Incidental Mutation 'R5198:Tbcc'
ID 400520
Institutional Source Beutler Lab
Gene Symbol Tbcc
Ensembl Gene ENSMUSG00000036430
Gene Name tubulin-specific chaperone C
Synonyms 2810055C19Rik
MMRRC Submission 042774-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R5198 (G1)
Quality Score 127
Status Not validated
Chromosome 17
Chromosomal Location 47201610-47202773 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47201788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 58 (F58S)
Ref Sequence ENSEMBL: ENSMUSP00000048696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040434]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000040434
AA Change: F58S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048696
Gene: ENSMUSG00000036430
AA Change: F58S

DomainStartEndE-ValueType
low complexity region 26 47 N/A INTRINSIC
PDB:2L3L|A 48 132 3e-10 PDB
low complexity region 133 143 N/A INTRINSIC
low complexity region 153 165 N/A INTRINSIC
CARP 206 243 1.62e-6 SMART
CARP 244 278 1.99e-6 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cofactor C is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,571,726 (GRCm39) V1121A probably benign Het
Adamtsl3 A C 7: 82,261,006 (GRCm39) K1647Q possibly damaging Het
Adgrb1 A T 15: 74,415,550 (GRCm39) Q710L probably null Het
Alox12 T C 11: 70,145,243 (GRCm39) E110G probably damaging Het
Cep152 T A 2: 125,429,544 (GRCm39) M738L probably benign Het
Cma2 T C 14: 56,209,532 (GRCm39) V38A probably benign Het
Dlc1 C T 8: 37,405,552 (GRCm39) G79D probably damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dus3l A G 17: 57,076,574 (GRCm39) I585V probably benign Het
Etl4 A G 2: 20,718,198 (GRCm39) Y313C probably damaging Het
Fbxw15 C A 9: 109,387,242 (GRCm39) S251I probably benign Het
Gata4 G A 14: 63,437,900 (GRCm39) S417L probably benign Het
Gdpd5 T A 7: 99,087,515 (GRCm39) Y60N probably damaging Het
Gm17669 T C 18: 67,695,626 (GRCm39) M57T probably benign Het
Gpr39 A T 1: 125,605,173 (GRCm39) I34F probably benign Het
Iffo2 T A 4: 139,302,528 (GRCm39) D90E probably benign Het
Il17c A G 8: 123,149,108 (GRCm39) D84G possibly damaging Het
Itih3 T C 14: 30,634,606 (GRCm39) T134A probably benign Het
Lama2 G A 10: 27,222,999 (GRCm39) A429V probably damaging Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Mug1 G A 6: 121,851,521 (GRCm39) R806H probably damaging Het
Naaa G A 5: 92,415,904 (GRCm39) R65* probably null Het
Nacc2 C T 2: 25,950,346 (GRCm39) M463I probably benign Het
Nemf A G 12: 69,402,821 (GRCm39) S72P probably damaging Het
Nudt7 G A 8: 114,862,185 (GRCm39) probably null Het
Or4b1b T C 2: 90,126,737 (GRCm39) Q156R probably damaging Het
Or52z15 T C 7: 103,331,936 (GRCm39) S4P probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pacs1 T C 19: 5,189,325 (GRCm39) D757G probably benign Het
Pkd2 A C 5: 104,630,958 (GRCm39) I461L probably benign Het
Potegl G A 2: 23,102,473 (GRCm39) C121Y probably damaging Het
Pramel5 T G 4: 144,000,064 (GRCm39) probably benign Het
Ptgdr G C 14: 45,096,300 (GRCm39) F137L probably damaging Het
Pum1 T A 4: 130,507,190 (GRCm39) C1085* probably null Het
Rfx3 T C 19: 27,808,176 (GRCm39) D189G probably damaging Het
Rlf T A 4: 121,005,750 (GRCm39) K1077* probably null Het
Slc25a30 C A 14: 76,007,056 (GRCm39) D147Y probably benign Het
Smap2 T C 4: 120,873,984 (GRCm39) E22G possibly damaging Het
Szt2 T C 4: 118,245,519 (GRCm39) T1098A probably benign Het
Tekt3 G A 11: 62,961,134 (GRCm39) R101H probably damaging Het
Vcan T A 13: 89,838,991 (GRCm39) E2184D probably damaging Het
Vkorc1 T C 7: 127,493,760 (GRCm39) E18G probably benign Het
Vmn1r68 T C 7: 10,261,723 (GRCm39) H125R probably benign Het
Vmn2r63 C A 7: 42,553,169 (GRCm39) V696L probably benign Het
Wdr59 G A 8: 112,208,620 (GRCm39) H421Y probably benign Het
Xkr7 T C 2: 152,896,873 (GRCm39) Y576H probably damaging Het
Zfp112 T C 7: 23,824,281 (GRCm39) V83A possibly damaging Het
Zfp616 G A 11: 73,974,336 (GRCm39) V293I probably benign Het
Other mutations in Tbcc
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4798:Tbcc UTSW 17 47,202,145 (GRCm39) nonsense probably null
R5092:Tbcc UTSW 17 47,202,600 (GRCm39) missense probably benign 0.00
R5338:Tbcc UTSW 17 47,202,082 (GRCm39) missense probably benign
R8005:Tbcc UTSW 17 47,201,686 (GRCm39) missense possibly damaging 0.69
R8103:Tbcc UTSW 17 47,202,046 (GRCm39) missense probably benign 0.03
Z1177:Tbcc UTSW 17 47,201,847 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- ATATGGAGGGAGCTGACGTCAC -3'
(R):5'- TTCTTGGGCTGCAACTCCTG -3'

Sequencing Primer
(F):5'- AATCACAGCGCGCGTTG -3'
(R):5'- TCCGTTAGGACAGCCTGCAG -3'
Posted On 2016-07-06