Incidental Mutation 'IGL01370:Tbc1d5'
ID76097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d5
Ensembl Gene ENSMUSG00000023923
Gene NameTBC1 domain family, member 5
Synonyms1600014N05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.152) question?
Stock #IGL01370
Quality Score
Status
Chromosome17
Chromosomal Location50733124-51179352 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 50966727 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 119 (I119F)
Ref Sequence ENSEMBL: ENSMUSP00000024717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024717] [ENSMUST00000224528]
Predicted Effect probably benign
Transcript: ENSMUST00000024717
AA Change: I119F

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923
AA Change: I119F

DomainStartEndE-ValueType
TBC 78 384 5.56e-86 SMART
low complexity region 475 492 N/A INTRINSIC
SCOP:d1lsha3 511 546 1e-3 SMART
low complexity region 556 568 N/A INTRINSIC
low complexity region 783 802 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223758
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223979
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224123
Predicted Effect probably benign
Transcript: ENSMUST00000224528
AA Change: I119F

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225252
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 36,947,755 I1283N probably benign Het
Adck1 A T 12: 88,456,733 probably benign Het
Add1 C T 5: 34,630,515 T210I probably damaging Het
Alpk2 A T 18: 65,350,591 D115E possibly damaging Het
Ankrd36 C T 11: 5,584,019 T290I probably benign Het
Ccnt2 T C 1: 127,803,513 F709S possibly damaging Het
Erc1 T C 6: 119,824,465 E197G probably damaging Het
Ftsj3 G T 11: 106,252,319 R390S possibly damaging Het
Gabrb3 G A 7: 57,816,478 A347T probably benign Het
Gatsl2 T C 5: 134,138,272 V323A probably benign Het
Gde1 A G 7: 118,689,160 probably benign Het
Gm996 T C 2: 25,578,957 E314G possibly damaging Het
Jhy A T 9: 40,917,142 N489K probably benign Het
Kiss1r A G 10: 79,918,824 T51A probably benign Het
Lama5 T C 2: 180,197,400 S772G possibly damaging Het
Lamb2 G T 9: 108,487,733 probably null Het
Loxl3 A G 6: 83,049,487 T475A probably damaging Het
Lpl A T 8: 68,887,568 S72C possibly damaging Het
Lrrc74a A T 12: 86,754,430 I352F probably damaging Het
Mcoln2 T C 3: 146,181,830 I334T possibly damaging Het
Mettl8 T G 2: 70,982,039 D49A probably damaging Het
Ms4a3 T A 19: 11,632,881 T106S probably benign Het
Obscn T A 11: 58,995,563 probably null Het
Olfr108 C A 17: 37,445,714 H64Q probably benign Het
Olfr113 T C 17: 37,574,521 I301V probably null Het
Olfr1461 A T 19: 13,165,299 Y95F possibly damaging Het
Olfr406 G A 11: 74,269,499 V37I probably benign Het
Olfr732 G T 14: 50,282,232 T7K probably damaging Het
Pcnx2 T C 8: 125,801,483 K1333E probably damaging Het
Pias3 T C 3: 96,703,575 F364L probably damaging Het
Piezo2 T A 18: 63,022,460 I2438F probably damaging Het
Plcb3 A C 19: 6,962,824 V465G probably damaging Het
Plekho2 G T 9: 65,558,630 H159N probably damaging Het
Polr2e A G 10: 80,036,847 probably benign Het
Rab6b G T 9: 103,163,895 V163L probably benign Het
Rabep1 A G 11: 70,925,781 M597V probably benign Het
Rbm15 A G 3: 107,331,010 S691P probably damaging Het
Sec24b G A 3: 130,007,604 probably benign Het
Slc6a18 A G 13: 73,667,031 I386T probably damaging Het
Stxbp3 A C 3: 108,797,425 Y497* probably null Het
Styk1 T C 6: 131,301,652 K353R probably damaging Het
Tbc1d10b A T 7: 127,199,081 H629Q probably damaging Het
Tcp11l1 G T 2: 104,706,486 D11E probably benign Het
Tfap2d A G 1: 19,104,785 Y154C probably damaging Het
Tgm5 T C 2: 121,053,537 N325S probably benign Het
Thbs2 T C 17: 14,690,065 K91E possibly damaging Het
Vmn2r26 T A 6: 124,061,756 F763L probably benign Het
Washc4 A G 10: 83,558,830 E308G probably damaging Het
Xpot C A 10: 121,604,494 A611S probably benign Het
Other mutations in Tbc1d5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Tbc1d5 APN 17 50813798 missense possibly damaging 0.52
IGL01625:Tbc1d5 APN 17 50917573 missense probably benign 0.27
IGL01935:Tbc1d5 APN 17 50963765 splice site probably benign
IGL02229:Tbc1d5 APN 17 50852600 missense probably damaging 1.00
IGL02811:Tbc1d5 APN 17 50800121 missense probably damaging 0.99
IGL03192:Tbc1d5 APN 17 50984681 splice site probably benign
FR4976:Tbc1d5 UTSW 17 50799931 missense probably benign
FR4976:Tbc1d5 UTSW 17 50799943 missense probably benign 0.01
IGL02796:Tbc1d5 UTSW 17 50966624 missense probably damaging 1.00
R0153:Tbc1d5 UTSW 17 50984687 splice site probably benign
R0326:Tbc1d5 UTSW 17 50966736 missense probably damaging 1.00
R0417:Tbc1d5 UTSW 17 50756705 missense probably benign 0.18
R0481:Tbc1d5 UTSW 17 50919051 missense probably damaging 0.98
R1143:Tbc1d5 UTSW 17 50742059 nonsense probably null
R1533:Tbc1d5 UTSW 17 50920575 missense possibly damaging 0.89
R1543:Tbc1d5 UTSW 17 50935532 missense probably benign 0.32
R2888:Tbc1d5 UTSW 17 50935549 missense probably damaging 1.00
R3153:Tbc1d5 UTSW 17 50968236 missense probably damaging 1.00
R3430:Tbc1d5 UTSW 17 50800128 missense probably damaging 1.00
R3898:Tbc1d5 UTSW 17 50963744 missense probably damaging 0.98
R4116:Tbc1d5 UTSW 17 50920587 missense probably damaging 1.00
R4352:Tbc1d5 UTSW 17 50782401 missense probably damaging 0.98
R4456:Tbc1d5 UTSW 17 50782341 missense probably damaging 1.00
R4648:Tbc1d5 UTSW 17 50736223 missense probably benign
R4711:Tbc1d5 UTSW 17 50935509 missense probably damaging 0.98
R4754:Tbc1d5 UTSW 17 50800165 missense probably benign 0.03
R5303:Tbc1d5 UTSW 17 50736200 missense probably benign 0.00
R5360:Tbc1d5 UTSW 17 50984632 missense probably benign 0.26
R5443:Tbc1d5 UTSW 17 50735967 missense probably damaging 0.98
R5444:Tbc1d5 UTSW 17 50735967 missense probably damaging 0.98
R5611:Tbc1d5 UTSW 17 50735967 missense probably damaging 0.98
R5658:Tbc1d5 UTSW 17 50813841 missense probably benign 0.18
R5701:Tbc1d5 UTSW 17 50799955 small deletion probably benign
R5921:Tbc1d5 UTSW 17 50963693 missense probably damaging 1.00
R6280:Tbc1d5 UTSW 17 50782310 missense probably benign 0.01
R6628:Tbc1d5 UTSW 17 50736208 missense probably benign
R6705:Tbc1d5 UTSW 17 51025175 start gained probably benign
R6990:Tbc1d5 UTSW 17 50968232 missense probably benign 0.19
Z1088:Tbc1d5 UTSW 17 50963696 missense probably damaging 1.00
Posted On2013-10-07