Incidental Mutation 'IGL03182:Tbc1d13'
ID412308
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: 0.165) question?
Stock #IGL03182
Quality Score
Status
Chromosome2
Chromosomal Location30133746-30152013 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 30147367 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 254 (A254T)
Ref Sequence ENSEMBL: ENSMUSP00000048426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044556]
Predicted Effect probably damaging
Transcript: ENSMUST00000044556
AA Change: A254T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048426
Gene: ENSMUSG00000039678
AA Change: A254T

DomainStartEndE-ValueType
TBC 32 370 4.18e-58 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129789
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132324
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A T 6: 34,803,500 K469N probably damaging Het
Aldh2 A G 5: 121,580,724 probably benign Het
Ankfy1 T C 11: 72,728,754 probably benign Het
Ankhd1 C T 18: 36,578,774 T209I probably benign Het
Aox3 G A 1: 58,165,887 V754I probably benign Het
Arfgef3 C T 10: 18,600,544 R1509H probably damaging Het
AU019823 T C 9: 50,612,398 N50S possibly damaging Het
Ccdc157 A G 11: 4,151,832 S30P probably damaging Het
Cept1 T A 3: 106,504,550 E369D probably damaging Het
Clcnka T C 4: 141,394,487 Y236C probably damaging Het
Ddx42 A T 11: 106,247,527 L717F probably benign Het
Dnah11 A T 12: 118,030,291 I2340N probably damaging Het
Dsel T C 1: 111,860,138 E889G probably damaging Het
Fasn T C 11: 120,812,726 Y1560C probably damaging Het
Fermt2 A T 14: 45,461,768 M623K possibly damaging Het
Gm21970 T A 16: 91,393,838 S110T possibly damaging Het
Gm826 T A 2: 160,327,115 R91S unknown Het
Lrrn3 A G 12: 41,454,021 L99S probably damaging Het
Megf8 T A 7: 25,347,348 M1552K possibly damaging Het
Mgll G T 6: 88,823,191 V191F probably damaging Het
Nol8 C A 13: 49,664,081 H778N probably damaging Het
Olfr1090 A T 2: 86,754,022 S239T probably damaging Het
Olfr1471 A C 19: 13,445,443 T144P possibly damaging Het
Olfr385 T A 11: 73,589,442 T99S probably benign Het
Olfr948 A T 9: 39,318,981 M211K probably benign Het
Pfkfb3 A T 2: 11,501,663 I13N probably damaging Het
Pim1 T A 17: 29,491,766 D114E possibly damaging Het
Pkd1 T C 17: 24,573,818 L1493P probably damaging Het
Plb1 A T 5: 32,344,915 probably benign Het
Plch1 A T 3: 63,702,594 Y872* probably null Het
Rictor A G 15: 6,789,598 D1434G probably benign Het
Rptor G A 11: 119,725,145 G162R probably damaging Het
Serping1 T C 2: 84,765,818 D424G probably damaging Het
Slit2 A G 5: 48,220,053 I475V possibly damaging Het
Snx31 G T 15: 36,525,687 Q289K probably benign Het
Tek T C 4: 94,851,765 I750T probably damaging Het
Tet2 A T 3: 133,471,398 L1296* probably null Het
Tmem145 T A 7: 25,314,879 F459I probably damaging Het
Uba5 A T 9: 104,054,129 V247D possibly damaging Het
Vmn1r83 T C 7: 12,321,690 M147V probably benign Het
Vwde T C 6: 13,187,139 D783G probably damaging Het
Zfp609 A G 9: 65,701,005 S1198P probably benign 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
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
R8069:Tbc1d13 UTSW 2 30147403 missense probably damaging 1.00
Z1088:Tbc1d13 UTSW 2 30134872 critical splice donor site probably null
Posted On2016-08-02