Incidental Mutation 'IGL02456:Tbc1d16'
ID 294181
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d16
Ensembl Gene ENSMUSG00000039976
Gene Name TBC1 domain family, member 16
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02456
Quality Score
Status
Chromosome 11
Chromosomal Location 119033871-119119325 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 119101372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 46 (H46P)
Ref Sequence ENSEMBL: ENSMUSP00000147182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036113] [ENSMUST00000125856] [ENSMUST00000207655]
AlphaFold A2ABG4
Predicted Effect probably damaging
Transcript: ENSMUST00000036113
AA Change: H46P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048516
Gene: ENSMUSG00000039976
AA Change: H46P

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
Blast:TBC 63 362 5e-75 BLAST
Blast:TBC 373 418 2e-13 BLAST
TBC 421 659 4.39e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125856
Predicted Effect probably damaging
Transcript: ENSMUST00000207655
AA Change: H46P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 126,302,584 (GRCm39) Y174* probably null Het
Apc C A 18: 34,446,935 (GRCm39) S1243* probably null Het
Atp8b5 A G 4: 43,365,578 (GRCm39) T731A probably benign Het
Bcl2a1c T A 9: 114,159,458 (GRCm39) F79I probably damaging Het
Brip1 G T 11: 85,955,925 (GRCm39) L863I possibly damaging Het
Cbx4 T A 11: 118,972,938 (GRCm39) K146* probably null Het
Ces1a C T 8: 93,766,126 (GRCm39) V163I possibly damaging Het
Ces5a C T 8: 94,255,272 (GRCm39) probably benign Het
Cfhr1 A C 1: 139,484,131 (GRCm39) N128K possibly damaging Het
Clcn3 T C 8: 61,394,391 (GRCm39) D46G probably damaging Het
Cntnap1 T G 11: 101,068,955 (GRCm39) I166S probably benign Het
Cntnap3 A T 13: 64,946,872 (GRCm39) probably benign Het
Cntnap5c T A 17: 58,714,739 (GRCm39) probably benign Het
Ddx23 A T 15: 98,545,430 (GRCm39) V626E probably damaging Het
Dele1 T A 18: 38,394,177 (GRCm39) L458Q probably damaging Het
Gcm2 T C 13: 41,256,477 (GRCm39) Y424C probably benign Het
Gm9964 A G 11: 79,187,196 (GRCm39) F84L probably damaging Het
Grn T A 11: 102,326,930 (GRCm39) D509E probably benign Het
Iho1 G T 9: 108,283,820 (GRCm39) T208K probably benign Het
Kdm5c G A X: 151,029,314 (GRCm39) D343N probably damaging Het
Ly75 C T 2: 60,124,125 (GRCm39) M1717I probably benign Het
Map1a C A 2: 121,129,134 (GRCm39) P133T probably damaging Het
Mpp2 C A 11: 101,950,199 (GRCm39) A552S possibly damaging Het
Mtr T C 13: 12,213,980 (GRCm39) I897M probably damaging Het
Npas3 A T 12: 54,095,550 (GRCm39) I337F probably damaging Het
Nup85 T C 11: 115,472,691 (GRCm39) probably benign Het
Or10a49 A G 7: 108,468,257 (GRCm39) Y35H probably benign Het
Or10al2 T A 17: 37,983,340 (GRCm39) M142K possibly damaging Het
Or2t46 T A 11: 58,472,024 (GRCm39) L118H possibly damaging Het
Or51l4 T A 7: 103,404,700 (GRCm39) I31F possibly damaging Het
Or56a5 T C 7: 104,792,966 (GRCm39) N178S probably damaging Het
Pdia4 A T 6: 47,780,429 (GRCm39) D301E probably benign Het
Phf2 C A 13: 48,982,322 (GRCm39) G134C unknown Het
Polr2h T A 16: 20,539,352 (GRCm39) L76H probably damaging Het
Rbm47 G A 5: 66,184,364 (GRCm39) R80C probably damaging Het
Sfmbt1 T C 14: 30,507,837 (GRCm39) S286P probably damaging Het
Slc5a12 T C 2: 110,447,179 (GRCm39) probably benign Het
Tacc2 T C 7: 130,227,991 (GRCm39) S1559P probably benign Het
Tbck A G 3: 132,440,475 (GRCm39) probably benign Het
Tmtc4 A T 14: 123,163,374 (GRCm39) probably null Het
Ttc13 T C 8: 125,417,100 (GRCm39) probably null Het
Ttc17 T C 2: 94,193,130 (GRCm39) probably benign Het
Vmn1r121 T A 7: 20,832,438 (GRCm39) M1L possibly damaging Het
Vps13c T C 9: 67,860,258 (GRCm39) S2825P probably damaging Het
Zan A C 5: 137,445,106 (GRCm39) S1718A unknown Het
Zfp39 G T 11: 58,793,626 (GRCm39) Y37* probably null Het
Zfp407 T C 18: 84,576,766 (GRCm39) N1449S probably damaging Het
Zhx2 C A 15: 57,687,035 (GRCm39) D801E possibly damaging Het
Other mutations in Tbc1d16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01930:Tbc1d16 APN 11 119,046,901 (GRCm39) missense possibly damaging 0.69
IGL01973:Tbc1d16 APN 11 119,047,533 (GRCm39) missense probably benign 0.19
H8441:Tbc1d16 UTSW 11 119,039,840 (GRCm39) nonsense probably null
R0118:Tbc1d16 UTSW 11 119,048,642 (GRCm39) missense probably damaging 1.00
R0255:Tbc1d16 UTSW 11 119,038,401 (GRCm39) missense possibly damaging 0.94
R0330:Tbc1d16 UTSW 11 119,049,555 (GRCm39) critical splice donor site probably null
R0620:Tbc1d16 UTSW 11 119,099,864 (GRCm39) missense probably benign 0.04
R1502:Tbc1d16 UTSW 11 119,044,830 (GRCm39) missense probably damaging 1.00
R1806:Tbc1d16 UTSW 11 119,046,927 (GRCm39) missense probably damaging 1.00
R2163:Tbc1d16 UTSW 11 119,045,904 (GRCm39) splice site probably benign
R2897:Tbc1d16 UTSW 11 119,048,654 (GRCm39) missense probably damaging 0.97
R2898:Tbc1d16 UTSW 11 119,048,654 (GRCm39) missense probably damaging 0.97
R4454:Tbc1d16 UTSW 11 119,048,699 (GRCm39) missense possibly damaging 0.86
R5193:Tbc1d16 UTSW 11 119,049,646 (GRCm39) missense probably benign 0.00
R5465:Tbc1d16 UTSW 11 119,046,885 (GRCm39) missense probably benign
R5478:Tbc1d16 UTSW 11 119,045,917 (GRCm39) missense probably benign 0.07
R5642:Tbc1d16 UTSW 11 119,049,617 (GRCm39) missense probably damaging 0.98
R5721:Tbc1d16 UTSW 11 119,049,556 (GRCm39) critical splice donor site probably null
R6195:Tbc1d16 UTSW 11 119,101,391 (GRCm39) nonsense probably null
R6233:Tbc1d16 UTSW 11 119,101,391 (GRCm39) nonsense probably null
R6596:Tbc1d16 UTSW 11 119,048,601 (GRCm39) missense probably damaging 1.00
R6932:Tbc1d16 UTSW 11 119,099,742 (GRCm39) missense probably damaging 1.00
R7023:Tbc1d16 UTSW 11 119,049,617 (GRCm39) missense probably damaging 0.98
R7262:Tbc1d16 UTSW 11 119,045,921 (GRCm39) missense probably benign 0.00
R8006:Tbc1d16 UTSW 11 119,046,898 (GRCm39) missense probably damaging 0.96
R8506:Tbc1d16 UTSW 11 119,039,784 (GRCm39) missense probably damaging 0.98
R8532:Tbc1d16 UTSW 11 119,045,993 (GRCm39) missense probably benign 0.11
R8753:Tbc1d16 UTSW 11 119,101,492 (GRCm39) missense probably damaging 1.00
R8839:Tbc1d16 UTSW 11 119,047,474 (GRCm39) missense probably damaging 0.99
R9049:Tbc1d16 UTSW 11 119,100,090 (GRCm39) missense probably damaging 1.00
R9104:Tbc1d16 UTSW 11 119,038,626 (GRCm39) missense probably damaging 1.00
R9378:Tbc1d16 UTSW 11 119,099,666 (GRCm39) missense probably damaging 1.00
R9461:Tbc1d16 UTSW 11 119,044,781 (GRCm39) missense probably damaging 1.00
R9498:Tbc1d16 UTSW 11 119,048,681 (GRCm39) missense probably damaging 0.98
R9544:Tbc1d16 UTSW 11 119,101,335 (GRCm39) missense probably damaging 1.00
R9588:Tbc1d16 UTSW 11 119,101,335 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16