Incidental Mutation 'R1586:Tbcd'
ID 177526
Institutional Source Beutler Lab
Gene Symbol Tbcd
Ensembl Gene ENSMUSG00000039230
Gene Name tubulin-specific chaperone d
Synonyms 2310057L06Rik, A030005L14Rik
MMRRC Submission 039623-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R1586 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 121342817-121507996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121387886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 339 (Q339R)
Ref Sequence ENSEMBL: ENSMUSP00000099302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103013] [ENSMUST00000106093]
AlphaFold Q8BYA0
Predicted Effect probably benign
Transcript: ENSMUST00000103013
AA Change: Q339R

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099302
Gene: ENSMUSG00000039230
AA Change: Q339R

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
low complexity region 45 62 N/A INTRINSIC
SCOP:d1b3ua_ 357 742 4e-20 SMART
Pfam:TFCD_C 900 1090 1.4e-74 PFAM
low complexity region 1113 1120 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106093
Predicted Effect probably benign
Transcript: ENSMUST00000125167
SMART Domains Protein: ENSMUSP00000124735
Gene: ENSMUSG00000039230

DomainStartEndE-ValueType
low complexity region 36 58 N/A INTRINSIC
Meta Mutation Damage Score 0.1548 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency 93% (65/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cofactor D 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

All alleles(23) : Gene trapped(23)

Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,337,228 (GRCm39) A2361V probably damaging Het
Alpi A G 1: 87,027,923 (GRCm39) I219T probably damaging Het
Anapc10 T A 8: 80,501,772 (GRCm39) M180K probably benign Het
Ank3 A G 10: 69,713,708 (GRCm39) I431V probably damaging Het
Anxa8 T A 14: 33,815,894 (GRCm39) D182E probably damaging Het
Atp1a3 T A 7: 24,678,808 (GRCm39) I945F probably damaging Het
Atp2a3 T C 11: 72,882,570 (GRCm39) S1019P probably damaging Het
Cbs T A 17: 31,841,448 (GRCm39) I258F probably damaging Het
Cic T C 7: 24,985,386 (GRCm39) S277P probably damaging Het
Cidea T A 18: 67,493,230 (GRCm39) V83E probably damaging Het
Cilp G A 9: 65,186,997 (GRCm39) G1031S probably damaging Het
Clca3a2 A G 3: 144,516,477 (GRCm39) I373T possibly damaging Het
Cpvl T A 6: 53,903,886 (GRCm39) D293V probably damaging Het
Cryz A G 3: 154,317,147 (GRCm39) N122S probably benign Het
Dmap1 T C 4: 117,533,319 (GRCm39) E245G probably damaging Het
Epha2 C T 4: 141,045,916 (GRCm39) probably benign Het
Fam222b C T 11: 78,045,347 (GRCm39) L303F probably damaging Het
Fastkd1 T C 2: 69,542,492 (GRCm39) D105G probably benign Het
Fat4 T A 3: 38,943,009 (GRCm39) L634Q probably damaging Het
Fbxo10 A T 4: 45,042,036 (GRCm39) I731N possibly damaging Het
Fig4 A G 10: 41,141,423 (GRCm39) F279L probably damaging Het
Guk1 A G 11: 59,077,675 (GRCm39) S22P probably damaging Het
Kmt2d A G 15: 98,762,934 (GRCm39) probably benign Het
Macf1 A T 4: 123,403,639 (GRCm39) S727T probably benign Het
Mki67 T A 7: 135,315,701 (GRCm39) K54* probably null Het
Ms4a8a T C 19: 11,053,696 (GRCm39) T137A possibly damaging Het
Myo5c T C 9: 75,174,313 (GRCm39) Y557H probably damaging Het
Nav3 T A 10: 109,689,115 (GRCm39) K387N probably damaging Het
Oga T G 19: 45,765,349 (GRCm39) T153P possibly damaging Het
Or5bb10 G T 19: 12,206,241 (GRCm39) A223E probably damaging Het
Pde4c T A 8: 71,199,508 (GRCm39) Y223N probably damaging Het
Psd T G 19: 46,303,237 (GRCm39) E715A probably damaging Het
Rpl7 A T 1: 16,172,807 (GRCm39) S171T probably benign Het
Rrm1 A G 7: 102,116,112 (GRCm39) *66W probably null Het
Scgb1b3 T A 7: 31,075,388 (GRCm39) H79Q probably damaging Het
Serpinb9 A T 13: 33,199,469 (GRCm39) M255L probably benign Het
Slc35a4 T C 18: 36,816,058 (GRCm39) V296A probably benign Het
Smgc G A 15: 91,722,596 (GRCm39) A9T possibly damaging Het
Snx11 C A 11: 96,661,522 (GRCm39) W161L probably benign Het
Spag17 A G 3: 99,929,068 (GRCm39) K533E possibly damaging Het
Spata31g1 A G 4: 42,971,512 (GRCm39) I282V probably benign Het
Speer4b A G 5: 27,702,011 (GRCm39) S250P probably damaging Het
Spta1 A T 1: 174,041,061 (GRCm39) H1287L probably benign Het
Surf2 T C 2: 26,809,767 (GRCm39) F239S probably damaging Het
Tada1 G A 1: 166,214,319 (GRCm39) R106H possibly damaging Het
Tbc1d22a C A 15: 86,235,852 (GRCm39) probably null Het
Tdrd7 A G 4: 45,994,445 (GRCm39) H281R probably benign Het
Tomm5 A G 4: 45,107,915 (GRCm39) probably null Het
Ttc7 T C 17: 87,669,373 (GRCm39) probably null Het
Ulk1 A T 5: 110,937,382 (GRCm39) F638Y probably damaging Het
Vps35l T A 7: 118,409,195 (GRCm39) I612N probably damaging Het
Wdr93 C A 7: 79,418,109 (GRCm39) D277E probably damaging Het
Znrf3 T C 11: 5,231,477 (GRCm39) R583G probably damaging Het
Zscan29 T A 2: 120,991,641 (GRCm39) I716F probably damaging Het
Other mutations in Tbcd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Tbcd APN 11 121,466,147 (GRCm39) missense probably damaging 0.96
IGL00795:Tbcd APN 11 121,507,758 (GRCm39) missense probably benign
IGL00802:Tbcd APN 11 121,499,436 (GRCm39) missense possibly damaging 0.55
IGL01286:Tbcd APN 11 121,384,719 (GRCm39) critical splice donor site probably null
IGL01325:Tbcd APN 11 121,431,819 (GRCm39) missense probably damaging 0.99
IGL01348:Tbcd APN 11 121,387,902 (GRCm39) missense probably benign
IGL01432:Tbcd APN 11 121,366,506 (GRCm39) splice site probably benign
IGL01577:Tbcd APN 11 121,387,838 (GRCm39) missense probably damaging 1.00
IGL01660:Tbcd APN 11 121,496,153 (GRCm39) missense probably benign 0.01
IGL01865:Tbcd APN 11 121,481,206 (GRCm39) missense possibly damaging 0.81
IGL02260:Tbcd APN 11 121,494,104 (GRCm39) missense probably damaging 1.00
IGL02492:Tbcd APN 11 121,387,960 (GRCm39) missense probably benign 0.06
IGL02620:Tbcd APN 11 121,352,081 (GRCm39) missense probably damaging 1.00
IGL02950:Tbcd APN 11 121,494,535 (GRCm39) missense probably damaging 0.99
R6859_Tbcd_818 UTSW 11 121,387,937 (GRCm39) missense possibly damaging 0.81
R0066:Tbcd UTSW 11 121,394,590 (GRCm39) nonsense probably null
R0066:Tbcd UTSW 11 121,394,590 (GRCm39) nonsense probably null
R0077:Tbcd UTSW 11 121,485,100 (GRCm39) missense probably benign 0.00
R0349:Tbcd UTSW 11 121,493,809 (GRCm39) splice site probably null
R0865:Tbcd UTSW 11 121,493,815 (GRCm39) missense possibly damaging 0.88
R1203:Tbcd UTSW 11 121,366,451 (GRCm39) missense probably benign 0.00
R1221:Tbcd UTSW 11 121,387,909 (GRCm39) missense probably benign 0.00
R1549:Tbcd UTSW 11 121,451,579 (GRCm39) missense probably benign
R1671:Tbcd UTSW 11 121,488,120 (GRCm39) missense probably benign 0.00
R2048:Tbcd UTSW 11 121,431,762 (GRCm39) missense probably damaging 1.00
R2051:Tbcd UTSW 11 121,344,496 (GRCm39) missense probably damaging 1.00
R2124:Tbcd UTSW 11 121,494,146 (GRCm39) missense probably damaging 1.00
R2151:Tbcd UTSW 11 121,494,457 (GRCm39) missense possibly damaging 0.95
R2153:Tbcd UTSW 11 121,494,457 (GRCm39) missense possibly damaging 0.95
R3120:Tbcd UTSW 11 121,499,474 (GRCm39) missense probably damaging 0.97
R4108:Tbcd UTSW 11 121,384,637 (GRCm39) missense probably benign 0.00
R4244:Tbcd UTSW 11 121,485,107 (GRCm39) missense probably damaging 1.00
R4587:Tbcd UTSW 11 121,496,097 (GRCm39) missense possibly damaging 0.75
R4684:Tbcd UTSW 11 121,384,597 (GRCm39) missense probably damaging 1.00
R4837:Tbcd UTSW 11 121,473,611 (GRCm39) critical splice donor site probably null
R4861:Tbcd UTSW 11 121,492,787 (GRCm39) missense probably damaging 1.00
R4861:Tbcd UTSW 11 121,492,787 (GRCm39) missense probably damaging 1.00
R4960:Tbcd UTSW 11 121,464,681 (GRCm39) missense probably benign 0.03
R5157:Tbcd UTSW 11 121,500,853 (GRCm39) missense probably benign 0.14
R5166:Tbcd UTSW 11 121,500,216 (GRCm39) missense possibly damaging 0.87
R5403:Tbcd UTSW 11 121,451,569 (GRCm39) missense probably damaging 0.99
R5406:Tbcd UTSW 11 121,342,927 (GRCm39) missense probably benign
R5509:Tbcd UTSW 11 121,492,838 (GRCm39) missense probably benign 0.00
R5767:Tbcd UTSW 11 121,483,518 (GRCm39) missense probably benign 0.00
R5923:Tbcd UTSW 11 121,470,978 (GRCm39) missense probably benign
R5966:Tbcd UTSW 11 121,492,737 (GRCm39) intron probably benign
R6330:Tbcd UTSW 11 121,387,912 (GRCm39) missense probably benign
R6539:Tbcd UTSW 11 121,447,813 (GRCm39) critical splice donor site probably null
R6852:Tbcd UTSW 11 121,500,206 (GRCm39) missense probably benign 0.36
R6859:Tbcd UTSW 11 121,387,937 (GRCm39) missense possibly damaging 0.81
R7348:Tbcd UTSW 11 121,485,137 (GRCm39) missense probably benign 0.22
R7479:Tbcd UTSW 11 121,383,431 (GRCm39) critical splice donor site probably null
R7679:Tbcd UTSW 11 121,494,534 (GRCm39) missense probably benign 0.01
R8121:Tbcd UTSW 11 121,487,969 (GRCm39) splice site probably null
R8163:Tbcd UTSW 11 121,384,711 (GRCm39) missense probably benign 0.00
R8165:Tbcd UTSW 11 121,384,711 (GRCm39) missense probably benign 0.00
R8172:Tbcd UTSW 11 121,384,711 (GRCm39) missense probably benign 0.00
R8973:Tbcd UTSW 11 121,387,679 (GRCm39) unclassified probably benign
R8975:Tbcd UTSW 11 121,387,679 (GRCm39) unclassified probably benign
R9314:Tbcd UTSW 11 121,487,297 (GRCm39) missense probably benign 0.01
R9345:Tbcd UTSW 11 121,464,648 (GRCm39) missense probably damaging 1.00
R9556:Tbcd UTSW 11 121,467,053 (GRCm39) missense probably damaging 0.96
R9673:Tbcd UTSW 11 121,464,647 (GRCm39) missense probably damaging 1.00
Z1177:Tbcd UTSW 11 121,481,232 (GRCm39) missense probably null 0.14
Predicted Primers PCR Primer
(F):5'- ACGTATAGGTGTTGCCATTGCCTTC -3'
(R):5'- GTCACTGACCACATGCTAGGTGAG -3'

Sequencing Primer
(F):5'- GCTGTAGAAGGCTCTTCAGAATC -3'
(R):5'- CACATGCTAGGTGAGGTAGCAG -3'
Posted On 2014-04-24