Incidental Mutation 'IGL01548:Thnsl1'
ID 93198
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thnsl1
Ensembl Gene ENSMUSG00000048550
Gene Name threonine synthase-like 1 (bacterial)
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL01548
Quality Score
Status
Chromosome 2
Chromosomal Location 21210535-21219820 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21217943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 45 (I45V)
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: I566V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052452
Gene: ENSMUSG00000048550
AA Change: I566V

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: I45V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100016
Gene: ENSMUSG00000048550
AA Change: I45V

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: I45V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100017
Gene: ENSMUSG00000048550
AA Change: I45V

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: I45V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115186
Gene: ENSMUSG00000048550
AA Change: I45V

DomainStartEndE-ValueType
PDB:1KL7|B 2 93 5e-16 PDB
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot3 C T 12: 84,103,863 (GRCm39) T224I probably benign Het
Adamts18 C T 8: 114,490,931 (GRCm39) G512E probably damaging Het
Atp4b A G 8: 13,439,679 (GRCm39) I181T probably damaging Het
Bcl11a A G 11: 24,113,346 (GRCm39) I230V probably benign Het
Cenpj C A 14: 56,769,776 (GRCm39) V1138L probably benign Het
Cep78 A G 19: 15,958,564 (GRCm39) probably benign Het
Clec2j T A 6: 128,632,941 (GRCm39) noncoding transcript Het
Col5a3 T C 9: 20,714,296 (GRCm39) probably benign Het
Cpne6 A T 14: 55,750,183 (GRCm39) T105S probably damaging Het
Csmd1 A T 8: 16,338,660 (GRCm39) Y482* probably null Het
Ctrl C A 8: 106,659,890 (GRCm39) probably benign Het
Dhcr24 T A 4: 106,431,068 (GRCm39) C252* probably null Het
Dnaaf9 T C 2: 130,656,179 (GRCm39) N110D probably damaging Het
Dnah17 G A 11: 117,989,438 (GRCm39) P1261S probably benign Het
Dnai2 T C 11: 114,643,768 (GRCm39) L466P probably damaging Het
Dync2h1 A T 9: 7,071,922 (GRCm39) F3036Y probably damaging Het
Eef1akmt2 A C 7: 132,433,134 (GRCm39) S191A probably damaging Het
Fat4 G A 3: 39,063,406 (GRCm39) C4454Y probably damaging Het
Fat4 T C 3: 38,941,907 (GRCm39) S267P probably damaging Het
Frrs1 T C 3: 116,678,834 (GRCm39) C219R probably damaging Het
Gabra6 T A 11: 42,207,850 (GRCm39) Q207L probably damaging Het
Gm19668 A T 10: 77,634,242 (GRCm39) C242* probably null Het
Gm2840 G A 5: 96,322,136 (GRCm39) noncoding transcript Het
Gmcl1p1 G A X: 3,078,226 (GRCm39) G423S probably benign Het
Golim4 C T 3: 75,815,432 (GRCm39) probably null Het
Gucy1b1 G T 3: 81,942,169 (GRCm39) T530K probably damaging Het
Hacl1 A T 14: 31,362,553 (GRCm39) D31E possibly damaging Het
Hectd4 A G 5: 121,502,723 (GRCm39) T4276A possibly damaging Het
Henmt1 T C 3: 108,850,095 (GRCm39) I26T probably damaging Het
Hspa1l G A 17: 35,197,367 (GRCm39) A469T probably damaging Het
Htra3 T A 5: 35,821,420 (GRCm39) probably null Het
Lrrc28 C A 7: 67,278,042 (GRCm39) probably null Het
Mfhas1 T C 8: 36,057,613 (GRCm39) L696P probably damaging Het
Mios A G 6: 8,234,252 (GRCm39) K808E possibly damaging Het
Mtnr1b A G 9: 15,774,496 (GRCm39) Y188H probably damaging Het
Myom1 A G 17: 71,408,215 (GRCm39) probably benign Het
Naca A T 10: 127,876,773 (GRCm39) probably benign Het
Nckap1l T A 15: 103,371,147 (GRCm39) V213D probably benign Het
Ndufa6 C T 15: 82,238,282 (GRCm39) V50M possibly damaging Het
Or4c35 T A 2: 89,808,883 (GRCm39) F254I possibly damaging Het
Or5b111 A G 19: 13,291,350 (GRCm39) F100L possibly damaging Het
Or5g23 A G 2: 85,439,105 (GRCm39) W50R probably benign Het
Or8b56 A G 9: 38,739,646 (GRCm39) T220A probably benign Het
Or8k53 T A 2: 86,178,077 (GRCm39) Y11F possibly damaging Het
Osbpl1a T C 18: 12,896,632 (GRCm39) Y311C probably damaging Het
Parp11 A C 6: 127,468,562 (GRCm39) Y204S probably damaging Het
Pla2g4a A G 1: 149,808,407 (GRCm39) probably null Het
Plec T C 15: 76,073,458 (GRCm39) R519G probably benign Het
Ppp2r5c T A 12: 110,534,261 (GRCm39) Y375N probably benign Het
Prss35 C A 9: 86,637,327 (GRCm39) S32R probably benign Het
Prss57 C T 10: 79,621,581 (GRCm39) probably benign Het
Ptprc A C 1: 138,027,219 (GRCm39) probably null Het
Rims1 A G 1: 22,577,683 (GRCm39) C188R probably damaging Het
Ripk4 G T 16: 97,552,696 (GRCm39) Y144* probably null Het
Rpgrip1 A T 14: 52,363,728 (GRCm39) probably benign Het
Rps6ka4 A G 19: 6,809,691 (GRCm39) V378A probably benign Het
Rtf1 A G 2: 119,542,589 (GRCm39) K298E probably benign Het
Sdk1 T C 5: 142,071,520 (GRCm39) F1237L possibly damaging Het
Slc40a1 T C 1: 45,948,652 (GRCm39) K543E probably benign Het
Slco1a8 A G 6: 141,938,238 (GRCm39) I227T possibly damaging Het
Sorcs3 A T 19: 48,782,607 (GRCm39) I1041F possibly damaging Het
Spata31e4 A G 13: 50,854,414 (GRCm39) T91A probably benign Het
Spata31f3 T C 4: 42,868,564 (GRCm39) E353G probably benign Het
Taok3 T C 5: 117,410,262 (GRCm39) M818T probably benign Het
Tas2r119 T A 15: 32,178,123 (GRCm39) F230I probably damaging Het
Tbc1d8 T C 1: 39,420,385 (GRCm39) D716G probably damaging Het
Tfg A G 16: 56,521,465 (GRCm39) S58P probably damaging Het
Tle1 A G 4: 72,088,955 (GRCm39) L96P probably damaging Het
Tmem260 A C 14: 48,717,782 (GRCm39) S276R possibly damaging Het
Utp20 A G 10: 88,600,643 (GRCm39) S24P probably damaging Het
Vcam1 T C 3: 115,909,600 (GRCm39) I576V probably benign Het
Vmn1r27 G T 6: 58,192,538 (GRCm39) N105K probably benign Het
Vmn2r12 A C 5: 109,240,893 (GRCm39) Y73* probably null Het
Vmn2r86 T C 10: 130,282,151 (GRCm39) I822V probably benign Het
Wdr6 C T 9: 108,452,096 (GRCm39) V596I possibly damaging Het
Zfp946 A T 17: 22,673,643 (GRCm39) K132N 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
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
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
Posted On 2013-12-09