Incidental Mutation 'R6029:Fasn'
ID 480284
Institutional Source Beutler Lab
Gene Symbol Fasn
Ensembl Gene ENSMUSG00000025153
Gene Name fatty acid synthase
Synonyms A630082H08Rik, FAS
MMRRC Submission 044201-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6029 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 120696672-120715373 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 120711735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 148 (F148L)
Ref Sequence ENSEMBL: ENSMUSP00000052872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055655] [ENSMUST00000205905] [ENSMUST00000206589]
AlphaFold P19096
Predicted Effect probably damaging
Transcript: ENSMUST00000055655
AA Change: F148L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052872
Gene: ENSMUSG00000025153
AA Change: F148L

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 possibly damaging
Transcript: ENSMUST00000206589
AA Change: F148L

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
Meta Mutation Damage Score 0.2919 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.7%
Validation Efficiency 97% (87/90)
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
4932414N04Rik G A 2: 68,524,370 (GRCm39) probably null Het
Adi1 G A 12: 28,729,318 (GRCm39) probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Apob A G 12: 8,066,243 (GRCm39) E4371G probably damaging Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Aspm T G 1: 139,408,728 (GRCm39) C2538W possibly damaging Het
Brd10 A G 19: 29,732,367 (GRCm39) probably benign Het
Btbd16 T C 7: 130,420,802 (GRCm39) V353A probably benign Het
Cad C T 5: 31,212,327 (GRCm39) S10L possibly damaging Het
Cdc42bpa T C 1: 179,939,352 (GRCm39) S877P probably damaging Het
Cep152 A T 2: 125,405,552 (GRCm39) V1660D probably benign Het
Clrn2 G T 5: 45,617,528 (GRCm39) G133V probably damaging Het
Clstn2 T C 9: 97,338,634 (GRCm39) I842V probably benign Het
Cpt1c C T 7: 44,614,548 (GRCm39) A434T probably benign Het
D130052B06Rik G T 11: 33,573,477 (GRCm39) V70L possibly damaging Het
Dlg1 T A 16: 31,612,388 (GRCm39) V317E probably damaging Het
Dock10 T C 1: 80,514,663 (GRCm39) E1084G possibly damaging Het
Dync2h1 A G 9: 7,157,646 (GRCm39) V827A probably benign Het
E030030I06Rik A G 10: 22,024,832 (GRCm39) L27P unknown Het
Ero1b T A 13: 12,589,714 (GRCm39) L39Q probably damaging Het
Erp27 T C 6: 136,888,609 (GRCm39) D123G probably damaging Het
Fbxl5 T C 5: 43,922,746 (GRCm39) E218G probably damaging Het
Fbxw28 A T 9: 109,158,493 (GRCm39) D210E probably damaging Het
Gm10653 T A 9: 62,748,796 (GRCm39) probably benign Het
Gm17067 A G 7: 42,357,554 (GRCm39) L316S probably benign Het
Gm29106 T C 1: 118,127,990 (GRCm39) S561P probably damaging Het
Hmcn1 C A 1: 150,508,188 (GRCm39) K3699N probably benign Het
Itch T A 2: 155,021,009 (GRCm39) probably null Het
Itpr3 C T 17: 27,317,145 (GRCm39) A800V probably damaging Het
Kdm2b A T 5: 123,017,650 (GRCm39) M1052K probably damaging Het
Kdm4b T C 17: 56,703,576 (GRCm39) M712T probably damaging Het
Kmt5b A G 19: 3,852,104 (GRCm39) E137G probably damaging Het
Krt33a G A 11: 99,903,289 (GRCm39) T251I probably benign Het
Lrrc4b G T 7: 44,111,754 (GRCm39) R542L probably benign Het
Macf1 C A 4: 123,401,126 (GRCm39) S653I probably damaging Het
Macrod2 G A 2: 142,160,367 (GRCm39) V408M probably damaging Het
Macroh2a2 T C 10: 61,583,541 (GRCm39) T200A possibly damaging Het
Mapkapk3 G T 9: 107,166,425 (GRCm39) A40E possibly damaging Het
Mmp20 G A 9: 7,639,302 (GRCm39) V157I probably benign Het
Mrps28 T C 3: 8,988,805 (GRCm39) R18G possibly damaging Het
Msrb2 T A 2: 19,399,122 (GRCm39) C162S probably damaging Het
Naa80 A G 9: 107,460,753 (GRCm39) Y216C probably damaging Het
Nckap5 T G 1: 125,953,523 (GRCm39) T1078P possibly damaging Het
Nectin3 T C 16: 46,256,763 (GRCm39) Y91C probably benign Het
Nf2 G T 11: 4,734,566 (GRCm39) probably null Het
Or10d1b G A 9: 39,613,696 (GRCm39) A123V probably damaging Het
Or13a23-ps1 A T 7: 140,118,789 (GRCm39) M120L unknown Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2y10 A T 11: 49,455,428 (GRCm39) I227F possibly damaging Het
Or4c29 T C 2: 88,740,380 (GRCm39) D119G probably damaging Het
Or4g7 T A 2: 111,309,310 (GRCm39) Y60* probably null Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Oxr1 T G 15: 41,689,297 (GRCm39) L507W probably damaging Het
Plxna2 A T 1: 194,481,883 (GRCm39) K1451M probably damaging Het
Plxna2 A G 1: 194,476,735 (GRCm39) M1184V probably benign Het
Pofut1 G A 2: 153,101,713 (GRCm39) probably null Het
Ppp1r16b T C 2: 158,597,137 (GRCm39) V257A possibly damaging Het
Prss56 G A 1: 87,115,279 (GRCm39) W498* probably null Het
Ptpru A G 4: 131,498,604 (GRCm39) F1329S probably damaging Het
Pusl1 A G 4: 155,973,920 (GRCm39) F278S probably damaging Het
Qars1 A T 9: 108,390,889 (GRCm39) L470F probably damaging Het
Rbm8a2 T C 1: 175,806,312 (GRCm39) D55G probably benign Het
Rora T A 9: 69,271,734 (GRCm39) N181K probably benign Het
Rufy3 A G 5: 88,775,114 (GRCm39) D262G probably damaging Het
Sh3gl2 G A 4: 85,299,651 (GRCm39) V212M probably damaging Het
Sis G A 3: 72,835,641 (GRCm39) T907I probably benign Het
Slc38a3 A T 9: 107,529,374 (GRCm39) I456N probably damaging Het
Slc4a8 T A 15: 100,705,220 (GRCm39) C809S probably benign Het
Snap91 A T 9: 86,707,133 (GRCm39) probably null Het
Spaca6 A G 17: 18,051,458 (GRCm39) T45A probably benign Het
Speer1m A T 5: 11,970,680 (GRCm39) L84F probably damaging Het
Spry1 T C 3: 37,696,997 (GRCm39) I80T possibly damaging Het
St8sia2 A G 7: 73,610,458 (GRCm39) L275P possibly damaging Het
Supt7l C A 5: 31,684,331 (GRCm39) probably null Het
Tdo2 T A 3: 81,868,747 (GRCm39) K304N probably damaging Het
Tdrd12 A T 7: 35,184,655 (GRCm39) Y753N probably damaging Het
Topbp1 A T 9: 103,222,152 (GRCm39) Q1341L probably benign Het
Trim14 G T 4: 46,506,998 (GRCm39) A406E probably benign Het
Trp63 C T 16: 25,686,964 (GRCm39) R393W probably damaging Het
Trrap T C 5: 144,754,489 (GRCm39) V1932A possibly damaging Het
Trrap T C 5: 144,762,724 (GRCm39) M2399T possibly damaging Het
Unc45b A G 11: 82,804,153 (GRCm39) N110S probably damaging Het
Usp32 G T 11: 84,916,408 (GRCm39) H845Q probably damaging Het
Usp44 G A 10: 93,682,494 (GRCm39) D268N probably damaging Het
Vmn1r18 T G 6: 57,367,451 (GRCm39) R34S possibly damaging Het
Vmn2r103 T A 17: 20,014,478 (GRCm39) Y423* probably null Het
Wapl A T 14: 34,461,204 (GRCm39) E1054V possibly damaging Het
Zbtb8b A G 4: 129,322,286 (GRCm39) Y392H probably damaging Het
Zdhhc2 A T 8: 40,925,968 (GRCm39) Q321L probably null Het
Zfp983 A G 17: 21,881,401 (GRCm39) D443G 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
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'- TCTGTAGTGCCAGCAAGCTG -3'
(R):5'- TTAGAGGTTCACTGTGGCCC -3'

Sequencing Primer
(F):5'- TCCAGGGCAATGCTTGGTC -3'
(R):5'- GATGGCATCTCTCTCACCCAAG -3'
Posted On 2017-06-26