Incidental Mutation 'IGL03308:Fars2'
ID416459
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fars2
Ensembl Gene ENSMUSG00000021420
Gene Namephenylalanine-tRNA synthetase 2 (mitochondrial)
Synonyms2810431B21Rik, Fars1, 6720478K01Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03308
Quality Score
Status
Chromosome13
Chromosomal Location36117412-36726280 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 36204687 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Arginine at position 53 (I53R)
Ref Sequence ENSEMBL: ENSMUSP00000153019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021857] [ENSMUST00000099582] [ENSMUST00000223796] [ENSMUST00000224241] [ENSMUST00000224611] [ENSMUST00000224916]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021857
AA Change: I53R

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000021857
Gene: ENSMUSG00000021420
AA Change: I53R

DomainStartEndE-ValueType
Pfam:tRNA-synt_2d 69 208 3.3e-18 PFAM
Pfam:tRNA-synt_2d 223 343 9.5e-31 PFAM
FDX-ACB 358 450 1.5e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099582
SMART Domains Protein: ENSMUSP00000097177
Gene: ENSMUSG00000021420

DomainStartEndE-ValueType
Pfam:tRNA-synt_2d 4 111 2.6e-33 PFAM
FDX-ACB 126 218 1.5e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000223796
AA Change: I53R

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224241
AA Change: I53R

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224611
AA Change: I53R

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224916
AA Change: I53R

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225525
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 T C 4: 144,456,251 I216V probably damaging Het
Abcc1 A G 16: 14,470,611 I1367V possibly damaging Het
Ap1g2 T A 14: 55,104,876 I175F probably benign Het
Atad2 A G 15: 58,102,523 V671A probably benign Het
Ccdc134 A G 15: 82,131,520 D67G probably damaging Het
Cdk17 G A 10: 93,221,644 probably null Het
Col3a1 A G 1: 45,330,617 probably benign Het
Col5a3 A G 9: 20,808,379 L228P unknown Het
Eef1a2 A G 2: 181,148,836 probably benign Het
Frmd4a G T 2: 4,498,026 A98S possibly damaging Het
Gprin1 T A 13: 54,740,144 M106L probably benign Het
Hspb8 T C 5: 116,409,342 T194A possibly damaging Het
Ift27 A G 15: 78,166,015 S65P probably damaging Het
Inpp5d A C 1: 87,703,197 Y430S probably damaging Het
Kat6b T C 14: 21,624,834 S356P probably damaging Het
Limch1 C T 5: 67,002,558 T443M possibly damaging Het
Mcf2l C T 8: 13,009,512 R708C probably damaging Het
Mlf1 T C 3: 67,397,807 W214R probably damaging Het
Naga A T 15: 82,335,887 L153Q probably damaging Het
Nbas A G 12: 13,324,348 Q559R possibly damaging Het
Olfr324 T C 11: 58,597,699 F101S probably damaging Het
Olfr720 T A 14: 14,175,161 H307L probably benign Het
Prex2 A G 1: 11,185,175 D1148G possibly damaging Het
Prss23 A C 7: 89,509,730 L377R probably benign Het
Ptprc G T 1: 138,126,320 T27K possibly damaging Het
Rnf213 A G 11: 119,474,172 T4553A probably benign Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Skint3 T C 4: 112,254,067 F130L probably damaging Het
Slc8a1 A G 17: 81,442,195 probably benign Het
Stau1 T C 2: 166,950,320 N433D probably damaging Het
Tapbpl G A 6: 125,228,179 A268V possibly damaging Het
Tmem131l T C 3: 83,940,902 I314V probably benign Het
Tmem44 A G 16: 30,543,748 W151R probably damaging Het
Tnnc1 T C 14: 31,209,841 probably benign Het
Traf5 T G 1: 191,997,500 N530T probably damaging Het
Ttn A G 2: 76,746,563 I24662T probably damaging Het
Vmn1r49 A T 6: 90,072,359 H220Q possibly damaging Het
Vmn2r106 A T 17: 20,278,523 C375* probably null Het
Vps26b T C 9: 27,029,500 Y41C probably damaging Het
Wdr64 T C 1: 175,766,996 probably benign Het
Xylt1 C T 7: 117,637,751 Q576* probably null Het
Zfp106 T C 2: 120,524,024 D1422G probably benign Het
Other mutations in Fars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01876:Fars2 APN 13 36537311 missense probably benign 0.07
IGL02348:Fars2 APN 13 36537380 missense probably benign 0.00
IGL02406:Fars2 APN 13 36410162 missense probably benign 0.39
IGL02523:Fars2 APN 13 36204693 missense probably damaging 1.00
IGL02896:Fars2 APN 13 36204842 missense probably benign 0.02
IGL03299:Fars2 APN 13 36537410 nonsense probably null
R0419:Fars2 UTSW 13 36537311 missense probably benign 0.07
R0546:Fars2 UTSW 13 36204586 missense probably benign 0.01
R1918:Fars2 UTSW 13 36204546 missense probably damaging 1.00
R3120:Fars2 UTSW 13 36246417 missense probably damaging 1.00
R3844:Fars2 UTSW 13 36205101 missense probably damaging 1.00
R4716:Fars2 UTSW 13 36205068 missense probably damaging 1.00
R4795:Fars2 UTSW 13 36537426 missense probably damaging 0.97
R4796:Fars2 UTSW 13 36537426 missense probably damaging 0.97
R4979:Fars2 UTSW 13 36204581 missense possibly damaging 0.54
R5262:Fars2 UTSW 13 36342018 missense probably damaging 1.00
R5413:Fars2 UTSW 13 36204562 nonsense probably null
R5475:Fars2 UTSW 13 36204570 missense probably benign
R5635:Fars2 UTSW 13 36410146 missense probably damaging 0.99
R6437:Fars2 UTSW 13 36204863 missense possibly damaging 0.80
R7637:Fars2 UTSW 13 36204775 missense probably benign 0.40
R7676:Fars2 UTSW 13 36205043 missense probably benign 0.07
R8013:Fars2 UTSW 13 36205085 nonsense probably null
R8014:Fars2 UTSW 13 36205085 nonsense probably null
R8063:Fars2 UTSW 13 36204897 nonsense probably null
R8273:Fars2 UTSW 13 36410110 missense probably damaging 1.00
X0020:Fars2 UTSW 13 36204795 missense probably damaging 1.00
Z1177:Fars2 UTSW 13 36204731 missense probably benign
Posted On2016-08-02