Incidental Mutation 'R6476:Farsa'
ID 516790
Institutional Source Beutler Lab
Gene Symbol Farsa
Ensembl Gene ENSMUSG00000003808
Gene Name phenylalanyl-tRNA synthetase, alpha subunit
Synonyms 0610012A19Rik, Farsla
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6476 (G1)
Quality Score 181.009
Status Not validated
Chromosome 8
Chromosomal Location 85583618-85595886 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85583809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 49 (E49G)
Ref Sequence ENSEMBL: ENSMUSP00000120609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003906] [ENSMUST00000109754] [ENSMUST00000156970]
AlphaFold Q8C0C7
Predicted Effect probably benign
Transcript: ENSMUST00000003906
AA Change: E49G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000003906
Gene: ENSMUSG00000003808
AA Change: E49G

DomainStartEndE-ValueType
low complexity region 6 16 N/A INTRINSIC
Pfam:tRNA-synt_2d 209 488 5.2e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109754
AA Change: E49G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105376
Gene: ENSMUSG00000003808
AA Change: E49G

DomainStartEndE-ValueType
low complexity region 6 16 N/A INTRINSIC
Pfam:tRNA-synt_2b 126 413 2.1e-8 PFAM
Pfam:tRNA-synt_2d 209 487 8.5e-95 PFAM
Pfam:tRNA-synt_2 336 437 1e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144404
Predicted Effect probably damaging
Transcript: ENSMUST00000156970
AA Change: E49G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120609
Gene: ENSMUSG00000003808
AA Change: E49G

DomainStartEndE-ValueType
Pfam:HTH_11 6 57 3.1e-7 PFAM
low complexity region 70 82 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). This gene product has been shown to be expressed in a tumor-selective and cell cycle stage- and differentiation-dependent manner, the first member of the tRNA synthetase gene family shown to exhibit this type of regulated expression [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a T C 2: 154,892,699 (GRCm39) V126A probably benign Het
Adamts20 T C 15: 94,259,691 (GRCm39) Q336R probably benign Het
Ankrd36 A G 11: 5,578,753 (GRCm39) T6A probably benign Het
Arhgap33 A G 7: 30,223,837 (GRCm39) S731P probably damaging Het
Arhgef10l G C 4: 140,338,693 (GRCm39) P23R probably damaging Het
Atf7 T C 15: 102,502,147 (GRCm39) D3G probably benign Het
Caps2 A G 10: 112,011,465 (GRCm39) T30A possibly damaging Het
Ccdc15 A T 9: 37,253,715 (GRCm39) I191N probably benign Het
Cep170 A T 1: 176,607,917 (GRCm39) S180T possibly damaging Het
Chd1 G A 17: 17,601,250 (GRCm39) probably null Het
Col6a3 A T 1: 90,709,534 (GRCm39) N1887K unknown Het
Csgalnact1 C T 8: 68,913,761 (GRCm39) S148N probably damaging Het
Csgalnact1 T A 8: 68,913,762 (GRCm39) S148C probably damaging Het
Dnah14 A G 1: 181,572,333 (GRCm39) E2888G probably benign Het
Dnah7b T A 1: 46,281,364 (GRCm39) Y2808* probably null Het
Dock10 A C 1: 80,518,959 (GRCm39) L1254* probably null Het
Eml2 T C 7: 18,930,236 (GRCm39) V511A probably benign Het
Eml6 A G 11: 29,741,971 (GRCm39) probably null Het
Erbin C A 13: 103,977,755 (GRCm39) D601Y probably damaging Het
Fzd7 A G 1: 59,523,154 (GRCm39) M346V probably damaging Het
Gatd3a T C 10: 78,003,347 (GRCm39) N102D probably damaging Het
Glg1 A C 8: 111,926,806 (GRCm39) S170A possibly damaging Het
Gpx3 A T 11: 54,798,025 (GRCm39) I54F probably damaging Het
H6pd G A 4: 150,067,184 (GRCm39) H401Y probably damaging Het
Hspb8 A G 5: 116,560,457 (GRCm39) S28P probably damaging Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Krt9 A T 11: 100,081,640 (GRCm39) D296E probably damaging Het
Lcor C T 19: 41,571,518 (GRCm39) T237I probably benign Het
Lnx1 A G 5: 74,768,541 (GRCm39) V349A possibly damaging Het
Map3k6 A T 4: 132,977,397 (GRCm39) S915C probably damaging Het
Mecom C A 3: 30,034,717 (GRCm39) A510S possibly damaging Het
Mettl14 A G 3: 123,167,686 (GRCm39) I224T probably damaging Het
Mme T C 3: 63,251,056 (GRCm39) probably null Het
Nbea T A 3: 55,912,227 (GRCm39) T1187S probably benign Het
Ndor1 T C 2: 25,138,154 (GRCm39) T444A possibly damaging Het
Nhlrc1 A G 13: 47,167,657 (GRCm39) L200P possibly damaging Het
Npc1 G T 18: 12,334,751 (GRCm39) S667* probably null Het
Nscme3l A C 19: 5,553,253 (GRCm39) I176S probably damaging Het
Or14a256 C T 7: 86,265,218 (GRCm39) V212I probably benign Het
Or1l8 T A 2: 36,817,595 (GRCm39) H177L possibly damaging Het
Or4c109 T A 2: 88,817,721 (GRCm39) D275V probably benign Het
Or51d1 T A 7: 102,348,310 (GRCm39) N288K possibly damaging Het
Or5g9 T A 2: 85,551,928 (GRCm39) Y60N probably damaging Het
Pds5a A C 5: 65,791,630 (GRCm39) I773R possibly damaging Het
Pgr T A 9: 8,964,839 (GRCm39) probably null Het
Plscr4 A T 9: 92,372,819 (GRCm39) M314L probably benign Het
Polr2m A G 9: 71,390,752 (GRCm39) V46A probably benign Het
Ptk2b T A 14: 66,424,923 (GRCm39) M174L possibly damaging Het
Sec31a A T 5: 100,534,008 (GRCm39) F521I probably benign Het
Serpinb3d T C 1: 107,011,071 (GRCm39) N47S probably benign Het
Shld2 T C 14: 33,989,971 (GRCm39) S312G probably benign Het
Slc24a3 T A 2: 145,448,750 (GRCm39) D431E probably benign Het
Slc34a1 C A 13: 23,996,569 (GRCm39) H25N probably damaging Het
Slc9a9 T C 9: 94,567,191 (GRCm39) F87L probably benign Het
Spata31 T A 13: 65,065,456 (GRCm39) S54T possibly damaging Het
Spata6 T C 4: 111,632,020 (GRCm39) S144P probably damaging Het
Sppl2c A G 11: 104,077,595 (GRCm39) N132D probably benign Het
Ssu2 C T 6: 112,351,793 (GRCm39) G311S probably damaging Het
Syne1 T A 10: 5,104,531 (GRCm39) Q6328L possibly damaging Het
Tie1 T C 4: 118,330,062 (GRCm39) T1054A possibly damaging Het
Tnfaip6 T G 2: 51,942,328 (GRCm39) D212E probably benign Het
Tnxb A G 17: 34,909,166 (GRCm39) T1442A probably damaging Het
Trim35 C T 14: 66,546,244 (GRCm39) T337M probably damaging Het
Vipr1 T C 9: 121,498,489 (GRCm39) V413A probably benign Het
Vmn1r19 C G 6: 57,381,578 (GRCm39) Q44E probably damaging Het
Zfp1002 T C 2: 150,097,246 (GRCm39) D61G probably benign Het
Zfp266 G T 9: 20,410,577 (GRCm39) H533Q probably damaging Het
Zfp689 T C 7: 127,043,896 (GRCm39) S245G probably damaging Het
Other mutations in Farsa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Farsa APN 8 85,590,886 (GRCm39) missense probably damaging 1.00
IGL02273:Farsa APN 8 85,594,455 (GRCm39) missense probably damaging 1.00
R0006:Farsa UTSW 8 85,587,934 (GRCm39) splice site probably benign
R0599:Farsa UTSW 8 85,594,212 (GRCm39) missense probably damaging 1.00
R0727:Farsa UTSW 8 85,587,933 (GRCm39) splice site probably null
R1933:Farsa UTSW 8 85,587,780 (GRCm39) missense probably benign 0.11
R4021:Farsa UTSW 8 85,595,499 (GRCm39) missense probably damaging 1.00
R5127:Farsa UTSW 8 85,595,593 (GRCm39) missense probably benign 0.00
R5975:Farsa UTSW 8 85,591,061 (GRCm39) splice site probably null
R6307:Farsa UTSW 8 85,587,674 (GRCm39) critical splice donor site probably null
R7226:Farsa UTSW 8 85,590,689 (GRCm39) missense probably benign
R7252:Farsa UTSW 8 85,587,957 (GRCm39) missense probably damaging 1.00
R7593:Farsa UTSW 8 85,594,278 (GRCm39) critical splice donor site probably null
R7773:Farsa UTSW 8 85,590,781 (GRCm39) critical splice donor site probably null
R8033:Farsa UTSW 8 85,594,198 (GRCm39) missense probably benign 0.40
R8235:Farsa UTSW 8 85,595,545 (GRCm39) missense probably damaging 1.00
R8280:Farsa UTSW 8 85,587,808 (GRCm39) missense probably damaging 1.00
R8984:Farsa UTSW 8 85,594,228 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTAAGATGGCGACGACCAGC -3'
(R):5'- ACACCCCTACATGTGCCATG -3'

Sequencing Primer
(F):5'- TTTGCGCCACACTAAAAATGG -3'
(R):5'- GTTTTCGCCTTAACAGACATTAGTC -3'
Posted On 2018-05-21