Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00556:Cct4'

12519

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cct4

Ensembl Gene

ENSMUSG00000007739

Gene Name

chaperonin containing Tcp1, subunit 4 (delta)

Synonyms

2610204B21Rik, A45, T complex protein 1, delta, Cctd, TCP-1 delta

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

IGL00556

Quality Score

Status

Chromosome

Chromosomal Location

22990519-23003780 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22997656 bp

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]

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	44	539	1.9e-159	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174047

SMART Domains

Protein: ENSMUSP00000134248
Gene: ENSMUSG00000007739

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,784,457	D225G	probably benign	Het
Abca12	T	C	1: 71,353,757	I108V	probably benign	Het
Atad2	A	G	15: 58,100,080	I723T	probably damaging	Het
Ces1a	A	G	8: 93,045,059	Y37H	probably benign	Het
Cgnl1	C	T	9: 71,656,056	R863Q	probably benign	Het
Fam13b	T	C	18: 34,497,435	D90G	probably damaging	Het
Fhdc1	A	T	3: 84,457,242	D232E	possibly damaging	Het
Gm6370	A	G	5: 146,493,913	T303A	probably benign	Het
Gsdmc2	A	G	15: 63,828,271		probably benign	Het
Kif13b	T	A	14: 64,744,888	N516K	probably damaging	Het
Med1	A	G	11: 98,155,684		probably benign	Het
Med4	T	C	14: 73,517,267	M190T	probably damaging	Het
Myo15b	T	C	11: 115,891,916	V1534A	possibly damaging	Het
Neb	T	C	2: 52,191,949	R1722G	probably benign	Het
Obp2b	A	T	2: 25,738,581	I116F	probably damaging	Het
Rims2	A	G	15: 39,456,674		probably null	Het
Siglecg	A	T	7: 43,411,795	I431F	probably benign	Het
Thap12	T	A	7: 98,716,137	V504D	possibly damaging	Het
Tlr7	A	C	X: 167,308,475	M5R	possibly damaging	Het
Tubgcp6	A	G	15: 89,100,962	V1641A	probably damaging	Het
Ugt2b1	T	A	5: 86,926,196	L101F	probably benign	Het
Xdh	A	T	17: 73,884,435	*1336R	probably null	Het

Other mutations in Cct4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R3907:Cct4	UTSW	11	23001560	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
R7951:Cct4	UTSW	11	22990868	missense	probably benign	0.38
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

Posted On

2012-12-06