Mutagenetix > Incidental Mutation

Incidental Mutation 'R5506:Fasn'

430937

Institutional Source

Beutler Lab

Gene Symbol

Fasn

Ensembl Gene

ENSMUSG00000025153

Gene Name

fatty acid synthase

Synonyms

A630082H08Rik, FAS

MMRRC Submission

043067-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120696672-120715373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120700336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 2165 (D2165N)

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: D2165N

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000052872
Gene: ENSMUSG00000025153
AA Change: D2165N

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: D2163N

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206637

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.4%

Validation Efficiency

100% (53/53)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 137,773,708 (GRCm39)	G966W	probably damaging	Het
A930009A15Rik	G	T	10: 115,414,267 (GRCm39)		probably null	Het
Cant1	G	T	11: 118,302,268 (GRCm39)	H16Q	probably benign	Het
Capn3	G	T	2: 120,332,901 (GRCm39)	V612F	probably damaging	Het
Cep112	A	T	11: 108,555,429 (GRCm39)	E141D	probably damaging	Het
Cept1	A	G	3: 106,438,564 (GRCm39)	V173A	probably benign	Het
CN725425	A	G	15: 91,120,029 (GRCm39)	D50G	possibly damaging	Het
Cubn	A	T	2: 13,496,506 (GRCm39)		probably null	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dpp8	A	G	9: 64,985,391 (GRCm39)		probably null	Het
Ecm1	G	A	3: 95,643,169 (GRCm39)	T377I	probably benign	Het
Exosc8	A	G	3: 54,638,600 (GRCm39)		probably benign	Het
Gab2	A	G	7: 96,952,320 (GRCm39)	E571G	probably damaging	Het
Galnt5	C	A	2: 57,889,637 (GRCm39)	H412Q	probably benign	Het
Galr1	T	A	18: 82,423,989 (GRCm39)	Y96F	possibly damaging	Het
Garin1b	G	A	6: 29,319,297 (GRCm39)	E34K	probably damaging	Het
Gnl2	C	A	4: 124,949,158 (GRCm39)		probably benign	Het
H2ac22	A	C	13: 21,971,081 (GRCm39)	I103S	probably damaging	Het
H2ax	T	C	9: 44,246,402 (GRCm39)	V115A	probably benign	Het
Heatr9	T	C	11: 83,405,592 (GRCm39)	N317S	possibly damaging	Het
Kndc1	A	G	7: 139,507,804 (GRCm39)	Y1254C	probably damaging	Het
Lrp6	A	T	6: 134,436,259 (GRCm39)	D1302E	probably benign	Het
Mc2r	A	T	18: 68,541,019 (GRCm39)	Y91*	probably null	Het
Meis1	T	G	11: 18,891,747 (GRCm39)	D267A	possibly damaging	Het
Mki67	T	C	7: 135,301,710 (GRCm39)	K1108R	possibly damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myh3	T	G	11: 66,974,915 (GRCm39)	D219E	probably damaging	Het
Niban2	G	A	2: 32,810,994 (GRCm39)	V335M	probably damaging	Het
Or10g1b	T	C	14: 52,628,084 (GRCm39)	I49V	probably damaging	Het
Or7e166	T	C	9: 19,624,570 (GRCm39)	L149P	possibly damaging	Het
Pi4ka	A	G	16: 17,111,817 (GRCm39)	C1553R	probably damaging	Het
Plekhb1	C	A	7: 100,294,150 (GRCm39)		probably null	Het
Polr3d	A	T	14: 70,678,199 (GRCm39)	D165E	possibly damaging	Het
Prb1c	T	C	6: 132,338,819 (GRCm39)	N133S	unknown	Het
Psmb1	A	G	17: 15,710,478 (GRCm39)	Y24H	probably damaging	Het
Rab11fip5	A	G	6: 85,351,119 (GRCm39)	L131P	probably damaging	Het
Raph1	A	T	1: 60,532,657 (GRCm39)		probably benign	Het
Rmc1	A	G	18: 12,322,013 (GRCm39)		probably benign	Het
Scgb2b27	T	G	7: 33,711,484 (GRCm39)		probably benign	Het
Serpina10	T	C	12: 103,592,920 (GRCm39)	D264G	probably damaging	Het
Sftpb	A	G	6: 72,281,651 (GRCm39)	T15A	possibly damaging	Het
Slc20a1	T	C	2: 129,052,739 (GRCm39)	F674L	probably benign	Het
Syne2	A	T	12: 75,985,495 (GRCm39)	N1648Y	probably benign	Het
Thsd7a	G	T	6: 12,332,016 (GRCm39)	N1265K	possibly damaging	Het
Trem2	T	C	17: 48,658,802 (GRCm39)	L189P	probably benign	Het
Washc4	A	T	10: 83,417,201 (GRCm39)	R865S	probably damaging	Het
Zfp536	A	G	7: 37,268,217 (GRCm39)	S400P	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGAGGACATGCACACAGAC -3'
(R):5'- GTCAGTAATGCTGGAGAGCC -3'

Sequencing Primer
(F):5'- GCCCCAGTGCTCTTTGTAAAAGG -3'
(R):5'- CTGGAGAGCCACAGCATGTAC -3'

Posted On

2016-10-05