCm39)	C965R	probably damaging	Het
C7	A	G	15: 5,041,587 (GRCm39)	Y440H	probably damaging	Het
Cacna2d2	T	C	9: 107,401,397 (GRCm39)		probably null	Het
Ddah2	C	A	17: 35,280,026 (GRCm39)	R173S	possibly damaging	Het
Dnajc11	T	C	4: 152,058,682 (GRCm39)	Y337H	probably damaging	Het
Dnajc25	A	G	4: 59,020,483 (GRCm39)	K302R	probably benign	Het
Dnajc6	A	T	4: 101,463,874 (GRCm39)	Q209L	probably damaging	Het
Drosha	G	A	15: 12,859,522 (GRCm39)	V577I	probably benign	Het
Ebf2	G	T	14: 67,628,016 (GRCm39)		probably null	Het
Epx	A	G	11: 87,766,160 (GRCm39)		probably null	Het
Eqtn	T	C	4: 94,816,574 (GRCm39)	Y73C	probably damaging	Het
Fam107b	A	G	2: 3,773,884 (GRCm39)	N21S	probably benign	Het
Fat1	A	G	8: 45,406,336 (GRCm39)	N1029S	probably damaging	Het
Gas8	A	G	8: 124,253,275 (GRCm39)	I208V	probably benign	Het
Gm3269	T	C	14: 16,026,209 (GRCm39)	I88T	probably benign	Het
Gm8005	C	A	14: 42,258,919 (GRCm39)	L136F		Het
Grid2ip	C	A	5: 143,368,393 (GRCm39)	P743Q	probably damaging	Het
H2-T15	A	T	17: 36,367,675 (GRCm39)	V221D	probably damaging	Het
Hbs1l	C	T	10: 21,240,659 (GRCm39)	T626I	probably benign	Het
Hdac3	T	A	18: 38,087,972 (GRCm39)		probably benign	Het
Hnrnpab	T	C	11: 51,496,400 (GRCm39)	Y94C	probably damaging	Het
Homer2	T	C	7: 81,299,414 (GRCm39)	D17G	probably damaging	Het
Ikbke	C	T	1: 131,199,569 (GRCm39)	R308Q	probably damaging	Het
Ints10	A	G	8: 69,277,771 (GRCm39)	T682A	possibly damaging	Het
Klhl3	G	A	13: 58,261,146 (GRCm39)		probably benign	Het
Klk1b9	A	T	7: 43,445,514 (GRCm39)	T235S	probably benign	Het
Kmt2c	T	C	5: 25,520,717 (GRCm39)	T1798A	probably benign	Het
Kri1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTCCTCCTC	9: 21,192,352 (GRCm39)		probably benign	Het
Krtap4-6	T	C	11: 99,556,440 (GRCm39)	I96V	unknown	Het
Lef1	A	C	3: 130,994,003 (GRCm39)	R354S	probably damaging	Het
Lrp6	A	T	6: 134,488,208 (GRCm39)	L296*	probably null	Het
Maml2	T	C	9: 13,532,945 (GRCm39)	Y720H		Het
Mmrn1	A	G	6: 60,954,490 (GRCm39)	N924D	probably benign	Het
Myh7b	A	G	2: 155,474,156 (GRCm39)	K1624E	probably damaging	Het
Nos3	T	A	5: 24,588,610 (GRCm39)	V1112D	probably damaging	Het
Or2y14	T	C	11: 49,404,512 (GRCm39)	F16L	probably damaging	Het
Or4c111	C	T	2: 88,843,893 (GRCm39)	V172I	probably benign	Het
Or5an1b	C	A	19: 12,299,651 (GRCm39)	C180F	probably damaging	Het
Or5w13	A	G	2: 87,523,704 (GRCm39)	I174T	probably damaging	Het
Or6c70	A	T	10: 129,710,346 (GRCm39)	N93K	probably damaging	Het
Phospho1	T	C	11: 95,721,645 (GRCm39)	L105S	probably damaging	Het
Prss35	T	A	9: 86,638,023 (GRCm39)	N264K	probably benign	Het
Ptpn13	A	G	5: 103,677,578 (GRCm39)	D732G	probably benign	Het
Rab18	A	T	18: 6,783,123 (GRCm39)	T64S	possibly damaging	Het
Rft1	A	G	14: 30,399,773 (GRCm39)	Q319R	probably benign	Het
Rgs7	T	A	1: 174,921,396 (GRCm39)	M220L	probably benign	Het
Rnf13	A	G	3: 57,671,772 (GRCm39)	N28S	probably benign	Het
Setd3	A	T	12: 108,078,548 (GRCm39)	I311N	probably damaging	Het
Setd5	G	A	6: 113,098,725 (GRCm39)	R786H	probably damaging	Het
Slc26a6	T	C	9: 108,733,143 (GRCm39)		probably null	Het
Slc26a9	A	T	1: 131,691,634 (GRCm39)	T626S	probably benign	Het
Stambp	A	T	6: 83,540,910 (GRCm39)		probably null	Het
Stom	A	T	2: 35,206,041 (GRCm39)	N229K	probably benign	Het
Tlr1	A	T	5: 65,084,130 (GRCm39)	L149*	probably null	Het
Trpc3	C	A	3: 36,692,677 (GRCm39)	V772F	probably benign	Het
Ube3a	A	G	7: 58,893,102 (GRCm39)		probably benign	Het
Ugt2b35	T	A	5: 87,149,369 (GRCm39)	F207I	probably damaging	Het
Usp53	A	T	3: 122,746,884 (GRCm39)	D360E	possibly damaging	Het
Vmn2r96	T	G	17: 18,793,832 (GRCm39)	S59A	probably benign	Het
Wdr70	A	G	15: 8,108,700 (GRCm39)	C149R	probably benign	Het
Wnt3	A	G	11: 103,703,290 (GRCm39)	T258A	possibly damaging	Het
Zfp729b	T	C	13: 67,739,371 (GRCm39)	T965A	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
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
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'- GGTCTCTTCTAGGGACAAGC -3'
(R):5'- TCAGCCTAGCTCAGTTCTGG -3'

Sequencing Primer
(F):5'- TGCGAGCCAGTGTCTTCCAC -3'
(R):5'- GCCAGGTATGTCACTCAGCTC -3'

Posted On

2019-10-24