Incidental Mutation 'R3545:Thnsl1'
ID 268155
Institutional Source Beutler Lab
Gene Symbol Thnsl1
Ensembl Gene ENSMUSG00000048550
Gene Name threonine synthase-like 1 (bacterial)
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R3545 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 21210535-21219820 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 21217438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 397 (D397E)
Ref Sequence ENSEMBL: ENSMUSP00000052452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054591] [ENSMUST00000102951] [ENSMUST00000102952] [ENSMUST00000138914] [ENSMUST00000138965]
AlphaFold Q8BH55
Predicted Effect probably benign
Transcript: ENSMUST00000054591
AA Change: D397E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000052452
Gene: ENSMUSG00000048550
AA Change: D397E

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 0.3742 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 A G 14: 31,437,217 (GRCm39) L646S probably benign Het
Clip1 A G 5: 123,769,141 (GRCm39) L532P probably damaging Het
Efl1 A T 7: 82,412,018 (GRCm39) E802D probably benign Het
F11r T C 1: 171,288,829 (GRCm39) V149A probably damaging Het
Fhit T C 14: 9,870,095 (GRCm38) T125A probably benign Het
Fmn2 A G 1: 174,330,192 (GRCm39) D194G unknown Het
Gdi1 T A X: 73,351,414 (GRCm39) F175L possibly damaging Het
Herc3 T C 6: 58,833,670 (GRCm39) S186P probably damaging Het
Hexa A G 9: 59,464,581 (GRCm39) N157S probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Lig1 T A 7: 13,026,089 (GRCm39) N281K possibly damaging Het
Lrp1b A T 2: 40,490,300 (GRCm39) L287H probably damaging Het
Mcf2 T C X: 59,180,806 (GRCm39) K74R probably damaging Het
Nat1 A G 8: 67,943,684 (GRCm39) D23G possibly damaging Het
Nbeal1 T C 1: 60,317,939 (GRCm39) F1959L probably damaging Het
Ncf1 T A 5: 134,255,463 (GRCm39) K143* probably null Het
Nid2 T A 14: 19,813,779 (GRCm39) Y195N probably damaging Het
Nlrp9a T C 7: 26,256,757 (GRCm39) I125T probably benign Het
Nme7 T C 1: 164,213,351 (GRCm39) F343S probably damaging Het
Otud4 A G 8: 80,391,684 (GRCm39) E443G probably damaging Het
Palld G T 8: 62,003,112 (GRCm39) A329E possibly damaging Het
Pask A T 1: 93,244,837 (GRCm39) V1095D probably damaging Het
Pdzd2 C T 15: 12,375,557 (GRCm39) R1526Q probably benign Het
Prkcq A G 2: 11,288,627 (GRCm39) K527E probably benign Het
Ramac T A 7: 81,418,270 (GRCm39) probably null Het
Reln A G 5: 22,432,598 (GRCm39) V134A possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Septin9 T C 11: 117,243,499 (GRCm39) I350T probably damaging Het
Slc16a7 T A 10: 125,130,569 (GRCm39) K39* probably null Het
Spata32 T C 11: 103,101,570 (GRCm39) E21G possibly damaging Het
Tbc1d1 G A 5: 64,443,350 (GRCm39) R523Q probably damaging Het
Tubal3 T G 13: 3,983,560 (GRCm39) *447G probably null Het
Uprt T A X: 103,526,934 (GRCm39) L123H probably damaging Het
Usp9x T C X: 12,994,629 (GRCm39) L940P probably benign 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
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
R4795:Thnsl1 UTSW 2 21,216,856 (GRCm39) nonsense probably null
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'- GCACCTTTCTGGCAATCAGTTC -3'
(R):5'- GATTGTTCCATATTCCACAGCC -3'

Sequencing Primer
(F):5'- CTGGCAATCAGTTCATCTTGGAG -3'
(R):5'- TTGTTCCATATTCCACAGCCAGAAAG -3'
Posted On 2015-02-19