Incidental Mutation 'IGL02891:Tbcb'
ID 363200
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbcb
Ensembl Gene ENSMUSG00000006095
Gene Name tubulin folding cofactor B
Synonyms 2410007D12Rik, Ckap1
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # IGL02891
Quality Score
Status
Chromosome 7
Chromosomal Location 29923554-29931622 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 29932859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006254] [ENSMUST00000019882] [ENSMUST00000108192] [ENSMUST00000108193] [ENSMUST00000149654] [ENSMUST00000189482]
AlphaFold Q9D1E6
Predicted Effect probably benign
Transcript: ENSMUST00000006254
SMART Domains Protein: ENSMUSP00000006254
Gene: ENSMUSG00000006095

DomainStartEndE-ValueType
Pfam:Ubiquitin_2 10 94 9.6e-30 PFAM
low complexity region 135 152 N/A INTRINSIC
CAP_GLY 161 230 4.76e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000019882
SMART Domains Protein: ENSMUSP00000019882
Gene: ENSMUSG00000019738

DomainStartEndE-ValueType
RPOL9 15 68 1.22e-24 SMART
ZnF_C2C2 84 125 2.18e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108192
SMART Domains Protein: ENSMUSP00000103827
Gene: ENSMUSG00000019738

DomainStartEndE-ValueType
RPOL9 1 46 5.45e-13 SMART
ZnF_C2C2 62 103 2.18e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108193
SMART Domains Protein: ENSMUSP00000103828
Gene: ENSMUSG00000019738

DomainStartEndE-ValueType
Pfam:RNA_POL_M_15KD 14 41 1.8e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138118
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150841
Predicted Effect probably benign
Transcript: ENSMUST00000149654
SMART Domains Protein: ENSMUSP00000116741
Gene: ENSMUSG00000019738

DomainStartEndE-ValueType
RPOL9 1 46 5.45e-13 SMART
Blast:ZnF_C2C2 62 83 2e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000189482
SMART Domains Protein: ENSMUSP00000140811
Gene: ENSMUSG00000100512

DomainStartEndE-ValueType
ZnF_C2H2 69 91 3.2e-4 SMART
ZnF_C2H2 97 119 1.4e-6 SMART
ZnF_C2H2 125 148 3.2e-5 SMART
ZnF_C2H2 164 186 5.3e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,500,340 (GRCm39) S1284P probably damaging Het
Adgrf1 T C 17: 43,622,052 (GRCm39) V763A probably damaging Het
Adhfe1 T A 1: 9,628,396 (GRCm39) M256K probably benign Het
Afg2a T A 3: 37,480,341 (GRCm39) V130D probably damaging Het
Chit1 A G 1: 134,073,048 (GRCm39) S125G probably benign Het
Clu T A 14: 66,213,433 (GRCm39) F273Y probably damaging Het
Dgki T C 6: 36,890,676 (GRCm39) D869G probably benign Het
Elapor1 C T 3: 108,371,708 (GRCm39) R672Q probably benign Het
Emx1 T C 6: 85,181,067 (GRCm39) probably benign Het
Ercc2 T G 7: 19,127,211 (GRCm39) F316C probably damaging Het
Fam81a A G 9: 70,017,558 (GRCm39) L129P probably damaging Het
Fat4 T A 3: 39,005,422 (GRCm39) N1940K probably damaging Het
Fbxl13 G A 5: 21,727,098 (GRCm39) probably benign Het
Ift70b C T 2: 75,767,404 (GRCm39) V450M possibly damaging Het
Kcnt2 T A 1: 140,502,544 (GRCm39) D879E probably damaging Het
Kti12 T G 4: 108,705,730 (GRCm39) S215A probably benign Het
Lama1 G A 17: 68,111,531 (GRCm39) G2261R probably damaging Het
Ntn5 G T 7: 45,335,648 (GRCm39) L26F probably damaging Het
Nwd2 A G 5: 63,882,570 (GRCm39) N74S possibly damaging Het
Or12d17 T A 17: 37,777,835 (GRCm39) V246E probably damaging Het
Or2d3c A G 7: 106,526,288 (GRCm39) V126A probably damaging Het
Phactr4 T C 4: 132,114,334 (GRCm39) D20G probably damaging Het
Ptpn23 G A 9: 110,217,088 (GRCm39) Q923* probably null Het
Rfx6 T A 10: 51,599,942 (GRCm39) S333T possibly damaging Het
Skint10 T A 4: 112,586,023 (GRCm39) I198F probably benign Het
Taf3 G A 2: 9,926,038 (GRCm39) P647L probably damaging Het
Tmem63c T C 12: 87,118,042 (GRCm39) F216L probably benign Het
Uba5 A G 9: 103,931,392 (GRCm39) probably benign Het
Usp34 C A 11: 23,437,166 (GRCm39) Q217K probably benign Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vmn2r99 G A 17: 19,598,952 (GRCm39) W212* probably null Het
Zfp687 G T 3: 94,919,257 (GRCm39) P172T probably damaging Het
Other mutations in Tbcb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01453:Tbcb APN 7 29,930,627 (GRCm39) splice site probably null
IGL03123:Tbcb APN 7 29,926,261 (GRCm39) splice site probably benign
R1778:Tbcb UTSW 7 29,931,037 (GRCm39) missense probably benign 0.07
R1845:Tbcb UTSW 7 29,923,924 (GRCm39) missense possibly damaging 0.94
R4360:Tbcb UTSW 7 29,926,460 (GRCm39) missense probably benign 0.01
R4579:Tbcb UTSW 7 29,931,019 (GRCm39) missense possibly damaging 0.78
R8471:Tbcb UTSW 7 29,931,100 (GRCm39) missense probably benign 0.00
R8535:Tbcb UTSW 7 29,926,421 (GRCm39) missense probably benign 0.01
R9562:Tbcb UTSW 7 29,930,549 (GRCm39) critical splice donor site probably null
R9565:Tbcb UTSW 7 29,930,549 (GRCm39) critical splice donor site probably null
RF021:Tbcb UTSW 7 29,923,771 (GRCm39) missense probably damaging 1.00
X0025:Tbcb UTSW 7 29,926,442 (GRCm39) missense probably benign
Posted On 2015-12-18