Incidental Mutation 'R1124:Tbc1d23'
ID 96012
Institutional Source Beutler Lab
Gene Symbol Tbc1d23
Ensembl Gene ENSMUSG00000022749
Gene Name TBC1 domain family, member 23
Synonyms 4930451A13Rik, D030022P07Rik
MMRRC Submission 039197-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.788) question?
Stock # R1124 (G1)
Quality Score 225
Status Not 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 T at 57034525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154535 (fasta)
Gene Model predicted gene model for transcript(s): [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: ENSMUST00000226586
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227359
Predicted Effect probably benign
Transcript: ENSMUST00000228172
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 86.6%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik C T 14: 32,384,039 (GRCm39) R642Q possibly damaging Het
Aadacl2fm3 A G 3: 59,772,639 (GRCm39) T48A probably benign Het
Aadacl4fm1 A G 4: 144,255,194 (GRCm39) T205A probably benign Het
Aadacl4fm4 T C 4: 144,396,845 (GRCm39) S296G probably benign Het
Anxa10 C T 8: 62,514,038 (GRCm39) probably null Het
Bcl11a A T 11: 24,113,928 (GRCm39) M424L probably damaging Het
Bhlhe41 A G 6: 145,809,456 (GRCm39) S119P probably damaging Het
C2cd3 A G 7: 100,071,888 (GRCm39) D1033G probably benign Het
Ccdc174 T C 6: 91,876,561 (GRCm39) V466A probably benign Het
Dnaaf11 T A 15: 66,310,264 (GRCm39) T335S possibly damaging Het
Drd2 T C 9: 49,306,940 (GRCm39) Y9H probably damaging Het
Fbxw14 T A 9: 109,105,236 (GRCm39) I310F possibly damaging Het
Grm3 C T 5: 9,620,297 (GRCm39) V316I probably benign Het
Gys2 A G 6: 142,391,739 (GRCm39) Y508H probably damaging Het
Lrp1b T A 2: 40,765,063 (GRCm39) D2921V probably damaging Het
Macrod2 A G 2: 140,294,547 (GRCm39) K71R probably damaging Het
Myh7 A T 14: 55,211,327 (GRCm39) V1614E possibly damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Or8k23 T A 2: 86,186,239 (GRCm39) K162N probably damaging Het
Pirb T A 7: 3,722,731 (GRCm39) N87I probably benign Het
Pmfbp1 A G 8: 110,257,115 (GRCm39) probably null Het
Rasa4 A G 5: 136,134,510 (GRCm39) N627S probably benign Het
Spata31d1b A C 13: 59,864,468 (GRCm39) M539L probably benign Het
Tnfrsf1b A T 4: 144,950,926 (GRCm39) L229Q probably benign Het
Trip12 A T 1: 84,714,758 (GRCm39) V443E probably damaging Het
Ush2a G T 1: 188,485,733 (GRCm39) V2948L probably damaging Het
Vmn1r204 A T 13: 22,741,209 (GRCm39) Y280F possibly damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Vmn2r93 G T 17: 18,518,710 (GRCm39) K56N probably benign Het
Xrn1 A G 9: 95,885,918 (GRCm39) I880V probably benign Het
Zfp106 C T 2: 120,365,195 (GRCm39) G404E probably benign 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
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
R4895:Tbc1d23 UTSW 16 57,019,220 (GRCm39) critical splice donor site probably null
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'- TCAGTGCCCAGAAGCCATTTAACC -3'
(R):5'- ACATGGTGGTGGGGACACTTGA -3'

Sequencing Primer
(F):5'- CAAGCTCTTCTAATTGAAGGCTGC -3'
(R):5'- GACACTTGATGATGTGTGGATAC -3'
Posted On 2014-01-05