Incidental Mutation 'R8165:Tbcd'
ID 633737
Institutional Source Beutler Lab
Gene Symbol Tbcd
Ensembl Gene ENSMUSG00000039230
Gene Name tubulin-specific chaperone d
Synonyms 2310057L06Rik, A030005L14Rik
MMRRC Submission 067591-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R8165 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 121342817-121507996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 121384711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 315 (T315M)
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: T315M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000099302
Gene: ENSMUSG00000039230
AA Change: T315M

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
AA Change: T64M

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (65/65)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C A 5: 64,055,289 (GRCm39) probably null Het
Amph A G 13: 19,279,007 (GRCm39) K161E probably benign Het
Aox1 A T 1: 58,348,088 (GRCm39) H602L probably benign Het
Areg A G 5: 91,291,492 (GRCm39) N145S probably damaging Het
Arhgap29 C T 3: 121,782,222 (GRCm39) T142I probably damaging Het
Bcar3 C T 3: 122,304,805 (GRCm39) probably benign Het
Brpf3 C T 17: 29,025,248 (GRCm39) A107V probably benign Het
Btnl2 T A 17: 34,587,682 (GRCm39) S509T possibly damaging Het
Cacna2d2 A G 9: 107,402,653 (GRCm39) probably null Het
Casz1 C T 4: 149,028,888 (GRCm39) P1111L probably damaging Het
Ccdc91 C T 6: 147,533,086 (GRCm39) T411I unknown Het
Chd9 A C 8: 91,767,769 (GRCm39) E2422A probably damaging Het
Clrn3 T C 7: 135,130,133 (GRCm39) I34V probably benign Het
Cnksr3 C T 10: 7,104,467 (GRCm39) D79N probably damaging Het
Cops8 A G 1: 90,539,729 (GRCm39) probably null Het
Cpa2 A G 6: 30,564,345 (GRCm39) K392R probably benign Het
Dnajc28 G A 16: 91,413,795 (GRCm39) R150* probably null Het
Dnase1l3 T C 14: 7,994,299 (GRCm38) probably benign Het
Gdpd5 A T 7: 99,105,689 (GRCm39) T502S probably benign Het
Gp2 A T 7: 119,049,375 (GRCm39) D387E probably damaging Het
Gpr179 A G 11: 97,242,364 (GRCm39) L160P probably benign Het
Hmcn1 G A 1: 150,522,409 (GRCm39) T3497M probably benign Het
Idh3b T A 2: 130,122,420 (GRCm39) T322S possibly damaging Het
Kit A T 5: 75,781,540 (GRCm39) N323I possibly damaging Het
Kng2 T C 16: 22,806,246 (GRCm39) S445G unknown Het
Lin54 A G 5: 100,602,358 (GRCm39) V393A probably benign Het
Lyst T A 13: 13,872,945 (GRCm39) W2715R probably damaging Het
Mad1l1 T C 5: 140,300,813 (GRCm39) T28A probably benign Het
Med7 T A 11: 46,332,073 (GRCm39) C223S probably benign Het
Megf8 T A 7: 25,053,298 (GRCm39) L1823Q probably damaging Het
Mga C A 2: 119,777,719 (GRCm39) Q1755K probably benign Het
Mgat4b A T 11: 50,101,801 (GRCm39) N22I probably benign Het
Ndufb6 C T 4: 40,270,665 (GRCm39) probably null Het
Neil3 A G 8: 54,042,129 (GRCm39) L490P probably benign Het
Nek9 C T 12: 85,350,417 (GRCm39) V886I probably benign Het
Nol4l A T 2: 153,262,473 (GRCm39) Y366* probably null Het
Nt5dc2 A G 14: 30,860,886 (GRCm39) T354A probably damaging Het
Or1j11 T A 2: 36,311,715 (GRCm39) Y102N probably damaging Het
Pde2a G A 7: 101,149,655 (GRCm39) probably null Het
Phf1 T C 17: 27,156,044 (GRCm39) F444L possibly damaging Het
Plin4 G A 17: 56,414,019 (GRCm39) T202I possibly damaging Het
Plk4 G C 3: 40,768,009 (GRCm39) V851L probably damaging Het
Pp2d1 A G 17: 53,822,257 (GRCm39) S270P probably damaging Het
Ripor1 C A 8: 106,347,520 (GRCm39) L1028M unknown Het
Scn9a A G 2: 66,370,874 (GRCm39) F569L probably damaging Het
Sel1l2 T A 2: 140,104,626 (GRCm39) L306F probably damaging Het
Spic A T 10: 88,513,428 (GRCm39) S86T probably damaging Het
Spmip10 T A 18: 56,722,547 (GRCm39) probably benign Het
Stkld1 A G 2: 26,836,668 (GRCm39) N278S probably benign Het
Taar7d T A 10: 23,903,495 (GRCm39) F126I probably benign Het
Tbc1d31 A G 15: 57,824,345 (GRCm39) E869G possibly damaging Het
Terf2 T C 8: 107,809,656 (GRCm39) K221E possibly damaging Het
Thsd7a T A 6: 12,468,962 (GRCm39) T539S Het
Tll2 A G 19: 41,077,313 (GRCm39) F818L possibly damaging Het
Tmem87a T C 2: 120,200,959 (GRCm39) T427A possibly damaging Het
Ush2a C A 1: 188,183,952 (GRCm39) Q1419K possibly damaging Het
Vill T A 9: 118,895,821 (GRCm39) F511Y probably damaging Het
Virma T A 4: 11,542,128 (GRCm39) D1521E probably benign Het
Vps13c A G 9: 67,766,072 (GRCm39) D63G probably benign Het
Vrk2 A G 11: 26,485,575 (GRCm39) F138L probably benign Het
Zfp710 T C 7: 79,735,775 (GRCm39) I514T probably damaging Het
Zgrf1 T A 3: 127,357,032 (GRCm39) F753I possibly 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
R1586:Tbcd UTSW 11 121,387,886 (GRCm39) missense probably benign 0.13
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
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'- ATCGTATGTTCAGGGATGCG -3'
(R):5'- GCAGAGCAAGCTTCTCCATC -3'

Sequencing Primer
(F):5'- TTCAGGGATGCGTGCCAC -3'
(R):5'- CTTCAGCTACTCTAACTGAGGATAC -3'
Posted On 2020-07-13