Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02212:Fasn'

285552

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 #

IGL02212

Quality Score

Status

Chromosome

Chromosomal Location

120696672-120715373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120698729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 2489 (I2489N)

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: I2489N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000052872
Gene: ENSMUSG00000025153
AA Change: I2489N

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 damaging
Transcript: ENSMUST00000206589
AA Change: I2487N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,079,233 (GRCm39)	D1079V	probably damaging	Het
Adam18	T	C	8: 25,127,195 (GRCm39)	H467R	probably benign	Het
Ambra1	T	G	2: 91,747,706 (GRCm39)	D1056E	probably damaging	Het
Aoah	A	C	13: 21,187,071 (GRCm39)	N456T	probably benign	Het
Batf2	T	A	19: 6,221,991 (GRCm39)	F267Y	probably damaging	Het
Bbs7	C	T	3: 36,648,558 (GRCm39)	V397I	probably benign	Het
Bbs9	T	A	9: 22,723,808 (GRCm39)	D824E	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Brip1	A	T	11: 86,029,841 (GRCm39)	V601E	possibly damaging	Het
Bub1	A	G	2: 127,647,271 (GRCm39)	F773L	probably damaging	Het
Cadps	A	T	14: 12,522,345 (GRCm38)	D606E	possibly damaging	Het
Cenps	T	G	4: 149,213,303 (GRCm39)	D54A	probably damaging	Het
Cep170	T	A	1: 176,563,502 (GRCm39)	N1504I	probably damaging	Het
Cttnbp2	A	G	6: 18,382,748 (GRCm39)	V1340A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,052,091 (GRCm39)	S667T	probably benign	Het
Defa38	C	T	8: 21,585,276 (GRCm39)		probably benign	Het
Dgkb	A	G	12: 38,189,413 (GRCm39)	Y272C	probably damaging	Het
Dlx3	A	G	11: 95,011,467 (GRCm39)	D107G	probably benign	Het
Drd3	A	T	16: 43,582,675 (GRCm39)	N56I	probably benign	Het
Elavl4	T	A	4: 110,063,609 (GRCm39)	I331F	probably damaging	Het
Fam167a	T	G	14: 63,700,078 (GRCm39)	S213A	probably damaging	Het
Fbxo43	T	C	15: 36,151,957 (GRCm39)	K587E	probably damaging	Het
Fscn2	A	G	11: 120,252,881 (GRCm39)	D116G	probably damaging	Het
Galm	T	C	17: 80,457,546 (GRCm39)	V194A	probably benign	Het
Gpr180	T	A	14: 118,397,588 (GRCm39)	F361I	probably damaging	Het
Gpx2	A	T	12: 76,839,682 (GRCm39)	C105*	probably null	Het
Gsdmc2	A	T	15: 63,699,911 (GRCm39)		probably benign	Het
Hes2	T	G	4: 152,244,982 (GRCm39)	S150R	probably damaging	Het
Ighv1-56	C	T	12: 115,206,417 (GRCm39)		probably benign	Het
Inhbb	A	T	1: 119,345,713 (GRCm39)	V192D	probably benign	Het
Itgal	A	T	7: 126,900,152 (GRCm39)	M137L	probably benign	Het
Jak2	A	G	19: 29,265,382 (GRCm39)	N470D	probably benign	Het
Jph1	T	C	1: 17,161,981 (GRCm39)	E227G	probably damaging	Het
Kcnj6	A	T	16: 94,633,346 (GRCm39)	I237N	probably damaging	Het
Kctd8	G	T	5: 69,498,031 (GRCm39)	P205Q	probably benign	Het
Klhdc1	A	T	12: 69,297,540 (GRCm39)	N37I	probably damaging	Het
Lrp2	T	A	2: 69,281,608 (GRCm39)	H3921L	probably benign	Het
Lrp8os2	T	C	4: 107,664,245 (GRCm39)		probably benign	Het
Man2a2	A	C	7: 80,012,056 (GRCm39)	D700E	probably benign	Het
Mast1	A	T	8: 85,648,026 (GRCm39)	L485Q	probably damaging	Het
Mmp3	A	G	9: 7,450,165 (GRCm39)	D299G	probably damaging	Het
Mptx2	T	A	1: 173,102,248 (GRCm39)	D147V	possibly damaging	Het
Mrpl9	T	A	3: 94,351,124 (GRCm39)		probably null	Het
Mup21	T	G	4: 62,066,829 (GRCm39)	E137A	probably damaging	Het
Mutyh	T	A	4: 116,672,803 (GRCm39)	V52D	probably damaging	Het
Nalcn	T	A	14: 123,752,742 (GRCm39)	S340C	probably damaging	Het
Neb	A	G	2: 52,198,323 (GRCm39)	Y474H	probably damaging	Het
Nol8	A	G	13: 49,815,626 (GRCm39)	E560G	possibly damaging	Het
Ntn4	A	G	10: 93,480,711 (GRCm39)	D145G	possibly damaging	Het
Nup93	G	A	8: 95,038,290 (GRCm39)		probably null	Het
Or1j17	A	G	2: 36,578,194 (GRCm39)	Y60C	probably damaging	Het
Or2n1b	C	A	17: 38,459,746 (GRCm39)	T89K	probably benign	Het
Or2y14	A	T	11: 49,404,737 (GRCm39)	I91F	probably damaging	Het
Or52b2	C	T	7: 104,986,350 (GRCm39)	C191Y	probably damaging	Het
Pcdhb8	T	A	18: 37,489,465 (GRCm39)	V40E	possibly damaging	Het
Peg3	C	T	7: 6,714,415 (GRCm39)	R269H	probably benign	Het
Piwil1	T	A	5: 128,827,334 (GRCm39)	F648I	possibly damaging	Het
Psd4	A	T	2: 24,295,326 (GRCm39)	K827*	probably null	Het
Retsat	T	A	6: 72,578,693 (GRCm39)	L135*	probably null	Het
Rtp3	A	G	9: 110,816,389 (GRCm39)		probably benign	Het
Samd14	A	G	11: 94,914,176 (GRCm39)	Y305C	probably damaging	Het
Satb1	T	A	17: 52,082,319 (GRCm39)	Q445L	possibly damaging	Het
Shbg	A	G	11: 69,508,035 (GRCm39)	L110P	probably damaging	Het
Slc17a6	T	A	7: 51,317,218 (GRCm39)	I413N	possibly damaging	Het
Slu7	A	T	11: 43,331,469 (GRCm39)	Q201L	probably benign	Het
Spg11	T	C	2: 121,938,638 (GRCm39)	T439A	probably benign	Het
Sstr5	A	T	17: 25,710,647 (GRCm39)	L194Q	possibly damaging	Het
Tjp2	A	T	19: 24,116,150 (GRCm39)	L13Q	probably damaging	Het
Tnk2	G	A	16: 32,498,960 (GRCm39)	V758I	probably damaging	Het
Ttll8	C	A	15: 88,801,450 (GRCm39)	V413L	probably benign	Het
Wiz	T	C	17: 32,587,109 (GRCm39)	D67G	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
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
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