Incidental Mutation 'R7565:Thnsl2'
ID 585375
Institutional Source Beutler Lab
Gene Symbol Thnsl2
Ensembl Gene ENSMUSG00000054474
Gene Name threonine synthase-like 2 (bacterial)
Synonyms TSH2
MMRRC Submission 045710-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R7565 (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 C at 71141327 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 39 (D39G)
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: D39G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000073861
Gene: ENSMUSG00000054474
AA Change: D39G

DomainStartEndE-ValueType
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: D39G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000124423
Gene: ENSMUSG00000054474
AA Change: D39G

DomainStartEndE-ValueType
Pfam:Thr_synth_N 2 81 1.1e-27 PFAM
Pfam:PALP 94 413 8.4e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik A T 1: 26,685,270 (GRCm38) N276K probably benign Het
9830107B12Rik T A 17: 48,145,579 (GRCm38) Y63F possibly damaging Het
Abi1 A T 2: 22,946,584 (GRCm38) I421N probably benign Het
Ahnak A G 19: 9,016,156 (GRCm38) I4935V probably benign Het
Atg12 A C 18: 46,734,484 (GRCm38) V131G probably damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,888,136 (GRCm38) probably benign Het
BC028528 CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT 3: 95,888,138 (GRCm38) probably benign Het
BC028528 TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG 3: 95,888,144 (GRCm38) probably benign Het
Bcl3 C T 7: 19,812,494 (GRCm38) V139I probably damaging Het
Bloc1s4 T A 5: 36,748,345 (GRCm38) M101L probably benign Het
Bmp6 C T 13: 38,346,257 (GRCm38) Q109* probably null Het
Cabyr C T 18: 12,744,599 (GRCm38) T28I possibly damaging Het
Catsper3 T C 13: 55,784,725 (GRCm38) S22P probably benign Het
Catsperg2 A T 7: 29,712,981 (GRCm38) C395S probably null Het
Cd101 T C 3: 101,018,792 (GRCm38) T208A probably benign Het
Chaf1a A G 17: 56,064,148 (GRCm38) S678G probably benign Het
Chrna2 A C 14: 66,151,035 (GRCm38) I500L probably benign Het
Cln6 C T 9: 62,850,757 (GRCm38) T266I possibly damaging Het
Col17a1 T A 19: 47,671,524 (GRCm38) T330S possibly damaging Het
Cyp2d40 A G 15: 82,760,774 (GRCm38) V225A unknown Het
Dnah10 A G 5: 124,799,031 (GRCm38) N2645D probably damaging Het
Dph5 T A 3: 115,892,797 (GRCm38) V74D probably benign Het
Dthd1 A T 5: 62,843,092 (GRCm38) I586L probably damaging Het
Elane G A 10: 79,887,045 (GRCm38) R95Q probably benign Het
Fbxw17 A G 13: 50,433,362 (GRCm38) T453A probably damaging Het
Fpr3 C A 17: 17,970,965 (GRCm38) T166K probably damaging Het
Fryl A G 5: 73,033,720 (GRCm38) I2724T probably benign Het
Fsip2 C T 2: 82,949,512 (GRCm38) R201C probably damaging Het
Gm14496 T A 2: 181,991,257 (GRCm38) F11Y possibly damaging Het
Gm14496 A G 2: 182,000,837 (GRCm38) N767S probably damaging Het
Hyal4 T A 6: 24,765,934 (GRCm38) M429K possibly damaging Het
Itgad A T 7: 128,183,015 (GRCm38) T208S probably damaging Het
Itpr3 T G 17: 27,110,888 (GRCm38) L1552R probably benign Het
Kcp C T 6: 29,499,187 (GRCm38) C292Y probably damaging Het
Kdr T C 5: 75,948,843 (GRCm38) K958R probably damaging Het
Klhl22 T A 16: 17,789,284 (GRCm38) W485R probably damaging Het
Ldhb T A 6: 142,492,519 (GRCm38) I271F possibly damaging Het
Lmo7 A G 14: 101,885,301 (GRCm38) R309G probably damaging Het
Marco C A 1: 120,474,666 (GRCm38) C517F probably damaging Het
Mpdz G A 4: 81,303,654 (GRCm38) T1423I probably benign Het
Ncoa2 T C 1: 13,148,376 (GRCm38) S1410G probably benign Het
Ncor1 T C 11: 62,401,265 (GRCm38) N283S probably damaging Het
Nlrp14 T A 7: 107,181,887 (GRCm38) L97* probably null Het
Olfm3 T G 3: 115,122,744 (GRCm38) S442A probably damaging Het
Olfr116 T C 17: 37,624,501 (GRCm38) I45V probably damaging Het
Olfr1436 T C 19: 12,298,848 (GRCm38) T95A probably benign Het
Olfr693 T C 7: 106,678,126 (GRCm38) Y120C probably damaging Het
Olfr76 T A 19: 12,120,011 (GRCm38) S234C probably benign Het
Olfr796 A G 10: 129,608,160 (GRCm38) V107A possibly damaging Het
Pank4 G A 4: 154,980,550 (GRCm38) V769I probably benign Het
Pdgfrb G A 18: 61,083,264 (GRCm38) D1065N probably damaging Het
Ppp1r12a G A 10: 108,268,640 (GRCm38) S911N probably benign Het
Prdx6b A G 2: 80,292,990 (GRCm38) T48A probably damaging Het
Pttg1ip A G 10: 77,597,036 (GRCm38) K166E probably damaging Het
Rabgap1l T C 1: 160,251,417 (GRCm38) D9G Het
Rpl13a C T 7: 45,127,042 (GRCm38) G69S probably benign Het
Rps6ka5 T A 12: 100,616,083 (GRCm38) I177F probably damaging Het
Rttn C A 18: 89,060,479 (GRCm38) A1343E probably damaging Het
Ryr2 C T 13: 11,560,653 (GRCm38) V4820I possibly damaging Het
Slc12a7 A G 13: 73,790,772 (GRCm38) I223V possibly damaging Het
Slc9a3 G A 13: 74,157,694 (GRCm38) V277M probably damaging Het
Spata13 A T 14: 60,751,849 (GRCm38) Y988F probably damaging Het
Spo11 A G 2: 172,992,071 (GRCm38) I329V possibly damaging Het
Tcp11l2 A T 10: 84,587,134 (GRCm38) D63V probably damaging Het
Tdrd3 G A 14: 87,506,593 (GRCm38) W659* probably null Het
Thumpd1 A T 7: 119,716,862 (GRCm38) L288* probably null Het
Tram1l1 T C 3: 124,321,907 (GRCm38) Y239H probably damaging Het
Usp38 T A 8: 80,981,972 (GRCm38) E992D probably damaging Het
Usp45 A G 4: 21,784,790 (GRCm38) T159A probably benign Het
Vmn1r218 C T 13: 23,136,660 (GRCm38) T59I probably benign Het
Vmn2r70 T C 7: 85,565,291 (GRCm38) I218V probably benign Het
Xpr1 T C 1: 155,307,742 (GRCm38) I461V probably benign Het
Ydjc T C 16: 17,147,005 (GRCm38) L8P probably damaging Het
Yme1l1 A T 2: 23,160,220 (GRCm38) N21I possibly damaging Het
Zfhx4 T C 3: 5,390,366 (GRCm38) L1140P probably benign Het
Other mutations in Thnsl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Thnsl2 APN 6 71,131,900 (GRCm38) missense probably damaging 1.00
IGL00814:Thnsl2 APN 6 71,139,883 (GRCm38) missense probably damaging 1.00
IGL01139:Thnsl2 APN 6 71,138,734 (GRCm38) missense probably damaging 1.00
IGL01380:Thnsl2 APN 6 71,138,756 (GRCm38) missense probably benign
IGL01511:Thnsl2 APN 6 71,139,793 (GRCm38) missense probably benign 0.04
IGL02000:Thnsl2 APN 6 71,134,219 (GRCm38) missense probably damaging 1.00
IGL03157:Thnsl2 APN 6 71,131,946 (GRCm38) missense probably benign 0.00
R0372:Thnsl2 UTSW 6 71,139,790 (GRCm38) missense probably damaging 1.00
R0380:Thnsl2 UTSW 6 71,141,330 (GRCm38) missense probably damaging 1.00
R0521:Thnsl2 UTSW 6 71,134,259 (GRCm38) missense probably damaging 1.00
R0815:Thnsl2 UTSW 6 71,134,224 (GRCm38) nonsense probably null
R0863:Thnsl2 UTSW 6 71,134,224 (GRCm38) nonsense probably null
R1300:Thnsl2 UTSW 6 71,134,191 (GRCm38) missense probably damaging 1.00
R2867:Thnsl2 UTSW 6 71,131,961 (GRCm38) missense probably damaging 1.00
R2867:Thnsl2 UTSW 6 71,131,961 (GRCm38) missense probably damaging 1.00
R4767:Thnsl2 UTSW 6 71,134,295 (GRCm38) missense probably damaging 1.00
R5578:Thnsl2 UTSW 6 71,138,765 (GRCm38) missense probably benign 0.40
R5818:Thnsl2 UTSW 6 71,134,143 (GRCm38) missense probably benign 0.01
R6627:Thnsl2 UTSW 6 71,134,215 (GRCm38) missense possibly damaging 0.70
R6800:Thnsl2 UTSW 6 71,141,280 (GRCm38) missense probably benign 0.29
R7192:Thnsl2 UTSW 6 71,139,755 (GRCm38) missense probably benign 0.02
R7391:Thnsl2 UTSW 6 71,131,930 (GRCm38) missense probably damaging 1.00
R7516:Thnsl2 UTSW 6 71,132,006 (GRCm38) nonsense probably null
R7980:Thnsl2 UTSW 6 71,138,668 (GRCm38) missense probably damaging 1.00
R7988:Thnsl2 UTSW 6 71,141,319 (GRCm38) missense probably benign 0.38
R8170:Thnsl2 UTSW 6 71,129,333 (GRCm38) missense probably benign 0.05
R8917:Thnsl2 UTSW 6 71,139,943 (GRCm38) missense probably benign
R9547:Thnsl2 UTSW 6 71,139,826 (GRCm38) missense probably damaging 1.00
R9696:Thnsl2 UTSW 6 71,131,946 (GRCm38) missense possibly damaging 0.95
X0021:Thnsl2 UTSW 6 71,128,704 (GRCm38) missense probably benign 0.02
X0066:Thnsl2 UTSW 6 71,139,837 (GRCm38) nonsense probably null
Z1177:Thnsl2 UTSW 6 71,128,841 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GAACTTGCAACTCAGGGAGG -3'
(R):5'- ATATCCCAGTGAGTGGTGGCTC -3'

Sequencing Primer
(F):5'- CTTGCAACTCAGGGAGGGAGTATG -3'
(R):5'- GTCAGAGGACTCCGTATACTTAGC -3'
Posted On 2019-10-17