Incidental Mutation 'IGL00845:Tbc1d21'
ID14382
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d21
Ensembl Gene ENSMUSG00000036244
Gene NameTBC1 domain family, member 21
Synonyms1700095K08Rik, MgcRabGAP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.125) question?
Stock #IGL00845
Quality Score
Status
Chromosome9
Chromosomal Location58359704-58370455 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 58362462 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 198 (V198I)
Ref Sequence ENSEMBL: ENSMUSP00000150275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040217] [ENSMUST00000213847]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040217
AA Change: V198I

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000037525
Gene: ENSMUSG00000036244
AA Change: V198I

DomainStartEndE-ValueType
TBC 54 291 1.76e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000213847
AA Change: V198I

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,223,951 probably benign Het
Dnah8 T A 17: 30,819,276 probably null Het
Hmcn1 G A 1: 150,605,006 S4473F probably damaging Het
Mcf2 T A X: 60,127,086 D429V probably damaging Het
Myo15 A G 11: 60,477,779 D455G probably damaging Het
Myom1 T C 17: 71,084,429 Y978H probably damaging Het
Naglu A G 11: 101,076,952 E576G possibly damaging Het
Rbm20 T C 19: 53,817,949 Y487H probably damaging Het
Slc12a1 T A 2: 125,188,238 C577S probably damaging Het
Slc34a2 T C 5: 53,058,354 probably benign Het
Sulf1 C T 1: 12,796,967 T125I probably damaging Het
Tcp11l2 T C 10: 84,604,983 V351A possibly damaging Het
Tdrd6 T C 17: 43,626,716 D1147G probably benign Het
Tmem185a A T X: 70,462,317 probably null Het
Vps50 C T 6: 3,532,177 Q227* probably null Het
Zfp599 T A 9: 22,251,518 probably benign Het
Zmym4 A G 4: 126,900,613 V908A probably benign Het
Other mutations in Tbc1d21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02118:Tbc1d21 APN 9 58360463 missense probably benign 0.00
IGL02651:Tbc1d21 APN 9 58363101 nonsense probably null
R0693:Tbc1d21 UTSW 9 58361287 missense probably damaging 1.00
R0730:Tbc1d21 UTSW 9 58359877 missense probably benign 0.00
R1454:Tbc1d21 UTSW 9 58362813 critical splice donor site probably null
R1776:Tbc1d21 UTSW 9 58366728 splice site probably benign
R2230:Tbc1d21 UTSW 9 58363080 missense probably damaging 1.00
R2512:Tbc1d21 UTSW 9 58362912 missense probably damaging 1.00
R3052:Tbc1d21 UTSW 9 58363069 missense probably damaging 1.00
R3053:Tbc1d21 UTSW 9 58363069 missense probably damaging 1.00
R6348:Tbc1d21 UTSW 9 58361218 missense probably benign
R6805:Tbc1d21 UTSW 9 58361288 missense possibly damaging 0.91
R7032:Tbc1d21 UTSW 9 58366851 critical splice donor site probably null
R7153:Tbc1d21 UTSW 9 58363093 missense probably damaging 1.00
R7640:Tbc1d21 UTSW 9 58361261 missense probably damaging 1.00
R7753:Tbc1d21 UTSW 9 58362023 critical splice donor site probably null
Posted On2012-12-06