Mutagenetix > Incidental Mutation

Incidental Mutation 'R5687:Cct8'

443462

Institutional Source

Beutler Lab

Gene Symbol

Cct8

Ensembl Gene

ENSMUSG00000025613

Gene Name

chaperonin containing TCP1 subunit 8

Synonyms

Tcpq, Cctq

MMRRC Submission

043320-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R5687 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87280213-87292757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87285709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 250 (I250V)

Ref Sequence

ENSEMBL: ENSMUSP00000026704 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026704] [ENSMUST00000175977] [ENSMUST00000176041] [ENSMUST00000176750] [ENSMUST00000177376]

AlphaFold

P42932

Predicted Effect

probably benign
Transcript: ENSMUST00000026704
AA Change: I250V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000026704
Gene: ENSMUSG00000025613
AA Change: I250V

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	39	529	6.7e-156	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000175750
AA Change: I8V

SMART Domains

Protein: ENSMUSP00000134920
Gene: ENSMUSG00000025613
AA Change: I8V

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	1	238	1.2e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175977
AA Change: I191V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000135651
Gene: ENSMUSG00000025613
AA Change: I191V

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	39	132	4.5e-32	PFAM
Pfam:Cpn60_TCP1	120	470	1.9e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176041

SMART Domains

Protein: ENSMUSP00000135377
Gene: ENSMUSG00000025613

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	1	158	3.3e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176589

Predicted Effect

probably benign
Transcript: ENSMUST00000176750

SMART Domains

Protein: ENSMUSP00000135830
Gene: ENSMUSG00000025613

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	1	132	1.7e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177485

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177301

Predicted Effect

probably benign
Transcript: ENSMUST00000177376

SMART Domains

Protein: ENSMUSP00000135498
Gene: ENSMUSG00000025613

Domain	Start	End	E-Value	Type
PDB:4B2T\|Q	1	51	1e-29	PDB
SCOP:d1oela1	26	51	8e-4	SMART

Meta Mutation Damage Score

0.0822

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the theta subunit of the CCT chaperonin, which is abundant in the eukaryotic cytosol and may be involved in the transport and assembly of newly synthesized proteins. Alternative splicing results in multiple transcript variants of this gene. A pseudogene related to this gene is located on chromosome 1. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,223,852 (GRCm39)	D1292V	probably benign	Het
Adcy2	A	T	13: 68,768,938 (GRCm39)	C1063*	probably null	Het
Adcy2	A	T	13: 68,790,688 (GRCm39)	V892D	probably damaging	Het
Agtpbp1	T	C	13: 59,648,329 (GRCm39)	D497G	probably benign	Het
Anks1b	A	C	10: 90,750,573 (GRCm39)	I195L	probably benign	Het
Asmt	G	T	X: 169,111,749 (GRCm39)	S377I	unknown	Het
C1s1	T	A	6: 124,517,909 (GRCm39)	T24S	probably benign	Het
Ccdc85a	A	T	11: 28,342,854 (GRCm39)		probably benign	Het
Ccndbp1	T	C	2: 120,845,183 (GRCm39)		probably benign	Het
Cmya5	T	C	13: 93,234,684 (GRCm39)	T135A	possibly damaging	Het
Col11a1	T	C	3: 114,010,752 (GRCm39)		probably benign	Het
Crybg3	A	G	16: 59,379,529 (GRCm39)	M575T	probably benign	Het
Dmp1	C	T	5: 104,354,952 (GRCm39)		probably benign	Het
Emc1	G	T	4: 139,102,691 (GRCm39)	R950L	probably damaging	Het
Enpep	T	C	3: 129,092,743 (GRCm39)		probably null	Het
Eya1	G	A	1: 14,253,476 (GRCm39)	T500I	probably damaging	Het
Fam169a	T	C	13: 97,230,126 (GRCm39)	F54L	probably damaging	Het
Fbxo8	A	G	8: 57,044,552 (GRCm39)	K285R	probably damaging	Het
Galnt1	A	T	18: 24,405,807 (GRCm39)	E416D	probably benign	Het
Gcc1	T	A	6: 28,419,232 (GRCm39)		probably null	Het
Gm10800	T	A	2: 98,496,965 (GRCm39)	Y196F	probably benign	Het
Gmpr	T	A	13: 45,692,496 (GRCm39)		probably null	Het
Jrkl	C	T	9: 13,244,387 (GRCm39)	E425K	probably benign	Het
Kl	T	G	5: 150,911,931 (GRCm39)	I560S	possibly damaging	Het
Kyat3	C	A	3: 142,440,343 (GRCm39)	R356S	probably null	Het
Lrig2	C	T	3: 104,371,388 (GRCm39)		probably null	Het
Lrrc47	A	G	4: 154,100,140 (GRCm39)	T239A	probably benign	Het
Map4k2	T	C	19: 6,395,672 (GRCm39)		probably benign	Het
Mon2	A	G	10: 122,844,144 (GRCm39)	S1469P	probably damaging	Het
Mthfd1l	G	A	10: 3,940,002 (GRCm39)		probably null	Het
Mvk	G	T	5: 114,588,826 (GRCm39)	G144V	probably damaging	Het
Nasp	T	A	4: 116,463,002 (GRCm39)		probably benign	Het
Ndst4	A	C	3: 125,232,258 (GRCm39)	N276H	possibly damaging	Het
Nsmf	C	T	2: 24,946,079 (GRCm39)	P189S	probably damaging	Het
Nt5m	T	G	11: 59,743,649 (GRCm39)	D92E	probably benign	Het
Or10g6	T	G	9: 39,933,731 (GRCm39)	L14R	probably damaging	Het
Or4k39	T	C	2: 111,239,033 (GRCm39)		noncoding transcript	Het
Or4p23	A	T	2: 88,577,094 (GRCm39)	I46N	probably damaging	Het
Pan3	T	A	5: 147,391,982 (GRCm39)	I119N	probably damaging	Het
Pard6b	A	T	2: 167,940,546 (GRCm39)	S178C	probably damaging	Het
Parl	A	G	16: 20,106,728 (GRCm39)		probably benign	Het
Pdk2	A	G	11: 94,919,851 (GRCm39)		probably benign	Het
Prag1	A	G	8: 36,613,967 (GRCm39)	E1173G	probably benign	Het
Prph2	T	A	17: 47,234,391 (GRCm39)	L320Q	probably damaging	Het
Psmd3	T	C	11: 98,584,495 (GRCm39)	I200T	probably damaging	Het
Rhbdd3	T	A	11: 5,055,707 (GRCm39)	S324T	probably damaging	Het
Rps6-ps2	A	T	8: 89,533,112 (GRCm39)		noncoding transcript	Het
Rps8	G	C	4: 117,012,352 (GRCm39)		probably benign	Het
Samd4	A	G	14: 47,254,022 (GRCm39)	N61S	probably benign	Het
Sfrp2	G	A	3: 83,674,146 (GRCm39)	A100T	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc6a13	A	G	6: 121,279,700 (GRCm39)	T25A	probably benign	Het
Sntg1	C	A	1: 8,533,667 (GRCm39)	R329L	possibly damaging	Het
Sorbs2	T	C	8: 46,228,669 (GRCm39)	F285L	probably damaging	Het
Speg	T	C	1: 75,395,773 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,661,541 (GRCm39)	Y533C	probably damaging	Het
Supt5	C	A	7: 28,017,188 (GRCm39)	S668I	probably benign	Het
Taf6l	T	G	19: 8,750,676 (GRCm39)	I133L	probably benign	Het
Thrap3	G	A	4: 126,074,279 (GRCm39)		probably benign	Het
Tmem115	A	G	9: 107,412,054 (GRCm39)	N126S	probably benign	Het
Trgc1	A	T	13: 19,400,729 (GRCm39)	I153F	unknown	Het
Tspoap1	T	A	11: 87,667,952 (GRCm39)	I1192N	probably damaging	Het
Vcan	T	C	13: 89,826,253 (GRCm39)	I3184V	probably damaging	Het
Yeats4	G	A	10: 117,051,585 (GRCm39)	T224M	probably benign	Het
Zc3h13	A	T	14: 75,569,400 (GRCm39)	R1416*	probably null	Het
Zmynd12	T	A	4: 119,299,098 (GRCm39)	Y193N	probably damaging	Het

Other mutations in Cct8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02054:Cct8	APN	16	87,287,364 (GRCm39)	splice site	probably benign
IGL02975:Cct8	APN	16	87,283,118 (GRCm39)	splice site	probably benign
IGL03015:Cct8	APN	16	87,283,553 (GRCm39)	splice site	probably benign
IGL03191:Cct8	APN	16	87,283,198 (GRCm39)	missense	probably damaging	1.00
PIT4151001:Cct8	UTSW	16	87,284,545 (GRCm39)	missense	probably damaging	1.00
R0479:Cct8	UTSW	16	87,284,594 (GRCm39)	missense	probably damaging	1.00
R0972:Cct8	UTSW	16	87,283,508 (GRCm39)	missense	possibly damaging	0.94
R1368:Cct8	UTSW	16	87,288,200 (GRCm39)	missense	probably damaging	0.99
R1544:Cct8	UTSW	16	87,288,342 (GRCm39)	splice site	probably benign
R1548:Cct8	UTSW	16	87,282,472 (GRCm39)	missense	probably damaging	0.99
R1823:Cct8	UTSW	16	87,287,442 (GRCm39)	nonsense	probably null
R2303:Cct8	UTSW	16	87,287,220 (GRCm39)	splice site	probably null
R3076:Cct8	UTSW	16	87,285,765 (GRCm39)	missense	possibly damaging	0.84
R3078:Cct8	UTSW	16	87,285,765 (GRCm39)	missense	possibly damaging	0.84
R4094:Cct8	UTSW	16	87,284,516 (GRCm39)	missense	possibly damaging	0.94
R4713:Cct8	UTSW	16	87,284,576 (GRCm39)	nonsense	probably null
R5031:Cct8	UTSW	16	87,284,426 (GRCm39)	missense	probably damaging	0.99
R6325:Cct8	UTSW	16	87,292,615 (GRCm39)	critical splice donor site	probably null
R6391:Cct8	UTSW	16	87,284,566 (GRCm39)	missense	probably benign	0.00
R6395:Cct8	UTSW	16	87,283,364 (GRCm39)	nonsense	probably null
R7252:Cct8	UTSW	16	87,281,807 (GRCm39)	missense	probably benign	0.01
R7570:Cct8	UTSW	16	87,288,210 (GRCm39)	missense	probably benign	0.18
R8397:Cct8	UTSW	16	87,290,651 (GRCm39)	missense	possibly damaging	0.95
R8766:Cct8	UTSW	16	87,285,756 (GRCm39)	missense	probably damaging	0.97
R9309:Cct8	UTSW	16	87,282,592 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATACTGCCACCACTAAGTGTTT -3'
(R):5'- GCCTTGCTGTACAACTTTAGTTTAA -3'

Sequencing Primer
(F):5'- GCCACCACTAAGTGTTTTTAGTTTAG -3'
(R):5'- TCACACAGTCGCAGAAGTTG -3'

Posted On

2016-11-09