Incidental Mutation 'R1498:Fasn'
ID 169061
Institutional Source Beutler Lab
Gene Symbol Fasn
Ensembl Gene ENSMUSG00000025153
Gene Name fatty acid synthase
Synonyms A630082H08Rik, FAS
MMRRC Submission 039549-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1498 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 120696672-120715373 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120706245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1033 (T1033I)
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: T1033I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052872
Gene: ENSMUSG00000025153
AA Change: T1033I

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: T1033I

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206637
Meta Mutation Damage Score 0.3822 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
Validation Efficiency 97% (83/86)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A G 11: 100,374,627 (GRCm39) S799P probably benign Het
Acvr1b T C 15: 101,091,891 (GRCm39) F57S probably benign Het
Adamts5 T A 16: 85,696,990 (GRCm39) T56S possibly damaging Het
Adrb2 T C 18: 62,312,004 (GRCm39) T274A probably damaging Het
Agr3 A T 12: 35,984,379 (GRCm39) probably null Het
Ankrd6 A G 4: 32,810,289 (GRCm39) M405T probably benign Het
Aoc1l2 A G 6: 48,908,305 (GRCm39) H435R probably benign Het
Aqp5 T C 15: 99,491,128 (GRCm39) I60T probably damaging Het
Arf5 G T 6: 28,426,153 (GRCm39) R180L probably benign Het
Asap3 A G 4: 135,966,505 (GRCm39) N528D probably benign Het
Atmin G A 8: 117,681,540 (GRCm39) E180K probably benign Het
Bcl11a A T 11: 24,114,005 (GRCm39) E449D probably damaging Het
Cep128 A T 12: 91,333,191 (GRCm39) F25I probably benign Het
Cfp GCAC GC X: 20,795,905 (GRCm39) probably null Het
Chpt1 T A 10: 88,312,966 (GRCm39) Y282F possibly damaging Het
Cul7 A G 17: 46,966,636 (GRCm39) D355G probably benign Het
Daxx T C 17: 34,131,227 (GRCm39) Y385H probably damaging Het
Dnah2 A C 11: 69,411,493 (GRCm39) probably null Het
Dscc1 CTGAATGAAT CTGAAT 15: 54,943,572 (GRCm39) probably benign Het
Erc2 T A 14: 28,024,855 (GRCm39) M578K probably benign Het
Evc T A 5: 37,481,044 (GRCm39) H267L possibly damaging Het
Exosc10 A C 4: 148,666,243 (GRCm39) Q837P possibly damaging Het
Fat1 C A 8: 45,478,521 (GRCm39) Y2522* probably null Het
Fbxw8 G A 5: 118,203,850 (GRCm39) probably benign Het
Fyn A G 10: 39,408,120 (GRCm39) D321G possibly damaging Het
Grm6 G A 11: 50,748,083 (GRCm39) V398M probably damaging Het
Gtpbp1 T A 15: 79,603,222 (GRCm39) probably null Het
Hnf1a A G 5: 115,108,596 (GRCm39) V103A probably damaging Het
Hsp90aa1 A T 12: 110,662,122 (GRCm39) probably null Het
Iqgap2 C T 13: 95,783,313 (GRCm39) V1288I probably benign Het
Irx5 A G 8: 93,086,514 (GRCm39) D199G probably damaging Het
Klrh1 A G 6: 129,748,703 (GRCm39) S105P probably damaging Het
Krt9 G T 11: 100,079,195 (GRCm39) C732* probably null Het
Lifr T C 15: 7,220,099 (GRCm39) S910P probably damaging Het
Lrig1 G A 6: 94,604,968 (GRCm39) A209V possibly damaging Het
Lrrk1 T A 7: 65,952,419 (GRCm39) R506* probably null Het
Lyst T A 13: 13,824,960 (GRCm39) I1525K possibly damaging Het
Mad2l1 C T 6: 66,516,826 (GRCm39) Q173* probably null Het
Mcoln1 T A 8: 3,562,861 (GRCm39) I524N probably damaging Het
Mmp3 A T 9: 7,446,967 (GRCm39) D49V possibly damaging Het
Morc3 A T 16: 93,650,743 (GRCm39) N321I probably damaging Het
Mrpl48 T C 7: 100,195,695 (GRCm39) probably benign Het
Myo6 T A 9: 80,214,961 (GRCm39) D1231E probably damaging Het
Nlrc4 A G 17: 74,753,408 (GRCm39) I325T probably benign Het
Or1j19 A T 2: 36,677,358 (GRCm39) I274F probably damaging Het
Or2ag17 T C 7: 106,389,623 (GRCm39) Y195C possibly damaging Het
Or4f61 A T 2: 111,922,938 (GRCm39) M36K probably benign Het
Or8c16 C G 9: 38,130,676 (GRCm39) P183A probably damaging Het
Or8k32 A G 2: 86,368,902 (GRCm39) V117A probably benign Het
Parvg T A 15: 84,218,832 (GRCm39) S230T possibly damaging Het
Pcca T C 14: 122,854,230 (GRCm39) I118T probably damaging Het
Pde6a A G 18: 61,365,932 (GRCm39) N219S possibly damaging Het
Phldb1 G T 9: 44,612,915 (GRCm39) P935Q possibly damaging Het
Plppr5 T C 3: 117,456,261 (GRCm39) S261P probably damaging Het
Ppl T C 16: 4,922,629 (GRCm39) N260S probably benign Het
Ppp1r3e A T 14: 55,113,882 (GRCm39) H263Q probably benign Het
Ppp3cb T C 14: 20,559,567 (GRCm39) probably null Het
Ppt2 A T 17: 34,842,075 (GRCm39) D185E probably benign Het
Prr27 A T 5: 87,998,600 (GRCm39) probably benign Het
Ptcd3 A T 6: 71,870,479 (GRCm39) V327E probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Rtp1 A T 16: 23,249,970 (GRCm39) M112L probably benign Het
Slc22a5 A T 11: 53,760,140 (GRCm39) L392Q probably damaging Het
Slc6a7 A G 18: 61,129,764 (GRCm39) I614T probably benign Het
Slu7 C A 11: 43,329,044 (GRCm39) P89T possibly damaging Het
Smarcc2 T C 10: 128,318,061 (GRCm39) V618A probably benign Het
Sorl1 C T 9: 41,952,369 (GRCm39) R729Q probably damaging Het
Sptbn2 T C 19: 4,794,274 (GRCm39) F1493L possibly damaging Het
Sulf1 C T 1: 12,918,574 (GRCm39) T66I probably damaging Het
Tgtp2 A G 11: 48,950,165 (GRCm39) Y136H probably damaging Het
Tmem117 T C 15: 94,536,242 (GRCm39) F92S probably damaging Het
Tmprss9 T A 10: 80,730,934 (GRCm39) V820E probably benign Het
Tpcn2 A G 7: 144,822,648 (GRCm39) Y266H probably damaging Het
Trat1 A G 16: 48,555,304 (GRCm39) S143P probably benign Het
Vmn1r49 T A 6: 90,049,298 (GRCm39) R235W probably damaging Het
Vmn1r71 A T 7: 10,482,575 (GRCm39) C38S probably benign Het
Vmn2r6 T A 3: 64,463,890 (GRCm39) T315S probably damaging Het
Wdr36 A G 18: 32,986,021 (GRCm39) D575G possibly damaging Het
Zfp292 G T 4: 34,805,397 (GRCm39) A2549E possibly damaging Het
Zfp354a A T 11: 50,961,073 (GRCm39) H426L probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp648 T A 1: 154,081,119 (GRCm39) I426N probably damaging Het
Zfp87 T C 13: 74,520,736 (GRCm39) N114S 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
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
Predicted Primers PCR Primer
(F):5'- TGAGATGTGGATACCACCAGAGACC -3'
(R):5'- GTCAGTGAGCATGACTGCCAGAAG -3'

Sequencing Primer
(F):5'- TTGTCACATCAGCCACTATGGAG -3'
(R):5'- TGACTGCCAGAAGCCATGTC -3'
Posted On 2014-04-13