Incidental Mutation 'R1244:Cct4'
ID 152097
Institutional Source Beutler Lab
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
MMRRC Submission 039311-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R1244 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 22940593-22953336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22946417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 131 (E131G)
Ref Sequence ENSEMBL: ENSMUSP00000020562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020562] [ENSMUST00000173853] [ENSMUST00000173867] [ENSMUST00000174047] [ENSMUST00000174659]
AlphaFold P80315
Predicted Effect probably benign
Transcript: ENSMUST00000020562
AA Change: E131G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000020562
Gene: ENSMUSG00000007739
AA Change: E131G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
PDB:4B2T|D 1 44 2e-11 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000173867
AA Change: E161G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000133523
Gene: ENSMUSG00000007739
AA Change: E161G

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

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 44 93 1.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174244
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174746
Predicted Effect probably benign
Transcript: ENSMUST00000174659
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C T 12: 71,262,918 (GRCm39) T1417I probably benign Het
Abca14 G A 7: 119,815,561 (GRCm39) A270T probably benign Het
Abtb3 C A 10: 85,223,227 (GRCm39) T12K unknown Het
Ash2l T C 8: 26,307,449 (GRCm39) S529G probably damaging Het
Atp13a3 T C 16: 30,180,654 (GRCm39) Y125C probably benign Het
Calca A G 7: 114,232,962 (GRCm39) Y96H probably damaging Het
Cd84 A G 1: 171,679,397 (GRCm39) D25G probably damaging Het
Chd9 A G 8: 91,749,557 (GRCm39) D1728G probably damaging Het
Cyp39a1 A T 17: 44,060,836 (GRCm39) K461N probably benign Het
Ddx50 T A 10: 62,478,703 (GRCm39) Q161L probably damaging Het
Golga5 A G 12: 102,438,554 (GRCm39) T90A probably benign Het
Heatr3 A G 8: 88,868,367 (GRCm39) E39G possibly damaging Het
Hipk3 G A 2: 104,263,601 (GRCm39) R905W probably damaging Het
Hsd11b1 T G 1: 192,906,068 (GRCm39) M175L probably benign Het
Htra1 G A 7: 130,586,799 (GRCm39) V461I possibly damaging Het
Il10 A G 1: 130,951,953 (GRCm39) D162G probably damaging Het
Mapre2 A G 18: 23,986,774 (GRCm39) K62R probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Ogfod1 A G 8: 94,763,999 (GRCm39) D28G probably benign Het
Or5an10 A T 19: 12,275,860 (GRCm39) I212N probably damaging Het
Perm1 C T 4: 156,302,340 (GRCm39) R295C probably benign Het
Ppp4c A G 7: 126,385,452 (GRCm39) V119A probably damaging Het
Scn2a T C 2: 65,593,999 (GRCm39) I1616T probably damaging Het
Sipa1l1 A G 12: 82,472,190 (GRCm39) N1390S probably benign Het
Sub1 A T 15: 11,991,130 (GRCm39) V37E possibly damaging Het
Tbc1d17 A T 7: 44,493,822 (GRCm39) V267E probably damaging Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vmn1r77 A T 7: 11,775,847 (GRCm39) T140S possibly damaging Het
Vmn2r15 A T 5: 109,441,092 (GRCm39) Y255* probably null Het
Other mutations in Cct4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:Cct4 APN 11 22,947,656 (GRCm39) missense possibly damaging 0.63
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
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
Predicted Primers PCR Primer
(F):5'- GGCTCTCTTTTAGACTCCTGTACCAAAC -3'
(R):5'- ACTTTCATCACCGCATTGACACTCATT -3'

Sequencing Primer
(F):5'- AGACTCCTGTACCAAACTTCTG -3'
(R):5'- atctgcttgcctgcacc -3'
Posted On 2014-01-29