Incidental Mutation 'R0815:Thnsl2'
ID 78567
Institutional Source Beutler Lab
Gene Symbol Thnsl2
Ensembl Gene ENSMUSG00000054474
Gene Name threonine synthase-like 2 (bacterial)
Synonyms TSH2
MMRRC Submission 038995-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R0815 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 71105150-71121364 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 71111208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 220 (L220*)
Ref Sequence ENSEMBL: ENSMUSP00000124423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074241] [ENSMUST00000160918]
AlphaFold Q80W22
Predicted Effect probably null
Transcript: ENSMUST00000074241
AA Change: L220*
SMART Domains Protein: ENSMUSP00000073861
Gene: ENSMUSG00000054474
AA Change: L220*

DomainStartEndE-ValueType
Pfam:Thr_synth_N 2 81 2.4e-27 PFAM
Pfam:PALP 93 415 9.6e-16 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000160918
AA Change: L220*
SMART Domains Protein: ENSMUSP00000124423
Gene: ENSMUSG00000054474
AA Change: L220*

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 probably benign
Transcript: ENSMUST00000170753
SMART Domains Protein: ENSMUSP00000129994
Gene: ENSMUSG00000054474

DomainStartEndE-ValueType
PDB:4F4F|B 2 122 1e-11 PDB
SCOP:d1kl7a_ 2 129 1e-10 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.5%
  • 20x: 91.3%
Validation Efficiency 97% (58/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,865,184 (GRCm39) probably benign Het
Abcf2 A T 5: 24,772,268 (GRCm39) Y487N probably damaging Het
Adcy4 T C 14: 56,021,056 (GRCm39) Y27C probably damaging Het
Atp2a2 T C 5: 122,609,299 (GRCm39) I188V probably benign Het
Cacna1s A T 1: 136,040,695 (GRCm39) I1231F possibly damaging Het
Capn7 T A 14: 31,091,714 (GRCm39) C704S possibly damaging Het
Celsr2 G T 3: 108,308,617 (GRCm39) T1770K possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cul9 T C 17: 46,848,748 (GRCm39) probably null Het
Dpp10 A G 1: 123,360,658 (GRCm39) probably null Het
Dscaml1 A G 9: 45,656,372 (GRCm39) I1571V probably benign Het
Eif3j2 T A 18: 43,610,036 (GRCm39) Y259F probably benign Het
Erc2 A C 14: 27,747,105 (GRCm39) N345T probably benign Het
Fbxo21 T C 5: 118,133,573 (GRCm39) probably benign Het
Frmd8 A T 19: 5,915,084 (GRCm39) probably benign Het
Gfm1 T C 3: 67,381,928 (GRCm39) S705P probably damaging Het
Gucy1b2 T C 14: 62,656,511 (GRCm39) D282G probably benign Het
H2-Ab1 T C 17: 34,486,328 (GRCm39) I129T probably damaging Het
H2-M10.3 T A 17: 36,677,582 (GRCm39) Y232F probably damaging Het
Lipm A T 19: 34,096,161 (GRCm39) T326S probably benign Het
Lrrc8c T C 5: 105,756,400 (GRCm39) L725P probably damaging Het
Map3k19 A G 1: 127,762,375 (GRCm39) probably benign Het
Med31 T A 11: 72,104,657 (GRCm39) N50I probably damaging Het
Myo15b T G 11: 115,757,162 (GRCm39) probably benign Het
Nemp1 T C 10: 127,528,893 (GRCm39) L199S probably damaging Het
Nod2 G A 8: 89,399,290 (GRCm39) probably benign Het
Oga C T 19: 45,771,425 (GRCm39) A49T probably benign Het
Or2ak6 A G 11: 58,593,435 (GRCm39) R303G possibly damaging Het
Or5b21 A G 19: 12,840,008 (GRCm39) I290V probably benign Het
Parva G A 7: 112,167,071 (GRCm39) V215M probably damaging Het
Phf1 T C 17: 27,156,114 (GRCm39) probably benign Het
Plscr1l1 A T 9: 92,233,140 (GRCm39) I88L possibly damaging Het
Ppp1r12c G T 7: 4,489,365 (GRCm39) Q240K probably damaging Het
Ralgapa1 A T 12: 55,809,466 (GRCm39) Y436* probably null Het
Ralgapa1 C A 12: 55,829,562 (GRCm39) probably benign Het
Rbm11 C T 16: 75,393,525 (GRCm39) R74C probably damaging Het
Robo3 A G 9: 37,333,479 (GRCm39) V744A probably damaging Het
Rsbn1 T G 3: 103,861,469 (GRCm39) S522A probably damaging Het
Scel T A 14: 103,823,916 (GRCm39) S381R possibly damaging Het
Sec31b G A 19: 44,506,612 (GRCm39) Q909* probably null Het
Slc38a11 T A 2: 65,184,124 (GRCm39) I176L possibly damaging Het
Slc39a4 C T 15: 76,496,839 (GRCm39) D574N probably damaging Het
Slc44a1 T G 4: 53,536,421 (GRCm39) V199G possibly damaging Het
Sltm A G 9: 70,469,190 (GRCm39) T150A probably benign Het
Son C A 16: 91,452,372 (GRCm39) A373D probably damaging Het
Sp140 C T 1: 85,547,772 (GRCm39) probably benign Het
Speg A G 1: 75,392,036 (GRCm39) Y1606C probably damaging Het
Srgap1 A T 10: 121,621,379 (GRCm39) V1061D probably damaging Het
Stat5a A G 11: 100,765,908 (GRCm39) probably null Het
Supt4a T A 11: 87,628,409 (GRCm39) probably benign Het
Teddm1b A G 1: 153,750,638 (GRCm39) K149R possibly damaging Het
Tinf2 G A 14: 55,917,566 (GRCm39) P308S probably benign Het
Tmem131l A G 3: 83,847,879 (GRCm39) S329P probably benign Het
Tnf T C 17: 35,420,120 (GRCm39) probably benign Het
Upp2 A G 2: 58,661,568 (GRCm39) T144A probably benign Het
Vmn2r94 T G 17: 18,477,973 (GRCm39) Q146P probably damaging Het
Zfhx4 T A 3: 5,310,375 (GRCm39) S919R possibly damaging Het
Other mutations in Thnsl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Thnsl2 APN 6 71,108,884 (GRCm39) missense probably damaging 1.00
IGL00814:Thnsl2 APN 6 71,116,867 (GRCm39) missense probably damaging 1.00
IGL01139:Thnsl2 APN 6 71,115,718 (GRCm39) missense probably damaging 1.00
IGL01380:Thnsl2 APN 6 71,115,740 (GRCm39) missense probably benign
IGL01511:Thnsl2 APN 6 71,116,777 (GRCm39) missense probably benign 0.04
IGL02000:Thnsl2 APN 6 71,111,203 (GRCm39) missense probably damaging 1.00
IGL03157:Thnsl2 APN 6 71,108,930 (GRCm39) missense probably benign 0.00
R0372:Thnsl2 UTSW 6 71,116,774 (GRCm39) missense probably damaging 1.00
R0380:Thnsl2 UTSW 6 71,118,314 (GRCm39) missense probably damaging 1.00
R0521:Thnsl2 UTSW 6 71,111,243 (GRCm39) missense probably damaging 1.00
R0863:Thnsl2 UTSW 6 71,111,208 (GRCm39) nonsense probably null
R1300:Thnsl2 UTSW 6 71,111,175 (GRCm39) missense probably damaging 1.00
R2867:Thnsl2 UTSW 6 71,108,945 (GRCm39) missense probably damaging 1.00
R2867:Thnsl2 UTSW 6 71,108,945 (GRCm39) missense probably damaging 1.00
R4767:Thnsl2 UTSW 6 71,111,279 (GRCm39) missense probably damaging 1.00
R5578:Thnsl2 UTSW 6 71,115,749 (GRCm39) missense probably benign 0.40
R5818:Thnsl2 UTSW 6 71,111,127 (GRCm39) missense probably benign 0.01
R6627:Thnsl2 UTSW 6 71,111,199 (GRCm39) missense possibly damaging 0.70
R6800:Thnsl2 UTSW 6 71,118,264 (GRCm39) missense probably benign 0.29
R7192:Thnsl2 UTSW 6 71,116,739 (GRCm39) missense probably benign 0.02
R7391:Thnsl2 UTSW 6 71,108,914 (GRCm39) missense probably damaging 1.00
R7516:Thnsl2 UTSW 6 71,108,990 (GRCm39) nonsense probably null
R7565:Thnsl2 UTSW 6 71,118,311 (GRCm39) missense probably benign 0.00
R7980:Thnsl2 UTSW 6 71,115,652 (GRCm39) missense probably damaging 1.00
R7988:Thnsl2 UTSW 6 71,118,303 (GRCm39) missense probably benign 0.38
R8170:Thnsl2 UTSW 6 71,106,317 (GRCm39) missense probably benign 0.05
R8917:Thnsl2 UTSW 6 71,116,927 (GRCm39) missense probably benign
R9547:Thnsl2 UTSW 6 71,116,810 (GRCm39) missense probably damaging 1.00
R9696:Thnsl2 UTSW 6 71,108,930 (GRCm39) missense possibly damaging 0.95
X0021:Thnsl2 UTSW 6 71,105,688 (GRCm39) missense probably benign 0.02
X0066:Thnsl2 UTSW 6 71,116,821 (GRCm39) nonsense probably null
Z1177:Thnsl2 UTSW 6 71,105,825 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCAAAGTCCGTTTGCATCCCAG -3'
(R):5'- TGGGTTCAATCCCTAAGGAGCTTACAC -3'

Sequencing Primer
(F):5'- AGGGTCTCCTTACCTGCAAG -3'
(R):5'- CTAAGGAGCTTACACGGAGCC -3'
Posted On 2013-10-16