Incidental Mutation 'R2867:Thnsl2'
ID 266390
Institutional Source Beutler Lab
Gene Symbol Thnsl2
Ensembl Gene ENSMUSG00000054474
Gene Name threonine synthase-like 2 (bacterial)
Synonyms TSH2
MMRRC Submission 040456-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R2867 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 71128166-71144439 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 71131961 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 289 (D289Y)
Ref Sequence ENSEMBL: ENSMUSP00000124423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074241] [ENSMUST00000160918]
AlphaFold Q80W22
Predicted Effect probably damaging
Transcript: ENSMUST00000074241
AA Change: D289Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073861
Gene: ENSMUSG00000054474
AA Change: D289Y

DomainStartEndE-ValueType
Pfam:Thr_synth_N 2 81 2.4e-27 PFAM
Pfam:PALP 93 415 9.6e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160918
AA Change: D289Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124423
Gene: ENSMUSG00000054474
AA Change: D289Y

DomainStartEndE-ValueType
Pfam:Thr_synth_N 2 81 1.1e-27 PFAM
Pfam:PALP 94 413 8.4e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170455
Predicted Effect unknown
Transcript: ENSMUST00000170753
AA Change: D4Y
SMART Domains Protein: ENSMUSP00000129994
Gene: ENSMUSG00000054474
AA Change: D4Y

DomainStartEndE-ValueType
PDB:4F4F|B 2 122 1e-11 PDB
SCOP:d1kl7a_ 2 129 1e-10 SMART
Meta Mutation Damage Score 0.9570 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (30/31)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a threonine synthase-like protein. A similar enzyme in mouse can catalyze the degradation of O-phospho-homoserine to a-ketobutyrate, phosphate, and ammonia. This protein also has phospho-lyase activity on both gamma and beta phosphorylated substrates. In mouse an alternatively spliced form of this protein has been shown to act as a cytokine and can induce the production of the inflammatory cytokine IL6 in osteoblasts. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss T C 1: 177,767,812 probably null Het
Arid3c T C 4: 41,725,958 D215G probably damaging Het
Birc2 A C 9: 7,834,477 M1R probably null Het
Caprin2 G A 6: 148,846,240 silent Het
Cog4 C A 8: 110,866,659 probably benign Het
Cpz T C 5: 35,502,361 K647E probably benign Het
Ctnna2 T C 6: 77,114,922 probably benign Het
Cyp7a1 T C 4: 6,272,493 E240G probably damaging Het
Efhc2 A T X: 17,161,245 probably benign Homo
Epha6 T C 16: 59,960,296 probably null Het
Evc T A 5: 37,316,275 probably benign Het
Fbf1 A G 11: 116,161,448 probably benign Het
Grin2b A G 6: 135,733,639 F970L probably damaging Het
Gtf3c4 A G 2: 28,839,904 probably benign Het
Kcnma1 A T 14: 23,373,207 N682K probably benign Het
Kif20b A G 19: 34,940,128 E631G probably damaging Het
Lctl T C 9: 64,137,868 S550P probably benign Het
Lrrc6 A T 15: 66,438,408 L337* probably null Het
Mapk10 C T 5: 103,038,682 D25N probably benign Het
Mgst2 A G 3: 51,664,533 silent Het
Mslnl G A 17: 25,742,934 V128M probably damaging Het
N4bp1 T C 8: 86,861,405 N302D probably benign Het
Pcdh7 A T 5: 57,721,894 K930N probably damaging Het
Pramef25 T A 4: 143,948,886 I457L probably benign Het
Proca1 A T 11: 78,204,980 N146I probably damaging Het
RP23-211L5.9 T C 6: 68,895,650 probably null Het
Ryr2 A T 13: 11,761,349 W1101R probably damaging Het
Slc35d3 T C 10: 19,849,463 T216A probably benign Het
Terb1 C T 8: 104,447,853 probably benign Het
Tigd4 A G 3: 84,593,952 N59D possibly damaging Het
Togaram2 T C 17: 71,709,597 S649P probably benign Het
Tradd G T 8: 105,259,513 F182L probably benign Het
Trav17 A T 14: 53,806,926 Y50F probably benign Het
Usp37 A T 1: 74,450,532 D808E probably damaging Het
Usp42 G A 5: 143,715,464 P935S possibly damaging Het
Vmn2r23 A G 6: 123,713,164 D333G possibly damaging Het
Zfpm2 C T 15: 41,099,389 A149V probably benign Het
Other mutations in Thnsl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Thnsl2 APN 6 71131900 missense probably damaging 1.00
IGL00814:Thnsl2 APN 6 71139883 missense probably damaging 1.00
IGL01139:Thnsl2 APN 6 71138734 missense probably damaging 1.00
IGL01380:Thnsl2 APN 6 71138756 missense probably benign
IGL01511:Thnsl2 APN 6 71139793 missense probably benign 0.04
IGL02000:Thnsl2 APN 6 71134219 missense probably damaging 1.00
IGL03157:Thnsl2 APN 6 71131946 missense probably benign 0.00
R0372:Thnsl2 UTSW 6 71139790 missense probably damaging 1.00
R0380:Thnsl2 UTSW 6 71141330 missense probably damaging 1.00
R0521:Thnsl2 UTSW 6 71134259 missense probably damaging 1.00
R0815:Thnsl2 UTSW 6 71134224 nonsense probably null
R0863:Thnsl2 UTSW 6 71134224 nonsense probably null
R1300:Thnsl2 UTSW 6 71134191 missense probably damaging 1.00
R2867:Thnsl2 UTSW 6 71131961 missense probably damaging 1.00
R4767:Thnsl2 UTSW 6 71134295 missense probably damaging 1.00
R5578:Thnsl2 UTSW 6 71138765 missense probably benign 0.40
R5818:Thnsl2 UTSW 6 71134143 missense probably benign 0.01
R6627:Thnsl2 UTSW 6 71134215 missense possibly damaging 0.70
R6800:Thnsl2 UTSW 6 71141280 missense probably benign 0.29
R7192:Thnsl2 UTSW 6 71139755 missense probably benign 0.02
R7391:Thnsl2 UTSW 6 71131930 missense probably damaging 1.00
R7516:Thnsl2 UTSW 6 71132006 nonsense probably null
R7565:Thnsl2 UTSW 6 71141327 missense probably benign 0.00
R7980:Thnsl2 UTSW 6 71138668 missense probably damaging 1.00
R7988:Thnsl2 UTSW 6 71141319 missense probably benign 0.38
R8170:Thnsl2 UTSW 6 71129333 missense probably benign 0.05
R8917:Thnsl2 UTSW 6 71139943 missense probably benign
R9547:Thnsl2 UTSW 6 71139826 missense probably damaging 1.00
R9696:Thnsl2 UTSW 6 71131946 missense possibly damaging 0.95
X0021:Thnsl2 UTSW 6 71128704 missense probably benign 0.02
X0066:Thnsl2 UTSW 6 71139837 nonsense probably null
Z1177:Thnsl2 UTSW 6 71128841 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGCAGCCAGAAGATCCTCTC -3'
(R):5'- AGAACAAGGCACAGTGACTATTCG -3'

Sequencing Primer
(F):5'- CAGAAGATCCTCTCCATGTTGTAGG -3'
(R):5'- AGGCACAGTGACTATTCGACTTC -3'
Posted On 2015-02-18