Incidental Mutation 'IGL02273:Farsa'
ID287242
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Farsa
Ensembl Gene ENSMUSG00000003808
Gene Namephenylalanyl-tRNA synthetase, alpha subunit
SynonymsFarsla, 0610012A19Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02273
Quality Score
Status
Chromosome8
Chromosomal Location84856989-84869257 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 84867826 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 368 (A368V)
Ref Sequence ENSEMBL: ENSMUSP00000003906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003906] [ENSMUST00000003922] [ENSMUST00000109754] [ENSMUST00000136026] [ENSMUST00000156970] [ENSMUST00000170296]
Predicted Effect probably damaging
Transcript: ENSMUST00000003906
AA Change: A368V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003906
Gene: ENSMUSG00000003808
AA Change: A368V

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: ENSMUST00000003922
Predicted Effect probably damaging
Transcript: ENSMUST00000109754
AA Change: A367V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105376
Gene: ENSMUSG00000003808
AA Change: A367V

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 probably benign
Transcript: ENSMUST00000136026
SMART Domains Protein: ENSMUSP00000122159
Gene: ENSMUSG00000003824

DomainStartEndE-ValueType
coiled coil region 52 83 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144404
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144466
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 probably benign
Transcript: ENSMUST00000170296
SMART Domains Protein: ENSMUSP00000131438
Gene: ENSMUSG00000003824

DomainStartEndE-ValueType
coiled coil region 58 89 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik T C 7: 126,830,759 T89A probably benign Het
4932438A13Rik T A 3: 36,921,437 probably benign Het
Amhr2 T C 15: 102,452,489 V353A probably benign Het
Bbox1 A T 2: 110,275,616 Y194* probably null Het
Bnipl C A 3: 95,245,775 R131L possibly damaging Het
Casp8ap2 T C 4: 32,643,974 S1016P probably damaging Het
Cblb A G 16: 52,047,294 I88M possibly damaging Het
Cyp24a1 A T 2: 170,496,358 Y89N probably damaging Het
Ddx25 G T 9: 35,546,826 N332K possibly damaging Het
Dnaaf5 C T 5: 139,177,916 Q348* probably null Het
Dnah3 A T 7: 119,951,271 I3264N probably damaging Het
Eml4 T A 17: 83,456,379 probably null Het
Fat1 T C 8: 44,950,331 Y40H probably damaging Het
Glt1d1 T A 5: 127,657,144 probably benign Het
Gm5422 A G 10: 31,250,007 noncoding transcript Het
Gpr135 A G 12: 72,069,958 I345T probably damaging Het
Hmcn2 G A 2: 31,424,377 V3616I probably benign Het
Kif9 A T 9: 110,510,470 K460M probably damaging Het
Ldhd T C 8: 111,627,290 E426G probably benign Het
Mdh1 A T 11: 21,559,786 N196K probably benign Het
Nfkb1 A T 3: 135,605,207 C444S probably benign Het
Pfkfb2 G A 1: 130,707,582 R81C probably damaging Het
Pfpl T C 19: 12,429,963 V526A possibly damaging Het
Phf20l1 T A 15: 66,640,025 V951E probably damaging Het
Pik3cg A T 12: 32,176,810 L1026Q probably damaging Het
Pms1 T C 1: 53,207,997 N263S probably damaging Het
Prkcb T A 7: 122,627,767 F659I probably damaging Het
Prr14 A G 7: 127,475,936 I69M probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Senp5 T C 16: 31,989,872 H161R probably benign Het
Spc25 A G 2: 69,204,929 probably benign Het
Spty2d1 A G 7: 46,997,573 V536A probably damaging Het
Susd2 A G 10: 75,640,938 S84P possibly damaging Het
Tacc1 A C 8: 25,159,781 L768V probably damaging Het
Tbpl2 A T 2: 24,096,519 I5N probably benign Het
Tmc2 A G 2: 130,229,206 D285G probably damaging Het
Tns3 A T 11: 8,434,531 V1429E probably damaging Het
Trmt44 T C 5: 35,574,113 Y190C probably damaging Het
Ubr4 G A 4: 139,472,578 R4591H possibly damaging Het
Zfc3h1 T A 10: 115,427,099 D1739E probably benign Het
Zfp26 A G 9: 20,441,448 V107A probably damaging Het
Other mutations in Farsa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Farsa APN 8 84864257 missense probably damaging 1.00
R0006:Farsa UTSW 8 84861305 splice site probably benign
R0599:Farsa UTSW 8 84867583 missense probably damaging 1.00
R0727:Farsa UTSW 8 84861304 splice site probably null
R1933:Farsa UTSW 8 84861151 missense probably benign 0.11
R4021:Farsa UTSW 8 84868870 missense probably damaging 1.00
R5127:Farsa UTSW 8 84868964 missense probably benign 0.00
R5975:Farsa UTSW 8 84864432 splice site probably null
R6307:Farsa UTSW 8 84861045 critical splice donor site probably null
R6476:Farsa UTSW 8 84857180 missense probably damaging 0.99
R7226:Farsa UTSW 8 84864060 missense probably benign
R7252:Farsa UTSW 8 84861328 missense probably damaging 1.00
R7593:Farsa UTSW 8 84867649 critical splice donor site probably null
R7773:Farsa UTSW 8 84864152 critical splice donor site probably null
R8033:Farsa UTSW 8 84867569 missense probably benign 0.40
Posted On2015-04-16