Incidental Mutation 'IGL00340:Farsa'
ID 5002
Institutional Source Australian Phenomics Network (link to record)
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 # IGL00340
Quality Score
Status
Chromosome 8
Chromosomal Location 85583618-85595886 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85590886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 208 (K208R)
Ref Sequence ENSEMBL: ENSMUSP00000003906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003906] [ENSMUST00000109754] [ENSMUST00000156970]
AlphaFold Q8C0C7
Predicted Effect probably damaging
Transcript: ENSMUST00000003906
AA Change: K208R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003906
Gene: ENSMUSG00000003808
AA Change: K208R

DomainStartEndE-ValueType
low complexity region 6 16 N/A INTRINSIC
Pfam:tRNA-synt_2d 209 488 5.2e-92 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109754
AA Change: K208R

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105376
Gene: ENSMUSG00000003808
AA Change: K208R

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: ENSMUST00000141480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144404
Predicted Effect probably benign
Transcript: ENSMUST00000156970
SMART Domains Protein: ENSMUSP00000120609
Gene: ENSMUSG00000003808

DomainStartEndE-ValueType
Pfam:HTH_11 6 57 3.1e-7 PFAM
low complexity region 70 82 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184765
Coding Region Coverage
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 G A 5: 89,849,525 (GRCm39) H632Y probably damaging Het
Adgre5 T A 8: 84,455,030 (GRCm39) M221L probably benign Het
Apba2 A T 7: 64,386,689 (GRCm39) I439F possibly damaging Het
Arid1b C A 17: 5,371,559 (GRCm39) N632K probably damaging Het
Bcas3 A T 11: 85,256,417 (GRCm39) I60L probably damaging Het
Brd9 T C 13: 74,086,666 (GRCm39) S56P probably damaging Het
Ccdc57 T A 11: 120,751,295 (GRCm39) D925V possibly damaging Het
Ccna1 A G 3: 54,958,076 (GRCm39) V143A probably damaging Het
Cdhr3 T C 12: 33,102,208 (GRCm39) T410A probably benign Het
Cimap3 A G 3: 105,921,824 (GRCm39) V33A probably benign Het
Ddx60 G T 8: 62,411,680 (GRCm39) D511Y probably damaging Het
Drc7 C A 8: 95,782,629 (GRCm39) probably benign Het
Dysf A G 6: 84,118,933 (GRCm39) E1290G probably benign Het
Fam168b T C 1: 34,875,883 (GRCm39) M1V probably null Het
Fnip2 A G 3: 79,425,368 (GRCm39) probably benign Het
Gm17535 A T 9: 3,035,111 (GRCm39) H170L probably benign Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gm5852 T C 3: 93,634,501 (GRCm39) noncoding transcript Het
Gnb2 T C 5: 137,528,968 (GRCm39) probably benign Het
Gpr158 A G 2: 21,373,494 (GRCm39) N143S probably damaging Het
Hcn1 C A 13: 117,739,513 (GRCm39) Q92K unknown Het
Helb T C 10: 119,934,150 (GRCm39) I678V possibly damaging Het
Hnrnpl C A 7: 28,512,798 (GRCm39) A118D probably damaging Het
Klhl14 G A 18: 21,784,921 (GRCm39) P169S probably benign Het
Kndc1 T C 7: 139,481,904 (GRCm39) probably benign Het
Lmod2 A G 6: 24,598,051 (GRCm39) E57G probably damaging Het
Lrch4 T C 5: 137,636,009 (GRCm39) I300T possibly damaging Het
Lrp6 A G 6: 134,433,053 (GRCm39) V1426A probably benign Het
Lrrc39 A G 3: 116,364,630 (GRCm39) probably benign Het
Mamstr G A 7: 45,293,709 (GRCm39) V262I probably benign Het
Mob1b A T 5: 88,904,014 (GRCm39) T217S probably benign Het
Mocs3 G A 2: 168,073,411 (GRCm39) R286H possibly damaging Het
Mpo A T 11: 87,693,443 (GRCm39) Q27L probably benign Het
Ncdn A T 4: 126,640,981 (GRCm39) D506E probably benign Het
Noxa1 A G 2: 24,984,914 (GRCm39) I8T probably benign Het
Oma1 G T 4: 103,176,565 (GRCm39) A110S probably benign Het
Or10a48 C T 7: 108,424,280 (GRCm39) V309I probably benign Het
Or13a18 T A 7: 140,190,666 (GRCm39) S196T probably damaging Het
Or8b4 A G 9: 37,830,346 (GRCm39) Y131C probably damaging Het
Pde4a A C 9: 21,122,357 (GRCm39) K694T probably benign Het
Phc1 A G 6: 122,299,958 (GRCm39) probably benign Het
Pias1 A G 9: 62,830,578 (GRCm39) V187A probably damaging Het
Pigf C A 17: 87,327,876 (GRCm39) L130F probably null Het
Pkd1 G T 17: 24,799,069 (GRCm39) V2763L probably damaging Het
Potefam1 G T 2: 111,051,107 (GRCm39) L230I probably damaging Het
Ppp1r8 T C 4: 132,561,992 (GRCm39) Y76C probably damaging Het
Ppp6r3 C A 19: 3,568,324 (GRCm39) G158V probably damaging Het
Ptpn13 A G 5: 103,698,924 (GRCm39) I1136V probably damaging Het
Ptprq T C 10: 107,412,790 (GRCm39) I1770V probably damaging Het
Rhpn2 A T 7: 35,070,185 (GRCm39) I148F probably damaging Het
Stard3 T C 11: 98,268,285 (GRCm39) Y239H probably damaging Het
Stau1 T C 2: 166,792,729 (GRCm39) Y412C probably benign Het
Sucnr1 A G 3: 59,994,053 (GRCm39) I194V probably benign Het
Tanc1 A G 2: 59,621,185 (GRCm39) T335A possibly damaging Het
Tmem126a T C 7: 90,101,963 (GRCm39) T79A probably benign Het
Trav9-2 A T 14: 53,828,840 (GRCm39) Y70F probably benign Het
Tspear A G 10: 77,709,070 (GRCm39) E432G probably benign Het
Ube2o T C 11: 116,435,580 (GRCm39) R403G probably benign Het
Unc80 C A 1: 66,645,618 (GRCm39) S1431R possibly damaging Het
Usp24 G A 4: 106,258,336 (GRCm39) C1578Y probably damaging Het
Vsig10 A T 5: 117,489,652 (GRCm39) M473L probably benign Het
Xpot T A 10: 121,441,549 (GRCm39) M559L probably benign Het
Other mutations in Farsa
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6476:Farsa UTSW 8 85,583,809 (GRCm39) missense probably damaging 0.99
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
Posted On 2012-04-20