Incidental Mutation 'IGL03223:Tbc1d13'
ID413714
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d13
Ensembl Gene ENSMUSG00000039678
Gene NameTBC1 domain family, member 13
Synonyms2600014A06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.248) question?
Stock #IGL03223
Quality Score
Status
Chromosome2
Chromosomal Location30133746-30152013 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 30148636 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 311 (I311N)
Ref Sequence ENSEMBL: ENSMUSP00000048426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044556]
Predicted Effect probably damaging
Transcript: ENSMUST00000044556
AA Change: I311N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000048426
Gene: ENSMUSG00000039678
AA Change: I311N

DomainStartEndE-ValueType
TBC 32 370 4.18e-58 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132324
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3b1 T A 19: 3,915,329 H394L probably damaging Het
B430306N03Rik G A 17: 48,316,868 V66I probably damaging Het
Btbd10 T C 7: 113,332,670 N175S probably damaging Het
Dock4 C A 12: 40,817,594 Q1390K probably damaging Het
Eea1 A C 10: 96,039,611 E1248A probably damaging Het
Farp2 T A 1: 93,617,602 Y827* probably null Het
Gcc2 A G 10: 58,298,734 Y1510C probably damaging Het
Igfbp7 A C 5: 77,349,471 probably benign Het
Il1rapl1 A C X: 87,300,735 C185G probably damaging Het
Itga7 A G 10: 128,948,811 probably benign Het
Itsn1 T C 16: 91,905,306 V12A probably benign Het
Lrrc4 A T 6: 28,831,470 C49S probably damaging Het
Lrrc49 T A 9: 60,687,845 K5N possibly damaging Het
Myh13 T C 11: 67,350,242 I815T probably benign Het
Myh8 T C 11: 67,283,818 I253T probably damaging Het
Myo19 A G 11: 84,910,471 T948A possibly damaging Het
Nhs T A X: 161,841,906 I837F probably damaging Het
Olfr1450 T C 19: 12,953,904 V105A probably benign Het
Olfr1467 G T 19: 13,365,281 V218L probably benign Het
Pfpl A T 19: 12,430,074 Q563L probably damaging Het
Swt1 A G 1: 151,379,419 M809T possibly damaging Het
Tgs1 T C 4: 3,591,322 probably benign Het
Usf3 C T 16: 44,216,450 T431M probably damaging Het
Vdac1 G A 11: 52,376,655 R93H probably benign Het
Vmn1r234 G A 17: 21,229,391 G189D probably damaging Het
Zfp14 A G 7: 30,038,433 Y376H probably damaging Het
Zfp472 T C 17: 32,977,274 C108R probably benign Het
Zfp658 A G 7: 43,567,311 E35G possibly damaging Het
Other mutations in Tbc1d13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Tbc1d13 APN 2 30140511 missense probably damaging 1.00
IGL02390:Tbc1d13 APN 2 30137387 unclassified probably benign
IGL03182:Tbc1d13 APN 2 30147367 missense probably damaging 1.00
R0617:Tbc1d13 UTSW 2 30135564 splice site probably benign
R4457:Tbc1d13 UTSW 2 30135438 utr 3 prime probably benign
R5107:Tbc1d13 UTSW 2 30146721 missense probably damaging 1.00
R5184:Tbc1d13 UTSW 2 30142311 missense probably benign 0.38
R5381:Tbc1d13 UTSW 2 30137367 missense probably benign 0.09
R5810:Tbc1d13 UTSW 2 30142368 missense probably benign 0.02
R5853:Tbc1d13 UTSW 2 30137381 missense probably damaging 1.00
R6803:Tbc1d13 UTSW 2 30135510 utr 3 prime probably benign
Z1088:Tbc1d13 UTSW 2 30134872 critical splice donor site probably null
Posted On2016-08-02