Incidental Mutation 'IGL00955:Tbc1d8b'
ID 29592
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d8b
Ensembl Gene ENSMUSG00000042473
Gene Name TBC1 domain family, member 8B
Synonyms 4921505D17Rik, 9030605E16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # IGL00955
Quality Score
Status
Chromosome X
Chromosomal Location 138585745-138654154 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 138626629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000094036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096313]
AlphaFold A3KGB4
Predicted Effect probably null
Transcript: ENSMUST00000096313
SMART Domains Protein: ENSMUSP00000094036
Gene: ENSMUSG00000042473

DomainStartEndE-ValueType
low complexity region 35 56 N/A INTRINSIC
GRAM 145 212 3.66e-21 SMART
GRAM 285 353 2.26e-12 SMART
TBC 483 696 3.9e-58 SMART
Blast:TBC 708 860 9e-80 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl11 A T 14: 61,548,691 (GRCm39) Q167L probably benign Het
Ces3a T A 8: 105,777,202 (GRCm39) V175E probably damaging Het
Cherp C T 8: 73,224,038 (GRCm39) E140K probably damaging Het
Clpx A T 9: 65,231,552 (GRCm39) T546S probably damaging Het
Csgalnact2 A G 6: 118,106,225 (GRCm39) L31P probably damaging Het
Cxcr1 A T 1: 74,231,379 (GRCm39) F214L probably benign Het
Cyp2c67 T A 19: 39,631,829 (GRCm39) T123S possibly damaging Het
Dbt G A 3: 116,339,763 (GRCm39) G384S probably benign Het
Dzank1 G A 2: 144,332,094 (GRCm39) T414I probably benign Het
Erich3 A G 3: 154,454,156 (GRCm39) I641V probably benign Het
Gtf2e1 A T 16: 37,356,282 (GRCm39) D83E possibly damaging Het
Hars2 T C 18: 36,922,410 (GRCm39) probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Kcnh2 T C 5: 24,529,964 (GRCm39) D372G probably damaging Het
Kcnk2 A T 1: 188,975,211 (GRCm39) I264N probably damaging Het
Kctd4 A G 14: 76,200,668 (GRCm39) D213G probably damaging Het
Lhx9 T C 1: 138,756,418 (GRCm39) T323A possibly damaging Het
Lilra6 C A 7: 3,914,403 (GRCm39) probably benign Het
Meig1 T C 2: 3,410,311 (GRCm39) D63G probably damaging Het
Mov10l1 A G 15: 88,879,192 (GRCm39) Y184C probably damaging Het
Mrpl24 T A 3: 87,829,526 (GRCm39) L91* probably null Het
Mup11 C T 4: 60,615,549 (GRCm39) R175H probably benign Het
Nbea T C 3: 55,912,893 (GRCm39) K965E possibly damaging Het
Or52ab7 C A 7: 102,978,528 (GRCm39) H278Q probably damaging Het
Papss1 G A 3: 131,305,710 (GRCm39) E252K probably benign Het
Robo2 A T 16: 73,812,860 (GRCm39) L278Q probably damaging Het
Sned1 A T 1: 93,202,125 (GRCm39) I638F probably damaging Het
Spin1 T C 13: 51,298,577 (GRCm39) probably null Het
Taar9 T C 10: 23,985,429 (GRCm39) T2A probably benign Het
Other mutations in Tbc1d8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02499:Tbc1d8b APN X 138,613,173 (GRCm39) missense probably damaging 1.00
R0676:Tbc1d8b UTSW X 138,613,025 (GRCm39) missense possibly damaging 0.77
R1709:Tbc1d8b UTSW X 138,634,829 (GRCm39) missense probably benign 0.02
R3413:Tbc1d8b UTSW X 138,614,140 (GRCm39) missense probably benign 0.00
Posted On 2013-04-17