Incidental Mutation 'IGL00331:Tbc1d13'
ID7244
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: 0.182) question?
Stock #IGL00331
Quality Score
Status
Chromosome2
Chromosomal Location30133746-30152013 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 30140511 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 113 (Y113N)
Ref Sequence ENSEMBL: ENSMUSP00000048426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044556] [ENSMUST00000131261] [ENSMUST00000136183]
Predicted Effect probably damaging
Transcript: ENSMUST00000044556
AA Change: Y113N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048426
Gene: ENSMUSG00000039678
AA Change: Y113N

DomainStartEndE-ValueType
TBC 32 370 4.18e-58 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129789
Predicted Effect probably benign
Transcript: ENSMUST00000131261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134013
Predicted Effect probably benign
Transcript: ENSMUST00000136183
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp C A 1: 74,281,436 probably benign Het
Adamts19 T A 18: 59,007,325 probably benign Het
Afg3l1 T A 8: 123,487,389 F190I probably benign Het
Alms1 T A 6: 85,641,371 S2800T possibly damaging Het
Alox5 A T 6: 116,415,517 W348R probably damaging Het
Atp13a5 G A 16: 29,267,014 Q823* probably null Het
Atp6v1b2 T C 8: 69,088,934 probably null Het
Chuk T C 19: 44,088,023 I416M possibly damaging Het
Dmbt1 A T 7: 131,099,290 Q1066L possibly damaging Het
Dnah5 A G 15: 28,421,620 T3873A probably damaging Het
Endog C T 2: 30,172,900 T184M probably damaging Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgbp T C 7: 28,101,541 probably benign Het
Flii A G 11: 60,715,833 I1061T probably benign Het
Hdac2 T A 10: 36,997,071 N308K probably damaging Het
Hoxa2 T G 6: 52,163,517 Y163S probably damaging Het
Hsd3b7 T C 7: 127,802,972 L263P probably damaging Het
Klf17 T C 4: 117,761,038 T41A probably benign Het
Lrrfip1 T C 1: 91,068,621 M42T probably damaging Het
Mapk8ip1 C T 2: 92,385,188 V614I probably benign Het
Mocs1 T G 17: 49,435,264 probably null Het
Moxd1 T C 10: 24,282,555 probably benign Het
Mterf1a T C 5: 3,891,610 E86G probably damaging Het
Muc4 A G 16: 32,753,185 D1021G probably benign Het
Nomo1 T C 7: 46,045,336 S212P possibly damaging Het
Olfr1471 A G 19: 13,445,624 D204G probably benign Het
Olfr893 T A 9: 38,209,238 Y60N probably damaging Het
Phf21a A C 2: 92,348,029 T385P probably damaging Het
Piwil4 A T 9: 14,715,031 probably benign Het
Pknox1 T C 17: 31,599,645 probably null Het
Prr14l T C 5: 32,831,066 I362V probably benign Het
Sergef C T 7: 46,635,420 probably null Het
Sez6l T C 5: 112,424,645 D948G probably damaging Het
Skor1 A T 9: 63,146,441 L54Q probably damaging Het
Sntn C T 14: 13,679,086 Q87* probably null Het
Syde2 A G 3: 146,014,341 K772E possibly damaging Het
Taf2 T A 15: 55,071,449 probably null Het
Tmem154 T C 3: 84,684,415 F91L probably benign Het
Tmem63a A G 1: 180,966,497 D533G possibly damaging Het
Tmprss15 A T 16: 78,985,994 N712K possibly damaging Het
Trip12 A T 1: 84,730,541 D603E probably damaging Het
Trmt11 T C 10: 30,566,449 D246G probably damaging Het
Vmn1r174 T A 7: 23,754,533 M208K possibly damaging Het
Wdr54 T C 6: 83,155,773 H33R probably benign Het
Zfp207 A G 11: 80,389,002 D111G probably benign Het
Other mutations in Tbc1d13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02390:Tbc1d13 APN 2 30137387 unclassified probably benign
IGL03182:Tbc1d13 APN 2 30147367 missense probably damaging 1.00
IGL03223:Tbc1d13 APN 2 30148636 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 On2012-04-20