Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02452:Fasn'

293700

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fasn

Ensembl Gene

ENSMUSG00000025153

Gene Name

fatty acid synthase

Synonyms

A630082H08Rik, FAS

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02452

Quality Score

Status

Chromosome

Chromosomal Location

120696672-120715373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120699006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 2424 (D2424E)

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: D2424E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000052872
Gene: ENSMUSG00000025153
AA Change: D2424E

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: D2422E

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

Coding Region Coverage

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	C	A	3: 153,647,607 (GRCm39)	V11F	probably damaging	Het
Alk	A	T	17: 72,209,620 (GRCm39)	Y941*	probably null	Het
Blm	A	T	7: 80,153,125 (GRCm39)		probably null	Het
Blvrb	T	C	7: 27,158,765 (GRCm39)	V55A	possibly damaging	Het
Cdh23	T	A	10: 60,153,721 (GRCm39)	T2288S	probably damaging	Het
Csnk1g1	T	A	9: 65,915,067 (GRCm39)	M242K	probably damaging	Het
Cyp2c29	G	A	19: 39,279,291 (GRCm39)	G96D	possibly damaging	Het
Cyp2d26	T	A	15: 82,676,827 (GRCm39)	H173L	probably benign	Het
Cyp2g1	T	A	7: 26,510,871 (GRCm39)	S131T	probably benign	Het
Dusp29	G	A	14: 21,752,990 (GRCm39)	T52I	probably damaging	Het
Dzip3	T	A	16: 48,758,900 (GRCm39)		probably benign	Het
Espl1	T	C	15: 102,208,274 (GRCm39)	S427P	probably damaging	Het
Flrt2	G	A	12: 95,746,257 (GRCm39)	M198I	probably benign	Het
Gen1	A	T	12: 11,292,576 (GRCm39)	S404R	probably benign	Het
Gm11596	A	T	11: 99,683,806 (GRCm39)	C105S	unknown	Het
Hdlbp	A	T	1: 93,345,233 (GRCm39)	V714D	probably damaging	Het
Igkv4-80	A	G	6: 68,993,816 (GRCm39)	V25A	probably benign	Het
Igkv8-27	C	T	6: 70,148,925 (GRCm39)	W76*	probably null	Het
Ikzf1	T	C	11: 11,698,545 (GRCm39)	L132P	probably damaging	Het
Kcna6	C	A	6: 126,715,443 (GRCm39)	C482F	possibly damaging	Het
Lhx9	A	T	1: 138,769,580 (GRCm39)	L47Q	probably damaging	Het
Lrp4	T	A	2: 91,304,347 (GRCm39)	D175E	probably damaging	Het
Lrrtm3	T	C	10: 63,923,815 (GRCm39)	K451E	probably damaging	Het
Mcm9	C	T	10: 53,417,653 (GRCm39)	V17M	probably damaging	Het
Mios	T	A	6: 8,222,492 (GRCm39)	S475R	probably benign	Het
Mmp24	C	T	2: 155,657,708 (GRCm39)	R533C	probably damaging	Het
Moxd1	C	T	10: 24,158,650 (GRCm39)	P435S	probably damaging	Het
Mta2	T	A	19: 8,927,670 (GRCm39)	I497N	probably benign	Het
Mtus2	T	C	5: 148,014,473 (GRCm39)	V422A	probably benign	Het
Ndufaf1	A	T	2: 119,486,907 (GRCm39)	F260Y	probably damaging	Het
Nfasc	C	T	1: 132,548,662 (GRCm39)		probably null	Het
Nid1	A	T	13: 13,683,305 (GRCm39)	T1128S	probably benign	Het
Odad2	C	T	18: 7,129,461 (GRCm39)	E906K	probably damaging	Het
Or51f1d	A	G	7: 102,701,138 (GRCm39)	D211G	probably benign	Het
Pcdh12	G	A	18: 38,414,746 (GRCm39)	P793L	probably benign	Het
Pclo	A	T	5: 14,726,980 (GRCm39)		probably benign	Het
Prpf31	T	A	7: 3,637,185 (GRCm39)	N161K	possibly damaging	Het
Prpf6	T	G	2: 181,290,878 (GRCm39)	N656K	probably benign	Het
Ptprn	T	A	1: 75,234,813 (GRCm39)	H258L	probably benign	Het
Rab19	A	G	6: 39,366,732 (GRCm39)	T216A	probably benign	Het
Ryr3	A	C	2: 112,664,335 (GRCm39)	L1652W	probably damaging	Het
Six2	A	C	17: 85,992,806 (GRCm39)	S232R	possibly damaging	Het
Spag17	T	C	3: 99,934,707 (GRCm39)	V663A	probably benign	Het
Spag5	A	G	11: 78,195,449 (GRCm39)	N252S	probably benign	Het
Spata31e4	A	T	13: 50,857,113 (GRCm39)	H917L	probably damaging	Het
Sptb	C	T	12: 76,655,810 (GRCm39)		probably null	Het
Synj1	A	G	16: 90,758,253 (GRCm39)		probably benign	Het
Tekt2	T	C	4: 126,218,645 (GRCm39)	H36R	possibly damaging	Het
Tjp1	A	T	7: 64,962,403 (GRCm39)	M1258K	probably damaging	Het
Txnrd3	T	C	6: 89,651,777 (GRCm39)	*502Q	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
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
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

Posted On

2015-04-16