Incidental Mutation 'R7092:Fasn'
ID 550309
Institutional Source Beutler Lab
Gene Symbol Fasn
Ensembl Gene ENSMUSG00000025153
Gene Name fatty acid synthase
Synonyms A630082H08Rik, FAS
MMRRC Submission 045186-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7092 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 120696672-120715373 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 120710946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 268 (V268G)
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: V268G

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000052872
Gene: ENSMUSG00000025153
AA Change: V268G

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 benign
Transcript: ENSMUST00000205905
Predicted Effect probably benign
Transcript: ENSMUST00000206589
AA Change: V268G

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (88/89)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik C T 3: 137,889,506 (GRCm39) C37Y probably benign Het
A430005L14Rik T A 4: 154,045,451 (GRCm39) probably null Het
Aadacl2fm3 T C 3: 59,768,500 (GRCm39) F10S probably benign Het
Abca4 C G 3: 121,932,218 (GRCm39) P1499A probably damaging Het
Adcy8 T C 15: 64,743,619 (GRCm39) N330D possibly damaging Het
Arfgef1 A G 1: 10,223,901 (GRCm39) Y1466H probably damaging Het
Asz1 A C 6: 18,071,818 (GRCm39) probably null Het
Atad5 T A 11: 80,011,546 (GRCm39) N1307K possibly damaging Het
B4galnt4 C A 7: 140,648,549 (GRCm39) F688L probably damaging Het
Birc6 C T 17: 74,953,740 (GRCm39) T3349I probably damaging Het
Ccp110 C A 7: 118,334,494 (GRCm39) A989E probably benign Het
Ccser2 A G 14: 36,662,612 (GRCm39) S191P probably benign Het
Cdca2 A G 14: 67,944,800 (GRCm39) probably null Het
Cdcp1 T A 9: 123,012,678 (GRCm39) T290S probably benign Het
Cep43 C T 17: 8,391,802 (GRCm39) P161S probably benign Het
Clec2m T A 6: 129,299,963 (GRCm39) T172S probably benign Het
Cnnm1 T C 19: 43,430,387 (GRCm39) Y502H probably damaging Het
Cyba T G 8: 123,154,437 (GRCm39) T29P probably damaging Het
Dcaf12 A T 4: 41,301,366 (GRCm39) I190N probably damaging Het
Depp1 C A 6: 116,628,749 (GRCm39) P31T probably damaging Het
Epha1 T C 6: 42,341,179 (GRCm39) T512A probably benign Het
Fancg G A 4: 43,004,831 (GRCm39) P454L probably benign Het
Fip1l1 T A 5: 74,697,504 (GRCm39) L42Q probably damaging Het
Fjx1 A G 2: 102,281,101 (GRCm39) L278P possibly damaging Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
Fundc2b T A 3: 40,856,809 (GRCm39) D22V possibly damaging Het
Gm1527 T A 3: 28,968,696 (GRCm39) probably null Het
Gng3 T A 19: 8,815,611 (GRCm39) M42L probably benign Het
Gsdmc2 T A 15: 63,696,947 (GRCm39) Q408L probably damaging Het
Gtpbp3 T A 8: 71,944,909 (GRCm39) I388K probably benign Het
Hmcn1 A T 1: 150,479,997 (GRCm39) W4534R probably damaging Het
Inhca G A 9: 103,158,242 (GRCm39) S106L possibly damaging Het
Ist1 A T 8: 110,409,228 (GRCm39) probably null Het
Kifbp C A 10: 62,414,079 (GRCm39) K26N probably damaging Het
Kyat3 T C 3: 142,435,556 (GRCm39) I276T probably damaging Het
Lipm C T 19: 34,098,758 (GRCm39) P411S possibly damaging Het
Lipo3 T C 19: 33,591,092 (GRCm39) probably null Het
Lrrc9 C A 12: 72,510,238 (GRCm39) Q446K possibly damaging Het
Mfsd4a G T 1: 131,995,401 (GRCm39) T77N probably benign Het
Mmp1b T A 9: 7,386,981 (GRCm39) D77V probably damaging Het
Mrgprb4 A G 7: 47,847,984 (GRCm39) S315P probably benign Het
Mroh2b C A 15: 4,964,160 (GRCm39) N887K possibly damaging Het
Mto1 A G 9: 78,377,955 (GRCm39) K599R probably benign Het
Muc5ac T C 7: 141,363,385 (GRCm39) probably benign Het
Muc5ac G C 7: 141,363,424 (GRCm39) probably benign Het
Mylk2 A G 2: 152,757,110 (GRCm39) N295S probably benign Het
Nr1i3 G A 1: 171,041,747 (GRCm39) probably null Het
Nup107 T C 10: 117,626,399 (GRCm39) K25E probably damaging Het
Odc1 G A 12: 17,598,314 (GRCm39) V152I possibly damaging Het
Or13a20 G A 7: 140,232,150 (GRCm39) G86D probably benign Het
Or1l4b T A 2: 37,036,623 (GRCm39) M133K probably damaging Het
Or5m10b A T 2: 85,698,951 (GRCm39) N5I probably damaging Het
Or7g16 G A 9: 18,727,353 (GRCm39) P79L probably damaging Het
Pde1b G T 15: 103,435,458 (GRCm39) V438L probably benign Het
Pde4b G A 4: 102,459,048 (GRCm39) V523M probably damaging Het
Pdgfc C T 3: 81,111,659 (GRCm39) P205S probably damaging Het
Per2 A G 1: 91,349,153 (GRCm39) S1073P probably damaging Het
Plekhg5 C T 4: 152,198,965 (GRCm39) T1051I probably damaging Het
Ppme1 A T 7: 100,021,029 (GRCm39) M1K probably null Het
Prokr2 A T 2: 132,223,236 (GRCm39) V102D possibly damaging Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Ptprh C A 7: 4,583,860 (GRCm39) probably null Het
Rbsn T C 6: 92,166,607 (GRCm39) N679S probably damaging Het
Rce1 T C 19: 4,673,118 (GRCm39) T303A probably damaging Het
Rnf123 C A 9: 107,945,799 (GRCm39) R329L probably benign Het
Robo2 T A 16: 73,753,531 (GRCm39) N782I probably damaging Het
Ror2 A C 13: 53,264,272 (GRCm39) V940G probably benign Het
Rpe65 C T 3: 159,321,228 (GRCm39) R347C probably damaging Het
Rrp8 A T 7: 105,383,316 (GRCm39) F317I probably damaging Het
Sidt1 A G 16: 44,120,192 (GRCm39) V163A possibly damaging Het
Sin3b T C 8: 73,474,498 (GRCm39) probably null Het
Slamf1 A G 1: 171,604,757 (GRCm39) T176A probably benign Het
Slc12a4 G T 8: 106,671,855 (GRCm39) A922D probably damaging Het
Slco1a5 T A 6: 142,194,401 (GRCm39) Q414L probably benign Het
Snx11 C A 11: 96,663,665 (GRCm39) R58L probably damaging Het
Sp9 A G 2: 73,104,115 (GRCm39) D223G probably damaging Het
Sptbn1 T C 11: 30,087,119 (GRCm39) I1107V possibly damaging Het
Stap2 T C 17: 56,309,954 (GRCm39) R66G probably benign Het
Synrg T G 11: 83,899,683 (GRCm39) F552V possibly damaging Het
Trim60 C T 8: 65,453,700 (GRCm39) R183H probably benign Het
Ttn T C 2: 76,733,760 (GRCm39) D4505G unknown Het
Ubxn4 A G 1: 128,179,959 (GRCm39) I34M probably benign Het
Vac14 T A 8: 111,442,128 (GRCm39) M702K probably damaging Het
Vmn1r43 T C 6: 89,846,885 (GRCm39) I200M probably benign Het
Vmn2r108 T A 17: 20,701,338 (GRCm39) Y54F probably benign Het
Vps13b T C 15: 35,640,780 (GRCm39) Y1382H probably damaging Het
Wdr72 T C 9: 74,117,754 (GRCm39) I834T probably damaging Het
Zfp970 T A 2: 177,167,085 (GRCm39) C220S probably damaging Het
Zkscan5 T G 5: 145,156,899 (GRCm39) I467S probably benign 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
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
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'- GGACCGAGTAATGCCATTCAG -3'
(R):5'- TCTATGCCACGATTCTGAATGCC -3'

Sequencing Primer
(F):5'- CGAGTAATGCCATTCAGTTCCTGG -3'
(R):5'- ACGATTCTGAATGCCGGCAC -3'
Posted On 2019-05-15