Incidental Mutation 'IGL02409:Tbc1d2b'
ID292232
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d2b
Ensembl Gene ENSMUSG00000037410
Gene NameTBC1 domain family, member 2B
Synonyms1810061M12Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02409
Quality Score
Status
Chromosome9
Chromosomal Location90202027-90270804 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 90222352 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 579 (S579N)
Ref Sequence ENSEMBL: ENSMUSP00000045413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041767]
Predicted Effect probably benign
Transcript: ENSMUST00000041767
AA Change: S579N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410
AA Change: S579N

DomainStartEndE-ValueType
PH 35 141 2.66e-9 SMART
low complexity region 324 334 N/A INTRINSIC
low complexity region 343 356 N/A INTRINSIC
Blast:TBC 358 601 2e-25 BLAST
TBC 661 881 3.75e-60 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120385
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp4 T A 18: 15,399,725 M104L probably benign Het
Cdkn1a T C 17: 29,098,454 V16A probably benign Het
Celsr2 C A 3: 108,413,955 V514F probably damaging Het
Cmya5 T C 13: 93,090,198 N2794S probably damaging Het
Dnmt1 T C 9: 20,926,497 T281A probably benign Het
Dock2 A T 11: 34,501,204 N840K probably benign Het
Dscam T C 16: 96,819,888 N540S possibly damaging Het
Elavl1 A T 8: 4,289,838 I248N possibly damaging Het
Fam120a A G 13: 48,967,359 V157A probably benign Het
Fcrls G A 3: 87,252,723 P408L probably benign Het
Gpr1 T A 1: 63,183,716 N120I probably damaging Het
Grin2b T A 6: 136,043,908 M132L possibly damaging Het
Herc2 T A 7: 56,220,469 probably null Het
Lrp1b T G 2: 41,445,196 K778T possibly damaging Het
Mapk10 T A 5: 102,928,230 E389D possibly damaging Het
Ms4a7 G T 19: 11,324,443 Y62* probably null Het
Muc5b A G 7: 141,861,338 T2674A possibly damaging Het
Nbeal1 T C 1: 60,329,335 L2613P probably benign Het
Ncapg2 A T 12: 116,420,717 Y266F probably damaging Het
Olfr1215 C T 2: 89,001,910 C126Y possibly damaging Het
Olfr127 T C 17: 37,903,788 Y81H probably damaging Het
Olfr342 T A 2: 36,528,153 V247E probably damaging Het
Olfr512 A G 7: 108,714,159 I269V probably benign Het
Pkd1 T A 17: 24,573,623 I1428N probably benign Het
Ppil4 T C 10: 7,798,564 probably benign Het
Rev3l T C 10: 39,821,148 V547A possibly damaging Het
Rgsl1 T C 1: 153,826,243 K155R possibly damaging Het
Skap2 T C 6: 51,907,958 D234G possibly damaging Het
Sult2a4 C T 7: 13,984,919 W133* probably null Het
Tdrkh T A 3: 94,430,612 probably benign Het
Thumpd2 A T 17: 81,032,688 F377L probably damaging Het
Tmem132d T C 5: 127,784,888 D723G probably damaging Het
Tnfrsf23 A T 7: 143,668,571 L168Q probably damaging Het
Ttn T C 2: 76,954,630 T818A unknown Het
Uox A T 3: 146,624,626 D130V probably benign Het
Vmn2r45 T C 7: 8,485,728 Y101C probably benign Het
Wdr1 C T 5: 38,531,110 D161N probably benign Het
Other mutations in Tbc1d2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Tbc1d2b APN 9 90226209 missense probably benign
IGL00791:Tbc1d2b APN 9 90227428 missense probably benign 0.18
IGL01457:Tbc1d2b APN 9 90205091 missense probably damaging 1.00
IGL01535:Tbc1d2b APN 9 90215473 splice site probably benign
IGL02089:Tbc1d2b APN 9 90222359 missense possibly damaging 0.80
IGL02799:Tbc1d2b APN 9 90223434 splice site probably benign
IGL03198:Tbc1d2b APN 9 90222457 missense probably damaging 1.00
Leone UTSW 9 90207887 missense probably damaging 1.00
panthera UTSW 9 90226248 missense probably benign
pardo UTSW 9 90219144 missense probably benign 0.13
pardus UTSW 9 90219010 nonsense probably null
roar UTSW 9 90218922 nonsense probably null
R0062:Tbc1d2b UTSW 9 90222302 splice site probably benign
R0062:Tbc1d2b UTSW 9 90222302 splice site probably benign
R0671:Tbc1d2b UTSW 9 90222505 splice site probably benign
R0682:Tbc1d2b UTSW 9 90249862 missense probably benign 0.01
R1074:Tbc1d2b UTSW 9 90222340 missense possibly damaging 0.68
R1075:Tbc1d2b UTSW 9 90222340 missense possibly damaging 0.68
R1140:Tbc1d2b UTSW 9 90226376 missense possibly damaging 0.91
R1892:Tbc1d2b UTSW 9 90218943 missense probably damaging 0.98
R4064:Tbc1d2b UTSW 9 90218922 nonsense probably null
R4541:Tbc1d2b UTSW 9 90205169 missense probably damaging 1.00
R4590:Tbc1d2b UTSW 9 90270500 missense possibly damaging 0.81
R4651:Tbc1d2b UTSW 9 90207887 missense probably damaging 1.00
R4652:Tbc1d2b UTSW 9 90207887 missense probably damaging 1.00
R4971:Tbc1d2b UTSW 9 90218870 missense probably benign 0.00
R5086:Tbc1d2b UTSW 9 90227457 missense probably benign
R5131:Tbc1d2b UTSW 9 90209759 missense probably damaging 1.00
R5205:Tbc1d2b UTSW 9 90207810 missense probably damaging 1.00
R5502:Tbc1d2b UTSW 9 90227443 missense probably benign
R5509:Tbc1d2b UTSW 9 90218969 missense probably damaging 1.00
R5534:Tbc1d2b UTSW 9 90227506 missense possibly damaging 0.89
R5729:Tbc1d2b UTSW 9 90207872 missense probably benign 0.22
R5735:Tbc1d2b UTSW 9 90222409 missense possibly damaging 0.71
R5847:Tbc1d2b UTSW 9 90209724 missense probably damaging 1.00
R5928:Tbc1d2b UTSW 9 90219144 missense probably benign 0.13
R6595:Tbc1d2b UTSW 9 90226092 missense probably benign 0.02
R6766:Tbc1d2b UTSW 9 90226209 missense probably benign
R7563:Tbc1d2b UTSW 9 90219010 nonsense probably null
R7563:Tbc1d2b UTSW 9 90226248 missense probably benign
X0066:Tbc1d2b UTSW 9 90218658 critical splice donor site probably null
Posted On2015-04-16