Incidental Mutation 'IGL03062:Sars2'
ID 409494
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 # IGL03062
Quality Score
Status
Chromosome 7
Chromosomal Location 28441417-28453296 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28446206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 145 (I145N)
Ref Sequence ENSEMBL: ENSMUSP00000092216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056078] [ENSMUST00000094632] [ENSMUST00000207877]
AlphaFold Q9JJL8
Predicted Effect probably benign
Transcript: ENSMUST00000056078
SMART Domains Protein: ENSMUSP00000062066
Gene: ENSMUSG00000045948

DomainStartEndE-ValueType
Pfam:Ribosom_S12_S23 31 139 2.4e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000094632
AA Change: I145N

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092216
Gene: ENSMUSG00000070699
AA Change: I145N

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: ENSMUST00000207877
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207897
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,681,054 (GRCm39) R714Q possibly damaging Het
Abcb5 T A 12: 118,899,822 (GRCm39) I282L probably benign Het
Aox1 A T 1: 58,117,624 (GRCm39) E835D probably benign Het
Arhgap17 C T 7: 122,921,097 (GRCm39) probably null Het
Bltp1 T C 3: 37,092,666 (GRCm39) probably benign Het
Calcr C T 6: 3,693,718 (GRCm39) V359I probably benign Het
Chd9 T A 8: 91,741,895 (GRCm39) probably benign Het
Col28a1 T C 6: 8,017,029 (GRCm39) probably benign Het
Dnajc11 A G 4: 152,055,318 (GRCm39) E171G possibly damaging Het
Efhd1 T C 1: 87,192,406 (GRCm39) F79L possibly damaging Het
Fam83a A T 15: 57,856,473 (GRCm39) probably null Het
Fam98a A G 17: 75,847,100 (GRCm39) probably benign Het
Ficd A G 5: 113,876,314 (GRCm39) Y163C probably damaging Het
Filip1l T C 16: 57,327,167 (GRCm39) S66P probably damaging Het
Fmo5 A G 3: 97,542,909 (GRCm39) Y73C probably damaging Het
Galnt12 C A 4: 47,122,566 (GRCm39) R574S possibly damaging Het
Klc3 C A 7: 19,128,987 (GRCm39) G461W probably damaging Het
Lmo7 A T 14: 102,149,515 (GRCm39) T973S possibly damaging Het
Loxl1 C A 9: 58,219,193 (GRCm39) G326V possibly damaging Het
Lrrc24 A G 15: 76,602,504 (GRCm39) V127A probably benign Het
Lyrm1 T C 7: 119,515,354 (GRCm39) probably benign Het
Med28 G A 5: 45,679,811 (GRCm39) V65I probably damaging Het
Mgat4c T C 10: 102,224,322 (GRCm39) Y179H probably damaging Het
Micall1 A C 15: 78,998,881 (GRCm39) N58T probably damaging Het
Mtcl3 T A 10: 29,074,945 (GRCm39) F911Y probably damaging Het
Ncoa4 T A 14: 31,895,377 (GRCm39) M72K possibly damaging Het
Nutm1 T C 2: 112,079,278 (GRCm39) Q879R probably benign Het
Or4d6 C T 19: 12,086,512 (GRCm39) V133I probably benign Het
Or8b12i T A 9: 20,082,463 (GRCm39) I135F probably damaging Het
Or8g52 T A 9: 39,631,331 (GRCm39) D269E probably benign Het
Phf11b T C 14: 59,562,373 (GRCm39) I177M probably damaging Het
Pin1rt1 T G 2: 104,545,052 (GRCm39) I27L probably benign Het
Plxna2 T C 1: 194,444,858 (GRCm39) V750A possibly damaging Het
Pou5f1 A T 17: 35,820,936 (GRCm39) N126I possibly damaging Het
Ptprn A T 1: 75,224,517 (GRCm39) H946Q possibly damaging Het
Rnf43 G T 11: 87,623,130 (GRCm39) G744* probably null Het
Rsbn1 C A 3: 103,860,945 (GRCm39) probably benign Het
Sh3tc2 A T 18: 62,144,951 (GRCm39) E1135V probably damaging Het
Shroom1 A G 11: 53,354,206 (GRCm39) D42G probably benign Het
Sidt2 A G 9: 45,853,981 (GRCm39) probably null Het
Slc39a8 T C 3: 135,592,558 (GRCm39) probably benign Het
Slc9c1 T C 16: 45,420,121 (GRCm39) S1059P probably benign Het
Socs6 A T 18: 88,887,970 (GRCm39) M315K probably benign Het
Speer2 T C 16: 69,654,865 (GRCm39) E200G probably damaging Het
Sult2a5 T A 7: 13,358,107 (GRCm39) probably null Het
Tmbim1 A T 1: 74,330,858 (GRCm39) I168N possibly damaging Het
Trim38 T C 13: 23,966,946 (GRCm39) V131A probably damaging Het
Ube2o A G 11: 116,432,468 (GRCm39) S833P probably damaging Het
Uggt2 T C 14: 119,312,758 (GRCm39) I350M probably damaging Het
Unc80 A G 1: 66,548,648 (GRCm39) D640G probably damaging Het
Vmn2r13 A G 5: 109,304,148 (GRCm39) F761S probably damaging Het
Vmn2r54 C T 7: 12,366,355 (GRCm39) C193Y probably damaging Het
Other mutations in Sars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00907:Sars2 APN 7 28,452,848 (GRCm39) unclassified probably benign
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
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 2016-08-02