Incidental Mutation 'R6282:Sars1'
ID 507986
Institutional Source Beutler Lab
Gene Symbol Sars1
Ensembl Gene ENSMUSG00000068739
Gene Name seryl-tRNA synthetase 1
Synonyms Sars, Strs
MMRRC Submission 044452-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6282 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 108332181-108352525 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 108335590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 338 (S338*)
Ref Sequence ENSEMBL: ENSMUSP00000120879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090553] [ENSMUST00000102625] [ENSMUST00000132467] [ENSMUST00000153499]
AlphaFold P26638
Predicted Effect probably null
Transcript: ENSMUST00000090553
AA Change: S386*
SMART Domains Protein: ENSMUSP00000088041
Gene: ENSMUSG00000068739
AA Change: S386*

DomainStartEndE-ValueType
Pfam:Seryl_tRNA_N 2 113 1.5e-20 PFAM
Pfam:tRNA-synt_2b 203 386 4.1e-39 PFAM
low complexity region 481 497 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000102625
AA Change: S386*
SMART Domains Protein: ENSMUSP00000099685
Gene: ENSMUSG00000068739
AA Change: S386*

DomainStartEndE-ValueType
Pfam:Seryl_tRNA_N 2 113 1.3e-22 PFAM
Pfam:tRNA-synt_2b 248 427 2.1e-41 PFAM
low complexity region 505 521 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000132467
AA Change: S338*
SMART Domains Protein: ENSMUSP00000120879
Gene: ENSMUSG00000068739
AA Change: S338*

DomainStartEndE-ValueType
Pfam:Seryl_tRNA_N 2 113 6.1e-23 PFAM
Pfam:tRNA-synt_2b 155 338 1.4e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153499
SMART Domains Protein: ENSMUSP00000118676
Gene: ENSMUSG00000068739

DomainStartEndE-ValueType
Pfam:Seryl_tRNA_N 2 113 1.5e-23 PFAM
PDB:3VBB|F 150 187 3e-18 PDB
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 98% (45/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,690,781 (GRCm39) L185Q possibly damaging Het
Abca6 A T 11: 110,099,650 (GRCm39) C966S probably damaging Het
Atp13a4 A T 16: 29,252,822 (GRCm39) I708N probably benign Het
Axin1 C G 17: 26,362,011 (GRCm39) D118E probably damaging Het
Bace2 A T 16: 97,216,297 (GRCm39) I297F probably damaging Het
Ccdc30 T A 4: 119,181,214 (GRCm39) D649V probably damaging Het
Cd180 G A 13: 102,830,265 (GRCm39) A20T possibly damaging Het
Cdk18 T C 1: 132,047,758 (GRCm39) D112G probably damaging Het
Cuedc1 A G 11: 88,074,228 (GRCm39) N254S probably damaging Het
Dnah7a T C 1: 53,542,760 (GRCm39) H2470R probably damaging Het
Drap1 G A 19: 5,474,464 (GRCm39) probably null Het
Fbxo5 T A 10: 5,751,216 (GRCm39) K257M probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm12790 A G 4: 101,824,713 (GRCm39) V185A possibly damaging Het
Gm7361 A G 5: 26,465,411 (GRCm39) N136S probably benign Het
Il10ra C A 9: 45,171,703 (GRCm39) C255F probably damaging Het
Insyn2b A G 11: 34,352,819 (GRCm39) D287G possibly damaging Het
Itgam A T 7: 127,684,114 (GRCm39) T340S probably benign Het
Ktn1 A T 14: 47,901,428 (GRCm39) N62I probably damaging Het
Ldb2 A G 5: 44,690,007 (GRCm39) L204P probably damaging Het
Map2k4 T C 11: 65,597,842 (GRCm39) T90A possibly damaging Het
Mettl3 A T 14: 52,535,428 (GRCm39) D287E probably benign Het
Mier2 A G 10: 79,380,576 (GRCm39) F278S probably damaging Het
Mis18bp1 A G 12: 65,195,937 (GRCm39) M609T probably benign Het
Myo1d A T 11: 80,448,338 (GRCm39) V929D probably damaging Het
Naprt A T 15: 75,763,828 (GRCm39) M364K probably benign Het
Nod2 T A 8: 89,397,088 (GRCm39) C833S probably benign Het
Nrip3 C T 7: 109,362,686 (GRCm39) probably null Het
Ntsr2 A G 12: 16,708,426 (GRCm39) Y320C probably damaging Het
Or14j8 G A 17: 38,263,315 (GRCm39) S200F possibly damaging Het
Or4p7 C A 2: 88,221,877 (GRCm39) C95* probably null Het
Or51h1 G A 7: 102,308,854 (GRCm39) M275I probably benign Het
Osbpl3 A T 6: 50,325,063 (GRCm39) probably null Het
Pcdhb3 C T 18: 37,434,699 (GRCm39) R222C probably damaging Het
Pik3cd G T 4: 149,744,200 (GRCm39) R184S probably benign Het
Pramel32 T C 4: 88,548,291 (GRCm39) E38G probably damaging Het
Rad50 A T 11: 53,560,597 (GRCm39) probably null Het
Rad51ap2 A T 12: 11,507,560 (GRCm39) H494L probably benign Het
Rbm25 T C 12: 83,722,863 (GRCm39) M762T probably damaging Het
Usp35 T C 7: 96,975,155 (GRCm39) E6G probably damaging Het
Vash2 T C 1: 190,692,422 (GRCm39) Y251C probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdr20 T A 12: 110,763,443 (GRCm39) probably benign Het
Wfdc1 G A 8: 120,406,146 (GRCm39) C87Y probably damaging Het
Zfp985 T A 4: 147,667,805 (GRCm39) H224Q probably benign Het
Other mutations in Sars1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01083:Sars1 APN 3 108,334,174 (GRCm39) missense probably damaging 0.99
IGL02898:Sars1 APN 3 108,336,579 (GRCm39) missense probably damaging 1.00
R0660:Sars1 UTSW 3 108,338,789 (GRCm39) missense probably damaging 1.00
R0749:Sars1 UTSW 3 108,335,582 (GRCm39) missense possibly damaging 0.95
R0855:Sars1 UTSW 3 108,334,248 (GRCm39) missense probably benign 0.07
R1249:Sars1 UTSW 3 108,343,251 (GRCm39) missense probably benign 0.14
R1540:Sars1 UTSW 3 108,340,461 (GRCm39) missense probably benign 0.01
R1659:Sars1 UTSW 3 108,336,732 (GRCm39) missense probably damaging 1.00
R1836:Sars1 UTSW 3 108,343,260 (GRCm39) missense probably benign 0.00
R2120:Sars1 UTSW 3 108,341,472 (GRCm39) missense probably benign 0.00
R3104:Sars1 UTSW 3 108,336,621 (GRCm39) missense probably damaging 1.00
R3105:Sars1 UTSW 3 108,336,621 (GRCm39) missense probably damaging 1.00
R7224:Sars1 UTSW 3 108,335,519 (GRCm39) missense probably damaging 1.00
R7706:Sars1 UTSW 3 108,338,780 (GRCm39) critical splice donor site probably null
R8219:Sars1 UTSW 3 108,352,378 (GRCm39) missense probably benign 0.02
R8353:Sars1 UTSW 3 108,336,029 (GRCm39) missense probably benign 0.14
R8398:Sars1 UTSW 3 108,335,489 (GRCm39) critical splice donor site probably null
R8453:Sars1 UTSW 3 108,336,029 (GRCm39) missense probably benign 0.14
R9687:Sars1 UTSW 3 108,343,221 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- GACTGAGCTGATTTTCTCATGATG -3'
(R):5'- CCGGAGCATTTGGTGATGAG -3'

Sequencing Primer
(F):5'- TCTCATGATGCTGGAAACATACACTC -3'
(R):5'- ATGAGATCTGAGTGTGATTTCCC -3'
Posted On 2018-03-15