Incidental Mutation 'R2513:Fasn'
ID 253671
Institutional Source Beutler Lab
Gene Symbol Fasn
Ensembl Gene ENSMUSG00000025153
Gene Name fatty acid synthase
Synonyms A630082H08Rik, FAS
MMRRC Submission 040419-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2513 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 120696672-120715373 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120705574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1149 (L1149Q)
Ref Sequence ENSEMBL: ENSMUSP00000145585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055655] [ENSMUST00000206589]
AlphaFold P19096
Predicted Effect probably damaging
Transcript: ENSMUST00000055655
AA Change: L1149Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052872
Gene: ENSMUSG00000025153
AA Change: L1149Q

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000206589
AA Change: L1149Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206637
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,383,809 (GRCm39) T719A possibly damaging Het
Abcc1 A G 16: 14,290,873 (GRCm39) probably null Het
Aftph C T 11: 20,658,676 (GRCm39) probably null Het
Als2 C A 1: 59,254,276 (GRCm39) K360N probably benign Het
Atg2a T A 19: 6,308,076 (GRCm39) probably null Het
Axl T C 7: 25,486,941 (GRCm39) D22G probably benign Het
Baiap2 G A 11: 119,890,052 (GRCm39) A438T probably benign Het
Bean1 G C 8: 104,908,643 (GRCm39) A7P probably benign Het
Birc6 C G 17: 74,954,724 (GRCm39) P3431R probably damaging Het
Camk1d A G 2: 5,719,047 (GRCm39) M1T probably null Het
Carmil3 T C 14: 55,741,295 (GRCm39) Y1027H probably damaging Het
Ccdc6 G A 10: 70,023,658 (GRCm39) probably benign Het
Cemip C A 7: 83,591,233 (GRCm39) V1280L probably benign Het
Cfap58 C A 19: 47,950,981 (GRCm39) N447K probably benign Het
Chd3 A G 11: 69,251,471 (GRCm39) L520P probably damaging Het
Col1a2 T A 6: 4,531,223 (GRCm39) probably null Het
Cpne7 A C 8: 123,844,406 (GRCm39) probably null Het
Ctla4 T C 1: 60,951,723 (GRCm39) V84A probably damaging Het
Dap3 A G 3: 88,835,565 (GRCm39) V263A probably benign Het
Dhx57 T A 17: 80,549,378 (GRCm39) probably null Het
Dlg5 C A 14: 24,214,593 (GRCm39) K663N probably damaging Het
Dsg3 C A 18: 20,656,719 (GRCm39) F196L possibly damaging Het
Eif2ak4 C A 2: 118,257,064 (GRCm39) D402E probably damaging Het
Fance T C 17: 28,537,068 (GRCm39) V24A probably benign Het
Fcgbpl1 C G 7: 27,831,060 (GRCm39) S91C probably damaging Het
Flg T A 3: 93,187,093 (GRCm39) S182T possibly damaging Het
Gm128 T A 3: 95,147,293 (GRCm39) S334C possibly damaging Het
Gm3727 A C 14: 7,264,561 (GRCm38) H31Q probably damaging Het
Gm4841 T G 18: 60,403,977 (GRCm39) T39P probably damaging Het
Golgb1 G T 16: 36,735,513 (GRCm39) V1587L possibly damaging Het
Golm1 G A 13: 59,790,072 (GRCm39) P243S probably benign Het
Gstcd C A 3: 132,788,081 (GRCm39) A206S possibly damaging Het
Gstcd C A 3: 132,788,082 (GRCm39) K205N possibly damaging Het
Gtf3c1 A G 7: 125,280,345 (GRCm39) V355A probably benign Het
Hhatl T C 9: 121,618,236 (GRCm39) D173G probably benign Het
Kcnu1 T A 8: 26,395,994 (GRCm39) C660S probably benign Het
Kctd8 T C 5: 69,267,988 (GRCm39) D374G probably benign Het
Kif21a T C 15: 90,878,594 (GRCm39) I229V possibly damaging Het
L3mbtl1 A T 2: 162,809,505 (GRCm39) I702F probably benign Het
Lce1d T C 3: 92,593,066 (GRCm39) probably benign Het
Lrig1 C T 6: 94,594,347 (GRCm39) probably null Het
Lrp12 A T 15: 39,739,507 (GRCm39) D563E probably damaging Het
Lrp2 C T 2: 69,336,718 (GRCm39) probably null Het
Map3k5 G A 10: 19,970,201 (GRCm39) V703I possibly damaging Het
Mecr A G 4: 131,581,076 (GRCm39) R110G probably benign Het
Mtrr T A 13: 68,715,092 (GRCm39) K445* probably null Het
Nanos1 T A 19: 60,744,990 (GRCm39) L96Q probably benign Het
Or13a24 T G 7: 140,154,069 (GRCm39) M1R probably null Het
Or51t4 T A 7: 102,598,700 (GRCm39) F333I probably benign Het
Or6c214 T A 10: 129,591,021 (GRCm39) L99F probably damaging Het
Otog T C 7: 45,955,014 (GRCm39) probably null Het
Pcdhb3 G T 18: 37,434,294 (GRCm39) V87F probably benign Het
Pcdhb3 T A 18: 37,434,292 (GRCm39) L86* probably null Het
Pcdhb3 A T 18: 37,434,293 (GRCm39) L86F probably damaging Het
Pdgfd A G 9: 6,359,894 (GRCm39) K322E probably damaging Het
Picalm T C 7: 89,846,217 (GRCm39) S648P probably damaging Het
Pigr T C 1: 130,774,357 (GRCm39) S446P possibly damaging Het
Pik3cb A C 9: 98,943,895 (GRCm39) L636W probably damaging Het
Pla2g2f A T 4: 138,481,473 (GRCm39) L92Q probably damaging Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Prkar2b C T 12: 32,025,928 (GRCm39) V191I possibly damaging Het
Prune1 C A 3: 95,165,430 (GRCm39) A281S probably benign Het
Ptges3l A T 11: 101,314,868 (GRCm39) C42S possibly damaging Het
Reg3b A T 6: 78,348,802 (GRCm39) I33L probably benign Het
Rel A G 11: 23,695,823 (GRCm39) I188T probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ripor1 G T 8: 106,344,254 (GRCm39) V463L probably benign Het
Rrm1 T A 7: 102,109,896 (GRCm39) D510E probably damaging Het
Setd7 A G 3: 51,440,436 (GRCm39) S202P probably damaging Het
Shank3 T A 15: 89,432,889 (GRCm39) D1211E probably benign Het
Slc30a1 A T 1: 191,639,674 (GRCm39) T186S possibly damaging Het
Slc4a4 G A 5: 89,304,257 (GRCm39) V523I probably benign Het
Slc9a2 T A 1: 40,781,768 (GRCm39) probably null Het
Smg6 A G 11: 74,820,502 (GRCm39) T258A probably damaging Het
Sptlc1 C T 13: 53,491,676 (GRCm39) D408N possibly damaging Het
Tasor2 G T 13: 3,632,150 (GRCm39) L784I possibly damaging Het
Tbl3 T C 17: 24,923,524 (GRCm39) probably null Het
Tdo2 T C 3: 81,876,812 (GRCm39) D139G possibly damaging Het
Ticam1 T A 17: 56,578,612 (GRCm39) H161L possibly damaging Het
Tnfaip3 T A 10: 18,881,407 (GRCm39) D293V probably benign Het
Trim72 G A 7: 127,603,878 (GRCm39) V75M possibly damaging Het
Trip11 T A 12: 101,803,986 (GRCm39) N1632I possibly damaging Het
Tspan18 A T 2: 93,050,440 (GRCm39) M61K possibly damaging Het
Tuba8 A T 6: 121,202,932 (GRCm39) E415V probably damaging Het
Ung A G 5: 114,275,253 (GRCm39) H214R probably benign Het
Uqcrc1 T C 9: 108,765,836 (GRCm39) L17P probably damaging Het
Usp24 A G 4: 106,236,602 (GRCm39) probably null Het
Vps39 A C 2: 120,169,268 (GRCm39) Y245D probably damaging Het
Whrn T A 4: 63,353,649 (GRCm39) T373S probably benign Het
Zc2hc1a C T 3: 7,581,596 (GRCm39) probably null Het
Other mutations in Fasn
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- ATCAGAGGGTCTTCTGGCAG -3'
(R):5'- TCTGAAACTCGCCAGACAAGG -3'

Sequencing Primer
(F):5'- AGCAGGAGCCTCTCTTGAG -3'
(R):5'- CAAGGCCTGGACAGTGG -3'
Posted On 2014-12-04