Incidental Mutation 'IGL01476:Thnsl1'
ID88464
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thnsl1
Ensembl Gene ENSMUSG00000048550
Gene Namethreonine synthase-like 1 (bacterial)
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #IGL01476
Quality Score
Status
Chromosome2
Chromosomal Location21205724-21215009 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 21212159 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 241 (D241E)
Ref Sequence ENSEMBL: ENSMUSP00000052452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054591] [ENSMUST00000102951] [ENSMUST00000102952] [ENSMUST00000138914] [ENSMUST00000138965]
Predicted Effect probably benign
Transcript: ENSMUST00000054591
AA Change: D241E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000052452
Gene: ENSMUSG00000048550
AA Change: D241E

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Abcc10 A G 17: 46,327,937 probably benign Het
Atp13a2 G A 4: 141,000,770 C558Y probably damaging Het
BC017643 T C 11: 121,225,845 Y86C probably damaging Het
Btbd1 G A 7: 81,801,049 R328* probably null Het
Cdk8 A G 5: 146,295,163 probably null Het
Chd8 A T 14: 52,205,490 N534K probably benign Het
Dlgap2 C T 8: 14,778,301 R570* probably null Het
Eri2 A C 7: 119,790,249 F149V probably damaging Het
Esyt1 A G 10: 128,511,494 M1054T probably damaging Het
Gcm2 A G 13: 41,105,741 V84A probably damaging Het
Gm597 A T 1: 28,777,453 H499Q probably benign Het
Got1 A C 19: 43,524,409 V16G probably damaging Het
Itga9 C T 9: 118,607,111 R62C probably damaging Het
Kif21a T C 15: 90,943,864 R1232G possibly damaging Het
Map1a A G 2: 121,305,207 Y1930C probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr384 T C 11: 73,603,230 S217P probably damaging Het
Olfr701 G A 7: 106,818,620 C179Y probably damaging Het
Pclo A G 5: 14,521,108 K169R probably damaging Het
Rnf169 A C 7: 99,955,484 Y174D probably damaging Het
Sarm1 T C 11: 78,490,811 E282G probably damaging Het
Sec24a A G 11: 51,708,956 S840P possibly damaging Het
Skor2 A T 18: 76,858,667 Q28L unknown Het
Slc35f2 T C 9: 53,806,706 V168A possibly damaging Het
Slc6a7 A T 18: 61,005,773 L221Q probably damaging Het
Syt4 A T 18: 31,441,643 V307E probably damaging Het
Tasp1 A G 2: 140,008,773 L110S probably benign Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tpbpb A T 13: 60,902,134 D60E probably benign Het
Trip11 T C 12: 101,898,911 I168V probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Wscd2 A G 5: 113,572,321 D302G probably damaging Het
Other mutations in Thnsl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Thnsl1 APN 2 21212449 missense possibly damaging 0.47
IGL00756:Thnsl1 APN 2 21212612 missense probably benign 0.02
IGL00952:Thnsl1 APN 2 21211956 missense possibly damaging 0.89
IGL01020:Thnsl1 APN 2 21212494 missense probably damaging 0.99
IGL01350:Thnsl1 APN 2 21212200 missense probably benign 0.30
IGL01548:Thnsl1 APN 2 21213132 missense probably damaging 1.00
IGL01916:Thnsl1 APN 2 21212665 missense possibly damaging 0.66
IGL02176:Thnsl1 APN 2 21211854 missense possibly damaging 0.69
IGL03001:Thnsl1 APN 2 21211644 missense probably damaging 0.99
IGL03219:Thnsl1 APN 2 21212406 missense probably benign 0.14
IGL03386:Thnsl1 APN 2 21211548 missense probably benign 0.01
R0684:Thnsl1 UTSW 2 21211666 missense probably benign 0.02
R0738:Thnsl1 UTSW 2 21213362 missense probably damaging 1.00
R1119:Thnsl1 UTSW 2 21213046 missense probably damaging 1.00
R1121:Thnsl1 UTSW 2 21212164 missense probably benign 0.00
R2150:Thnsl1 UTSW 2 21212533 missense probably benign 0.08
R3545:Thnsl1 UTSW 2 21212627 missense probably benign 0.01
R3547:Thnsl1 UTSW 2 21212627 missense probably benign 0.01
R4244:Thnsl1 UTSW 2 21212248 missense probably benign
R4245:Thnsl1 UTSW 2 21212248 missense probably benign
R4510:Thnsl1 UTSW 2 21212425 missense probably damaging 0.99
R4511:Thnsl1 UTSW 2 21212425 missense probably damaging 0.99
R4678:Thnsl1 UTSW 2 21211541 splice site probably null
R4753:Thnsl1 UTSW 2 21213364 missense probably damaging 1.00
R4795:Thnsl1 UTSW 2 21212045 nonsense probably null
R4796:Thnsl1 UTSW 2 21212045 nonsense probably null
R5584:Thnsl1 UTSW 2 21213412 missense probably damaging 1.00
R5586:Thnsl1 UTSW 2 21212390 nonsense probably null
R5682:Thnsl1 UTSW 2 21212068 missense possibly damaging 0.69
R5718:Thnsl1 UTSW 2 21212000 missense possibly damaging 0.54
R6159:Thnsl1 UTSW 2 21212205 nonsense probably null
R6795:Thnsl1 UTSW 2 21213492 nonsense probably null
R7084:Thnsl1 UTSW 2 21212330 missense possibly damaging 0.69
R7153:Thnsl1 UTSW 2 21212953 missense possibly damaging 0.64
R7243:Thnsl1 UTSW 2 21212847 missense probably damaging 1.00
R7265:Thnsl1 UTSW 2 21212458 missense probably damaging 1.00
Posted On2013-11-18