Incidental Mutation 'IGL01951:Tbc1d23'
ID181060
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? Possibly essential (E-score: 0.683) question?
Stock #IGL01951
Quality Score
Status
Chromosome16
Chromosomal Location57168862-57231504 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 57186685 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023431] [ENSMUST00000226586]
Predicted Effect probably benign
Transcript: ENSMUST00000023431
SMART Domains Protein: ENSMUSP00000023431
Gene: ENSMUSG00000022749

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 noncoding transcript
Transcript: ENSMUST00000226486
Predicted Effect probably benign
Transcript: ENSMUST00000226586
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227531
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,235,668 I152T probably damaging Het
A2m C T 6: 121,667,190 T949I possibly damaging Het
Begain T A 12: 109,033,645 Y605F probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cavin2 A G 1: 51,289,411 E9G possibly damaging Het
Cdh16 A G 8: 104,617,691 V72A probably damaging Het
Dgkd T C 1: 87,916,916 L268P probably damaging Het
Eps8 T A 6: 137,537,671 Y28F possibly damaging Het
Erap1 T C 13: 74,675,295 I816T probably damaging Het
Fli1 A T 9: 32,461,364 F126Y probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21957 A T 7: 125,219,832 noncoding transcript Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Gm9833 G A 3: 10,089,058 V296M probably damaging Het
Hectd1 T A 12: 51,794,497 R618* probably null Het
Homez T C 14: 54,858,176 E25G probably damaging Het
Ifngr1 C A 10: 19,609,454 N400K possibly damaging Het
Lin7a G A 10: 107,412,025 V186I possibly damaging Het
Lpcat2 G T 8: 92,918,047 S448I probably damaging Het
Lrp10 C A 14: 54,468,662 Y436* probably null Het
Myo1f A G 17: 33,598,017 H707R possibly damaging Het
Neurl4 A G 11: 69,909,623 N1147D probably damaging Het
Olfr1272 G T 2: 90,282,007 D189E probably damaging Het
Olfr1414 T C 1: 92,511,131 D299G probably null Het
Pak6 T C 2: 118,693,260 S299P probably benign Het
Panx2 A G 15: 89,068,767 D487G probably damaging Het
Sbspon T C 1: 15,858,934 N211S probably benign Het
Sgsm1 T A 5: 113,286,767 probably benign Het
Slc38a4 T C 15: 97,019,763 Y27C probably benign Het
Sorbs1 A G 19: 40,318,016 probably benign Het
Ssh1 A T 5: 113,966,247 Y35N possibly damaging Het
Stx2 A T 5: 128,992,265 F127L probably damaging Het
Synm A T 7: 67,739,137 I325N probably damaging Het
Szt2 A G 4: 118,376,493 probably benign Het
Tmem50a T C 4: 134,898,428 probably benign Het
Tpx2 T G 2: 152,884,176 L354V probably benign Het
Trafd1 G A 5: 121,374,031 R399C possibly damaging Het
Trem3 C T 17: 48,249,875 R125W probably damaging Het
Ubp1 T A 9: 113,951,618 Y92* probably null Het
Wnk1 T A 6: 119,963,485 T62S probably damaging Het
Zbtb6 T C 2: 37,429,331 E195G probably benign Het
Zc3h15 A G 2: 83,661,485 D306G probably 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
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 On2014-05-07