Incidental Mutation 'IGL02229:Tbc1d5'
ID 285407
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d5
Ensembl Gene ENSMUSG00000023923
Gene Name TBC1 domain family, member 5
Synonyms 1600014N05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02229
Quality Score
Status
Chromosome 17
Chromosomal Location 51040152-51486380 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51159628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 393 (M393K)
Ref Sequence ENSEMBL: ENSMUSP00000153172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024717] [ENSMUST00000224528]
AlphaFold Q80XQ2
Predicted Effect probably damaging
Transcript: ENSMUST00000024717
AA Change: M393K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923
AA Change: M393K

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 probably damaging
Transcript: ENSMUST00000224528
AA Change: M393K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,055,696 (GRCm39) D144G probably damaging Het
Adgrg1 G T 8: 95,730,139 (GRCm39) D114Y probably damaging Het
Ago4 T A 4: 126,405,325 (GRCm39) N416I probably benign Het
Aoc1 C T 6: 48,882,843 (GRCm39) Q240* probably null Het
Atl1 G A 12: 69,972,799 (GRCm39) V40I probably benign Het
Cdh2 T C 18: 16,757,810 (GRCm39) I591V probably benign Het
Cic C A 7: 24,990,375 (GRCm39) Q1959K probably damaging Het
Cmya5 C T 13: 93,229,194 (GRCm39) E1965K possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspp1 T C 1: 10,153,781 (GRCm39) S397P probably damaging Het
D130043K22Rik T C 13: 25,059,907 (GRCm39) Y593H probably damaging Het
Dck A G 5: 88,921,964 (GRCm39) Y142C probably damaging Het
Eea1 A T 10: 95,854,046 (GRCm39) E568V probably damaging Het
Gabra3 A G X: 71,544,683 (GRCm39) probably null Het
Gucy2f A G X: 140,962,984 (GRCm39) S342P probably benign Het
Hbb-bh1 T A 7: 103,492,032 (GRCm39) I61F possibly damaging Het
Hook1 T C 4: 95,889,488 (GRCm39) S235P possibly damaging Het
Hoxd12 G A 2: 74,506,278 (GRCm39) R230H probably damaging Het
Iglc2 C T 16: 19,017,483 (GRCm39) A41T probably benign Het
Il1r1 A G 1: 40,352,518 (GRCm39) K566E probably damaging Het
Kcns3 A T 12: 11,142,093 (GRCm39) M202K probably damaging Het
Krt7 C A 15: 101,325,497 (GRCm39) A442D probably benign Het
Ltk C T 2: 119,589,054 (GRCm39) R200H probably benign Het
Macf1 G T 4: 123,403,619 (GRCm39) D582E probably damaging Het
Mbnl3 A T X: 50,228,218 (GRCm39) Y69N probably damaging Het
Mpp1 T C X: 74,165,034 (GRCm39) probably benign Het
Myo18b A G 5: 113,025,976 (GRCm39) S25P unknown Het
Nsd3 A G 8: 26,200,775 (GRCm39) N1289S probably damaging Het
Or8d1 T A 9: 38,766,712 (GRCm39) M118K possibly damaging Het
Pacs2 A G 12: 113,020,420 (GRCm39) probably benign Het
Rab3gap2 A G 1: 184,991,580 (GRCm39) K689E possibly damaging Het
Sva T A 6: 42,019,156 (GRCm39) C109S probably damaging Het
Taf3 T C 2: 9,957,645 (GRCm39) N174S probably damaging Het
Tmem242 A T 17: 5,461,682 (GRCm39) S129T probably benign Het
Ttn A T 2: 76,701,513 (GRCm39) probably benign Het
Other mutations in Tbc1d5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Tbc1d5 APN 17 51,120,826 (GRCm39) missense possibly damaging 0.52
IGL01370:Tbc1d5 APN 17 51,273,755 (GRCm39) missense probably benign 0.18
IGL01625:Tbc1d5 APN 17 51,224,601 (GRCm39) missense probably benign 0.27
IGL01935:Tbc1d5 APN 17 51,270,793 (GRCm39) splice site probably benign
IGL02811:Tbc1d5 APN 17 51,107,149 (GRCm39) missense probably damaging 0.99
IGL03192:Tbc1d5 APN 17 51,291,709 (GRCm39) splice site probably benign
FR4976:Tbc1d5 UTSW 17 51,106,971 (GRCm39) missense probably benign 0.01
FR4976:Tbc1d5 UTSW 17 51,106,959 (GRCm39) missense probably benign
IGL02796:Tbc1d5 UTSW 17 51,273,652 (GRCm39) missense probably damaging 1.00
R0153:Tbc1d5 UTSW 17 51,291,715 (GRCm39) splice site probably benign
R0326:Tbc1d5 UTSW 17 51,273,764 (GRCm39) missense probably damaging 1.00
R0417:Tbc1d5 UTSW 17 51,063,733 (GRCm39) missense probably benign 0.18
R0481:Tbc1d5 UTSW 17 51,226,079 (GRCm39) missense probably damaging 0.98
R1143:Tbc1d5 UTSW 17 51,049,087 (GRCm39) nonsense probably null
R1533:Tbc1d5 UTSW 17 51,227,603 (GRCm39) missense possibly damaging 0.89
R1543:Tbc1d5 UTSW 17 51,242,560 (GRCm39) missense probably benign 0.32
R2888:Tbc1d5 UTSW 17 51,242,577 (GRCm39) missense probably damaging 1.00
R3153:Tbc1d5 UTSW 17 51,275,264 (GRCm39) missense probably damaging 1.00
R3430:Tbc1d5 UTSW 17 51,107,156 (GRCm39) missense probably damaging 1.00
R3898:Tbc1d5 UTSW 17 51,270,772 (GRCm39) missense probably damaging 0.98
R4116:Tbc1d5 UTSW 17 51,227,615 (GRCm39) missense probably damaging 1.00
R4352:Tbc1d5 UTSW 17 51,089,429 (GRCm39) missense probably damaging 0.98
R4456:Tbc1d5 UTSW 17 51,089,369 (GRCm39) missense probably damaging 1.00
R4648:Tbc1d5 UTSW 17 51,043,251 (GRCm39) missense probably benign
R4711:Tbc1d5 UTSW 17 51,242,537 (GRCm39) missense probably damaging 0.98
R4754:Tbc1d5 UTSW 17 51,107,193 (GRCm39) missense probably benign 0.03
R5303:Tbc1d5 UTSW 17 51,043,228 (GRCm39) missense probably benign 0.00
R5360:Tbc1d5 UTSW 17 51,291,660 (GRCm39) missense probably benign 0.26
R5443:Tbc1d5 UTSW 17 51,042,995 (GRCm39) missense probably damaging 0.98
R5444:Tbc1d5 UTSW 17 51,042,995 (GRCm39) missense probably damaging 0.98
R5611:Tbc1d5 UTSW 17 51,042,995 (GRCm39) missense probably damaging 0.98
R5658:Tbc1d5 UTSW 17 51,120,869 (GRCm39) missense probably benign 0.18
R5701:Tbc1d5 UTSW 17 51,106,983 (GRCm39) small deletion probably benign
R5921:Tbc1d5 UTSW 17 51,270,721 (GRCm39) missense probably damaging 1.00
R6280:Tbc1d5 UTSW 17 51,089,338 (GRCm39) missense probably benign 0.01
R6628:Tbc1d5 UTSW 17 51,043,236 (GRCm39) missense probably benign
R6705:Tbc1d5 UTSW 17 51,332,203 (GRCm39) start gained probably benign
R6990:Tbc1d5 UTSW 17 51,275,260 (GRCm39) missense probably benign 0.19
R7184:Tbc1d5 UTSW 17 51,107,110 (GRCm39) missense probably benign 0.00
R7443:Tbc1d5 UTSW 17 51,273,763 (GRCm39) missense probably damaging 1.00
R7484:Tbc1d5 UTSW 17 51,224,573 (GRCm39) missense possibly damaging 0.68
R7696:Tbc1d5 UTSW 17 51,181,605 (GRCm39) missense probably damaging 1.00
R7787:Tbc1d5 UTSW 17 51,181,711 (GRCm39) nonsense probably null
R7827:Tbc1d5 UTSW 17 51,089,291 (GRCm39) missense probably damaging 0.99
R7841:Tbc1d5 UTSW 17 51,106,950 (GRCm39) small deletion probably benign
R7861:Tbc1d5 UTSW 17 51,063,720 (GRCm39) missense probably damaging 0.99
R7931:Tbc1d5 UTSW 17 51,106,892 (GRCm39) splice site probably benign
R8108:Tbc1d5 UTSW 17 51,049,114 (GRCm39) missense probably benign 0.01
R8434:Tbc1d5 UTSW 17 51,089,455 (GRCm39) splice site probably benign
R8683:Tbc1d5 UTSW 17 51,291,631 (GRCm39) critical splice donor site probably null
R8792:Tbc1d5 UTSW 17 51,106,962 (GRCm39) small insertion probably benign
R8799:Tbc1d5 UTSW 17 51,106,969 (GRCm39) small insertion probably benign
R8799:Tbc1d5 UTSW 17 51,106,963 (GRCm39) small insertion probably benign
R8799:Tbc1d5 UTSW 17 51,106,962 (GRCm39) small insertion probably benign
R8799:Tbc1d5 UTSW 17 51,106,978 (GRCm39) small insertion probably benign
R8848:Tbc1d5 UTSW 17 51,226,082 (GRCm39) missense probably damaging 1.00
R9027:Tbc1d5 UTSW 17 51,063,692 (GRCm39) missense probably damaging 0.97
R9176:Tbc1d5 UTSW 17 51,089,363 (GRCm39) missense probably benign
R9751:Tbc1d5 UTSW 17 51,181,680 (GRCm39) missense possibly damaging 0.65
Z1088:Tbc1d5 UTSW 17 51,270,724 (GRCm39) missense probably damaging 1.00
Z1177:Tbc1d5 UTSW 17 51,273,581 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16