Mutagenetix > Incidental Mutation

Incidental Mutation 'R9433:Cct5'

713137

Institutional Source

Beutler Lab

Gene Symbol

Cct5

Ensembl Gene

ENSMUSG00000022234

Gene Name

chaperonin containing TCP1 subunit 5

Synonyms

TCPE, Ccte

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9433 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31590946-31601950 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31592883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 409 (I409T)

Ref Sequence

ENSEMBL: ENSMUSP00000022842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022842] [ENSMUST00000070918] [ENSMUST00000161266] [ENSMUST00000162532] [ENSMUST00000226951]

AlphaFold

P80316

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022842
AA Change: I409T

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022842
Gene: ENSMUSG00000022234
AA Change: I409T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000070918

SMART Domains

Protein: ENSMUSP00000070314
Gene: ENSMUSG00000022235

Domain	Start	End	E-Value	Type
Pfam:DLH	30	245	6e-40	PFAM
Pfam:Abhydrolase_5	44	213	1.1e-16	PFAM
Pfam:FSH1	77	214	1.7e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161266

SMART Domains

Protein: ENSMUSP00000125566
Gene: ENSMUSG00000022234

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162532

SMART Domains

Protein: ENSMUSP00000125296
Gene: ENSMUSG00000022235

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	26	174	3.2e-11	PFAM
Pfam:DLH	30	174	3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226951

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	C	12: 81,466,723 (GRCm39)	T633A	possibly damaging	Het
Adgrv1	A	T	13: 81,714,471 (GRCm39)	F937L	probably benign	Het
Adipor2	A	T	6: 119,336,486 (GRCm39)	F159Y	probably damaging	Het
Ahcyl1	A	G	3: 107,575,645 (GRCm39)	V380A	probably damaging	Het
Akp3	A	G	1: 87,053,517 (GRCm39)	K157E	probably benign	Het
Arpc1a	T	A	5: 145,045,203 (GRCm39)	I364N	possibly damaging	Het
Bach1	C	G	16: 87,516,603 (GRCm39)	S381R	probably benign	Het
Brms1l	G	A	12: 55,912,863 (GRCm39)		probably null	Het
Camk1d	A	G	2: 5,680,777 (GRCm39)	S6P	unknown	Het
Ccdc112	C	A	18: 46,424,040 (GRCm39)	V233L	probably benign	Het
Ccdc113	A	T	8: 96,272,613 (GRCm39)	N240I	possibly damaging	Het
Ccdc168	A	T	1: 44,095,668 (GRCm39)	V1810E	possibly damaging	Het
Ccdc6	T	C	10: 70,004,951 (GRCm39)	V232A	possibly damaging	Het
Cd96	A	G	16: 45,856,298 (GRCm39)	Y583H	probably damaging	Het
Cdh22	C	T	2: 164,954,329 (GRCm39)	V731M	probably benign	Het
Clcn1	C	T	6: 42,282,494 (GRCm39)	P521S	probably damaging	Het
Clec18a	C	T	8: 111,808,322 (GRCm39)	A27T	probably benign	Het
Cnnm2	C	T	19: 46,750,807 (GRCm39)	A199V	probably benign	Het
Copg1	G	A	6: 87,880,478 (GRCm39)	A494T	possibly damaging	Het
Cpsf2	A	G	12: 101,948,252 (GRCm39)	E16G	probably damaging	Het
Cyp2j5	T	A	4: 96,552,244 (GRCm39)	I2F	probably benign	Het
Dgkg	T	A	16: 22,384,065 (GRCm39)	N463Y	probably damaging	Het
Dnah11	T	C	12: 117,976,007 (GRCm39)	D2804G	probably damaging	Het
Efcab12	T	C	6: 115,792,995 (GRCm39)	N488D	probably benign	Het
Etv5	G	A	16: 22,254,668 (GRCm39)	P64L	probably damaging	Het
Fbrs	A	G	7: 127,084,272 (GRCm39)	E468G	probably benign	Het
Fcho1	A	T	8: 72,169,468 (GRCm39)	M146K	probably benign	Het
Gad1	A	T	2: 70,423,807 (GRCm39)	M405L		Het
Gcc2	T	A	10: 58,106,592 (GRCm39)	H609Q	probably benign	Het
Gm11983	A	T	11: 6,786,902 (GRCm39)	M75K	unknown	Het
Gm4353	T	A	7: 115,682,871 (GRCm39)	I237F	probably damaging	Het
H1f0	C	T	15: 78,912,947 (GRCm39)	P9L	probably damaging	Het
Hcn4	A	G	9: 58,731,222 (GRCm39)	D143G	unknown	Het
Id1	T	A	2: 152,578,430 (GRCm39)	V57D	probably damaging	Het
Ifna13	T	C	4: 88,562,540 (GRCm39)	Q28R	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Lonrf2	G	A	1: 38,875,538 (GRCm39)		probably benign	Het
Magi3	C	T	3: 103,922,473 (GRCm39)	A1415T	probably benign	Het
Mia2	A	G	12: 59,148,371 (GRCm39)	E77G	probably damaging	Het
Muc16	T	A	9: 18,483,937 (GRCm39)	Q6945L	probably benign	Het
Nos2	G	A	11: 78,850,490 (GRCm39)	R1116H	probably damaging	Het
Or2w4	C	T	13: 21,795,224 (GRCm39)	C305Y	probably benign	Het
Parpbp	A	C	10: 87,975,858 (GRCm39)	V85G	probably benign	Het
Pcmtd2	C	T	2: 181,496,837 (GRCm39)	H273Y	possibly damaging	Het
Pcp4l1	C	T	1: 171,001,998 (GRCm39)	G54D	probably damaging	Het
Pkdrej	T	C	15: 85,704,070 (GRCm39)	H622R	probably benign	Het
Plxnd1	G	T	6: 115,945,754 (GRCm39)	D906E	probably benign	Het
Pnpla8	T	C	12: 44,330,305 (GRCm39)	S286P	probably damaging	Het
Prss36	C	T	7: 127,533,339 (GRCm39)	V631I	probably benign	Het
Ptpn9	A	T	9: 56,964,010 (GRCm39)	N381I	possibly damaging	Het
Ranbp9	A	T	13: 43,576,041 (GRCm39)	I222N	probably damaging	Het
Rev1	T	C	1: 38,092,173 (GRCm39)	T1249A	probably damaging	Het
Ripply2	G	T	9: 86,901,715 (GRCm39)	W80C	probably damaging	Het
Rnaseh2b	C	A	14: 62,602,722 (GRCm39)	P235Q	probably benign	Het
Sacs	T	A	14: 61,443,997 (GRCm39)	F2014L	probably damaging	Het
Serpinb9f	A	G	13: 33,518,238 (GRCm39)	N246S	probably benign	Het
Sh3pxd2a	A	T	19: 47,255,539 (GRCm39)	S1088T	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skint3	A	G	4: 112,137,432 (GRCm39)	I367V	probably benign	Het
Slc20a2	G	T	8: 23,051,211 (GRCm39)	E415*	probably null	Het
Slc5a1	T	A	5: 33,310,025 (GRCm39)	S418T	probably benign	Het
Spats2	G	T	15: 99,076,446 (GRCm39)	G175*	probably null	Het
Srebf1	A	T	11: 60,095,015 (GRCm39)	F485L	possibly damaging	Het
St8sia4	A	G	1: 95,555,364 (GRCm39)	V222A		Het
Stab1	C	T	14: 30,865,531 (GRCm39)	E1786K	probably benign	Het
Stat2	A	G	10: 128,112,657 (GRCm39)	M58V	probably benign	Het
Stat5a	A	G	11: 100,765,870 (GRCm39)	T319A	probably benign	Het
Sufu	A	G	19: 46,385,532 (GRCm39)		probably benign	Het
Tle6	T	A	10: 81,426,880 (GRCm39)	I579F	probably damaging	Het
Tmem131l	A	T	3: 83,845,459 (GRCm39)	D390E	probably benign	Het
Trim33	T	A	3: 103,228,979 (GRCm39)		probably null	Het
Usp54	A	G	14: 20,611,678 (GRCm39)	V1046A	probably benign	Het
Vit	G	A	17: 78,932,413 (GRCm39)	G507R	probably damaging	Het
Vmn2r59	A	G	7: 41,695,590 (GRCm39)	I274T	probably damaging	Het
Vmn2r67	T	A	7: 84,804,917 (GRCm39)	K65M	possibly damaging	Het
Vmn2r86	C	T	10: 130,282,567 (GRCm39)	G683E	possibly damaging	Het
Vwa8	T	C	14: 79,335,871 (GRCm39)		probably null	Het
Zdhhc14	A	G	17: 5,781,779 (GRCm39)	D333G	probably benign	Het
Zup1	G	A	10: 33,795,355 (GRCm39)	S568L	probably damaging	Het

Other mutations in Cct5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00847:Cct5	APN	15	31,591,073 (GRCm39)	unclassified	probably benign
IGL02656:Cct5	APN	15	31,597,576 (GRCm39)	missense	probably damaging	1.00
IGL03188:Cct5	APN	15	31,598,148 (GRCm39)	missense	probably benign	0.10
IGL03052:Cct5	UTSW	15	31,597,633 (GRCm39)	missense	probably damaging	1.00
R0279:Cct5	UTSW	15	31,591,177 (GRCm39)	missense	probably damaging	1.00
R1933:Cct5	UTSW	15	31,591,154 (GRCm39)	missense	probably benign	0.05
R2086:Cct5	UTSW	15	31,594,349 (GRCm39)	missense	probably damaging	1.00
R4482:Cct5	UTSW	15	31,597,715 (GRCm39)	missense	probably damaging	1.00
R5331:Cct5	UTSW	15	31,594,448 (GRCm39)	unclassified	probably benign
R5618:Cct5	UTSW	15	31,598,161 (GRCm39)	missense	possibly damaging	0.52
R8828:Cct5	UTSW	15	31,594,658 (GRCm39)	missense	possibly damaging	0.81
R9145:Cct5	UTSW	15	31,591,107 (GRCm39)	missense
R9644:Cct5	UTSW	15	31,601,845 (GRCm39)	missense	probably benign	0.42
X0023:Cct5	UTSW	15	31,601,805 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACAGCTGTTCATAAGCATGC -3'
(R):5'- AACTCTAGAGCTGTGACCATTTTC -3'

Sequencing Primer
(F):5'- GCATGCATTGAAAAGTCACTCAG -3'
(R):5'- AGAGCTGTGACCATTTTCATCAGAGG -3'

Posted On

2022-05-16