Incidental Mutation 'R6862:Cct6b'
ID 535712
Institutional Source Beutler Lab
Gene Symbol Cct6b
Ensembl Gene ENSMUSG00000020698
Gene Name chaperonin containing TCP1 subunit 6B
Synonyms CCTzeta-2, Cctz-2
MMRRC Submission 045026-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.384) question?
Stock # R6862 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 82610076-82655147 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82610785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 500 (V500E)
Ref Sequence ENSEMBL: ENSMUSP00000021040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021040] [ENSMUST00000100722]
AlphaFold Q61390
Predicted Effect probably damaging
Transcript: ENSMUST00000021040
AA Change: V500E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021040
Gene: ENSMUSG00000020698
AA Change: V500E

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 30 526 1.1e-161 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100722
AA Change: V461E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098288
Gene: ENSMUSG00000020698
AA Change: V461E

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 4 486 9.7e-140 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a molecular chaperone that is a member of the chaperonin-containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik C T 3: 137,891,949 (GRCm39) probably benign Het
Adgra2 T A 8: 27,603,465 (GRCm39) C417S probably damaging Het
Adgra2 C A 8: 27,603,464 (GRCm39) H416Q probably benign Het
Aff3 C A 1: 38,445,578 (GRCm39) R307L possibly damaging Het
Arhgap17 T C 7: 122,921,124 (GRCm39) D121G probably damaging Het
Ascc3 G T 10: 50,725,742 (GRCm39) R2155I probably null Het
Ccdc115 C T 1: 34,478,364 (GRCm39) S19N possibly damaging Het
Ccser2 T C 14: 36,662,038 (GRCm39) N382S probably benign Het
Cenpo A T 12: 4,266,539 (GRCm39) Y190N probably damaging Het
Cfh T A 1: 140,030,100 (GRCm39) K924N probably damaging Het
Col4a1 A G 8: 11,252,926 (GRCm39) probably benign Het
Coro1b T C 19: 4,200,770 (GRCm39) V234A probably benign Het
Crot T C 5: 9,039,641 (GRCm39) K69E probably damaging Het
Cyp2d11 A T 15: 82,274,339 (GRCm39) H347Q probably benign Het
Efcab3 A T 11: 104,612,284 (GRCm39) K636* probably null Het
Fbn2 T A 18: 58,257,393 (GRCm39) I325F probably benign Het
Fbxw4 T A 19: 45,571,187 (GRCm39) R41S probably benign Het
Fn1 T A 1: 71,653,066 (GRCm39) I1308F probably benign Het
Frem1 C A 4: 82,930,251 (GRCm39) E232* probably null Het
Gabrg3 T C 7: 56,423,059 (GRCm39) Q213R possibly damaging Het
Garin3 G A 11: 46,298,418 (GRCm39) G574D possibly damaging Het
Gsdme A T 6: 50,204,378 (GRCm39) V193E probably damaging Het
Hadha C A 5: 30,352,977 (GRCm39) probably null Het
Hdgfl2 C A 17: 56,406,211 (GRCm39) A533E probably damaging Het
Hivep2 T C 10: 14,006,327 (GRCm39) F975S probably damaging Het
Htatip2 T A 7: 49,420,666 (GRCm39) S171T probably benign Het
Ift57 A T 16: 49,584,167 (GRCm39) I307F possibly damaging Het
Il22 A T 10: 118,041,715 (GRCm39) R110W probably benign Het
Kcnk13 G T 12: 100,027,948 (GRCm39) R341L probably damaging Het
Kif2b G A 11: 91,466,741 (GRCm39) T514M probably damaging Het
Kmt2c A C 5: 25,515,515 (GRCm39) I2776S probably damaging Het
Ly9 T C 1: 171,428,723 (GRCm39) D189G probably benign Het
Mal2 T C 15: 54,451,753 (GRCm39) V58A probably damaging Het
Mettl21e T A 1: 44,245,526 (GRCm39) N240I probably benign Het
Msantd5f1 A G 4: 73,605,621 (GRCm39) N344S probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Nacc1 G A 8: 85,399,844 (GRCm39) R458C probably damaging Het
Ncapd3 T C 9: 26,942,105 (GRCm39) C14R probably damaging Het
Obscn G T 11: 58,886,279 (GRCm39) probably benign Het
Or13c3 A G 4: 52,855,695 (GRCm39) F273L probably benign Het
Or1j4 A T 2: 36,740,234 (GRCm39) M59L possibly damaging Het
Or8d23 T A 9: 38,841,772 (GRCm39) F102I possibly damaging Het
Parp12 T C 6: 39,088,670 (GRCm39) I189V probably benign Het
Pde4dip C A 3: 97,674,340 (GRCm39) R192L possibly damaging Het
Pdlim4 C A 11: 53,946,674 (GRCm39) E204D probably damaging Het
Phf3 T C 1: 30,853,063 (GRCm39) Q1049R probably damaging Het
Prr14l A G 5: 32,985,103 (GRCm39) L1464P probably damaging Het
Psg25 C T 7: 18,255,323 (GRCm39) V398I probably benign Het
Ptprq T A 10: 107,522,086 (GRCm39) N622Y probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Tex36 A G 7: 133,189,002 (GRCm39) L190P probably benign Het
Tk1 A G 11: 117,707,320 (GRCm39) C156R probably damaging Het
Tmem144 T A 3: 79,739,406 (GRCm39) M126L probably benign Het
Tmem208 G A 8: 106,054,862 (GRCm39) probably null Het
Trappc13 T C 13: 104,286,660 (GRCm39) Q199R probably damaging Het
Trim30b T A 7: 104,012,960 (GRCm39) K156N probably damaging Het
Trps1 A G 15: 50,695,001 (GRCm39) probably null Het
Washc4 T A 10: 83,394,757 (GRCm39) F329Y possibly damaging Het
Zbed5 T G 5: 129,932,026 (GRCm39) D658E probably benign Het
Zfyve28 T G 5: 34,445,449 (GRCm39) K11N probably benign Het
Zp1 C T 19: 10,893,877 (GRCm39) V443I possibly damaging Het
Other mutations in Cct6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02227:Cct6b APN 11 82,632,217 (GRCm39) missense probably damaging 1.00
IGL02606:Cct6b APN 11 82,627,271 (GRCm39) missense probably damaging 1.00
IGL02707:Cct6b APN 11 82,645,780 (GRCm39) splice site probably benign
IGL03081:Cct6b APN 11 82,654,995 (GRCm39) nonsense probably null
R0032:Cct6b UTSW 11 82,644,469 (GRCm39) missense possibly damaging 0.87
R0395:Cct6b UTSW 11 82,630,506 (GRCm39) missense probably benign
R0556:Cct6b UTSW 11 82,610,270 (GRCm39) splice site probably benign
R0631:Cct6b UTSW 11 82,627,914 (GRCm39) splice site probably null
R1456:Cct6b UTSW 11 82,644,446 (GRCm39) splice site probably benign
R3713:Cct6b UTSW 11 82,651,183 (GRCm39) missense probably damaging 1.00
R4791:Cct6b UTSW 11 82,632,830 (GRCm39) splice site probably null
R5154:Cct6b UTSW 11 82,630,521 (GRCm39) missense probably damaging 1.00
R5256:Cct6b UTSW 11 82,655,046 (GRCm39) missense probably damaging 0.98
R5338:Cct6b UTSW 11 82,653,015 (GRCm39) missense possibly damaging 0.94
R5455:Cct6b UTSW 11 82,645,943 (GRCm39) missense probably benign 0.04
R5560:Cct6b UTSW 11 82,632,239 (GRCm39) missense probably damaging 1.00
R5616:Cct6b UTSW 11 82,632,175 (GRCm39) missense probably damaging 1.00
R5644:Cct6b UTSW 11 82,613,281 (GRCm39) missense probably benign 0.02
R7960:Cct6b UTSW 11 82,632,221 (GRCm39) missense possibly damaging 0.94
R8240:Cct6b UTSW 11 82,614,650 (GRCm39) missense probably damaging 1.00
R8785:Cct6b UTSW 11 82,632,157 (GRCm39) missense probably damaging 1.00
R8943:Cct6b UTSW 11 82,654,959 (GRCm39) utr 5 prime probably benign
R9527:Cct6b UTSW 11 82,630,447 (GRCm39) critical splice donor site probably null
R9674:Cct6b UTSW 11 82,645,838 (GRCm39) missense probably damaging 1.00
X0060:Cct6b UTSW 11 82,632,136 (GRCm39) missense probably benign 0.00
Z1176:Cct6b UTSW 11 82,654,891 (GRCm39) start gained probably benign
Z1176:Cct6b UTSW 11 82,614,765 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCCTGCTGCAAACACAATG -3'
(R):5'- AAGAGCCTTGGACTGCGAAG -3'

Sequencing Primer
(F):5'- CTGCTGCAAACACAATGTGAAG -3'
(R):5'- CTTGGACTGCGAAGGTGCTC -3'
Posted On 2018-10-18