Incidental Mutation 'IGL01286:Tbcd'
ID 72738
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbcd
Ensembl Gene ENSMUSG00000039230
Gene Name tubulin-specific chaperone d
Synonyms 2310057L06Rik, A030005L14Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL01286
Quality Score
Status
Chromosome 11
Chromosomal Location 121342817-121507996 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 121384719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103013] [ENSMUST00000106093]
AlphaFold Q8BYA0
Predicted Effect probably null
Transcript: ENSMUST00000103013
SMART Domains Protein: ENSMUSP00000099302
Gene: ENSMUSG00000039230

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 null
Transcript: ENSMUST00000106093
Coding Region Coverage
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,629,578 (GRCm39) C214S possibly damaging Het
Ankrd26 A T 6: 118,536,068 (GRCm39) V122E probably damaging Het
Blnk T C 19: 40,922,950 (GRCm39) K389R probably benign Het
Cdcp3 A T 7: 130,848,432 (GRCm39) N862I probably damaging Het
Cdh11 T A 8: 103,391,261 (GRCm39) Q325L probably damaging Het
Cep112 T C 11: 108,750,235 (GRCm39) probably null Het
Cmtr2 T A 8: 110,949,484 (GRCm39) I598N possibly damaging Het
Col1a2 A C 6: 4,533,891 (GRCm39) E857D unknown Het
Col2a1 G A 15: 97,892,759 (GRCm39) P237L unknown Het
Commd2 G A 3: 57,558,143 (GRCm39) T66M probably benign Het
Cyp2c50 A T 19: 40,080,728 (GRCm39) K241N probably benign Het
Fbxo2 A G 4: 148,250,163 (GRCm39) N231S probably benign Het
Grm5 T C 7: 87,251,773 (GRCm39) S8P probably benign Het
Ip6k1 A G 9: 107,923,082 (GRCm39) T405A probably benign Het
Kel G T 6: 41,665,051 (GRCm39) probably null Het
Lin54 T C 5: 100,633,466 (GRCm39) T73A probably benign Het
Nek1 T A 8: 61,577,250 (GRCm39) V1052D possibly damaging Het
Or4p22 T A 2: 88,317,592 (GRCm39) I172K probably damaging Het
Or6c6 T A 10: 129,186,519 (GRCm39) L29H probably damaging Het
Pcid2 T C 8: 13,140,660 (GRCm39) D155G probably damaging Het
Ptchd1 T C X: 154,357,820 (GRCm39) T462A possibly damaging Het
Pxdn A G 12: 30,032,753 (GRCm39) E179G probably benign Het
Rfc2 T C 5: 134,618,243 (GRCm39) L82P probably damaging Het
Sh3rf2 T C 18: 42,272,676 (GRCm39) probably null Het
Sis A T 3: 72,848,358 (GRCm39) W639R probably damaging Het
Tert G A 13: 73,776,416 (GRCm39) R389H possibly damaging Het
Tns3 C T 11: 8,442,617 (GRCm39) S582N probably benign Het
Tssk2 C T 16: 17,716,822 (GRCm39) T75I probably benign Het
Txnl4a C T 18: 80,261,956 (GRCm39) T64I probably benign Het
Xpot T C 10: 121,438,243 (GRCm39) D782G probably benign 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
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
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
Posted On 2013-10-07