Incidental Mutation 'IGL00556:Cct4'
ID 12519
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cct4
Ensembl Gene ENSMUSG00000007739
Gene Name chaperonin containing TCP1 subunit 4
Synonyms T complex protein 1, delta, Cctd, 2610204B21Rik, TCP-1 delta, A45
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL00556
Quality Score
Chromosome 11
Chromosomal Location 22940593-22953336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22947656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 233 (V233E)
Ref Sequence ENSEMBL: ENSMUSP00000133523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020562] [ENSMUST00000173853] [ENSMUST00000173867] [ENSMUST00000174047] [ENSMUST00000174659]
AlphaFold P80315
Predicted Effect possibly damaging
Transcript: ENSMUST00000020562
AA Change: V203E

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020562
Gene: ENSMUSG00000007739
AA Change: V203E

Pfam:Cpn60_TCP1 61 509 1.6e-122 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145912
Predicted Effect probably benign
Transcript: ENSMUST00000173853
SMART Domains Protein: ENSMUSP00000133677
Gene: ENSMUSG00000007739

PDB:4B2T|D 1 44 2e-11 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000173867
AA Change: V233E

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133523
Gene: ENSMUSG00000007739
AA Change: V233E

Pfam:Cpn60_TCP1 44 539 1.9e-159 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174047
SMART Domains Protein: ENSMUSP00000134248
Gene: ENSMUSG00000007739

Pfam:Cpn60_TCP1 44 93 1.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174244
Predicted Effect probably benign
Transcript: ENSMUST00000174659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174746
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The chaperonin containing TCP1 (MIM 186980) complex (CCT), also called the TCP1 ring complex, consists of 2 back-to-back rings, each containing 8 unique but homologous subunits, such as CCT4. CCT assists the folding of newly translated polypeptide substrates through multiple rounds of ATP-driven release and rebinding of partially folded intermediate forms. Substrates of CCT include the cytoskeletal proteins actin (see MIM 102560) and tubulin (see MIM 191130), as well as alpha-transducin (MIM 139330) (Won et al., 1998 [PubMed 9819444]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,392,916 (GRCm39) I108V probably benign Het
Atad2 A G 15: 57,963,476 (GRCm39) I723T probably damaging Het
Ces1a A G 8: 93,771,687 (GRCm39) Y37H probably benign Het
Cgnl1 C T 9: 71,563,338 (GRCm39) R863Q probably benign Het
Dnaaf9 T C 2: 130,626,377 (GRCm39) D225G probably benign Het
Fam13b T C 18: 34,630,488 (GRCm39) D90G probably damaging Het
Fhdc1 A T 3: 84,364,549 (GRCm39) D232E possibly damaging Het
Gm6370 A G 5: 146,430,723 (GRCm39) T303A probably benign Het
Gsdmc2 A G 15: 63,700,120 (GRCm39) probably benign Het
Kif13b T A 14: 64,982,337 (GRCm39) N516K probably damaging Het
Med1 A G 11: 98,046,510 (GRCm39) probably benign Het
Med4 T C 14: 73,754,707 (GRCm39) M190T probably damaging Het
Myo15b T C 11: 115,782,742 (GRCm39) V1534A possibly damaging Het
Neb T C 2: 52,081,961 (GRCm39) R1722G probably benign Het
Obp2b A T 2: 25,628,593 (GRCm39) I116F probably damaging Het
Rims2 A G 15: 39,320,070 (GRCm39) probably null Het
Siglecg A T 7: 43,061,219 (GRCm39) I431F probably benign Het
Thap12 T A 7: 98,365,344 (GRCm39) V504D possibly damaging Het
Tlr7 A C X: 166,091,471 (GRCm39) M5R possibly damaging Het
Tubgcp6 A G 15: 88,985,165 (GRCm39) V1641A probably damaging Het
Ugt2b1 T A 5: 87,074,055 (GRCm39) L101F probably benign Het
Xdh A T 17: 74,191,430 (GRCm39) *1336R probably null Het
Other mutations in Cct4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02076:Cct4 APN 11 22,952,394 (GRCm39) missense probably damaging 1.00
IGL02211:Cct4 APN 11 22,943,327 (GRCm39) intron probably benign
IGL02416:Cct4 APN 11 22,952,868 (GRCm39) missense probably damaging 1.00
R0030:Cct4 UTSW 11 22,951,357 (GRCm39) unclassified probably benign
R0255:Cct4 UTSW 11 22,949,073 (GRCm39) missense probably damaging 1.00
R0494:Cct4 UTSW 11 22,946,014 (GRCm39) missense probably benign
R1244:Cct4 UTSW 11 22,946,417 (GRCm39) missense probably benign 0.02
R1276:Cct4 UTSW 11 22,952,171 (GRCm39) missense probably damaging 1.00
R1401:Cct4 UTSW 11 22,944,333 (GRCm39) missense probably damaging 1.00
R1465:Cct4 UTSW 11 22,952,922 (GRCm39) missense probably damaging 1.00
R1465:Cct4 UTSW 11 22,952,922 (GRCm39) missense probably damaging 1.00
R1809:Cct4 UTSW 11 22,947,615 (GRCm39) missense probably benign 0.00
R3907:Cct4 UTSW 11 22,951,560 (GRCm39) missense probably benign 0.00
R4640:Cct4 UTSW 11 22,952,297 (GRCm39) missense probably benign 0.04
R4785:Cct4 UTSW 11 22,952,866 (GRCm39) missense probably damaging 1.00
R4836:Cct4 UTSW 11 22,952,898 (GRCm39) missense probably benign 0.20
R5846:Cct4 UTSW 11 22,951,354 (GRCm39) unclassified probably benign
R7193:Cct4 UTSW 11 22,947,111 (GRCm39) missense probably benign 0.00
R7214:Cct4 UTSW 11 22,940,616 (GRCm39) unclassified probably benign
R7336:Cct4 UTSW 11 22,951,564 (GRCm39) missense possibly damaging 0.85
R7419:Cct4 UTSW 11 22,946,420 (GRCm39) missense probably benign 0.01
R7725:Cct4 UTSW 11 22,940,814 (GRCm39) missense probably benign
R7951:Cct4 UTSW 11 22,940,868 (GRCm39) missense probably benign 0.38
R8003:Cct4 UTSW 11 22,946,040 (GRCm39) critical splice donor site probably null
R8201:Cct4 UTSW 11 22,949,115 (GRCm39) missense probably damaging 0.96
R8429:Cct4 UTSW 11 22,946,030 (GRCm39) missense probably damaging 1.00
R9090:Cct4 UTSW 11 22,951,389 (GRCm39) missense probably benign
R9271:Cct4 UTSW 11 22,951,389 (GRCm39) missense probably benign
R9790:Cct4 UTSW 11 22,949,070 (GRCm39) missense probably damaging 1.00
R9791:Cct4 UTSW 11 22,949,070 (GRCm39) missense probably damaging 1.00
X0019:Cct4 UTSW 11 22,947,118 (GRCm39) missense possibly damaging 0.74
Posted On 2012-12-06