Incidental Mutation 'IGL03145:Tbc1d15'
ID410890
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d15
Ensembl Gene ENSMUSG00000020130
Gene NameTBC1 domain family, member 15
SynonymsLy6dl, 4432405K22Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.278) question?
Stock #IGL03145
Quality Score
Status
Chromosome10
Chromosomal Location115197872-115251467 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 115202516 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 597 (M597I)
Ref Sequence ENSEMBL: ENSMUSP00000020339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020339]
Predicted Effect probably benign
Transcript: ENSMUST00000020339
AA Change: M597I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000020339
Gene: ENSMUSG00000020130
AA Change: M597I

DomainStartEndE-ValueType
Pfam:DUF3548 6 224 1.3e-87 PFAM
TBC 326 564 1.14e-50 SMART
Blast:TBC 602 671 5e-23 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217843
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 member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,593,438 D17G probably damaging Het
Adam39 C T 8: 40,824,658 P29S probably benign Het
Afap1l1 T C 18: 61,741,809 K434E possibly damaging Het
Akap7 T C 10: 25,239,667 T187A probably damaging Het
Atp7b A C 8: 22,018,143 I479S probably damaging Het
Cdh23 T A 10: 60,376,814 E1606V probably damaging Het
Cnga3 A G 1: 37,261,674 S530G probably damaging Het
Col13a1 A G 10: 61,891,261 Y228H probably benign Het
Cybb C A X: 9,453,653 E203* probably null Het
Dnah6 A T 6: 73,041,054 M3594K probably damaging Het
Galnt14 C A 17: 73,504,908 Q439H possibly damaging Het
Gck T A 11: 5,909,093 D158V probably damaging Het
Gm5624 A G 14: 44,560,765 M85T possibly damaging Het
Hgsnat A T 8: 25,946,452 N557K probably damaging Het
Idua A G 5: 108,681,496 T388A probably benign Het
Itgam A G 7: 128,113,019 D692G probably benign Het
Lrrtm3 A G 10: 64,089,020 Y123H probably benign Het
Mccc1 C T 3: 35,968,446 R566H probably benign Het
Myh7 A T 14: 54,983,345 L999Q probably damaging Het
Myo6 T G 9: 80,300,665 Y1146* probably null Het
Nr3c1 C A 18: 39,486,260 G325W probably damaging Het
Olfr458 A G 6: 42,460,500 V173A probably benign Het
Olfr497 T A 7: 108,422,599 H9Q probably benign Het
Olfr862 T A 9: 19,883,439 I289F possibly damaging Het
Phf1 T C 17: 26,934,370 probably null Het
Piezo1 T C 8: 122,482,921 T2349A probably benign Het
Pih1d1 T C 7: 45,159,121 probably null Het
Pold3 A G 7: 100,096,512 S145P probably damaging Het
Prpf38b G T 3: 108,903,945 probably benign Het
Racgap1 A T 15: 99,623,640 M545K probably benign Het
Safb T C 17: 56,605,287 Y802H probably damaging Het
Serpina3f A T 12: 104,217,457 M193L probably benign Het
Slc43a2 G A 11: 75,568,437 V432M probably benign Het
Spata2l T C 8: 123,233,336 R405G possibly damaging Het
Sv2c A G 13: 95,989,098 V377A probably damaging Het
Tenm4 A T 7: 96,842,968 R1036S probably damaging Het
Tjp3 A G 10: 81,283,688 Y15H probably benign Het
Tkt A G 14: 30,560,688 probably benign Het
Tpm2 T C 4: 43,519,447 E145G probably damaging Het
Trib2 G A 12: 15,809,931 H110Y probably damaging Het
Trim60 A T 8: 65,000,572 S342T probably damaging Het
Ube2o T C 11: 116,544,009 E542G probably damaging Het
Usp36 T C 11: 118,279,241 D218G probably damaging Het
Zfp407 A G 18: 84,209,721 L1921P probably damaging Het
Zfp983 G T 17: 21,659,008 M42I probably damaging Het
Other mutations in Tbc1d15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Tbc1d15 APN 10 115209641 nonsense probably null
IGL01161:Tbc1d15 APN 10 115202530 missense probably benign 0.01
IGL02458:Tbc1d15 APN 10 115229206 missense probably damaging 0.99
R0140:Tbc1d15 UTSW 10 115220219 missense probably damaging 0.99
R0466:Tbc1d15 UTSW 10 115219172 missense probably damaging 1.00
R0617:Tbc1d15 UTSW 10 115239299 missense probably damaging 1.00
R0633:Tbc1d15 UTSW 10 115220310 missense probably benign 0.00
R1526:Tbc1d15 UTSW 10 115203230 missense probably benign 0.38
R1699:Tbc1d15 UTSW 10 115220314 missense probably benign 0.05
R1727:Tbc1d15 UTSW 10 115210225 missense probably damaging 1.00
R2063:Tbc1d15 UTSW 10 115229173 missense probably benign
R2111:Tbc1d15 UTSW 10 115240914 missense possibly damaging 0.88
R4751:Tbc1d15 UTSW 10 115202587 missense probably damaging 1.00
R5318:Tbc1d15 UTSW 10 115208969 nonsense probably null
R5480:Tbc1d15 UTSW 10 115233218 missense probably damaging 1.00
R5746:Tbc1d15 UTSW 10 115210279 missense probably damaging 1.00
R5891:Tbc1d15 UTSW 10 115220308 missense probably benign 0.20
R6012:Tbc1d15 UTSW 10 115219207 missense probably damaging 1.00
R6306:Tbc1d15 UTSW 10 115233243 missense possibly damaging 0.91
R6989:Tbc1d15 UTSW 10 115209569 missense probably damaging 1.00
R7792:Tbc1d15 UTSW 10 115221587 missense possibly damaging 0.91
R8134:Tbc1d15 UTSW 10 115209569 missense probably damaging 1.00
R8231:Tbc1d15 UTSW 10 115229140 missense probably damaging 1.00
R8507:Tbc1d15 UTSW 10 115202502 critical splice donor site probably null
Posted On2016-08-02