Incidental Mutation 'IGL00540:Tbc1d23'
ID5789
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 #IGL00540
Quality Score
Status
Chromosome16
Chromosomal Location57168862-57231504 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 57171776 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 607 (E607V)
Ref Sequence ENSEMBL: ENSMUSP00000023431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023431] [ENSMUST00000023432] [ENSMUST00000226586]
Predicted Effect probably damaging
Transcript: ENSMUST00000023431
AA Change: E607V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023431
Gene: ENSMUSG00000022749
AA Change: E607V

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 benign
Transcript: ENSMUST00000023432
SMART Domains Protein: ENSMUSP00000023432
Gene: ENSMUSG00000022751

DomainStartEndE-ValueType
Pfam:CN_hydrolase 5 256 3.5e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180999
Predicted Effect possibly damaging
Transcript: ENSMUST00000226586
AA Change: E622V

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227681
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232573
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik A G 1: 26,684,977 I374T probably benign Het
Amph G T 13: 19,120,606 G398V probably damaging Het
C2cd3 T G 7: 100,391,128 S301R probably benign Het
Calr G A 8: 84,844,744 P178S possibly damaging Het
Cbll1 G T 12: 31,487,941 P271T probably damaging Het
Ccl7 A T 11: 82,047,062 D89V probably damaging Het
Cd82 T A 2: 93,420,659 I179F probably null Het
Cdh10 A T 15: 18,963,995 D81V probably damaging Het
Cenpo A G 12: 4,216,685 V141A probably benign Het
Dnah11 A G 12: 118,186,922 V367A probably benign Het
Fam161b T C 12: 84,361,751 probably benign Het
Gemin5 G A 11: 58,160,818 P268S probably damaging Het
Gm5965 T A 16: 88,778,340 C134S probably damaging Het
Icam4 C A 9: 21,030,086 R174S possibly damaging Het
Kdm5a T A 6: 120,385,719 probably null Het
Klhl10 A G 11: 100,445,418 K77R probably benign Het
Mrgprb1 A T 7: 48,447,543 V207E probably damaging Het
Myh10 A G 11: 68,790,708 N1067S probably benign Het
Myo1b T C 1: 51,763,954 E856G possibly damaging Het
Nbea T C 3: 55,628,493 Y2890C probably damaging Het
Pcdhb16 T C 18: 37,479,798 S604P probably damaging Het
Pelp1 A T 11: 70,394,812 D743E possibly damaging Het
Pisd T C 5: 32,738,412 I441V probably benign Het
Rab25 A G 3: 88,545,239 S21P probably damaging Het
Sspo G A 6: 48,498,213 probably benign Het
Ssr1 T C 13: 37,983,431 D252G probably damaging Het
Stx1b T C 7: 127,810,698 E19G probably damaging Het
Tchhl1 A G 3: 93,470,923 I311M probably benign Het
Trpm6 C T 19: 18,783,908 probably benign Het
Other mutations in Tbc1d23
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03226:Tbc1d23 APN 16 57214262 missense probably damaging 1.00
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 On2012-04-20