Mutagenetix > Incidental Mutation

Incidental Mutation 'R8711:Fasn'

669592

Institutional Source

Beutler Lab

Gene Symbol

Fasn

Ensembl Gene

ENSMUSG00000025153

Gene Name

fatty acid synthase

Synonyms

A630082H08Rik, FAS

MMRRC Submission

068565-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8711 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120696672-120715373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120709944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 371 (D371G)

Ref Sequence

ENSEMBL: ENSMUSP00000052872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055655] [ENSMUST00000205905] [ENSMUST00000206589]

AlphaFold

P19096

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055655
AA Change: D371G

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000052872
Gene: ENSMUSG00000025153
AA Change: D371G

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: ENSMUST00000205905

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206589
AA Change: D371G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	A	8: 60,969,120 (GRCm39)	S122T	probably benign	Het
Abcb11	G	A	2: 69,095,856 (GRCm39)	T828I	probably damaging	Het
Atp5f1b	T	A	10: 127,921,369 (GRCm39)	N222K	probably damaging	Het
C1qbp	T	C	11: 70,869,313 (GRCm39)	T211A	probably benign	Het
Ccdc85a	A	T	11: 28,384,146 (GRCm39)	S410T	possibly damaging	Het
Chd4	T	A	6: 125,100,485 (GRCm39)		probably benign	Het
Col10a1	G	T	10: 34,270,824 (GRCm39)	K265N	probably damaging	Het
Cyp2j5	A	T	4: 96,529,660 (GRCm39)	M237K	possibly damaging	Het
Cyp4f40	T	C	17: 32,894,962 (GRCm39)		probably benign	Het
Cytip	A	T	2: 58,041,135 (GRCm39)	F90L	probably damaging	Het
Dnah7b	A	G	1: 46,214,598 (GRCm39)	D1121G	probably damaging	Het
Dohh	G	T	10: 81,221,859 (GRCm39)	E84D	probably benign	Het
Efcab3	A	G	11: 104,743,371 (GRCm39)	I2187V	probably benign	Het
Eif1ad19	T	A	12: 87,740,130 (GRCm39)	D143V	unknown	Het
Eif4g2	T	C	7: 110,673,127 (GRCm39)	Y855C	probably damaging	Het
Ell	T	A	8: 71,034,331 (GRCm39)		probably benign	Het
Ermap	T	C	4: 119,044,355 (GRCm39)	Y147C	probably damaging	Het
Fat2	A	G	11: 55,159,129 (GRCm39)	S3348P	probably benign	Het
Fhad1	T	A	4: 141,684,924 (GRCm39)	N472Y	probably benign	Het
Flad1	A	G	3: 89,316,415 (GRCm39)	V49A	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,554 (GRCm39)	T196A	probably benign	Het
Fsip2	A	G	2: 82,815,246 (GRCm39)	N3660D	possibly damaging	Het
Gabrp	T	A	11: 33,505,023 (GRCm39)	L259F	probably damaging	Het
Gm16686	A	T	4: 88,673,473 (GRCm39)	W119R	unknown	Het
Gng2	C	T	14: 19,941,438 (GRCm39)	M1I	probably null	Het
Hmgxb3	T	C	18: 61,290,721 (GRCm39)	N384S	probably benign	Het
Ibtk	T	C	9: 85,606,208 (GRCm39)	I440V	probably benign	Het
Il11ra1	A	G	4: 41,767,539 (GRCm39)	D297G	probably damaging	Het
Irf2bpl	T	C	12: 86,928,496 (GRCm39)	I726V	probably benign	Het
Klk1b5	A	G	7: 43,867,996 (GRCm39)	N56S	probably benign	Het
Laptm4b	T	A	15: 34,277,648 (GRCm39)	V193E	probably damaging	Het
Lrrc37a	A	T	11: 103,388,350 (GRCm39)	C2358*	probably null	Het
Ltbp2	C	T	12: 84,900,515 (GRCm39)	S269N	probably benign	Het
Morc2a	T	G	11: 3,630,013 (GRCm39)	Y450D	probably damaging	Het
Mycbp2	A	T	14: 103,407,430 (GRCm39)	I2740K	probably benign	Het
Naif1	T	A	2: 32,344,848 (GRCm39)	V184E	probably damaging	Het
Neurl1b	T	C	17: 26,660,747 (GRCm39)	V540A	probably damaging	Het
Nt5c1b	T	A	12: 10,431,450 (GRCm39)	F451Y	probably damaging	Het
Obox3	A	G	7: 15,360,148 (GRCm39)	S174P	probably benign	Het
Obscn	T	C	11: 58,951,894 (GRCm39)	E3953G	probably damaging	Het
Or4a74	A	C	2: 89,440,291 (GRCm39)	S52A	probably benign	Het
Or4p19	A	T	2: 88,242,595 (GRCm39)	C136S	probably damaging	Het
Pkd1l1	G	A	11: 8,815,550 (GRCm39)	H1904Y		Het
Plec	C	T	15: 76,059,531 (GRCm39)	D3469N	probably benign	Het
Polr1b	A	G	2: 128,943,064 (GRCm39)	T20A	probably damaging	Het
Ppp1r16b	G	A	2: 158,603,286 (GRCm39)	E404K	possibly damaging	Het
Prkce	T	A	17: 86,795,625 (GRCm39)	N287K	probably damaging	Het
Rchy1	C	A	5: 92,105,397 (GRCm39)	C108F	probably damaging	Het
Scpppq1	G	A	5: 104,219,956 (GRCm39)	T78I	unknown	Het
Sema6d	A	G	2: 124,502,232 (GRCm39)	Y572C	possibly damaging	Het
Sh3rf1	T	A	8: 61,783,030 (GRCm39)	I248K	probably damaging	Het
Sin3b	T	C	8: 73,450,026 (GRCm39)	L30P	probably damaging	Het
Slc25a47	G	A	12: 108,820,313 (GRCm39)	G106S	probably damaging	Het
Slc43a2	A	C	11: 75,457,879 (GRCm39)	M385L	probably benign	Het
Slc43a3	A	G	2: 84,768,671 (GRCm39)	T97A	probably damaging	Het
Slc9b2	T	A	3: 135,030,351 (GRCm39)	S223T	probably benign	Het
Smc5	A	T	19: 23,243,058 (GRCm39)	C118S	probably damaging	Het
Smpdl3b	T	C	4: 132,472,491 (GRCm39)	D94G	probably damaging	Het
Spred3	A	G	7: 28,866,086 (GRCm39)	V71A	possibly damaging	Het
Srsf5	T	A	12: 80,994,328 (GRCm39)	S86T	possibly damaging	Het
Sycp2	A	G	2: 177,990,088 (GRCm39)	V1386A	probably benign	Het
Syne2	T	C	12: 76,104,258 (GRCm39)	L743P	probably damaging	Het
Synj1	A	G	16: 90,806,971 (GRCm39)	V62A	probably damaging	Het
Tbc1d9b	T	C	11: 50,047,578 (GRCm39)	L637P	probably damaging	Het
Tcf12	T	G	9: 71,757,097 (GRCm39)	S697R	possibly damaging	Het
Tnfrsf11b	T	A	15: 54,123,508 (GRCm39)	Y31F	possibly damaging	Het
Trav5n-4	T	C	14: 53,550,362 (GRCm39)	M1T	probably null	Het
Trbv13-2	A	G	6: 41,098,716 (GRCm39)	E97G	probably benign	Het
Trpa1	G	A	1: 14,980,998 (GRCm39)	P135S	probably damaging	Het
Ugt1a6a	A	C	1: 88,066,590 (GRCm39)	D132A	possibly damaging	Het
Vmn2r8	A	T	5: 108,945,962 (GRCm39)	D548E	possibly damaging	Het
Zbtb39	A	T	10: 127,578,815 (GRCm39)	D463V	probably damaging	Het
Zc3h12c	C	T	9: 52,037,858 (GRCm39)		probably benign	Het
Zfp952	C	T	17: 33,222,004 (GRCm39)	P161L	possibly 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
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
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'- ATGCTCACAAAGGCCAGGTC -3'
(R):5'- AAGGGTCTTGGTGCTCAGTACC -3'

Sequencing Primer
(F):5'- AGGTCCTGCACTGCCTCTAAG -3'
(R):5'- TGGTGCTCAGTACCACACACAG -3'

Posted On

2021-04-30