Incidental Mutation 'R4876:Fasn'
ID 376903
Institutional Source Beutler Lab
Gene Symbol Fasn
Ensembl Gene ENSMUSG00000025153
Gene Name fatty acid synthase
Synonyms A630082H08Rik, FAS
MMRRC Submission 042485-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4876 (G1)
Quality Score 204
Status Validated
Chromosome 11
Chromosomal Location 120696672-120715373 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120703138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1629 (V1629A)
Ref Sequence ENSEMBL: ENSMUSP00000052872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055655] [ENSMUST00000055655] [ENSMUST00000206589] [ENSMUST00000206589]
AlphaFold P19096
Predicted Effect probably damaging
Transcript: ENSMUST00000055655
AA Change: V1629A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052872
Gene: ENSMUSG00000025153
AA Change: V1629A

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: ENSMUST00000055655
AA Change: V1629A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052872
Gene: ENSMUSG00000025153
AA Change: V1629A

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 noncoding transcript
Transcript: ENSMUST00000146541
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155276
Predicted Effect possibly damaging
Transcript: ENSMUST00000206589
AA Change: V1627A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000206589
AA Change: V1627A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206637
Meta Mutation Damage Score 0.3081 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.5%
Validation Efficiency 99% (97/98)
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
4930562C15Rik T C 16: 4,667,536 (GRCm39) F309S unknown Het
A630001G21Rik C T 1: 85,646,761 (GRCm39) V167M probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Ano4 A G 10: 88,948,697 (GRCm39) F138L probably damaging Het
Aoc1 T C 6: 48,883,681 (GRCm39) V519A possibly damaging Het
Arhgef37 A T 18: 61,631,310 (GRCm39) Y558* probably null Het
Atxn3 T A 12: 101,914,638 (GRCm39) S29C probably damaging Het
Bbs2 T C 8: 94,796,788 (GRCm39) probably benign Het
Bicral A T 17: 47,136,502 (GRCm39) I236N probably damaging Het
Cabcoco1 A G 10: 68,377,599 (GRCm39) V30A probably benign Het
Cap2 A G 13: 46,684,497 (GRCm39) M1V probably null Het
Ccdc153 T C 9: 44,152,305 (GRCm39) M1T probably null Het
Ccnf A T 17: 24,449,311 (GRCm39) V489D probably damaging Het
Cdin1 A C 2: 115,500,539 (GRCm39) H159P probably damaging Het
Cntnap3 T C 13: 64,935,520 (GRCm39) T448A probably benign Het
Cpa4 G A 6: 30,590,814 (GRCm39) D371N probably benign Het
Csl T A 10: 99,594,402 (GRCm39) Y221F possibly damaging Het
Dalrd3 T C 9: 108,448,635 (GRCm39) probably benign Het
Dennd4a T A 9: 64,803,872 (GRCm39) N1070K probably benign Het
Dipk2a C T 9: 94,419,630 (GRCm39) R100H probably damaging Het
Dmwd A T 7: 18,814,472 (GRCm39) D374V probably damaging Het
Eea1 G T 10: 95,831,475 (GRCm39) A189S probably benign Het
Fcgbpl1 A T 7: 27,842,225 (GRCm39) probably benign Het
Fndc1 T C 17: 7,990,471 (GRCm39) D1075G unknown Het
Fsip2 A G 2: 82,805,202 (GRCm39) N507S possibly damaging Het
Gabra5 T G 7: 57,063,413 (GRCm39) E337A probably damaging Het
Gsg1l A G 7: 125,490,841 (GRCm39) Y288H probably benign Het
H2-M11 A T 17: 36,858,401 (GRCm39) D65V probably benign Het
Hmgxb3 A T 18: 61,279,606 (GRCm39) C736S possibly damaging Het
Hsd3b3 A T 3: 98,649,960 (GRCm39) I121N probably damaging Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Il16 A C 7: 83,322,302 (GRCm39) S338A probably benign Het
Itpr1 G A 6: 108,459,867 (GRCm39) A2054T probably damaging Het
Lamp3 T A 16: 19,474,220 (GRCm39) I385F probably damaging Het
Limch1 G A 5: 67,039,270 (GRCm39) V66I possibly damaging Het
Lmod2 A G 6: 24,604,278 (GRCm39) R418G probably benign Het
Ly6g6c A T 17: 35,288,416 (GRCm39) D96V probably damaging Het
Map2k2 G A 10: 80,950,947 (GRCm39) V131M probably damaging Het
Mapk9 T C 11: 49,745,152 (GRCm39) V22A probably damaging Het
Mettl2 T C 11: 105,019,894 (GRCm39) I177T probably damaging Het
Mob4 C T 1: 55,191,995 (GRCm39) probably benign Het
Mybpc1 A T 10: 88,372,286 (GRCm39) N781K probably benign Het
Mybpc1 T C 10: 88,358,853 (GRCm39) I1113V probably benign Het
Myom1 A G 17: 71,384,405 (GRCm39) T707A probably damaging Het
Ncam2 G A 16: 81,287,234 (GRCm39) A383T probably benign Het
Nomo1 T C 7: 45,715,915 (GRCm39) S761P probably damaging Het
Nsd3 T A 8: 26,181,161 (GRCm39) S921T possibly damaging Het
Omp A T 7: 97,794,233 (GRCm39) D131E probably benign Het
Or10d1c A T 9: 38,893,922 (GRCm39) C139* probably null Het
Or4f7d-ps1 C G 2: 111,675,040 (GRCm39) noncoding transcript Het
Or8d4 C T 9: 40,038,514 (GRCm39) V248I probably damaging Het
Pard3 T C 8: 128,287,950 (GRCm39) probably benign Het
Parg A G 14: 31,993,625 (GRCm39) T286A probably damaging Het
Parp1 T A 1: 180,396,600 (GRCm39) M1K probably null Het
Pclo T A 5: 14,861,694 (GRCm39) S4882R unknown Het
Pcnx2 C T 8: 126,498,847 (GRCm39) E1551K probably damaging Het
Pcyox1l A G 18: 61,832,565 (GRCm39) Y161H probably damaging Het
Pdzd8 A T 19: 59,289,236 (GRCm39) C721* probably null Het
Piwil4 T C 9: 14,651,761 (GRCm39) D90G probably benign Het
Plxdc2 T A 2: 16,708,129 (GRCm39) C306S probably damaging Het
Plxna2 T A 1: 194,326,083 (GRCm39) F6I probably benign Het
Prkaa1 T C 15: 5,203,886 (GRCm39) M265T probably benign Het
Prrc2b T C 2: 32,104,212 (GRCm39) V1230A probably benign Het
Rfx2 T C 17: 57,091,706 (GRCm39) E329G probably benign Het
Scg2 T C 1: 79,413,636 (GRCm39) I322M probably damaging Het
Scly T A 1: 91,247,850 (GRCm39) N399K probably damaging Het
Sec23b T A 2: 144,428,281 (GRCm39) probably null Het
Sephs2 A T 7: 126,872,219 (GRCm39) Y291* probably null Het
Slc45a3 T C 1: 131,909,285 (GRCm39) I494T possibly damaging Het
Slc6a21 C A 7: 44,929,535 (GRCm39) Y76* probably null Het
Slfn14 T A 11: 83,167,098 (GRCm39) I806L possibly damaging Het
Slfn4 T A 11: 83,077,844 (GRCm39) S211T probably benign Het
Sptbn4 A G 7: 27,071,577 (GRCm39) V1624A probably damaging Het
Sugp1 T A 8: 70,523,834 (GRCm39) M567K probably damaging Het
Tmem121 A T 12: 113,152,348 (GRCm39) M189L probably benign Het
Tmem201 A G 4: 149,806,727 (GRCm39) S444P probably damaging Het
Tmem63a T C 1: 180,800,751 (GRCm39) V744A probably benign Het
Tnrc18 G A 5: 142,717,380 (GRCm39) S2358F unknown Het
Ubash3b A G 9: 40,929,405 (GRCm39) V404A probably benign Het
Unc13c A T 9: 73,656,821 (GRCm39) C1127S probably damaging Het
Unc5a T C 13: 55,145,042 (GRCm39) V253A probably benign Het
Vmn1r-ps123 C T 13: 23,180,535 (GRCm39) noncoding transcript Het
Wdr74 A G 19: 8,716,849 (GRCm39) E253G possibly damaging Het
Wwox T C 8: 115,174,988 (GRCm39) Y107H probably damaging Het
Zdhhc22 A T 12: 87,035,012 (GRCm39) Y147N probably damaging Het
Zfp131 T C 13: 120,250,491 (GRCm39) H44R possibly damaging Het
Zfp235 A G 7: 23,840,384 (GRCm39) T268A probably benign Het
Zfp280d T C 9: 72,206,140 (GRCm39) probably benign Het
Zfp358 T C 8: 3,546,170 (GRCm39) S251P probably damaging 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
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'- CCTGAACCTGAGTGGATGAG -3'
(R):5'- TGACAACCTGTCCTAGAGTGGG -3'

Sequencing Primer
(F):5'- AGTGGATGAGCACGGTCTC -3'
(R):5'- ACCTGTCCTAGAGTGGGGTCTAAC -3'
Posted On 2016-03-17