Incidental Mutation 'IGL00907:Sars2'
ID27783
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sars2
Ensembl Gene ENSMUSG00000070699
Gene Nameseryl-aminoacyl-tRNA synthetase 2
Synonyms2410015F05Rik, D7Ertd353e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.908) question?
Stock #IGL00907
Quality Score
Status
Chromosome7
Chromosomal Location28741992-28753871 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to T at 28753423 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032815] [ENSMUST00000094632] [ENSMUST00000178767]
Predicted Effect probably benign
Transcript: ENSMUST00000032815
SMART Domains Protein: ENSMUSP00000032815
Gene: ENSMUSG00000030595

DomainStartEndE-ValueType
low complexity region 19 45 N/A INTRINSIC
ANK 57 86 4.13e-2 SMART
ANK 93 122 1.6e1 SMART
ANK 126 155 5.98e1 SMART
low complexity region 183 191 N/A INTRINSIC
ANK 206 235 5.12e-7 SMART
ANK 240 269 1.76e-5 SMART
ANK 273 303 1.37e2 SMART
low complexity region 305 327 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094632
SMART Domains Protein: ENSMUSP00000092216
Gene: ENSMUSG00000070699

DomainStartEndE-ValueType
Pfam:Seryl_tRNA_N 58 174 3.8e-8 PFAM
Pfam:tRNA-synt_2b 284 468 5.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178767
SMART Domains Protein: ENSMUSP00000137487
Gene: ENSMUSG00000096257

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 105 117 N/A INTRINSIC
coiled coil region 129 151 N/A INTRINSIC
low complexity region 206 215 N/A INTRINSIC
coiled coil region 228 270 N/A INTRINSIC
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 the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armt1 A G 10: 4,454,051 F379V possibly damaging Het
Atp8b1 T C 18: 64,561,705 D502G possibly damaging Het
Brwd3 A G X: 108,784,246 probably benign Het
Ccdc171 T A 4: 83,864,249 H1259Q probably damaging Het
Chd7 T C 4: 8,840,435 I1401T probably damaging Het
Csf1 T C 3: 107,750,346 N76S probably damaging Het
Dld A G 12: 31,332,330 probably benign Het
Eif5 T A 12: 111,540,555 I141N probably damaging Het
Etl4 G A 2: 20,766,478 G674D possibly damaging Het
Fam234a G A 17: 26,213,526 R550W probably damaging Het
Hipk2 A G 6: 38,818,273 S347P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hsd17b2 A T 8: 117,734,694 I157L probably benign Het
Ibtk A G 9: 85,690,331 S1269P possibly damaging Het
Igsf3 T C 3: 101,427,448 probably benign Het
Kin G A 2: 10,080,704 R25H probably damaging Het
Kin T C 2: 10,080,706 W26R probably damaging Het
Kir3dl1 G A X: 136,525,162 C95Y probably damaging Het
Lamc2 A G 1: 153,144,651 V383A probably benign Het
Mael A G 1: 166,204,849 Y314H probably damaging Het
Npat T C 9: 53,563,290 V794A possibly damaging Het
Nr4a2 T A 2: 57,109,217 I340F probably damaging Het
Olfr1195 A G 2: 88,683,294 V146A probably benign Het
Olfr477 A T 7: 107,990,890 D175V probably damaging Het
Olfr836 T A 9: 19,121,232 D89E possibly damaging Het
Pdcd11 T C 19: 47,107,564 V641A probably benign Het
Phf24 C T 4: 42,938,667 T264I probably benign Het
Scn1a A C 2: 66,327,797 S411A probably damaging Het
Srsf5 T C 12: 80,947,834 V112A probably damaging Het
Susd2 T C 10: 75,640,931 N206S probably benign Het
Thrap3 C T 4: 126,165,578 G892S probably benign Het
Ttc32 T A 12: 9,034,953 Y58N probably damaging Het
Other mutations in Sars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01376:Sars2 APN 7 28749883 missense probably damaging 1.00
IGL01633:Sars2 APN 7 28747549 missense probably benign 0.02
IGL02121:Sars2 APN 7 28752525 unclassified probably benign
IGL02488:Sars2 APN 7 28742160 nonsense probably null
IGL03062:Sars2 APN 7 28746781 missense possibly damaging 0.89
R1601:Sars2 UTSW 7 28748971 missense probably benign 0.26
R1857:Sars2 UTSW 7 28750012 missense probably benign 0.00
R1859:Sars2 UTSW 7 28744312 missense probably damaging 0.99
R2193:Sars2 UTSW 7 28748997 missense probably damaging 0.96
R2204:Sars2 UTSW 7 28749674 missense possibly damaging 0.95
R4452:Sars2 UTSW 7 28750093 missense probably benign 0.08
R4514:Sars2 UTSW 7 28742284 critical splice donor site probably null
R4921:Sars2 UTSW 7 28752438 missense possibly damaging 0.81
R5121:Sars2 UTSW 7 28747908 missense probably damaging 0.99
R5434:Sars2 UTSW 7 28750291 missense probably null 1.00
R5849:Sars2 UTSW 7 28744258 missense possibly damaging 0.92
R6668:Sars2 UTSW 7 28747004 missense probably benign 0.01
R7123:Sars2 UTSW 7 28753441 missense probably benign 0.40
R7205:Sars2 UTSW 7 28744308 missense probably benign
R7677:Sars2 UTSW 7 28746751 missense probably benign 0.07
R7902:Sars2 UTSW 7 28742203 missense probably benign 0.29
R8084:Sars2 UTSW 7 28750285 missense probably damaging 1.00
R8320:Sars2 UTSW 7 28746868 missense probably damaging 1.00
Posted On2013-04-17