Incidental Mutation 'R4795:Thnsl1'
ID 368898
Institutional Source Beutler Lab
Gene Symbol Thnsl1
Ensembl Gene ENSMUSG00000048550
Gene Name threonine synthase-like 1 (bacterial)
Synonyms
MMRRC Submission 041996-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R4795 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 21210535-21219820 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 21216856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 203 (C203*)
Ref Sequence ENSEMBL: ENSMUSP00000052452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054591] [ENSMUST00000102951] [ENSMUST00000102952] [ENSMUST00000138914] [ENSMUST00000138965]
AlphaFold Q8BH55
Predicted Effect probably null
Transcript: ENSMUST00000054591
AA Change: C203*
SMART Domains Protein: ENSMUSP00000052452
Gene: ENSMUSG00000048550
AA Change: C203*

DomainStartEndE-ValueType
Pfam:AAA_17 57 202 2e-8 PFAM
Pfam:SKI 64 221 5.8e-40 PFAM
Pfam:Thr_synth_N 230 318 3.2e-16 PFAM
Pfam:PALP 326 659 2.2e-9 PFAM
low complexity region 684 701 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102951
SMART Domains Protein: ENSMUSP00000100016
Gene: ENSMUSG00000048550

DomainStartEndE-ValueType
PDB:1KL7|B 2 158 2e-27 PDB
SCOP:d1kl7a_ 2 214 7e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102952
SMART Domains Protein: ENSMUSP00000100017
Gene: ENSMUSG00000048550

DomainStartEndE-ValueType
PDB:1KL7|B 2 158 2e-27 PDB
SCOP:d1kl7a_ 2 214 7e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138914
Predicted Effect probably benign
Transcript: ENSMUST00000138965
SMART Domains Protein: ENSMUSP00000115186
Gene: ENSMUSG00000048550

DomainStartEndE-ValueType
PDB:1KL7|B 2 93 5e-16 PDB
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 98% (123/125)
Allele List at MGI
Other mutations in this stock
Total: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T G 3: 121,969,772 (GRCm39) L2259R probably damaging Het
Acd A G 8: 106,427,647 (GRCm39) S2P possibly damaging Het
Acsf3 A G 8: 123,506,896 (GRCm39) Y63C possibly damaging Het
Adam21 T C 12: 81,607,748 (GRCm39) I5V probably benign Het
Adamts6 C A 13: 104,580,636 (GRCm39) S783* probably null Het
Adamtsl1 T C 4: 86,162,006 (GRCm39) probably null Het
Adck2 T A 6: 39,553,327 (GRCm39) S313T probably benign Het
Adgb A G 10: 10,233,616 (GRCm39) I1285T probably benign Het
Angptl1 T A 1: 156,688,153 (GRCm39) M485K possibly damaging Het
Ank3 G A 10: 69,694,095 (GRCm39) V289I probably benign Het
Atp13a4 A G 16: 29,308,826 (GRCm39) probably null Het
Atp1a1 A G 3: 101,491,091 (GRCm39) L648P probably benign Het
Atp2a3 A G 11: 72,863,855 (GRCm39) I194V probably benign Het
Bglap A C 3: 88,291,712 (GRCm39) I4S unknown Het
Cacna1b T A 2: 24,527,499 (GRCm39) T1621S possibly damaging Het
Ccdc112 T A 18: 46,420,739 (GRCm39) Q337L probably benign Het
Ccdc121rt3 A G 5: 112,503,165 (GRCm39) S180P possibly damaging Het
Cd34 T G 1: 194,633,319 (GRCm39) S194A probably damaging Het
Cdh20 A G 1: 104,868,989 (GRCm39) D160G probably damaging Het
Clock T C 5: 76,413,763 (GRCm39) K44R probably damaging Het
Commd9 A G 2: 101,729,241 (GRCm39) N116D probably benign Het
Dab2 C A 15: 6,459,092 (GRCm39) P335T probably benign Het
Epb41l3 T A 17: 69,555,714 (GRCm39) probably null Het
Epha2 A G 4: 141,049,727 (GRCm39) probably null Het
Fam78b T C 1: 166,906,216 (GRCm39) V125A probably benign Het
Fars2 A T 13: 36,721,400 (GRCm39) E448V probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Glyr1 A C 16: 4,865,622 (GRCm39) V44G probably benign Het
Gm1527 A G 3: 28,974,812 (GRCm39) I542V possibly damaging Het
Gm18856 C A 13: 14,139,793 (GRCm39) probably benign Het
Gm44501 A G 17: 40,889,605 (GRCm39) K40E probably benign Het
Hdhd5 T C 6: 120,500,407 (GRCm39) H97R probably benign Het
Hmcn1 A G 1: 150,629,362 (GRCm39) V965A probably benign Het
Hsf5 A G 11: 87,526,446 (GRCm39) M373V probably benign Het
Igbp1b C T 6: 138,634,803 (GRCm39) E214K probably benign Het
Iigp1 T A 18: 60,522,964 (GRCm39) F27L probably benign Het
Isl1 T C 13: 116,441,966 (GRCm39) N89S probably benign Het
Itga1 C A 13: 115,171,921 (GRCm39) W61C probably damaging Het
Itga5 T C 15: 103,256,187 (GRCm39) R922G probably benign Het
Kbtbd3 G A 9: 4,331,073 (GRCm39) W482* probably null Het
Kcnq1 A G 7: 142,736,494 (GRCm39) T168A probably benign Het
Lrch3 A G 16: 32,826,074 (GRCm39) N631S probably damaging Het
Lrrk1 T A 7: 65,912,413 (GRCm39) I1716F possibly damaging Het
Ly75 T C 2: 60,180,284 (GRCm39) E631G probably benign Het
Map4 T C 9: 109,864,331 (GRCm39) S519P probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Mrtfa C T 15: 80,901,234 (GRCm39) S419N probably damaging Het
Muc5b A G 7: 141,403,304 (GRCm39) E755G unknown Het
Ncaph2 T G 15: 89,255,010 (GRCm39) V478G probably damaging Het
Ncbp1 A G 4: 46,152,967 (GRCm39) R247G possibly damaging Het
Necab1 G T 4: 15,111,208 (GRCm39) D73E possibly damaging Het
Nedd9 T C 13: 41,471,376 (GRCm39) K208E probably benign Het
Nfyb A T 10: 82,588,202 (GRCm39) probably benign Het
Nol4 T C 18: 23,054,944 (GRCm39) Q162R probably damaging Het
Nwd2 G A 5: 63,962,776 (GRCm39) D787N probably benign Het
Olfr908 T A 9: 38,427,799 (GRCm39) M157K probably damaging Het
Or10a5 A T 7: 106,636,121 (GRCm39) Y253F probably benign Het
Or11g7 A C 14: 50,690,874 (GRCm39) M122L probably damaging Het
Or13a22 A G 7: 140,072,920 (GRCm39) D123G probably damaging Het
Or5ac23 C T 16: 59,149,213 (GRCm39) V220I probably benign Het
Or6a2 C T 7: 106,600,542 (GRCm39) G175D probably damaging Het
Or6e1 A G 14: 54,520,004 (GRCm39) M116T probably damaging Het
Orai3 T C 7: 127,373,060 (GRCm39) V187A probably benign Het
Parn T C 16: 13,424,066 (GRCm39) T444A probably benign Het
Pcdh11x A C X: 119,309,937 (GRCm39) N460T probably damaging Het
Pcnt C T 10: 76,205,858 (GRCm39) R2516H probably benign Het
Pde4d T A 13: 110,074,705 (GRCm39) probably benign Het
Pdgfra A G 5: 75,349,972 (GRCm39) N952S probably benign Het
Pgm2 A G 5: 64,261,217 (GRCm39) Y237C probably damaging Het
Plcb2 A G 2: 118,541,605 (GRCm39) V975A probably benign Het
Polk T C 13: 96,625,764 (GRCm39) T347A probably benign Het
Ppp6r1 C T 7: 4,644,053 (GRCm39) V430M possibly damaging Het
Ptges2 C A 2: 32,286,334 (GRCm39) C16* probably null Het
Relb A T 7: 19,353,764 (GRCm39) I38N probably damaging Het
Runx1t1 T A 4: 13,837,767 (GRCm39) N51K probably damaging Het
Samsn1 A G 16: 75,680,733 (GRCm39) probably benign Het
Scrn1 A G 6: 54,497,754 (GRCm39) V279A possibly damaging Het
Sec31b A G 19: 44,520,185 (GRCm39) S200P probably benign Het
Selp A G 1: 163,972,475 (GRCm39) T705A probably benign Het
Slc2a1 G A 4: 118,989,642 (GRCm39) R61Q probably damaging Het
Slit3 G A 11: 35,542,647 (GRCm39) probably null Het
Smo T A 6: 29,755,573 (GRCm39) V415E probably damaging Het
Spag8 C A 4: 43,652,035 (GRCm39) V350L possibly damaging Het
Tbck T G 3: 132,413,559 (GRCm39) L132R possibly damaging Het
Tm9sf2 T A 14: 122,387,252 (GRCm39) probably null Het
Tmem131 A G 1: 36,880,757 (GRCm39) V171A probably damaging Het
Tmem209 T C 6: 30,501,954 (GRCm39) T83A probably benign Het
Tmem63a T C 1: 180,782,416 (GRCm39) Y138H probably damaging Het
Trim80 A G 11: 115,338,769 (GRCm39) Y533C probably damaging Het
Trpv2 A G 11: 62,472,006 (GRCm39) D66G possibly damaging Het
Trrap T A 5: 144,769,298 (GRCm39) I2620N probably benign Het
Ttyh3 A T 5: 140,620,541 (GRCm39) I232N probably damaging Het
Ube2dnl1 G A X: 113,815,482 (GRCm39) C119Y possibly damaging Het
Unc13c T A 9: 73,839,469 (GRCm39) S461C probably damaging Het
Unc80 T G 1: 66,567,100 (GRCm39) I902S probably damaging Het
Usp42 C A 5: 143,709,692 (GRCm39) G170W probably damaging Het
Vldlr T C 19: 27,216,252 (GRCm39) probably null Het
Ywhab A G 2: 163,857,265 (GRCm39) Y180C probably damaging Het
Zan A T 5: 137,379,112 (GRCm39) C5329* probably null Het
Zbtb40 C T 4: 136,725,953 (GRCm39) M535I probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp318 A G 17: 46,722,988 (GRCm39) T1664A probably benign Het
Zfp7 T A 15: 76,775,546 (GRCm39) C529* probably null Het
Zfp768 T C 7: 126,942,547 (GRCm39) Q527R possibly damaging Het
Zfp975 T A 7: 42,314,570 (GRCm39) probably null Het
Other mutations in Thnsl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Thnsl1 APN 2 21,217,260 (GRCm39) missense possibly damaging 0.47
IGL00756:Thnsl1 APN 2 21,217,423 (GRCm39) missense probably benign 0.02
IGL00952:Thnsl1 APN 2 21,216,767 (GRCm39) missense possibly damaging 0.89
IGL01020:Thnsl1 APN 2 21,217,305 (GRCm39) missense probably damaging 0.99
IGL01350:Thnsl1 APN 2 21,217,011 (GRCm39) missense probably benign 0.30
IGL01476:Thnsl1 APN 2 21,216,970 (GRCm39) missense probably benign 0.00
IGL01548:Thnsl1 APN 2 21,217,943 (GRCm39) missense probably damaging 1.00
IGL01916:Thnsl1 APN 2 21,217,476 (GRCm39) missense possibly damaging 0.66
IGL02176:Thnsl1 APN 2 21,216,665 (GRCm39) missense possibly damaging 0.69
IGL03001:Thnsl1 APN 2 21,216,455 (GRCm39) missense probably damaging 0.99
IGL03219:Thnsl1 APN 2 21,217,217 (GRCm39) missense probably benign 0.14
IGL03386:Thnsl1 APN 2 21,216,359 (GRCm39) missense probably benign 0.01
R0684:Thnsl1 UTSW 2 21,216,477 (GRCm39) missense probably benign 0.02
R0738:Thnsl1 UTSW 2 21,218,173 (GRCm39) missense probably damaging 1.00
R1119:Thnsl1 UTSW 2 21,217,857 (GRCm39) missense probably damaging 1.00
R1121:Thnsl1 UTSW 2 21,216,975 (GRCm39) missense probably benign 0.00
R2150:Thnsl1 UTSW 2 21,217,344 (GRCm39) missense probably benign 0.08
R3545:Thnsl1 UTSW 2 21,217,438 (GRCm39) missense probably benign 0.01
R3547:Thnsl1 UTSW 2 21,217,438 (GRCm39) missense probably benign 0.01
R4244:Thnsl1 UTSW 2 21,217,059 (GRCm39) missense probably benign
R4245:Thnsl1 UTSW 2 21,217,059 (GRCm39) missense probably benign
R4510:Thnsl1 UTSW 2 21,217,236 (GRCm39) missense probably damaging 0.99
R4511:Thnsl1 UTSW 2 21,217,236 (GRCm39) missense probably damaging 0.99
R4678:Thnsl1 UTSW 2 21,216,352 (GRCm39) splice site probably null
R4753:Thnsl1 UTSW 2 21,218,175 (GRCm39) missense probably damaging 1.00
R4796:Thnsl1 UTSW 2 21,216,856 (GRCm39) nonsense probably null
R5584:Thnsl1 UTSW 2 21,218,223 (GRCm39) missense probably damaging 1.00
R5586:Thnsl1 UTSW 2 21,217,201 (GRCm39) nonsense probably null
R5682:Thnsl1 UTSW 2 21,216,879 (GRCm39) missense possibly damaging 0.69
R5718:Thnsl1 UTSW 2 21,216,811 (GRCm39) missense possibly damaging 0.54
R6159:Thnsl1 UTSW 2 21,217,016 (GRCm39) nonsense probably null
R6795:Thnsl1 UTSW 2 21,218,303 (GRCm39) nonsense probably null
R7084:Thnsl1 UTSW 2 21,217,141 (GRCm39) missense possibly damaging 0.69
R7153:Thnsl1 UTSW 2 21,217,764 (GRCm39) missense possibly damaging 0.64
R7243:Thnsl1 UTSW 2 21,217,658 (GRCm39) missense probably damaging 1.00
R7265:Thnsl1 UTSW 2 21,217,269 (GRCm39) missense probably damaging 1.00
R7481:Thnsl1 UTSW 2 21,216,599 (GRCm39) missense probably benign 0.00
R8005:Thnsl1 UTSW 2 21,216,755 (GRCm39) missense probably benign
R8223:Thnsl1 UTSW 2 21,216,924 (GRCm39) missense probably benign 0.45
R8331:Thnsl1 UTSW 2 21,216,985 (GRCm39) missense probably benign
R8548:Thnsl1 UTSW 2 21,217,733 (GRCm39) missense possibly damaging 0.75
R8798:Thnsl1 UTSW 2 21,217,209 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCATGATGCTAGCATGTGGC -3'
(R):5'- CTTCTCAGGAACAAAGAGGCC -3'

Sequencing Primer
(F):5'- GCATCTGAAGAAAAATGGAATTGTTG -3'
(R):5'- GAGGCCACCATCAGAAGC -3'
Posted On 2016-02-04