Incidental Mutation 'R9696:Thnsl2'
ID 729282
Institutional Source Beutler Lab
Gene Symbol Thnsl2
Ensembl Gene ENSMUSG00000054474
Gene Name threonine synthase-like 2 (bacterial)
Synonyms TSH2
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R9696 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 71128166-71144439 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 71131946 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 294 (T294P)
Ref Sequence ENSEMBL: ENSMUSP00000124423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074241] [ENSMUST00000160918]
AlphaFold Q80W22
Predicted Effect possibly damaging
Transcript: ENSMUST00000074241
AA Change: T294P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073861
Gene: ENSMUSG00000054474
AA Change: T294P

DomainStartEndE-ValueType
Pfam:Thr_synth_N 2 81 2.4e-27 PFAM
Pfam:PALP 93 415 9.6e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000160918
AA Change: T294P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124423
Gene: ENSMUSG00000054474
AA Change: T294P

DomainStartEndE-ValueType
Pfam:Thr_synth_N 2 81 1.1e-27 PFAM
Pfam:PALP 94 413 8.4e-17 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000129994
Gene: ENSMUSG00000054474
AA Change: T9P

DomainStartEndE-ValueType
PDB:4F4F|B 2 122 1e-11 PDB
SCOP:d1kl7a_ 2 129 1e-10 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T C 2: 30,801,244 D105G possibly damaging Het
4930407I10Rik A G 15: 82,065,496 N1198S probably benign Het
Abca14 A T 7: 120,289,511 I1227F possibly damaging Het
Abhd10 T C 16: 45,731,679 D277G probably damaging Het
Adam20 A G 8: 40,796,596 N581S probably damaging Het
Apbb1ip A T 2: 22,835,977 T254S probably benign Het
Arap3 T C 18: 37,979,852 T1102A probably damaging Het
Asb16 A T 11: 102,268,940 R40W probably damaging Het
Birc6 T A 17: 74,640,297 S3019T probably damaging Het
Btbd18 T A 2: 84,667,510 C497* probably null Het
Cacna1h T C 17: 25,383,241 M1542V possibly damaging Het
Ccdc8 T G 7: 16,996,162 S525R unknown Het
Ch25h G A 19: 34,474,547 R194W probably damaging Het
Ciapin1 C A 8: 94,828,437 L130F probably damaging Het
Cnfn G T 7: 25,368,090 T54N probably damaging Het
Cop1 A T 1: 159,249,213 I195F probably damaging Het
Daam1 A G 12: 71,944,373 R254G unknown Het
Dcaf13 T C 15: 39,138,101 M268T possibly damaging Het
Disp3 C A 4: 148,261,154 V410L probably damaging Het
Dus4l A T 12: 31,646,648 I110K probably damaging Het
Endov C T 11: 119,507,222 P271L probably damaging Het
Epha2 A G 4: 141,320,523 I539V probably benign Het
Ercc4 A T 16: 13,132,946 I635L probably damaging Het
Exosc10 A G 4: 148,565,247 D378G probably damaging Het
Fmnl1 A G 11: 103,195,471 D804G unknown Het
Gm11983 T A 11: 6,837,020 I36F unknown Het
Gm11992 A T 11: 9,056,438 I123L probably benign Het
Gm13762 T G 2: 88,973,271 I207L probably benign Het
Gm19965 T C 1: 116,803,108 probably benign Het
Gm19965 A G 1: 116,821,480 D297G Het
Gpr180 G A 14: 118,153,890 G235R probably damaging Het
Gse1 T C 8: 120,229,541 V257A unknown Het
Haus1 A T 18: 77,759,502 S225T probably benign Het
Hgf A G 5: 16,572,536 Y177C probably damaging Het
Insig1 T C 5: 28,074,548 W184R probably damaging Het
Krt5 A T 15: 101,707,706 S491R unknown Het
Lcn5 A G 2: 25,660,130 I110V probably benign Het
Lin9 A T 1: 180,669,168 S341C possibly damaging Het
Magi2 C T 5: 20,465,866 H403Y probably benign Het
Mapk1ip1l C T 14: 47,310,883 P163S probably damaging Het
Mbtd1 A G 11: 93,932,392 D568G probably damaging Het
Mdp1 A G 14: 55,659,247 V119A probably benign Het
Me1 A G 9: 86,586,994 I506T probably damaging Het
Med1 A G 11: 98,170,946 probably null Het
Med25 T A 7: 44,880,100 Q656L probably benign Het
Memo1 A C 17: 74,217,046 I213S probably damaging Het
Mfsd14b C A 13: 65,073,600 V293L probably benign Het
Mpi T C 9: 57,545,256 D331G probably benign Het
Muc4 T C 16: 32,753,284 I1054T probably benign Het
Nat10 T C 2: 103,725,695 E927G possibly damaging Het
Nlrp9a T C 7: 26,575,608 L930P unknown Het
Nt5c3b A T 11: 100,432,985 I167N probably damaging Het
Ogdh T C 11: 6,339,209 S308P probably damaging Het
Olfr10 A G 11: 49,317,563 I6V probably benign Het
Olfr678 T A 7: 105,070,076 V203D probably damaging Het
Olfr877 G A 9: 37,855,375 E186K probably benign Het
Parl A G 16: 20,286,940 V244A probably benign Het
Parp14 T C 16: 35,840,881 K1566E possibly damaging Het
Parp14 G T 16: 35,840,882 D1565E probably damaging Het
Pcdhb18 T A 18: 37,490,553 I312K possibly damaging Het
Pcnp A T 16: 56,024,504 probably benign Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 probably benign Het
Rab10 T A 12: 3,256,947 M83L probably benign Het
Rabep1 A G 11: 70,923,203 S616G probably benign Het
Rnf213 G A 11: 119,468,980 V4400M Het
Samd9l T A 6: 3,375,078 I728F possibly damaging Het
Scaf4 T A 16: 90,247,234 D620V unknown Het
Scnn1b A T 7: 121,899,239 M1L probably damaging Het
Sec23b T A 2: 144,586,423 M652K probably benign Het
Selenoi T C 5: 30,248,415 F44L probably benign Het
Slc36a3 A T 11: 55,135,335 V219E possibly damaging Het
Sncaip A T 18: 52,905,843 Q543L probably damaging Het
Stmnd1 A G 13: 46,289,748 I119V probably damaging Het
Strn3 T A 12: 51,629,503 E414D probably damaging Het
Syne1 T A 10: 5,347,847 H1150L probably benign Het
Tdrd7 A G 4: 46,016,888 N676S possibly damaging Het
Tgs1 A T 4: 3,575,071 I16F possibly damaging Het
Tmem156 A G 5: 65,073,804 I241T possibly damaging Het
Unc13a A T 8: 71,629,553 M1689K possibly damaging Het
Uri1 T C 7: 37,965,313 D318G probably benign Het
Vmn2r86 T A 10: 130,449,833 Q491L possibly damaging Het
Vps13b C A 15: 35,674,887 Q1718K possibly damaging 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
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
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'- AGAGCAGCCAGAAGATCCTC -3'
(R):5'- GAACAAGGCACAGTGACTATTCG -3'

Sequencing Primer
(F):5'- CAGAAGATCCTCTCCATGTTGTAGG -3'
(R):5'- AGGCACAGTGACTATTCGACTTC -3'
Posted On 2022-10-06