Incidental Mutation 'R7481:Thnsl1'
ID 579779
Institutional Source Beutler Lab
Gene Symbol Thnsl1
Ensembl Gene ENSMUSG00000048550
Gene Name threonine synthase-like 1 (bacterial)
Synonyms
MMRRC Submission 045555-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R7481 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 21210535-21219820 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21216599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 118 (T118S)
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: T118S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000052452
Gene: ENSMUSG00000048550
AA Change: T118S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,494,575 (GRCm39) F68S unknown Het
Abcb6 A G 1: 75,150,248 (GRCm39) F637L probably damaging Het
Aldh3b3 A G 19: 4,014,549 (GRCm39) M95V probably benign Het
Arhgap45 A T 10: 79,858,134 (GRCm39) H387L possibly damaging Het
Avil C T 10: 126,843,460 (GRCm39) T130I probably benign Het
Bmal2 G A 6: 146,720,369 (GRCm39) A178T not run Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C3 C A 17: 57,527,136 (GRCm39) W771L probably damaging Het
C6 A G 15: 4,844,357 (GRCm39) I926M Het
Cacna1b G A 2: 24,506,874 (GRCm39) L1903F probably damaging Het
Car3 A T 3: 14,928,632 (GRCm39) M1L probably benign Het
Ccdc175 A G 12: 72,202,398 (GRCm39) I299T probably benign Het
Chd9 C T 8: 91,683,066 (GRCm39) T502I unknown Het
Clec4a1 G A 6: 122,904,998 (GRCm39) C99Y probably damaging Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Dmbt1 A T 7: 130,681,241 (GRCm39) probably null Het
Dop1a A T 9: 86,417,985 (GRCm39) K1951N probably damaging Het
Dpf3 A C 12: 83,378,701 (GRCm39) L122R probably damaging Het
Edem3 A T 1: 151,683,973 (GRCm39) S687C probably damaging Het
Edem3 G A 1: 151,683,974 (GRCm39) S687N possibly damaging Het
Fig4 A G 10: 41,106,001 (GRCm39) probably null Het
Fmnl2 A G 2: 52,998,443 (GRCm39) T603A unknown Het
Frmd6 T A 12: 70,933,829 (GRCm39) L249Q probably damaging Het
Glrx3 T C 7: 137,046,751 (GRCm39) C48R probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gm6133 A T 18: 78,393,008 (GRCm39) M1L probably benign Het
Gm9195 G A 14: 72,720,116 (GRCm39) T105I probably benign Het
Hk2 G A 6: 82,737,150 (GRCm39) T54I probably benign Het
Jade1 G A 3: 41,559,125 (GRCm39) G402D probably benign Het
Kmt2a T C 9: 44,720,368 (GRCm39) D3873G unknown Het
Map6 A T 7: 98,918,345 (GRCm39) T373S possibly damaging Het
Megf9 T C 4: 70,351,679 (GRCm39) T481A probably damaging Het
Mtcl3 G T 10: 29,072,519 (GRCm39) V604L probably damaging Het
Mtus1 T A 8: 41,537,652 (GRCm39) K21N probably damaging Het
Muc5b C T 7: 141,414,908 (GRCm39) T2618I unknown Het
Nbas A G 12: 13,406,960 (GRCm39) I852M probably damaging Het
Or14j1 T A 17: 38,146,289 (GRCm39) M133K probably damaging Het
Or4a70 C T 2: 89,324,636 (GRCm39) V7I probably benign Het
Or5b121 A T 19: 13,507,817 (GRCm39) Q304L probably damaging Het
Or5d39 A G 2: 87,980,105 (GRCm39) I86T probably benign Het
Pank4 A G 4: 155,054,495 (GRCm39) N156S probably damaging Het
Pcdhga8 A G 18: 37,860,990 (GRCm39) E682G probably benign Het
Pde10a C A 17: 9,168,262 (GRCm39) D312E possibly damaging Het
Pkhd1l1 A G 15: 44,376,307 (GRCm39) T990A probably benign Het
Rab11fip1 T C 8: 27,646,609 (GRCm39) T156A probably damaging Het
Rhbdd2 T A 5: 135,665,031 (GRCm39) S121T possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Ryr3 C A 2: 112,508,438 (GRCm39) R3418S probably benign Het
Ryr3 C A 2: 112,508,439 (GRCm39) R3418M possibly damaging Het
Sbno2 G A 10: 79,893,333 (GRCm39) P1323S probably benign Het
Sec24d T C 3: 123,144,412 (GRCm39) C630R probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Skp2 A T 15: 9,113,905 (GRCm39) V371E probably damaging Het
Strbp A T 2: 37,490,766 (GRCm39) S496R probably benign Het
Stxbp4 G A 11: 90,485,639 (GRCm39) T236I possibly damaging Het
Terf2 C T 8: 107,799,353 (GRCm39) probably null Het
Tlnrd1 A T 7: 83,531,546 (GRCm39) V295E probably damaging Het
Ttll6 A G 11: 96,045,672 (GRCm39) T630A probably benign Het
Usp9y G T Y: 1,432,180 (GRCm39) A435E probably benign Het
Vil1 A C 1: 74,459,058 (GRCm39) R187S probably damaging Het
Vmn2r31 A T 7: 7,387,579 (GRCm39) V664E possibly damaging Het
Wdr17 T C 8: 55,114,371 (GRCm39) I693M probably benign Het
Wdr82 C T 9: 106,053,865 (GRCm39) T72I probably damaging Het
Zbtb5 A G 4: 44,994,905 (GRCm39) S160P probably benign Het
Zfat G A 15: 68,050,715 (GRCm39) Q769* probably null Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp937 T A 2: 150,081,266 (GRCm39) I432K probably benign Het
Zglp1 C T 9: 20,973,903 (GRCm39) S261N 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
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
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'- AATATTGTCCTGATGGGGCCG -3'
(R):5'- TTACGTGCTTCAGCGAGTC -3'

Sequencing Primer
(F):5'- CGCCTGGTTCTGGGAAAACAAC -3'
(R):5'- CTTCAGCGAGTCTCTCAGAGATG -3'
Posted On 2019-10-07