Incidental Mutation 'IGL01511:Thnsl2'
ID 89238
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thnsl2
Ensembl Gene ENSMUSG00000054474
Gene Name threonine synthase-like 2 (bacterial)
Synonyms TSH2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL01511
Quality Score
Chromosome 6
Chromosomal Location 71105150-71121364 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 71116777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 125 (Q125P)
Ref Sequence ENSEMBL: ENSMUSP00000124423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074241] [ENSMUST00000160918]
AlphaFold Q80W22
Predicted Effect probably benign
Transcript: ENSMUST00000074241
AA Change: Q125P

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000073861
Gene: ENSMUSG00000054474
AA Change: Q125P

Pfam:Thr_synth_N 2 81 2.4e-27 PFAM
Pfam:PALP 93 415 9.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160918
AA Change: Q125P

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000124423
Gene: ENSMUSG00000054474
AA Change: Q125P

Pfam:Thr_synth_N 2 81 1.1e-27 PFAM
Pfam:PALP 94 413 8.4e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170455
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 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,135,136 (GRCm39) D216E probably benign Het
Abcc4 C A 14: 118,836,753 (GRCm39) L669F probably benign Het
Adam29 C T 8: 56,324,456 (GRCm39) G666D probably damaging Het
Adat2 T G 10: 13,435,982 (GRCm39) M109R probably null Het
Atf3 T A 1: 190,903,693 (GRCm39) T178S probably benign Het
Birc6 T A 17: 74,933,998 (GRCm39) Y2522* probably null Het
Ccr8 G A 9: 119,923,691 (GRCm39) G269R probably damaging Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Chrna4 C T 2: 180,670,461 (GRCm39) V432I probably benign Het
Commd8 A G 5: 72,322,722 (GRCm39) V65A probably benign Het
Cyp2j13 A G 4: 95,965,552 (GRCm39) F52L possibly damaging Het
Desi1 T A 15: 81,886,789 (GRCm39) K45* probably null Het
Dmbt1 T A 7: 130,718,457 (GRCm39) M1552K possibly damaging Het
Dna2 G A 10: 62,791,093 (GRCm39) M197I possibly damaging Het
Dnah7a A C 1: 53,458,754 (GRCm39) L3795V probably damaging Het
Dnai4 T C 4: 102,905,558 (GRCm39) D741G possibly damaging Het
Fam221b T C 4: 43,660,135 (GRCm39) probably null Het
Fbxw18 A T 9: 109,517,889 (GRCm39) S366T possibly damaging Het
Fzd8 A G 18: 9,213,293 (GRCm39) Y125C unknown Het
Gcsam T C 16: 45,436,315 (GRCm39) Y11H probably damaging Het
Gucy2f G T X: 140,944,730 (GRCm39) D410E probably damaging Het
Hdac3 C T 18: 38,085,648 (GRCm39) A53T probably benign Het
Lamp2 A G X: 37,520,752 (GRCm39) L244P probably damaging Het
Lrrk1 A T 7: 65,915,198 (GRCm39) F1630Y possibly damaging Het
M1ap C A 6: 83,005,393 (GRCm39) D434E probably benign Het
Mcmbp A G 7: 128,308,888 (GRCm39) Y378H probably damaging Het
Mvb12a T A 8: 71,997,946 (GRCm39) V120E probably damaging Het
Nbeal2 A C 9: 110,458,302 (GRCm39) W2063G probably damaging Het
Neto1 A C 18: 86,414,033 (GRCm39) H9P possibly damaging Het
Nmu C T 5: 76,488,668 (GRCm39) V126M probably damaging Het
Odf2 T C 2: 29,804,321 (GRCm39) probably benign Het
Or2y15 A G 11: 49,351,043 (GRCm39) E179G probably damaging Het
Pdzrn3 T C 6: 101,130,217 (GRCm39) H533R possibly damaging Het
Pikfyve G T 1: 65,298,028 (GRCm39) E1586* probably null Het
Plcb3 C A 19: 6,933,211 (GRCm39) R970L probably damaging Het
Plxna3 A G X: 73,378,914 (GRCm39) E686G probably damaging Het
Polrmt T A 10: 79,575,985 (GRCm39) Y586F probably benign Het
Ppt1 T A 4: 122,748,218 (GRCm39) F225I probably damaging Het
Prcc T G 3: 87,779,548 (GRCm39) D162A probably damaging Het
Ripor1 T C 8: 106,346,562 (GRCm39) probably benign Het
Rnaseh1 A G 12: 28,709,008 (GRCm39) H263R probably damaging Het
Rnf19b T A 4: 128,974,211 (GRCm39) S490R probably damaging Het
Slc15a2 T A 16: 36,605,088 (GRCm39) T23S probably damaging Het
Slc34a1 T C 13: 24,003,121 (GRCm39) probably null Het
Slc35f4 T C 14: 49,536,334 (GRCm39) M434V probably benign Het
Slc52a3 C T 2: 151,846,564 (GRCm39) T175I probably benign Het
Slc5a2 C T 7: 127,869,794 (GRCm39) T409M probably benign Het
Tbc1d24 A G 17: 24,400,892 (GRCm39) S108P probably benign Het
Ttc13 T C 8: 125,403,110 (GRCm39) D672G probably damaging Het
Ttn G T 2: 76,584,089 (GRCm39) H14013N possibly damaging Het
Unc5a T C 13: 55,152,629 (GRCm39) F792L probably damaging Het
Vac14 T C 8: 111,439,430 (GRCm39) V669A possibly damaging Het
Vmn1r13 A T 6: 57,187,314 (GRCm39) M158L probably benign Het
Vmn1r220 A T 13: 23,368,384 (GRCm39) V104D probably damaging Het
Zfp738 A T 13: 67,831,520 (GRCm39) probably null Het
Zscan5b A C 7: 6,234,421 (GRCm39) H149P probably benign 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
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
R0815:Thnsl2 UTSW 6 71,111,208 (GRCm39) nonsense probably null
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
Posted On 2013-12-03