Incidental Mutation 'R4895:Tbc1d23'
ID 434674
Institutional Source Beutler Lab
Gene Symbol Tbc1d23
Ensembl Gene ENSMUSG00000022749
Gene Name TBC1 domain family, member 23
Synonyms 4930451A13Rik, D030022P07Rik
MMRRC Submission 042499-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.788) question?
Stock # R4895 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 56989225-57051867 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 57019220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023431] [ENSMUST00000023431] [ENSMUST00000226586] [ENSMUST00000228172]
AlphaFold Q8K0F1
Predicted Effect probably null
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 probably null
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 probably null
Transcript: ENSMUST00000226586
Predicted Effect probably benign
Transcript: ENSMUST00000228172
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231391
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231435
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (84/86)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik C A 2: 154,454,990 (GRCm39) probably benign Het
Abat G A 16: 8,433,826 (GRCm39) A392T probably benign Het
Abca14 G A 7: 119,846,572 (GRCm39) probably null Het
Abcc6 A T 7: 45,630,414 (GRCm39) L1282Q possibly damaging Het
Acss2 A G 2: 155,392,401 (GRCm39) probably benign Het
Adgrf1 G T 17: 43,621,511 (GRCm39) V583L probably benign Het
Aftph T C 11: 20,646,801 (GRCm39) D825G probably damaging Het
Ahnak T C 19: 8,994,805 (GRCm39) V5363A probably benign Het
Apba3 G A 10: 81,107,117 (GRCm39) probably null Het
Asb13 T C 13: 3,693,589 (GRCm39) Y116H probably damaging Het
Asb4 C A 6: 5,398,266 (GRCm39) T77K probably damaging Het
Atp8b4 A T 2: 126,256,289 (GRCm39) H223Q probably benign Het
Best1 A G 19: 9,970,135 (GRCm39) L159P probably benign Het
Cacna1h A T 17: 25,608,396 (GRCm39) M731K probably damaging Het
Catspere1 T A 1: 177,687,427 (GRCm39) noncoding transcript Het
Cenpv A T 11: 62,418,346 (GRCm39) Y202* probably null Het
Cep57 A T 9: 13,727,449 (GRCm39) probably benign Het
Cfap100 T A 6: 90,383,084 (GRCm39) D363V possibly damaging Het
Cluh A G 11: 74,558,231 (GRCm39) Y1126C probably damaging Het
Cyp2j5 A G 4: 96,551,347 (GRCm39) probably null Het
Dnajc11 T C 4: 152,064,390 (GRCm39) F514L probably damaging Het
Efcab3 C T 11: 104,611,112 (GRCm39) T318I probably benign Het
Efcab3 T A 11: 105,008,227 (GRCm39) probably benign Het
Efcab3 A G 11: 104,640,496 (GRCm39) D1026G probably damaging Het
Eif2b4 T G 5: 31,350,298 (GRCm39) Q8P probably benign Het
Epha6 A T 16: 59,486,918 (GRCm39) V1043E probably benign Het
Gm11562 G T 11: 99,511,141 (GRCm39) Q20K unknown Het
Gm14415 A T 2: 176,796,114 (GRCm39) noncoding transcript Het
Gm5431 A G 11: 48,779,855 (GRCm39) S634P probably damaging Het
Gpld1 C A 13: 25,163,711 (GRCm39) N501K probably damaging Het
Gsn C T 2: 35,192,590 (GRCm39) R513C probably damaging Het
Gulp1 T C 1: 44,827,757 (GRCm39) F300L probably benign Het
H2aj T C 6: 136,785,660 (GRCm39) V108A possibly damaging Het
Haus3 T C 5: 34,325,414 (GRCm39) R82G probably benign Het
Herc2 G A 7: 55,872,734 (GRCm39) R4424H probably damaging Het
Hmcn1 T A 1: 150,553,130 (GRCm39) Q2520L probably benign Het
Hs2st1 T C 3: 144,171,014 (GRCm39) I53V probably benign Het
Inpp5e C T 2: 26,287,924 (GRCm39) R624Q probably damaging Het
Ints8 G T 4: 11,230,367 (GRCm39) C491* probably null Het
Itpkb C A 1: 180,241,460 (GRCm39) A710D probably damaging Het
Kcnk4 A C 19: 6,905,784 (GRCm39) probably null Het
Kmt2d T C 15: 98,742,368 (GRCm39) probably benign Het
Lamb3 C T 1: 193,014,622 (GRCm39) R594* probably null Het
Map3k20 A G 2: 72,232,700 (GRCm39) probably benign Het
Maz A T 7: 126,624,472 (GRCm39) probably null Het
Mtr T C 13: 12,231,752 (GRCm39) T651A probably benign Het
Nbeal1 A G 1: 60,332,062 (GRCm39) E2252G probably damaging Het
Ndufa10 A G 1: 92,397,618 (GRCm39) Y61H probably damaging Het
Npat T A 9: 53,481,789 (GRCm39) L1166M probably damaging Het
Or12e1 A C 2: 87,022,192 (GRCm39) I54L probably benign Het
Or4c108 A T 2: 88,804,055 (GRCm39) F60Y probably benign Het
Or5ak20 A T 2: 85,183,341 (GRCm39) *310K probably null Het
Or5b97 C T 19: 12,878,251 (GRCm39) V298M probably damaging Het
Or5h22 C T 16: 58,895,020 (GRCm39) C141Y probably benign Het
Or5p66 A C 7: 107,885,802 (GRCm39) I177S probably damaging Het
Pcdhb3 T C 18: 37,434,759 (GRCm39) F242L probably damaging Het
Phip A G 9: 82,841,648 (GRCm39) V57A probably benign Het
Plekha7 A T 7: 115,788,626 (GRCm39) probably null Het
Pot1a A C 6: 25,753,205 (GRCm39) F444V probably damaging Het
Ppm1a C T 12: 72,831,126 (GRCm39) P217L probably damaging Het
Prepl A G 17: 85,388,494 (GRCm39) F203S probably damaging Het
Prl8a1 T C 13: 27,759,513 (GRCm39) I175V probably benign Het
Ranbp6 A T 19: 29,787,175 (GRCm39) I1059N possibly damaging Het
Rhag A G 17: 41,122,242 (GRCm39) Q59R probably benign Het
Sema4c A C 1: 36,592,651 (GRCm39) probably null Het
Sf3b3 T C 8: 111,542,656 (GRCm39) D902G probably benign Het
Tbrg1 A T 9: 37,566,375 (GRCm39) I54N probably damaging Het
Tchh A T 3: 93,352,993 (GRCm39) E811V unknown Het
Tenm3 T A 8: 48,754,006 (GRCm39) D799V probably damaging Het
Tlr5 T C 1: 182,801,764 (GRCm39) L342P probably damaging Het
Tppp C T 13: 74,178,996 (GRCm39) R146* probably null Het
Trpm4 A T 7: 44,967,482 (GRCm39) M574K probably damaging Het
Uggt1 A T 1: 36,195,345 (GRCm39) F1288Y probably damaging Het
Uggt2 T A 14: 119,256,298 (GRCm39) K1124N probably damaging Het
Usf3 A C 16: 44,041,459 (GRCm39) S1980R possibly damaging Het
Vav2 T C 2: 27,208,973 (GRCm39) D100G probably damaging Het
Vmn2r3 G T 3: 64,167,182 (GRCm39) H650N probably benign Het
Vmn2r59 T A 7: 41,695,218 (GRCm39) Y398F probably damaging Het
Zfp619 A G 7: 39,187,396 (GRCm39) D1142G possibly damaging Het
Zfp933 G A 4: 147,910,892 (GRCm39) R235* probably null Het
Other mutations in Tbc1d23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Tbc1d23 APN 16 56,992,139 (GRCm39) missense probably damaging 1.00
IGL01063:Tbc1d23 APN 16 57,013,038 (GRCm39) missense probably benign 0.04
IGL01951:Tbc1d23 APN 16 57,007,048 (GRCm39) splice site probably benign
IGL01980:Tbc1d23 APN 16 57,009,615 (GRCm39) splice site probably benign
IGL02457:Tbc1d23 APN 16 56,990,754 (GRCm39) missense probably damaging 1.00
IGL02937:Tbc1d23 APN 16 57,004,778 (GRCm39) missense possibly damaging 0.94
IGL03226:Tbc1d23 APN 16 57,034,625 (GRCm39) missense probably damaging 1.00
R0386:Tbc1d23 UTSW 16 57,009,636 (GRCm39) missense probably damaging 1.00
R0472:Tbc1d23 UTSW 16 56,993,469 (GRCm39) missense possibly damaging 0.74
R0479:Tbc1d23 UTSW 16 56,992,177 (GRCm39) missense probably damaging 1.00
R0609:Tbc1d23 UTSW 16 56,993,469 (GRCm39) missense possibly damaging 0.74
R1124:Tbc1d23 UTSW 16 57,034,525 (GRCm39) critical splice donor site probably null
R1430:Tbc1d23 UTSW 16 57,034,573 (GRCm39) missense probably damaging 1.00
R1797:Tbc1d23 UTSW 16 56,993,463 (GRCm39) missense possibly damaging 0.90
R1978:Tbc1d23 UTSW 16 57,009,714 (GRCm39) missense probably benign
R4675:Tbc1d23 UTSW 16 57,003,325 (GRCm39) missense possibly damaging 0.72
R4756:Tbc1d23 UTSW 16 57,019,258 (GRCm39) frame shift probably null
R4781:Tbc1d23 UTSW 16 57,038,778 (GRCm39) missense possibly damaging 0.87
R4799:Tbc1d23 UTSW 16 57,012,991 (GRCm39) missense probably benign 0.01
R5389:Tbc1d23 UTSW 16 57,019,291 (GRCm39) missense probably damaging 1.00
R5601:Tbc1d23 UTSW 16 57,018,672 (GRCm39) missense probably benign 0.02
R6041:Tbc1d23 UTSW 16 56,993,513 (GRCm39) missense probably benign 0.14
R6176:Tbc1d23 UTSW 16 56,992,152 (GRCm39) missense probably damaging 1.00
R6195:Tbc1d23 UTSW 16 57,051,713 (GRCm39) missense possibly damaging 0.56
R6228:Tbc1d23 UTSW 16 57,003,266 (GRCm39) missense probably damaging 0.98
R6232:Tbc1d23 UTSW 16 56,990,796 (GRCm39) missense probably benign 0.39
R6484:Tbc1d23 UTSW 16 56,998,379 (GRCm39) missense probably damaging 1.00
R6670:Tbc1d23 UTSW 16 57,034,580 (GRCm39) missense probably benign 0.00
R6957:Tbc1d23 UTSW 16 57,028,686 (GRCm39) missense probably damaging 1.00
R7218:Tbc1d23 UTSW 16 56,990,745 (GRCm39) missense probably damaging 1.00
R7601:Tbc1d23 UTSW 16 57,001,897 (GRCm39) missense probably benign 0.10
R7877:Tbc1d23 UTSW 16 56,993,488 (GRCm39) missense probably benign 0.35
R7886:Tbc1d23 UTSW 16 57,009,746 (GRCm39) missense possibly damaging 0.95
R8202:Tbc1d23 UTSW 16 57,011,917 (GRCm39) missense probably damaging 1.00
R8927:Tbc1d23 UTSW 16 56,992,152 (GRCm39) missense probably damaging 1.00
R8928:Tbc1d23 UTSW 16 56,992,152 (GRCm39) missense probably damaging 1.00
R9240:Tbc1d23 UTSW 16 57,032,748 (GRCm39) missense possibly damaging 0.89
R9405:Tbc1d23 UTSW 16 57,012,985 (GRCm39) missense possibly damaging 0.91
R9522:Tbc1d23 UTSW 16 57,019,107 (GRCm39) missense probably benign 0.37
R9772:Tbc1d23 UTSW 16 56,990,765 (GRCm39) missense probably damaging 1.00
Z1177:Tbc1d23 UTSW 16 57,003,338 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ACAACCCGAATGAGCTGAGATC -3'
(R):5'- ACTTCATGTGCTGTCACTGAC -3'

Sequencing Primer
(F):5'- TGAGCTGAGATCAAATGACCTC -3'
(R):5'- CTTCACTAACTTGAAGTGGCAGC -3'
Posted On 2016-10-24