Incidental Mutation 'R5183:Fasn'
ID 397700
Institutional Source Beutler Lab
Gene Symbol Fasn
Ensembl Gene ENSMUSG00000025153
Gene Name fatty acid synthase
Synonyms A630082H08Rik, FAS
MMRRC Submission 042762-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5183 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 120696672-120715373 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120699708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 2288 (Q2288R)
Ref Sequence ENSEMBL: ENSMUSP00000052872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055655] [ENSMUST00000206589]
AlphaFold P19096
Predicted Effect probably benign
Transcript: ENSMUST00000055655
AA Change: Q2288R

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000052872
Gene: ENSMUSG00000025153
AA Change: Q2288R

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 probably benign
Transcript: ENSMUST00000206589
AA Change: Q2286R

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Meta Mutation Damage Score 0.1491 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (73/74)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,887,171 (GRCm39) D8E probably damaging Het
Abca3 T G 17: 24,593,427 (GRCm39) S275A probably benign Het
Adk A G 14: 21,290,599 (GRCm39) N155S probably damaging Het
Aqp11 T C 7: 97,386,963 (GRCm39) T78A probably benign Het
Arhgef40 T C 14: 52,241,556 (GRCm39) V1455A probably damaging Het
Asxl3 C G 18: 22,658,356 (GRCm39) A2122G possibly damaging Het
Cdan1 T A 2: 120,560,061 (GRCm39) I368F probably damaging Het
Cdc42bpg A G 19: 6,371,835 (GRCm39) probably benign Het
Celsr3 A G 9: 108,714,759 (GRCm39) D2013G probably damaging Het
Cep152 A G 2: 125,408,558 (GRCm39) V1332A probably damaging Het
Cftr T C 6: 18,299,832 (GRCm39) S1172P probably damaging Het
Commd2 A T 3: 57,554,235 (GRCm39) D155E probably benign Het
Coq7 T A 7: 118,127,490 (GRCm39) probably benign Het
Dnase2a T C 8: 85,636,207 (GRCm39) probably benign Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Dock6 C T 9: 21,752,899 (GRCm39) V305I probably benign Het
Ehmt1 G T 2: 24,767,509 (GRCm39) P135T probably damaging Het
Fat3 T A 9: 15,871,609 (GRCm39) N3594I probably damaging Het
Galnt10 T C 11: 57,660,414 (GRCm39) M284T probably damaging Het
Gatm A T 2: 122,425,984 (GRCm39) F422L probably benign Het
Glrp1 A T 1: 88,437,574 (GRCm39) I12N unknown Het
Gm5455 T A 13: 110,441,962 (GRCm39) noncoding transcript Het
Gpam C T 19: 55,071,659 (GRCm39) E361K probably damaging Het
Gps2 A G 11: 69,806,023 (GRCm39) T126A probably benign Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
Gsg1 T A 6: 135,218,368 (GRCm39) Q176L probably damaging Het
Htra1 C T 7: 130,585,446 (GRCm39) A412V possibly damaging Het
Icosl C T 10: 77,905,319 (GRCm39) probably benign Het
Iqgap1 T C 7: 80,372,813 (GRCm39) T1509A probably damaging Het
Irag2 A G 6: 145,083,946 (GRCm39) E37G probably benign Het
Itgad T C 7: 127,797,395 (GRCm39) probably null Het
Kdm5a C A 6: 120,406,977 (GRCm39) probably benign Het
Kidins220 T C 12: 25,101,125 (GRCm39) L1017S probably benign Het
Lrrc37 T C 11: 103,433,947 (GRCm39) Y898C probably damaging Het
Man2b1 T A 8: 85,822,413 (GRCm39) S804R probably damaging Het
Miip A T 4: 147,947,526 (GRCm39) F211L probably damaging Het
Moxd1 T G 10: 24,155,445 (GRCm39) probably null Het
Moxd1 T G 10: 24,163,034 (GRCm39) Y499D probably damaging Het
Mrpl45 T C 11: 97,207,577 (GRCm39) I24T probably benign Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Mthfr T A 4: 148,135,817 (GRCm39) probably null Het
Muc5b T A 7: 141,404,547 (GRCm39) D827E unknown Het
Myo1g G C 11: 6,458,243 (GRCm39) L866V probably damaging Het
Myo3a A T 2: 22,468,170 (GRCm39) M475L probably benign Het
Ncoa2 A C 1: 13,244,590 (GRCm39) L703V probably damaging Het
Ncoa4-ps A C 12: 119,225,023 (GRCm39) noncoding transcript Het
Nme6 T A 9: 109,670,557 (GRCm39) Y69* probably null Het
Nwd1 T A 8: 73,397,714 (GRCm39) M651K probably benign Het
Or4k15c A C 14: 50,322,003 (GRCm39) I45S probably damaging Het
Orc2 A T 1: 58,513,977 (GRCm39) S298R possibly damaging Het
Oscp1 A T 4: 125,981,522 (GRCm39) E328V probably damaging Het
Pan2 T C 10: 128,153,838 (GRCm39) V1003A probably damaging Het
Pik3r4 T C 9: 105,559,507 (GRCm39) V1200A possibly damaging Het
Prl T C 13: 27,241,579 (GRCm39) probably benign Het
Ptprk T C 10: 28,351,232 (GRCm39) V575A probably benign Het
Rflna A T 5: 125,088,469 (GRCm39) S139C probably damaging Het
Robo1 T C 16: 72,539,038 (GRCm39) F27S probably benign Het
Secisbp2 T C 13: 51,819,460 (GRCm39) S347P probably benign Het
Shmt1 A G 11: 60,688,308 (GRCm39) probably benign Het
Slc27a3 A G 3: 90,296,477 (GRCm39) probably null Het
Slc6a5 T C 7: 49,585,957 (GRCm39) V425A probably damaging Het
Slc8a3 A G 12: 81,361,265 (GRCm39) V518A possibly damaging Het
Slco1a4 A T 6: 141,785,357 (GRCm39) Y78N probably damaging Het
Stt3b A T 9: 115,095,211 (GRCm39) H273Q probably damaging Het
Tle6 T A 10: 81,428,635 (GRCm39) N431I probably damaging Het
Trim34b C A 7: 103,979,118 (GRCm39) Q122K possibly damaging Het
Trio C A 15: 27,902,686 (GRCm39) R258S probably benign Het
Ttc7 A T 17: 87,600,306 (GRCm39) D23V probably damaging Het
Ttn A T 2: 76,810,525 (GRCm39) M1K probably null Het
Ufsp2 T C 8: 46,447,126 (GRCm39) V391A probably benign Het
Vps13c T C 9: 67,815,334 (GRCm39) L990S probably damaging Het
Zfp108 G T 7: 23,960,163 (GRCm39) K251N probably benign Het
Zfp618 G A 4: 63,017,519 (GRCm39) M234I 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
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'- AGCAACACTTAGGACCAGTTGG -3'
(R):5'- TCCTTGTGCACCCCATTGAG -3'

Sequencing Primer
(F):5'- ACTTAGGACCAGTTGGCCCAG -3'
(R):5'- ATTGAGGGTTCCACCACCGTG -3'
Posted On 2016-07-06