Incidental Mutation 'IGL00907:Sars2'
ID 27783
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sars2
Ensembl Gene ENSMUSG00000070699
Gene Name seryl-aminoacyl-tRNA synthetase 2
Synonyms D7Ertd353e, 2410015F05Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.868) question?
Stock # IGL00907
Quality Score
Status
Chromosome 7
Chromosomal Location 28441417-28453296 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 28452848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032815] [ENSMUST00000094632] [ENSMUST00000178767]
AlphaFold Q9JJL8
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 (GRCm38) F379V possibly damaging Het
Atp8b1 T C 18: 64,694,776 (GRCm39) D502G possibly damaging Het
Brwd3 A G X: 107,827,852 (GRCm39) probably benign Het
Ccdc171 T A 4: 83,782,486 (GRCm39) H1259Q probably damaging Het
Chd7 T C 4: 8,840,435 (GRCm39) I1401T probably damaging Het
Csf1 T C 3: 107,657,662 (GRCm39) N76S probably damaging Het
Dld A G 12: 31,382,329 (GRCm39) probably benign Het
Eif5 T A 12: 111,506,989 (GRCm39) I141N probably damaging Het
Etl4 G A 2: 20,771,289 (GRCm39) G674D possibly damaging Het
Fam234a G A 17: 26,432,500 (GRCm39) R550W probably damaging Het
Hipk2 A G 6: 38,795,208 (GRCm39) S347P probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Hsd17b2 A T 8: 118,461,433 (GRCm39) I157L probably benign Het
Ibtk A G 9: 85,572,384 (GRCm39) S1269P possibly damaging Het
Igsf3 T C 3: 101,334,764 (GRCm39) probably benign Het
Kin G A 2: 10,085,515 (GRCm39) R25H probably damaging Het
Kin T C 2: 10,085,517 (GRCm39) W26R probably damaging Het
Kir3dl1 G A X: 135,425,911 (GRCm39) C95Y probably damaging Het
Lamc2 A G 1: 153,020,397 (GRCm39) V383A probably benign Het
Mael A G 1: 166,032,418 (GRCm39) Y314H probably damaging Het
Npat T C 9: 53,474,590 (GRCm39) V794A possibly damaging Het
Nr4a2 T A 2: 56,999,229 (GRCm39) I340F probably damaging Het
Or4c103 A G 2: 88,513,638 (GRCm39) V146A probably benign Het
Or5p56 A T 7: 107,590,097 (GRCm39) D175V probably damaging Het
Or7g21 T A 9: 19,032,528 (GRCm39) D89E possibly damaging Het
Pdcd11 T C 19: 47,096,003 (GRCm39) V641A probably benign Het
Phf24 C T 4: 42,938,667 (GRCm39) T264I probably benign Het
Scn1a A C 2: 66,158,141 (GRCm39) S411A probably damaging Het
Srsf5 T C 12: 80,994,608 (GRCm39) V112A probably damaging Het
Susd2 T C 10: 75,476,765 (GRCm39) N206S probably benign Het
Thrap3 C T 4: 126,059,371 (GRCm39) G892S probably benign Het
Ttc32 T A 12: 9,084,953 (GRCm39) Y58N probably damaging Het
Other mutations in Sars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01376:Sars2 APN 7 28,449,308 (GRCm39) missense probably damaging 1.00
IGL01633:Sars2 APN 7 28,446,974 (GRCm39) missense probably benign 0.02
IGL02121:Sars2 APN 7 28,451,950 (GRCm39) unclassified probably benign
IGL02488:Sars2 APN 7 28,441,585 (GRCm39) nonsense probably null
IGL03062:Sars2 APN 7 28,446,206 (GRCm39) missense possibly damaging 0.89
R1601:Sars2 UTSW 7 28,448,396 (GRCm39) missense probably benign 0.26
R1857:Sars2 UTSW 7 28,449,437 (GRCm39) missense probably benign 0.00
R1859:Sars2 UTSW 7 28,443,737 (GRCm39) missense probably damaging 0.99
R2193:Sars2 UTSW 7 28,448,422 (GRCm39) missense probably damaging 0.96
R2204:Sars2 UTSW 7 28,449,099 (GRCm39) missense possibly damaging 0.95
R4452:Sars2 UTSW 7 28,449,518 (GRCm39) missense probably benign 0.08
R4514:Sars2 UTSW 7 28,441,709 (GRCm39) critical splice donor site probably null
R4921:Sars2 UTSW 7 28,451,863 (GRCm39) missense possibly damaging 0.81
R5121:Sars2 UTSW 7 28,447,333 (GRCm39) missense probably damaging 0.99
R5434:Sars2 UTSW 7 28,449,716 (GRCm39) missense probably null 1.00
R5849:Sars2 UTSW 7 28,443,683 (GRCm39) missense possibly damaging 0.92
R6668:Sars2 UTSW 7 28,446,429 (GRCm39) missense probably benign 0.01
R7123:Sars2 UTSW 7 28,452,866 (GRCm39) missense probably benign 0.40
R7205:Sars2 UTSW 7 28,443,733 (GRCm39) missense probably benign
R7677:Sars2 UTSW 7 28,446,176 (GRCm39) missense probably benign 0.07
R7902:Sars2 UTSW 7 28,441,628 (GRCm39) missense probably benign 0.29
R8084:Sars2 UTSW 7 28,449,710 (GRCm39) missense probably damaging 1.00
R8320:Sars2 UTSW 7 28,446,293 (GRCm39) missense probably damaging 1.00
R9057:Sars2 UTSW 7 28,446,246 (GRCm39) missense
R9350:Sars2 UTSW 7 28,447,273 (GRCm39) missense probably damaging 1.00
R9461:Sars2 UTSW 7 28,449,438 (GRCm39) missense probably benign 0.00
Posted On 2013-04-17