Mutagenetix > Incidental Mutation

Incidental Mutation 'R8185:Fasn'

634834

Institutional Source

Beutler Lab

Gene Symbol

Fasn

Ensembl Gene

ENSMUSG00000025153

Gene Name

fatty acid synthase

Synonyms

A630082H08Rik, FAS

MMRRC Submission

067608-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8185 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120696672-120715373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120702969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1658 (I1658N)

Ref Sequence

ENSEMBL: ENSMUSP00000052872 (fasta)

Gene Model

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

AlphaFold

P19096

Predicted Effect

probably benign
Transcript: ENSMUST00000055655
AA Change: I1658N

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000052872
Gene: ENSMUSG00000025153
AA Change: I1658N

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 benign
Transcript: ENSMUST00000206589
AA Change: I1656N

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	C	5: 88,120,011 (GRCm39)	V256A	possibly damaging	Het
Ackr3	G	A	1: 90,141,666 (GRCm39)	V42M	probably benign	Het
C9	T	A	15: 6,520,878 (GRCm39)	I441N	probably damaging	Het
Cd44	G	A	2: 102,654,665 (GRCm39)	A667V	possibly damaging	Het
Cdc23	T	C	18: 34,774,197 (GRCm39)	N322D	probably benign	Het
Chrm2	A	G	6: 36,500,824 (GRCm39)	N227S	probably benign	Het
Cnot1	C	T	8: 96,487,979 (GRCm39)	R559Q	probably damaging	Het
Cntnap4	A	G	8: 113,391,897 (GRCm39)	N121D	probably damaging	Het
Cog7	A	G	7: 121,576,969 (GRCm39)	L63P	probably damaging	Het
Cpne7	C	T	8: 123,854,168 (GRCm39)	A285V	probably benign	Het
Cpsf7	C	T	19: 10,514,224 (GRCm39)	R343*	probably null	Het
Cubn	T	G	2: 13,299,129 (GRCm39)	K3181N	probably benign	Het
Dsg1a	C	T	18: 20,473,669 (GRCm39)	T914I	probably damaging	Het
Ebf3	A	T	7: 136,827,607 (GRCm39)	C255S	possibly damaging	Het
Eif1ad5	T	A	12: 87,940,433 (GRCm39)	W46R	noncoding transcript	Het
Fcgr2b	A	G	1: 170,794,020 (GRCm39)	V210A	probably damaging	Het
Flvcr1	G	A	1: 190,747,681 (GRCm39)	P305S	probably damaging	Het
Frem3	G	T	8: 81,338,933 (GRCm39)	E409*	probably null	Het
Gabrr2	T	A	4: 33,082,330 (GRCm39)	D213E	probably damaging	Het
Ggt1	T	A	10: 75,421,040 (GRCm39)	D418E	possibly damaging	Het
Immt	C	T	6: 71,849,835 (GRCm39)	Q530*	probably null	Het
Ints10	T	C	8: 69,249,370 (GRCm39)	F67L	possibly damaging	Het
Kdm4c	C	T	4: 74,291,821 (GRCm39)	H813Y	probably benign	Het
Klhl5	T	A	5: 65,313,471 (GRCm39)	M395K	probably damaging	Het
Klk1b11	T	C	7: 43,426,332 (GRCm39)	I49T	probably damaging	Het
Lmln	A	T	16: 32,909,690 (GRCm39)	N357I	probably damaging	Het
Lpar1	A	T	4: 58,486,509 (GRCm39)	M254K	probably damaging	Het
Macc1	T	C	12: 119,410,894 (GRCm39)	V554A	probably damaging	Het
Melk	G	A	4: 44,360,965 (GRCm39)	V582I	probably benign	Het
Mmp27	A	G	9: 7,573,492 (GRCm39)	T195A	unknown	Het
Nedd4l	T	C	18: 65,342,769 (GRCm39)	F781L	probably damaging	Het
Nvl	G	A	1: 180,971,739 (GRCm39)		probably benign	Het
Nxpe4	G	A	9: 48,304,509 (GRCm39)	D199N	possibly damaging	Het
Or2k2	T	C	4: 58,785,542 (GRCm39)	Y60C	probably damaging	Het
Or8b8	A	C	9: 37,809,531 (GRCm39)	Y277S	probably damaging	Het
Ovol1	T	C	19: 5,601,542 (GRCm39)	D160G	probably damaging	Het
Ppp1r13l	C	T	7: 19,106,863 (GRCm39)	P453S	probably benign	Het
Ppp1r37	C	T	7: 19,266,873 (GRCm39)	G373S	probably damaging	Het
Slc7a9	T	C	7: 35,151,842 (GRCm39)	S46P	probably damaging	Het
Sntn	A	G	14: 13,679,014 (GRCm38)	I63V	probably benign	Het
Syde2	T	C	3: 145,694,667 (GRCm39)	V305A	probably benign	Het
Tpp1	A	T	7: 105,398,430 (GRCm39)		probably null	Het
Vmn1r179	A	T	7: 23,628,163 (GRCm39)	N118I	possibly damaging	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
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
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'- GTATGCTCGCTTCTCTGCAG -3'
(R):5'- TCATCTGACTTCCTCTGGGATG -3'

Sequencing Primer
(F):5'- TTCTCTGCAGAGCCTGTCAGG -3'
(R):5'- ATGTACCCTCCAGCTGGTGAG -3'

Posted On

2020-07-13