Mutagenetix > Incidental Mutation

Incidental Mutation 'R3434:Fasn'

266360

Institutional Source

Beutler Lab

Gene Symbol

Fasn

Ensembl Gene

ENSMUSG00000025153

Gene Name

fatty acid synthase

Synonyms

FAS, A630082H08Rik

MMRRC Submission

040652-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120805846-120824547 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120822773 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 24 (A24V)

Ref Sequence

ENSEMBL: ENSMUSP00000146068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055655] [ENSMUST00000056781] [ENSMUST00000205905] [ENSMUST00000206589]

AlphaFold

P19096

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055655
AA Change: A24V

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

SMART Domains

Protein: ENSMUSP00000052872
Gene: ENSMUSG00000025153
AA Change: A24V

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: ENSMUST00000056781

SMART Domains

Protein: ENSMUSP00000050996
Gene: ENSMUSG00000048445

Domain	Start	End	E-Value	Type
coiled coil region	14	174	N/A	INTRINSIC
coiled coil region	198	350	N/A	INTRINSIC
low complexity region	356	365	N/A	INTRINSIC
coiled coil region	380	489	N/A	INTRINSIC
coiled coil region	519	548	N/A	INTRINSIC
coiled coil region	575	607	N/A	INTRINSIC
low complexity region	620	639	N/A	INTRINSIC
internal_repeat_1	657	677	1.17e-5	PROSPERO
low complexity region	763	774	N/A	INTRINSIC
low complexity region	787	798	N/A	INTRINSIC
internal_repeat_1	863	883	1.17e-5	PROSPERO
low complexity region	915	923	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150640

Predicted Effect

probably damaging
Transcript: ENSMUST00000205905
AA Change: A24V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206589
AA Change: A24V

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

98% (54/55)

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
Abca17	G	A	17: 24,289,537	A1008V	probably damaging	Het
Adora3	A	G	3: 105,904,915	K39R	probably benign	Het
Ankib1	A	G	5: 3,692,760	V1085A	probably damaging	Het
Atp7a	G	A	X: 106,094,857	R563K	probably benign	Het
Azin1	T	C	15: 38,493,576	I268V	probably benign	Het
Carm1	T	C	9: 21,569,473	F81S	probably damaging	Het
Ccnjl	A	G	11: 43,579,861	Y152C	probably damaging	Het
Chrna3	T	A	9: 55,024,326	I61F	possibly damaging	Het
Clca3a2	G	A	3: 144,808,761		probably benign	Het
Clstn2	T	A	9: 97,454,715	D903V	probably benign	Het
Dpysl3	C	T	18: 43,361,061	V70I	probably benign	Het
Drg2	A	T	11: 60,461,392	K180*	probably null	Het
Dync2h1	A	C	9: 7,011,236	H3659Q	probably benign	Het
Dysf	A	T	6: 84,070,888	Y349F	probably benign	Het
Epb41l4b	T	C	4: 57,040,865	N533D	probably benign	Het
Fam47e	T	A	5: 92,585,362	V152D	probably damaging	Het
Fhl4	T	C	10: 85,098,444	T158A	probably benign	Het
Fnbp1l	C	T	3: 122,546,306	R499Q	probably damaging	Het
Hdlbp	A	T	1: 93,428,161	M358K	probably benign	Het
Ift74	A	G	4: 94,621,852		probably null	Het
Lhx4	A	G	1: 155,702,401	Y332H	probably damaging	Het
Mast2	A	T	4: 116,308,095	S1314T	probably benign	Het
Mast4	A	G	13: 102,787,379	I508T	probably damaging	Het
Mdn1	T	C	4: 32,733,726		probably null	Het
Mrps23	A	G	11: 88,210,114	K44E	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mup6	G	T	4: 60,004,116		probably null	Het
Notch3	A	T	17: 32,158,618	D161E	possibly damaging	Het
Olfr1131	T	C	2: 87,629,074	F204L	probably benign	Het
Olfr1200	T	C	2: 88,768,069	D82G	probably damaging	Het
Olfr695	A	T	7: 106,873,769	Y159N	probably benign	Het
P2rx4	T	A	5: 122,725,070	I202K	probably damaging	Het
Phykpl	A	G	11: 51,598,655	T363A	probably benign	Het
Pitpnm1	G	A	19: 4,112,234	A1047T	probably damaging	Het
Ppat	A	G	5: 76,918,065	I402T	probably damaging	Het
Rpgr	A	G	X: 10,176,602	S656P	probably benign	Het
Rsbn1l	T	C	5: 20,905,930		probably benign	Het
Sacs	A	G	14: 61,212,303	K3933E	probably damaging	Het
Scn7a	T	C	2: 66,675,503	I1681V	probably benign	Het
Sel1l3	T	C	5: 53,117,090	D1016G	probably benign	Het
Sf3a3	C	A	4: 124,725,077	T277N	possibly damaging	Het
Slc35a5	A	G	16: 45,144,033	I279T	probably benign	Het
Slc39a10	T	C	1: 46,835,717	T142A	probably benign	Het
Tle3	T	A	9: 61,414,094		probably null	Het
Tmem117	T	C	15: 95,094,692	I411T	probably damaging	Het
Ttn	T	C	2: 76,868,377	T5A	possibly damaging	Het
Tubgcp3	T	C	8: 12,658,381		probably null	Het
Ush2a	C	T	1: 188,733,758	P2841L	probably damaging	Het
Vmn1r209	A	T	13: 22,806,097	M141K	probably benign	Het
Vmn2r91	A	T	17: 18,110,108		probably benign	Het

Other mutations in Fasn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Fasn	APN	11	120820539	missense	probably damaging	1.00
IGL01014:Fasn	APN	11	120817229	missense	probably damaging	0.99
IGL01131:Fasn	APN	11	120814619	missense	probably benign	0.01
IGL01603:Fasn	APN	11	120816065	missense	probably damaging	0.99
IGL01606:Fasn	APN	11	120809023	critical splice donor site	probably null
IGL01897:Fasn	APN	11	120807939	missense	probably damaging	1.00
IGL01899:Fasn	APN	11	120820149	splice site	probably benign
IGL01987:Fasn	APN	11	120818073	missense	probably damaging	1.00
IGL02103:Fasn	APN	11	120811936	missense	probably damaging	1.00
IGL02212:Fasn	APN	11	120807903	missense	probably damaging	1.00
IGL02294:Fasn	APN	11	120810276	missense	probably damaging	0.98
IGL02336:Fasn	APN	11	120813736	missense	possibly damaging	0.48
IGL02417:Fasn	APN	11	120820340	missense	probably damaging	1.00
IGL02452:Fasn	APN	11	120808180	missense	probably benign	0.00
IGL02559:Fasn	APN	11	120809066	missense	possibly damaging	0.51
IGL02724:Fasn	APN	11	120809833	missense	probably benign	0.41
IGL02862:Fasn	APN	11	120818979	missense	possibly damaging	0.89
IGL02947:Fasn	APN	11	120815676	missense	probably damaging	0.99
IGL03025:Fasn	APN	11	120818148	missense	probably benign	0.01
IGL03131:Fasn	APN	11	120810724	missense	possibly damaging	0.93
IGL03157:Fasn	APN	11	120807909	missense	probably benign	0.12
IGL03182:Fasn	APN	11	120812726	missense	probably damaging	1.00
IGL03370:Fasn	APN	11	120812795	missense	possibly damaging	0.95
BB007:Fasn	UTSW	11	120809235	missense	probably benign
BB017:Fasn	UTSW	11	120809235	missense	probably benign
R0019:Fasn	UTSW	11	120807998	splice site	probably benign
R0019:Fasn	UTSW	11	120807998	splice site	probably benign
R0243:Fasn	UTSW	11	120815315	missense	probably benign	0.00
R0304:Fasn	UTSW	11	120819936	missense	possibly damaging	0.85
R0389:Fasn	UTSW	11	120816182	missense	probably damaging	1.00
R0449:Fasn	UTSW	11	120811068	missense	probably benign
R0626:Fasn	UTSW	11	120811925	missense	probably damaging	0.99
R1037:Fasn	UTSW	11	120809451	missense	probably benign
R1061:Fasn	UTSW	11	120822182	splice site	probably null
R1109:Fasn	UTSW	11	120812324	missense	possibly damaging	0.77
R1467:Fasn	UTSW	11	120811040	missense	probably benign	0.07
R1467:Fasn	UTSW	11	120811040	missense	probably benign	0.07
R1498:Fasn	UTSW	11	120815419	missense	probably damaging	0.98
R1552:Fasn	UTSW	11	120818558	missense	probably damaging	1.00
R1568:Fasn	UTSW	11	120813249	missense	possibly damaging	0.78
R1624:Fasn	UTSW	11	120813111	missense	probably damaging	1.00
R1774:Fasn	UTSW	11	120817171	missense	probably damaging	1.00
R1826:Fasn	UTSW	11	120808499	splice site	probably benign
R1846:Fasn	UTSW	11	120813307	missense	probably benign	0.00
R2298:Fasn	UTSW	11	120813816	missense	possibly damaging	0.78
R2513:Fasn	UTSW	11	120814748	missense	probably damaging	1.00
R3001:Fasn	UTSW	11	120809845	missense	probably benign
R3002:Fasn	UTSW	11	120809845	missense	probably benign
R3154:Fasn	UTSW	11	120807939	missense	probably damaging	1.00
R4794:Fasn	UTSW	11	120811295	missense	probably benign	0.36
R4840:Fasn	UTSW	11	120813059	missense	possibly damaging	0.83
R4863:Fasn	UTSW	11	120808828	missense	probably damaging	1.00
R4876:Fasn	UTSW	11	120812312	missense	probably damaging	1.00
R4914:Fasn	UTSW	11	120816646	missense	probably benign	0.39
R4915:Fasn	UTSW	11	120816646	missense	probably benign	0.39
R4916:Fasn	UTSW	11	120816646	missense	probably benign	0.39
R4918:Fasn	UTSW	11	120816646	missense	probably benign	0.39
R4936:Fasn	UTSW	11	120816085	missense	probably damaging	1.00
R5025:Fasn	UTSW	11	120811908	missense	probably benign	0.00
R5092:Fasn	UTSW	11	120815036	missense	probably benign	0.00
R5120:Fasn	UTSW	11	120811391	missense	probably benign	0.22
R5175:Fasn	UTSW	11	120816369	missense	probably benign	0.14
R5183:Fasn	UTSW	11	120808882	missense	probably benign	0.44
R5506:Fasn	UTSW	11	120809510	missense	probably benign	0.26
R5557:Fasn	UTSW	11	120812426	missense	probably benign	0.10
R5614:Fasn	UTSW	11	120813328	missense	probably benign
R5728:Fasn	UTSW	11	120813513	missense	probably benign	0.06
R5838:Fasn	UTSW	11	120816124	missense	probably damaging	0.98
R5959:Fasn	UTSW	11	120808564	missense	probably damaging	0.99
R6029:Fasn	UTSW	11	120820909	missense	probably damaging	1.00
R6134:Fasn	UTSW	11	120822186	missense	probably benign	0.05
R6335:Fasn	UTSW	11	120815359	missense	probably damaging	0.96
R6452:Fasn	UTSW	11	120815411	missense	probably damaging	1.00
R6627:Fasn	UTSW	11	120818927	missense	probably benign	0.10
R6742:Fasn	UTSW	11	120810453	missense	probably damaging	0.96
R6767:Fasn	UTSW	11	120817487	missense	possibly damaging	0.62
R6927:Fasn	UTSW	11	120808289	missense	probably benign	0.03
R6976:Fasn	UTSW	11	120819867	missense	probably damaging	1.00
R7092:Fasn	UTSW	11	120820120	missense	possibly damaging	0.56
R7157:Fasn	UTSW	11	120810465	nonsense	probably null
R7373:Fasn	UTSW	11	120813976	missense	possibly damaging	0.81
R7575:Fasn	UTSW	11	120812687	missense	possibly damaging	0.93
R7652:Fasn	UTSW	11	120816328	missense	probably damaging	0.97
R7670:Fasn	UTSW	11	120813419	missense	probably damaging	1.00
R7806:Fasn	UTSW	11	120809995	missense	probably benign	0.00
R7930:Fasn	UTSW	11	120809235	missense	probably benign
R8007:Fasn	UTSW	11	120809527	missense	probably benign
R8012:Fasn	UTSW	11	120811602	missense	probably damaging	1.00
R8185:Fasn	UTSW	11	120812143	missense	probably benign	0.42
R8557:Fasn	UTSW	11	120815784	missense	probably benign	0.23
R8711:Fasn	UTSW	11	120819118	missense	possibly damaging	0.93
R8772:Fasn	UTSW	11	120820536	missense	probably benign
R8856:Fasn	UTSW	11	120818153	missense	possibly damaging	0.58
R8875:Fasn	UTSW	11	120812398	missense	possibly damaging	0.83
R9071:Fasn	UTSW	11	120817498	missense	probably damaging	1.00
R9153:Fasn	UTSW	11	120815670	missense	possibly damaging	0.83
R9238:Fasn	UTSW	11	120815045	missense	probably benign
R9249:Fasn	UTSW	11	120813089	missense	probably benign
R9345:Fasn	UTSW	11	120815909	missense	probably benign	0.22
X0067:Fasn	UTSW	11	120816303	critical splice donor site	probably null
Z1177:Fasn	UTSW	11	120815471	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGGATCAACCAAGTCACCTG -3'
(R):5'- TCTGCTAGTTTCCACTGGGG -3'

Sequencing Primer
(F):5'- AACCAAGTCACCTGTCCCTTTTC -3'
(R):5'- CCACTGGGGGCTTTCTGAG -3'

Posted On

2015-02-18