Mutagenetix > Incidental Mutation

Incidental Mutation 'R2076:Cct7'

229153

Institutional Source

Beutler Lab

Gene Symbol

Cct7

Ensembl Gene

ENSMUSG00000030007

Gene Name

chaperonin containing TCP1 subunit 7

Synonyms

Cctz, Ccth

MMRRC Submission

040081-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R2076 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85428496-85445457 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85445122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 458 (I458F)

Ref Sequence

ENSEMBL: ENSMUSP00000144893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032078] [ENSMUST00000159062] [ENSMUST00000161078] [ENSMUST00000161546] [ENSMUST00000204489] [ENSMUST00000204592]

AlphaFold

P80313

Predicted Effect

probably damaging
Transcript: ENSMUST00000032078
AA Change: I500F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032078
Gene: ENSMUSG00000030007
AA Change: I500F

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	32	524	1.8e-163	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159062

SMART Domains

Protein: ENSMUSP00000125671
Gene: ENSMUSG00000047013

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	33	5.81e-2	SMART
low complexity region	65	77	N/A	INTRINSIC
low complexity region	100	122	N/A	INTRINSIC
low complexity region	162	192	N/A	INTRINSIC
SCOP:d1eq1a_	197	340	2e-5	SMART
low complexity region	352	374	N/A	INTRINSIC
low complexity region	425	440	N/A	INTRINSIC
Pfam:F-box	536	592	4.8e-5	PFAM
Pfam:F-box-like	554	593	9e-10	PFAM
low complexity region	745	759	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161078

SMART Domains

Protein: ENSMUSP00000124524
Gene: ENSMUSG00000047013

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	33	5.81e-2	SMART
low complexity region	65	77	N/A	INTRINSIC
low complexity region	100	122	N/A	INTRINSIC
low complexity region	162	192	N/A	INTRINSIC
SCOP:d1eq1a_	197	340	2e-5	SMART
low complexity region	352	374	N/A	INTRINSIC
low complexity region	425	440	N/A	INTRINSIC
Pfam:F-box	536	592	4.8e-5	PFAM
Pfam:F-box-like	554	593	9e-10	PFAM
low complexity region	745	759	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161546

SMART Domains

Protein: ENSMUSP00000124754
Gene: ENSMUSG00000047013

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	33	5.81e-2	SMART
low complexity region	65	77	N/A	INTRINSIC
low complexity region	100	122	N/A	INTRINSIC
low complexity region	162	192	N/A	INTRINSIC
SCOP:d1eq1a_	197	340	2e-5	SMART
low complexity region	352	374	N/A	INTRINSIC
low complexity region	425	440	N/A	INTRINSIC
low complexity region	519	540	N/A	INTRINSIC
Pfam:F-box-like	554	593	5.6e-10	PFAM
low complexity region	745	759	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204489

SMART Domains

Protein: ENSMUSP00000144919
Gene: ENSMUSG00000030007

Domain	Start	End	E-Value	Type
PDB:4B2T\|H	1	53	2e-29	PDB
Blast:VWA	5	51	4e-7	BLAST
SCOP:d1a6da1	16	51	2e-8	SMART
low complexity region	68	80	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000204592
AA Change: I458F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144893
Gene: ENSMUSG00000030007
AA Change: I458F

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	32	91	6e-21	PFAM
Pfam:Cpn60_TCP1	88	482	5e-115	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205096

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205143

Meta Mutation Damage Score

0.2369

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes 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. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 6. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,178,478 (GRCm39)	V1165D	probably benign	Het
Acot11	T	C	4: 106,627,910 (GRCm39)	H103R	probably damaging	Het
Apba1	G	T	19: 23,870,587 (GRCm39)	E140*	probably null	Het
Bicdl1	A	T	5: 115,793,987 (GRCm39)	I253N	probably damaging	Het
Ccdc159	T	C	9: 21,840,802 (GRCm39)		probably null	Het
Ccne2	A	G	4: 11,197,177 (GRCm39)	R160G	probably damaging	Het
Cd3g	T	A	9: 44,885,595 (GRCm39)	D50V	probably damaging	Het
Ces2h	T	C	8: 105,745,660 (GRCm39)	L461P	probably benign	Het
Cplane1	T	A	15: 8,248,741 (GRCm39)	D1763E	possibly damaging	Het
Csn2	A	G	5: 87,844,033 (GRCm39)	S19P	probably damaging	Het
Cyp3a11	A	T	5: 145,816,576 (GRCm39)	V4D	probably benign	Het
Ddx3y	A	G	Y: 1,266,593 (GRCm39)		probably null	Het
Dipk1c	G	T	18: 84,755,033 (GRCm39)	D170Y	probably damaging	Het
Dlgap1	C	T	17: 71,093,826 (GRCm39)	Q716*	probably null	Het
Dlx6	A	G	6: 6,867,098 (GRCm39)	S234G	probably benign	Het
Dnah7a	T	C	1: 53,542,968 (GRCm39)	T2401A	probably benign	Het
Dnah7b	T	G	1: 46,281,481 (GRCm39)	Y2847*	probably null	Het
Dpysl2	A	G	14: 67,102,571 (GRCm39)	S30P	probably damaging	Het
Elp1	T	C	4: 56,786,620 (GRCm39)	D441G	probably damaging	Het
Ezh2	A	T	6: 47,553,567 (GRCm39)	L50*	probably null	Het
Fam135b	T	A	15: 71,350,092 (GRCm39)	E349D	probably damaging	Het
Foxl3	A	G	5: 138,807,022 (GRCm39)	D100G	probably benign	Het
Frat2	T	C	19: 41,836,242 (GRCm39)	T37A	probably benign	Het
Hivep1	G	A	13: 42,317,869 (GRCm39)		probably null	Het
Ift25	T	C	4: 107,136,964 (GRCm39)	S121P	possibly damaging	Het
Impdh1	G	A	6: 29,205,162 (GRCm39)	A213V	probably damaging	Het
Irf2	G	T	8: 47,298,962 (GRCm39)	W252L	probably damaging	Het
Irx4	A	G	13: 73,416,384 (GRCm39)	D260G	probably damaging	Het
Kalrn	T	A	16: 34,152,513 (GRCm39)	H338L	probably benign	Het
Kif9	T	A	9: 110,314,100 (GRCm39)		probably null	Het
Klhl24	T	C	16: 19,936,628 (GRCm39)	V412A	probably damaging	Het
Lgals8	T	A	13: 12,469,750 (GRCm39)	K70*	probably null	Het
Mrtfb	T	C	16: 13,219,246 (GRCm39)	S631P	probably benign	Het
Myo1e	T	A	9: 70,291,159 (GRCm39)	N983K	probably benign	Het
Nipbl	T	C	15: 8,340,691 (GRCm39)	R2010G	probably benign	Het
Npw	A	T	17: 24,876,413 (GRCm39)	V166D	possibly damaging	Het
Osbpl5	T	C	7: 143,262,881 (GRCm39)	Y169C	probably damaging	Het
Pcdh15	T	C	10: 74,178,479 (GRCm39)	Y579H	probably damaging	Het
Pde8a	A	G	7: 80,958,693 (GRCm39)	T330A	probably benign	Het
Plxnb2	C	T	15: 89,042,229 (GRCm39)	V1592M	probably damaging	Het
Ppp2r3d	A	C	9: 101,021,570 (GRCm39)	M955R	possibly damaging	Het
Ptprk	T	A	10: 28,465,364 (GRCm39)	I1349K	probably damaging	Het
Rad52	C	T	6: 119,888,040 (GRCm39)	H9Y	probably benign	Het
Rapgef1	A	G	2: 29,592,520 (GRCm39)	Q466R	probably benign	Het
Rb1cc1	T	A	1: 6,320,262 (GRCm39)	I1227N	possibly damaging	Het
Rhbdf1	T	C	11: 32,164,088 (GRCm39)	M273V	probably benign	Het
Shoc1	A	G	4: 59,082,410 (GRCm39)	V406A	possibly damaging	Het
Slc30a3	G	T	5: 31,244,165 (GRCm39)	Y323*	probably null	Het
Slc5a9	T	C	4: 111,742,770 (GRCm39)	I441V	possibly damaging	Het
Spast	G	C	17: 74,659,026 (GRCm39)	G131A	probably damaging	Het
Syne1	C	G	10: 4,990,897 (GRCm39)	W8444S	probably damaging	Het
Tgm4	G	T	9: 122,880,160 (GRCm39)	A211S	probably benign	Het
Themis2	T	C	4: 132,513,113 (GRCm39)	D371G	probably damaging	Het
Tmem132e	T	A	11: 82,325,894 (GRCm39)	I206N	possibly damaging	Het
Uba3	G	T	6: 97,176,241 (GRCm39)	D88E	probably damaging	Het
Vmn1r230	T	A	17: 21,067,144 (GRCm39)	M111K	probably damaging	Het
Wdr35	C	T	12: 9,074,281 (GRCm39)	H971Y	possibly damaging	Het
Yeats2	C	A	16: 20,005,032 (GRCm39)	H356Q	possibly damaging	Het
Zfp180	A	G	7: 23,804,528 (GRCm39)	K316E	probably damaging	Het
Zfp518a	T	C	19: 40,902,771 (GRCm39)	L900P	probably damaging	Het
Zfp655	A	G	5: 145,181,410 (GRCm39)	N423D	possibly damaging	Het
Zfp932	A	G	5: 110,157,334 (GRCm39)	Q344R	probably benign	Het

Other mutations in Cct7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02223:Cct7	APN	6	85,439,023 (GRCm39)	missense	probably benign	0.00
IGL02292:Cct7	APN	6	85,438,091 (GRCm39)	missense	probably benign	0.03
IGL02724:Cct7	APN	6	85,436,131 (GRCm39)	missense	probably damaging	1.00
IGL02740:Cct7	APN	6	85,445,252 (GRCm39)	missense	probably benign
PIT4495001:Cct7	UTSW	6	85,436,943 (GRCm39)	missense	probably damaging	1.00
R0184:Cct7	UTSW	6	85,438,536 (GRCm39)	missense	probably null	0.55
R1363:Cct7	UTSW	6	85,443,017 (GRCm39)	missense	probably damaging	1.00
R1378:Cct7	UTSW	6	85,444,545 (GRCm39)	splice site	probably null
R2210:Cct7	UTSW	6	85,436,212 (GRCm39)	missense	probably damaging	1.00
R3905:Cct7	UTSW	6	85,443,690 (GRCm39)	missense	possibly damaging	0.90
R4298:Cct7	UTSW	6	85,445,155 (GRCm39)	missense	probably damaging	1.00
R4422:Cct7	UTSW	6	85,444,127 (GRCm39)	missense	probably damaging	0.98
R6519:Cct7	UTSW	6	85,439,132 (GRCm39)	missense	probably benign	0.19
R6903:Cct7	UTSW	6	85,443,675 (GRCm39)	missense	probably benign	0.27
R6925:Cct7	UTSW	6	85,436,164 (GRCm39)	missense	probably damaging	1.00
R7133:Cct7	UTSW	6	85,443,627 (GRCm39)	missense	probably benign	0.02
R7458:Cct7	UTSW	6	85,436,978 (GRCm39)	missense	probably benign	0.14
R8133:Cct7	UTSW	6	85,438,045 (GRCm39)	missense	probably damaging	1.00
R9516:Cct7	UTSW	6	85,444,625 (GRCm39)	missense	possibly damaging	0.86
Z1177:Cct7	UTSW	6	85,443,651 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GGTGCCATTTCTCTTCACAAAGTG -3'
(R):5'- TCAGTGAGAACCCAGCAGAC -3'

Sequencing Primer
(F):5'- CAAAGTGCTTTGTCAAGTCAGG -3'
(R):5'- GACCAGCAACCATCTTCTCATC -3'

Posted On

2014-09-17