Incidental Mutation 'IGL01065:Tbc1d4'
ID52645
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d4
Ensembl Gene ENSMUSG00000033083
Gene NameTBC1 domain family, member 4
Synonyms5930406J04Rik, AS160
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01065
Quality Score
Status
Chromosome14
Chromosomal Location101442360-101609191 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to C at 101449193 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161991] [ENSMUST00000162617]
Predicted Effect probably benign
Transcript: ENSMUST00000159951
SMART Domains Protein: ENSMUSP00000124511
Gene: ENSMUSG00000033083

DomainStartEndE-ValueType
PTB 28 170 8.6e-22 SMART
Pfam:DUF3350 459 522 2.3e-31 PFAM
TBC 574 794 5.2e-77 SMART
Blast:TBC 819 877 7e-24 BLAST
Blast:TBC 882 936 1e-20 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161304
Predicted Effect probably benign
Transcript: ENSMUST00000161991
SMART Domains Protein: ENSMUSP00000125509
Gene: ENSMUSG00000033083

DomainStartEndE-ValueType
PTB 31 191 2.08e-29 SMART
PTB 197 457 3.16e-29 SMART
Pfam:DUF3350 746 809 1.2e-27 PFAM
TBC 860 1080 5.2e-77 SMART
Blast:TBC 1105 1163 1e-23 BLAST
Blast:TBC 1168 1222 1e-20 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000162617
SMART Domains Protein: ENSMUSP00000124909
Gene: ENSMUSG00000033083

DomainStartEndE-ValueType
PTB 31 191 2.08e-29 SMART
PTB 197 457 3.16e-29 SMART
low complexity region 708 720 N/A INTRINSIC
Pfam:DUF3350 809 872 3.3e-31 PFAM
TBC 923 1143 5.2e-77 SMART
Blast:TBC 1168 1226 2e-23 BLAST
Blast:TBC 1231 1285 1e-20 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 is a member of the Tre-2/BUB2/CDC16 domain family. The protein encoded by this gene is a Rab-GTPase-activating protein, and contains two phopshotyrosine-binding domains (PTB1 and PTB2), a calmodulin-binding domain (CBD), a Rab-GTPase domain, and multiple AKT phosphomotifs. This protein is thought to play an important role in glucose homeostasis by regulating the insulin-dependent trafficking of the glucose transporter 4 (GLUT4), important for removing glucose from the bloodstream into skeletal muscle and fat tissues. Reduced expression of this gene results in an increase in GLUT4 levels at the plasma membrane, suggesting that this protein is important in intracellular retention of GLUT4 under basal conditions. When exposed to insulin, this protein is phosphorylated, dissociates from GLUT4 vesicles, resulting in increased GLUT4 at the cell surface, and enhanced glucose transport. Phosphorylation of this protein by AKT is required for proper translocation of GLUT4 to the cell surface. Individuals homozygous for a mutation in this gene are at higher risk for type 2 diabetes and have higher levels of circulating glucose and insulin levels after glucose ingestion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced blood glucose levels under both fasted and fed conditions, insulin resistance in both muscle and liver, decreased energy expenditure and oxygen consumption, abnormal adipocyte and muscle cell glucose uptake, and increased hepatic gluconeogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Apob A G 12: 8,003,299 Y1247C probably damaging Het
Atg16l1 A T 1: 87,785,931 N401I probably damaging Het
Bcam T C 7: 19,756,799 H591R probably benign Het
Bcat1 T C 6: 145,000,289 S446G possibly damaging Het
C2cd5 A G 6: 143,078,279 S262P probably damaging Het
Clrn1 T C 3: 58,885,025 K6E probably damaging Het
D17H6S53E A T 17: 35,127,283 K57* probably null Het
Dennd1a T A 2: 37,844,905 I17F probably benign Het
Depdc7 A C 2: 104,722,081 Y460* probably null Het
Disp3 T C 4: 148,261,183 Y400C probably damaging Het
Edem3 T C 1: 151,777,551 Y203H probably damaging Het
Fam71a T C 1: 191,163,027 D473G probably benign Het
Fbxl5 A G 5: 43,745,334 C679R probably damaging Het
Fhad1 T C 4: 141,905,612 T1194A probably benign Het
Gipc2 A G 3: 152,102,657 L253P possibly damaging Het
Gpr26 T C 7: 131,967,501 Y192H probably damaging Het
Hoxb6 A G 11: 96,300,809 T186A probably damaging Het
Kif24 A G 4: 41,423,639 probably benign Het
Lonp1 T C 17: 56,615,500 probably benign Het
Lrp1 A G 10: 127,575,038 I1427T probably benign Het
Lrp2 C T 2: 69,469,436 E3091K possibly damaging Het
Lzts1 T C 8: 69,136,092 N404S probably benign Het
Map3k4 A T 17: 12,232,990 D1470E probably damaging Het
Med30 A T 15: 52,721,060 N125Y probably benign Het
Mgam G A 6: 40,662,710 probably null Het
Mrps33 G A 6: 39,802,513 R83* probably null Het
Notch3 A T 17: 32,146,416 Y1107* probably null Het
Rc3h2 T A 2: 37,377,844 probably benign Het
Rev1 T C 1: 38,099,009 E65G possibly damaging Het
Rgl1 T C 1: 152,519,142 N760S probably damaging Het
Slc16a4 T C 3: 107,303,100 I362T possibly damaging Het
Slc25a24 G A 3: 109,158,651 probably benign Het
Slc2a4 G T 11: 69,945,956 probably benign Het
Slc39a13 T A 2: 91,063,706 I256F probably damaging Het
Spdya A T 17: 71,556,325 N23I possibly damaging Het
Srpr T A 9: 35,213,438 W112R probably damaging Het
Ttc39d G A 17: 80,216,274 G121R probably damaging Het
Tuba3a C T 6: 125,282,957 V9M possibly damaging Het
Upf2 A G 2: 5,961,300 K244E unknown Het
Usp39 T C 6: 72,339,975 Y141C probably damaging Het
Other mutations in Tbc1d4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Tbc1d4 APN 14 101608112 missense probably damaging 1.00
IGL00864:Tbc1d4 APN 14 101444566 missense probably benign 0.23
IGL01144:Tbc1d4 APN 14 101444663 missense probably damaging 0.99
IGL01153:Tbc1d4 APN 14 101608015 missense possibly damaging 0.52
IGL01472:Tbc1d4 APN 14 101489864 nonsense probably null
IGL02177:Tbc1d4 APN 14 101454939 missense possibly damaging 0.90
IGL02259:Tbc1d4 APN 14 101465730 missense probably damaging 1.00
IGL02938:Tbc1d4 APN 14 101501100 missense probably damaging 1.00
IGL02975:Tbc1d4 APN 14 101458113 missense probably damaging 1.00
R0396:Tbc1d4 UTSW 14 101458063 splice site probably null
R0787:Tbc1d4 UTSW 14 101449209 missense probably damaging 1.00
R0944:Tbc1d4 UTSW 14 101479220 splice site probably benign
R1167:Tbc1d4 UTSW 14 101608019 missense probably damaging 1.00
R1456:Tbc1d4 UTSW 14 101507106 missense probably damaging 1.00
R1465:Tbc1d4 UTSW 14 101447688 missense possibly damaging 0.87
R1465:Tbc1d4 UTSW 14 101447688 missense possibly damaging 0.87
R1672:Tbc1d4 UTSW 14 101475215 missense possibly damaging 0.92
R1762:Tbc1d4 UTSW 14 101507138 missense possibly damaging 0.95
R2057:Tbc1d4 UTSW 14 101477155 missense probably damaging 0.97
R2260:Tbc1d4 UTSW 14 101494411 missense probably damaging 1.00
R2762:Tbc1d4 UTSW 14 101494361 missense probably damaging 1.00
R3814:Tbc1d4 UTSW 14 101458755 missense possibly damaging 0.94
R3983:Tbc1d4 UTSW 14 101507213 missense probably benign 0.00
R4498:Tbc1d4 UTSW 14 101608336 missense probably damaging 1.00
R4580:Tbc1d4 UTSW 14 101458783 missense probably benign 0.00
R4664:Tbc1d4 UTSW 14 101462827 intron probably benign
R4872:Tbc1d4 UTSW 14 101444708 missense probably benign 0.06
R4940:Tbc1d4 UTSW 14 101507231 missense probably benign 0.27
R4964:Tbc1d4 UTSW 14 101458174 missense probably damaging 1.00
R4966:Tbc1d4 UTSW 14 101458174 missense probably damaging 1.00
R5103:Tbc1d4 UTSW 14 101458882 nonsense probably null
R5180:Tbc1d4 UTSW 14 101507572 missense probably damaging 1.00
R5366:Tbc1d4 UTSW 14 101607976 missense possibly damaging 0.67
R5673:Tbc1d4 UTSW 14 101455008 missense probably damaging 1.00
R6057:Tbc1d4 UTSW 14 101489917 missense probably damaging 0.99
R6180:Tbc1d4 UTSW 14 101458770 missense probably benign 0.01
R6361:Tbc1d4 UTSW 14 101507174 missense probably damaging 0.97
R6509:Tbc1d4 UTSW 14 101608318 missense possibly damaging 0.92
R6791:Tbc1d4 UTSW 14 101608259 missense probably damaging 0.98
R7001:Tbc1d4 UTSW 14 101458749 missense probably benign 0.43
R7016:Tbc1d4 UTSW 14 101487441 missense probably damaging 1.00
R7575:Tbc1d4 UTSW 14 101447589 missense probably damaging 1.00
R7691:Tbc1d4 UTSW 14 101507641 missense probably damaging 1.00
R7936:Tbc1d4 UTSW 14 101465754 missense probably damaging 1.00
R7991:Tbc1d4 UTSW 14 101608279 missense probably damaging 0.98
R8182:Tbc1d4 UTSW 14 101507554 missense probably damaging 1.00
R8540:Tbc1d4 UTSW 14 101608276 missense probably damaging 1.00
Z1088:Tbc1d4 UTSW 14 101452423 missense probably damaging 1.00
Z1176:Tbc1d4 UTSW 14 101507087 critical splice donor site probably null
Posted On2013-06-21