Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02656:Cct5'

302337

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cct5

Ensembl Gene

ENSMUSG00000022234

Gene Name

chaperonin containing Tcp1, subunit 5 (epsilon)

Synonyms

Ccte, TCPE

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02656

Quality Score

Status

Chromosome

Chromosomal Location

31590800-31601804 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31597430 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 66 (D66E)

Ref Sequence

ENSEMBL: ENSMUSP00000125566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022842] [ENSMUST00000042702] [ENSMUST00000161061] [ENSMUST00000161266]

Predicted Effect

probably damaging
Transcript: ENSMUST00000022842
AA Change: D104E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022842
Gene: ENSMUSG00000022234
AA Change: D104E

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	44	537	7.7e-160	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042702

SMART Domains

Protein: ENSMUSP00000039094
Gene: ENSMUSG00000039065

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
SCOP:d1dusa_	87	186	2e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159121

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160174

Predicted Effect

probably benign
Transcript: ENSMUST00000161061

SMART Domains

Protein: ENSMUSP00000124619
Gene: ENSMUSG00000039065

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161266
AA Change: D66E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125566
Gene: ENSMUSG00000022234
AA Change: D66E

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	6	199	5.4e-61	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	G	T	14: 31,702,240	A981D	possibly damaging	Het
Ccdc69	G	T	11: 55,052,437	Q114K	possibly damaging	Het
Ces2e	G	T	8: 104,927,056	R42I	possibly damaging	Het
Cib2	T	G	9: 54,545,898	D178A	probably damaging	Het
Cldn7	G	A	11: 69,967,008	V97I	probably benign	Het
Dok3	A	T	13: 55,528,480	I12N	probably damaging	Het
Fndc5	T	A	4: 129,139,446	V102E	probably damaging	Het
Gas2	T	C	7: 51,943,744	S191P	probably benign	Het
Herc6	T	A	6: 57,611,836		probably null	Het
Krt18	A	G	15: 102,030,922	T277A	probably benign	Het
Mpp3	A	G	11: 102,008,601	S365P	probably benign	Het
Msmo1	T	C	8: 64,727,872	T3A	probably benign	Het
Olfr1509	G	T	14: 52,450,709	A99S	possibly damaging	Het
Olfr1537	T	A	9: 39,238,160	E88V	probably benign	Het
Olfr394	A	G	11: 73,888,039	F111S	probably damaging	Het
Pex19	C	A	1: 172,130,685	A77E	probably benign	Het
Phf20l1	A	G	15: 66,629,827	D620G	probably damaging	Het
Prr5	A	G	15: 84,699,136	D105G	probably damaging	Het
Rab12	T	A	17: 66,506,054	K88M	probably damaging	Het
Rictor	T	C	15: 6,776,920	V673A	probably damaging	Het
Rps26	A	G	10: 128,625,257	S88P	possibly damaging	Het
Sema5a	T	A	15: 32,631,285	S605T	possibly damaging	Het
Slc35a4	T	C	18: 36,682,447	M110T	probably damaging	Het
Sowahb	T	C	5: 93,043,247	S538G	probably benign	Het
Srrt	T	A	5: 137,299,676		probably benign	Het
Ssbp2	G	A	13: 91,669,752		probably benign	Het
Supt20	C	T	3: 54,708,395	R236W	probably damaging	Het
Tenm4	A	G	7: 96,885,433	D1791G	probably damaging	Het
Tgm6	G	A	2: 130,145,103	G497D	probably damaging	Het
Trim12c	C	T	7: 104,341,203	V356I	probably damaging	Het
Vwce	T	A	19: 10,664,352	I814K	probably benign	Het

Other mutations in Cct5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00847:Cct5	APN	15	31590927	unclassified	probably benign
IGL03188:Cct5	APN	15	31598002	missense	probably benign	0.10
IGL03052:Cct5	UTSW	15	31597487	missense	probably damaging	1.00
R0279:Cct5	UTSW	15	31591031	missense	probably damaging	1.00
R1933:Cct5	UTSW	15	31591008	missense	probably benign	0.05
R2086:Cct5	UTSW	15	31594203	missense	probably damaging	1.00
R4482:Cct5	UTSW	15	31597569	missense	probably damaging	1.00
R5331:Cct5	UTSW	15	31594302	unclassified	probably benign
R5618:Cct5	UTSW	15	31598015	missense	possibly damaging	0.52
X0023:Cct5	UTSW	15	31601659	missense	probably damaging	1.00

Posted On

2015-04-16