Incidental Mutation 'IGL02076:Cct4'
ID 185983
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: 0.962) question?
Stock # IGL02076
Quality Score
Status
Chromosome 11
Chromosomal Location 22940593-22953336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22952394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 495 (V495A)
Ref Sequence ENSEMBL: ENSMUSP00000133523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020562] [ENSMUST00000173867]
AlphaFold P80315
Predicted Effect probably damaging
Transcript: ENSMUST00000020562
AA Change: V465A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020562
Gene: ENSMUSG00000007739
AA Change: V465A

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 61 509 1.6e-122 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145912
Predicted Effect probably damaging
Transcript: ENSMUST00000173867
AA Change: V495A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133523
Gene: ENSMUSG00000007739
AA Change: V495A

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 44 539 1.9e-159 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174244
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174689
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,186,900 (GRCm39) Y407C probably damaging Het
Capn5 T A 7: 97,780,950 (GRCm39) K276* probably null Het
Dapk3 A G 10: 81,026,131 (GRCm39) K141E probably damaging Het
Dnah2 T C 11: 69,313,385 (GRCm39) N4264S probably damaging Het
Dok1 A G 6: 83,009,812 (GRCm39) L99P probably damaging Het
Ebf3 A G 7: 136,833,030 (GRCm39) V215A possibly damaging Het
Efnb2 A G 8: 8,710,488 (GRCm39) S43P probably benign Het
Jhy G A 9: 40,828,674 (GRCm39) Q411* probably null Het
Krt73 G A 15: 101,708,370 (GRCm39) T229I probably damaging Het
Mroh8 A G 2: 157,113,882 (GRCm39) probably null Het
Olfm1 A G 2: 28,112,637 (GRCm39) T223A probably damaging Het
Oprk1 T A 1: 5,672,512 (GRCm39) D216E probably damaging Het
Or4b1d T A 2: 89,969,159 (GRCm39) E108V probably damaging Het
Or8g23 A G 9: 38,971,881 (GRCm39) L27P probably damaging Het
Pim1 T A 17: 29,712,777 (GRCm39) I230N probably damaging Het
Ppm1f A C 16: 16,732,035 (GRCm39) T162P possibly damaging Het
Rbbp8 T C 18: 11,838,876 (GRCm39) Y186H probably damaging Het
Sema4a C T 3: 88,357,829 (GRCm39) R225H probably damaging Het
Slc15a2 A C 16: 36,582,743 (GRCm39) F215C probably damaging Het
Slc25a1 A G 16: 17,745,490 (GRCm39) C41R possibly damaging Het
Stil C A 4: 114,880,834 (GRCm39) H459Q probably benign Het
Tbc1d32 A G 10: 55,964,499 (GRCm39) I900T possibly damaging Het
Tmem33 T C 5: 67,443,446 (GRCm39) F208L probably damaging Het
Utp25 T C 1: 192,812,367 (GRCm39) H31R probably damaging Het
Vmn2r72 A G 7: 85,387,575 (GRCm39) V663A probably damaging Het
Other mutations in Cct4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:Cct4 APN 11 22,947,656 (GRCm39) missense possibly damaging 0.63
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 2014-05-07