Incidental Mutation 'R1119:Thnsl1'
ID 97677
Institutional Source Beutler Lab
Gene Symbol Thnsl1
Ensembl Gene ENSMUSG00000048550
Gene Name threonine synthase-like 1 (bacterial)
Synonyms
MMRRC Submission 039192-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R1119 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 21210535-21219820 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21217857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 16 (N16S)
Ref Sequence ENSEMBL: ENSMUSP00000115186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054591] [ENSMUST00000102951] [ENSMUST00000102952] [ENSMUST00000138914] [ENSMUST00000138965]
AlphaFold Q8BH55
Predicted Effect probably damaging
Transcript: ENSMUST00000054591
AA Change: N537S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052452
Gene: ENSMUSG00000048550
AA Change: N537S

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 damaging
Transcript: ENSMUST00000102951
AA Change: N16S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100016
Gene: ENSMUSG00000048550
AA Change: N16S

DomainStartEndE-ValueType
PDB:1KL7|B 2 158 2e-27 PDB
SCOP:d1kl7a_ 2 214 7e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102952
AA Change: N16S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100017
Gene: ENSMUSG00000048550
AA Change: N16S

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 damaging
Transcript: ENSMUST00000138965
AA Change: N16S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115186
Gene: ENSMUSG00000048550
AA Change: N16S

DomainStartEndE-ValueType
PDB:1KL7|B 2 93 5e-16 PDB
Meta Mutation Damage Score 0.8788 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 A C 7: 82,189,525 (GRCm39) E583A probably damaging Het
Aoah T A 13: 21,099,108 (GRCm39) probably benign Het
Atf7ip2 A G 16: 10,058,476 (GRCm39) K305R possibly damaging Het
Bltp1 T G 3: 37,041,194 (GRCm39) V2524G probably damaging Het
Cd200r2 A G 16: 44,729,969 (GRCm39) N171S probably damaging Het
Cfap57 G A 4: 118,463,873 (GRCm39) Q327* probably null Het
Ckap2l A T 2: 129,114,492 (GRCm39) probably benign Het
Cul2 A G 18: 3,419,335 (GRCm39) probably benign Het
Ddx60 G A 8: 62,395,578 (GRCm39) V172M probably damaging Het
Drp2 T C X: 133,342,071 (GRCm39) L545P probably damaging Het
Ezh1 A G 11: 101,101,361 (GRCm39) probably benign Het
Gipc2 A G 3: 151,799,833 (GRCm39) F299S probably damaging Het
Gsk3b T C 16: 38,028,346 (GRCm39) probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hikeshi A G 7: 89,584,938 (GRCm39) S89P probably benign Het
Hmcn1 C T 1: 150,494,679 (GRCm39) A4137T possibly damaging Het
Itprid1 T C 6: 55,866,155 (GRCm39) F183L probably damaging Het
Larp1b C A 3: 40,987,963 (GRCm39) R62S possibly damaging Het
Lgr5 A T 10: 115,296,716 (GRCm39) probably null Het
Lpin1 C A 12: 16,613,722 (GRCm39) D449Y probably damaging Het
Macrod2 A T 2: 140,242,826 (GRCm39) I31L probably benign Het
Meig1 T C 2: 3,410,311 (GRCm39) D63G probably damaging Het
Ndufa9 A T 6: 126,799,031 (GRCm39) L362Q probably damaging Het
Nlrp9c A T 7: 26,083,862 (GRCm39) D572E probably benign Het
Nxpe5 G A 5: 138,237,658 (GRCm39) D61N probably benign Het
Ogdh T A 11: 6,290,544 (GRCm39) H376Q probably damaging Het
P4ha3 T C 7: 99,962,535 (GRCm39) I431T probably damaging Het
Pcdhb14 G A 18: 37,581,640 (GRCm39) V249M probably damaging Het
Pcnp A G 16: 55,844,754 (GRCm39) S49P probably damaging Het
Pik3r6 C T 11: 68,436,698 (GRCm39) T654I probably benign Het
Rptn A G 3: 93,303,552 (GRCm39) Y295C possibly damaging Het
Sec16b A G 1: 157,392,404 (GRCm39) D924G possibly damaging Het
Setd1b C A 5: 123,285,779 (GRCm39) T275K unknown Het
Sgcb T A 5: 73,801,757 (GRCm39) K36I probably damaging Het
Smg7 A T 1: 152,742,326 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Stab2 T C 10: 86,695,619 (GRCm39) D599G possibly damaging Het
Stk36 A G 1: 74,671,925 (GRCm39) E875G probably benign Het
Tagln3 C A 16: 45,544,635 (GRCm39) R12L probably damaging Het
Tax1bp1 C A 6: 52,718,933 (GRCm39) probably benign Het
Ticrr C T 7: 79,343,701 (GRCm39) P1189S probably benign Het
Tnxb G A 17: 34,904,017 (GRCm39) V1053M probably damaging Het
Tpp2 T C 1: 44,031,556 (GRCm39) probably null Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Vmn2r60 A T 7: 41,844,365 (GRCm39) Q576L possibly damaging Het
Zfp62 G T 11: 49,107,517 (GRCm39) R536L probably damaging Het
Zfp958 A T 8: 4,676,169 (GRCm39) N46Y possibly damaging 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
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
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'- ATCATGCCTCTGCATACCTTGAGC -3'
(R):5'- TGTGGATGCAATGAGCACTGGG -3'

Sequencing Primer
(F):5'- ACCTTGAGCTTGTTAACCAACG -3'
(R):5'- GAAGCTGACTCTCTAACTGATGG -3'
Posted On 2014-01-05