Incidental Mutation 'IGL03226:Tbc1d23'
ID414835
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d23
Ensembl Gene ENSMUSG00000022749
Gene NameTBC1 domain family, member 23
Synonyms4930451A13Rik, D030022P07Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.775) question?
Stock #IGL03226
Quality Score
Status
Chromosome16
Chromosomal Location57168862-57231504 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 57214262 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 58 (L58Q)
Ref Sequence ENSEMBL: ENSMUSP00000153899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023431] [ENSMUST00000226586] [ENSMUST00000228172]
Predicted Effect probably damaging
Transcript: ENSMUST00000023431
AA Change: L58Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023431
Gene: ENSMUSG00000022749
AA Change: L58Q

DomainStartEndE-ValueType
TBC 41 249 7.22e-5 SMART
RHOD 323 443 7.83e-1 SMART
low complexity region 459 472 N/A INTRINSIC
Blast:TBC 506 630 8e-14 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000226586
AA Change: L58Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227359
Predicted Effect probably damaging
Transcript: ENSMUST00000228172
AA Change: L58Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit increased serum cytokine production and inflammatory cells in the peritoneum following i.p. lipopolysaccharide injection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A G 14: 70,157,609 V32A probably damaging Het
Als2 T C 1: 59,186,520 T944A probably benign Het
B020004J07Rik T A 4: 101,835,397 T469S probably benign Het
Bcat2 T A 7: 45,588,354 V348E probably damaging Het
Bnip2 A G 9: 69,996,174 D36G probably benign Het
C2cd5 T A 6: 143,072,566 D310V possibly damaging Het
Cltc G A 11: 86,720,287 T582M probably damaging Het
Dync2h1 T C 9: 7,125,918 H1896R probably benign Het
Efcab5 T C 11: 77,137,675 R413G possibly damaging Het
Fam131b C T 6: 42,318,954 M169I possibly damaging Het
Fam241b A G 10: 62,109,892 S52P probably benign Het
Fam35a T C 14: 34,268,371 T193A probably benign Het
Gpd2 G A 2: 57,304,486 probably null Het
Gucy1a1 T A 3: 82,119,024 Q41L probably benign Het
Ifna16 T C 4: 88,676,504 D118G probably benign Het
Kcnn1 T C 8: 70,846,491 probably benign Het
Lman1l A T 9: 57,610,007 Y365N probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Lyst A T 13: 13,709,559 H2984L probably benign Het
Myh7b C T 2: 155,620,483 Q369* probably null Het
Nalcn A C 14: 123,281,115 W1671G probably benign Het
Ndrg2 G A 14: 51,906,569 probably benign Het
Nfia C A 4: 98,063,049 P371Q probably damaging Het
Olfr975 A C 9: 39,950,423 probably null Het
Pcdhb22 A G 18: 37,518,956 D159G probably damaging Het
Plekhm3 A T 1: 64,921,800 D432E possibly damaging Het
Rab2a A G 4: 8,606,448 N195S probably benign Het
Sbf1 A G 15: 89,289,105 Y1764H possibly damaging Het
Scap A G 9: 110,384,267 T1127A possibly damaging Het
Slc45a2 A G 15: 11,022,192 D340G probably damaging Het
Tmcc1 T C 6: 116,133,976 T119A probably damaging Het
Tnfsf10 C A 3: 27,335,448 Y219* probably null Het
Traip G A 9: 107,970,993 R437Q probably damaging Het
Tyw3 T C 3: 154,587,550 T163A possibly damaging Het
Other mutations in Tbc1d23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Tbc1d23 APN 16 57171776 missense probably damaging 1.00
IGL01063:Tbc1d23 APN 16 57192675 missense probably benign 0.04
IGL01951:Tbc1d23 APN 16 57186685 splice site probably benign
IGL01980:Tbc1d23 APN 16 57189252 splice site probably benign
IGL02457:Tbc1d23 APN 16 57170391 missense probably damaging 1.00
IGL02937:Tbc1d23 APN 16 57184415 missense possibly damaging 0.94
R0386:Tbc1d23 UTSW 16 57189273 missense probably damaging 1.00
R0472:Tbc1d23 UTSW 16 57173106 missense possibly damaging 0.74
R0479:Tbc1d23 UTSW 16 57171814 missense probably damaging 1.00
R0609:Tbc1d23 UTSW 16 57173106 missense possibly damaging 0.74
R1124:Tbc1d23 UTSW 16 57214162 critical splice donor site probably null
R1430:Tbc1d23 UTSW 16 57214210 missense probably damaging 1.00
R1797:Tbc1d23 UTSW 16 57173100 missense possibly damaging 0.90
R1978:Tbc1d23 UTSW 16 57189351 missense probably benign
R4675:Tbc1d23 UTSW 16 57182962 missense possibly damaging 0.72
R4756:Tbc1d23 UTSW 16 57198895 frame shift probably null
R4781:Tbc1d23 UTSW 16 57218415 missense possibly damaging 0.87
R4799:Tbc1d23 UTSW 16 57192628 missense probably benign 0.01
R4895:Tbc1d23 UTSW 16 57198857 critical splice donor site probably null
R5389:Tbc1d23 UTSW 16 57198928 missense probably damaging 1.00
R5601:Tbc1d23 UTSW 16 57198309 missense probably benign 0.02
R6041:Tbc1d23 UTSW 16 57173150 missense probably benign 0.14
R6176:Tbc1d23 UTSW 16 57171789 missense probably damaging 1.00
R6195:Tbc1d23 UTSW 16 57231350 missense possibly damaging 0.56
R6228:Tbc1d23 UTSW 16 57182903 missense probably damaging 0.98
R6232:Tbc1d23 UTSW 16 57170433 missense probably benign 0.39
R6484:Tbc1d23 UTSW 16 57178016 missense probably damaging 1.00
R6670:Tbc1d23 UTSW 16 57214217 missense probably benign 0.00
R6957:Tbc1d23 UTSW 16 57208323 missense probably damaging 1.00
R7218:Tbc1d23 UTSW 16 57170382 missense probably damaging 1.00
R7601:Tbc1d23 UTSW 16 57181534 missense probably benign 0.10
R7877:Tbc1d23 UTSW 16 57173125 missense probably benign 0.35
R7886:Tbc1d23 UTSW 16 57189383 missense possibly damaging 0.95
R8202:Tbc1d23 UTSW 16 57191554 missense probably damaging 1.00
Z1177:Tbc1d23 UTSW 16 57182975 missense probably damaging 0.98
Posted On2016-08-02