Incidental Mutation 'R3907:Cct4'
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ID310265
Institutional Source Beutler Lab
Gene Symbol Cct4
Ensembl Gene ENSMUSG00000007739
Gene Namechaperonin containing Tcp1, subunit 4 (delta)
Synonyms2610204B21Rik, A45, T complex protein 1, delta, Cctd, TCP-1 delta
MMRRC Submission 040908-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.956) question?
Stock #R3907 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location22990519-23003780 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23001560 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 376 (I376V)
Ref Sequence ENSEMBL: ENSMUSP00000133523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020562] [ENSMUST00000173867] [ENSMUST00000174047] [ENSMUST00000174659]
Predicted Effect probably benign
Transcript: ENSMUST00000020562
AA Change: I346V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000020562
Gene: ENSMUSG00000007739
AA Change: I346V

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 61 509 1.6e-122 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145912
Predicted Effect probably benign
Transcript: ENSMUST00000173867
AA Change: I376V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000133523
Gene: ENSMUSG00000007739
AA Change: I376V

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 probably benign
Transcript: ENSMUST00000174659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174746
Meta Mutation Damage Score 0.1916 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency 97% (56/58)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik C T 2: 130,736,576 A663T probably damaging Het
Adamts3 C A 5: 89,861,355 G150C probably damaging Het
Ampd3 A G 7: 110,793,670 D215G possibly damaging Het
Ank2 A G 3: 127,016,898 L513P probably damaging Het
Apba1 T C 19: 23,937,506 I690T probably damaging Het
Arid1a T C 4: 133,692,912 probably benign Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Asns C T 6: 7,682,270 probably null Het
Aspg T A 12: 112,112,259 Y57* probably null Het
Asph T C 4: 9,474,934 K680R probably benign Het
Atp2b4 A T 1: 133,738,586 S243T probably damaging Het
Cacna1s T A 1: 136,084,269 M483K probably damaging Het
Car4 G A 11: 84,964,357 V141M probably damaging Het
Chrm4 C T 2: 91,927,739 A164V probably damaging Het
Csf3r A T 4: 126,034,447 D291V probably benign Het
Dcaf6 A T 1: 165,424,380 C58* probably null Het
Ddi2 T C 4: 141,684,281 D440G probably benign Het
Defb4 A T 8: 19,201,261 Q48L possibly damaging Het
Duox2 C T 2: 122,283,060 probably null Het
E130308A19Rik C T 4: 59,752,393 T502I probably benign Het
Ephb1 A G 9: 102,001,726 C522R probably benign Het
Fam76a T C 4: 132,916,121 K101E probably damaging Het
Fat1 G C 8: 45,023,035 R1706T probably benign Het
Fn1 C T 1: 71,607,913 G1482R probably damaging Het
Gm10110 T C 14: 89,898,147 noncoding transcript Het
Gphn T A 12: 78,493,942 probably benign Het
Hars A T 18: 36,782,716 D48E probably benign Het
Hmgcll1 G A 9: 76,072,661 R111H probably benign Het
Ighv3-4 A G 12: 114,253,918 S18P probably damaging Het
Iws1 G A 18: 32,079,920 E134K possibly damaging Het
Kcnj4 G T 15: 79,485,745 H11Q probably benign Het
Krt16 A G 11: 100,247,163 V329A possibly damaging Het
Loxhd1 A T 18: 77,408,768 M1575L possibly damaging Het
Mapkapk2 A T 1: 131,056,914 S234T probably damaging Het
Mum1 T C 10: 80,238,316 V401A probably damaging Het
Mxd1 G T 6: 86,650,960 Q199K probably benign Het
Nlrp5 T A 7: 23,433,646 D905E possibly damaging Het
Olfr1222 A C 2: 89,125,583 Y49* probably null Het
Olfr5 A T 7: 6,480,679 V159D probably damaging Het
Otoa A T 7: 121,125,565 Q489L probably damaging Het
Pced1b T C 15: 97,384,550 S157P probably damaging Het
Ppp1r16b T C 2: 158,761,490 I345T probably benign Het
Prrt4 G T 6: 29,177,174 L199M probably damaging Het
Ptpn6 T C 6: 124,725,276 D347G possibly damaging Het
Rcan1 A G 16: 92,466,029 probably benign Het
Rif1 C T 2: 52,112,545 L2004F probably benign Het
Rnf185 A G 11: 3,426,681 probably benign Het
Shank2 C T 7: 144,409,576 P307L probably damaging Het
Slc19a3 G A 1: 83,014,813 R396C possibly damaging Het
Stn1 T C 19: 47,507,823 D321G probably damaging Het
Taar7a T C 10: 23,992,559 Y308C probably benign Het
Tespa1 T C 10: 130,356,797 probably benign Het
Tmcc2 T C 1: 132,360,638 D359G probably damaging Het
Trhde C T 10: 114,800,696 G202E possibly damaging Het
Trip12 T C 1: 84,732,106 T469A possibly damaging Het
Trip4 A G 9: 65,833,426 I533T probably benign Het
Tsc22d1 T C 14: 76,416,543 I154T probably damaging Het
Ttn C A 2: 76,903,342 probably benign Het
Ugt8a T C 3: 125,914,982 T160A possibly damaging Het
Usp54 A T 14: 20,586,113 S288T probably damaging Het
Utrn C T 10: 12,710,182 probably benign Het
Other mutations in Cct4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:Cct4 APN 11 22997656 missense possibly damaging 0.63
IGL02076:Cct4 APN 11 23002394 missense probably damaging 1.00
IGL02211:Cct4 APN 11 22993327 intron probably benign
IGL02416:Cct4 APN 11 23002868 missense probably damaging 1.00
R0030:Cct4 UTSW 11 23001357 unclassified probably benign
R0255:Cct4 UTSW 11 22999073 missense probably damaging 1.00
R0494:Cct4 UTSW 11 22996014 missense probably benign
R1244:Cct4 UTSW 11 22996417 missense probably benign 0.02
R1276:Cct4 UTSW 11 23002171 missense probably damaging 1.00
R1401:Cct4 UTSW 11 22994333 missense probably damaging 1.00
R1465:Cct4 UTSW 11 23002922 missense probably damaging 1.00
R1465:Cct4 UTSW 11 23002922 missense probably damaging 1.00
R1809:Cct4 UTSW 11 22997615 missense probably benign 0.00
R4640:Cct4 UTSW 11 23002297 missense probably benign 0.04
R4785:Cct4 UTSW 11 23002866 missense probably damaging 1.00
R4836:Cct4 UTSW 11 23002898 missense probably benign 0.20
R5846:Cct4 UTSW 11 23001354 unclassified probably benign
R7193:Cct4 UTSW 11 22997111 missense probably benign 0.00
R7214:Cct4 UTSW 11 22990616 unclassified probably benign
R7336:Cct4 UTSW 11 23001564 missense possibly damaging 0.85
R7419:Cct4 UTSW 11 22996420 missense probably benign 0.01
R7725:Cct4 UTSW 11 22990814 missense probably benign
R8003:Cct4 UTSW 11 22996040 critical splice donor site probably null
R8201:Cct4 UTSW 11 22999115 missense probably damaging 0.96
X0019:Cct4 UTSW 11 22997118 missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- CACATTGACCAGTTCACTGCTG -3'
(R):5'- CCAGCCTCAAATTAAAGTCTTCAG -3'

Sequencing Primer
(F):5'- GACCAGTTCACTGCTGACATG -3'
(R):5'- AAGTTTGATCCCTGGGACCTACATG -3'
Posted On2015-04-17