Mutagenetix > Incidental Mutation

Incidental Mutation 'R5772:Cct3'

445431

Institutional Source

Beutler Lab

Gene Symbol

Cct3

Ensembl Gene

ENSMUSG00000001416

Gene Name

chaperonin containing TCP1 subunit 3

Synonyms

TriC-P5, Tcp1-rs3, Cctg

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88204442-88229073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88208274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 61 (N61K)

Ref Sequence

ENSEMBL: ENSMUSP00000131113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001452] [ENSMUST00000010682] [ENSMUST00000107556] [ENSMUST00000164166] [ENSMUST00000168062]

AlphaFold

P80318

Predicted Effect

probably damaging
Transcript: ENSMUST00000001452
AA Change: N61K

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

SMART Domains

Protein: ENSMUSP00000001452
Gene: ENSMUSG00000001416
AA Change: N61K

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	33	527	3.2e-171	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000010682

Predicted Effect

probably benign
Transcript: ENSMUST00000107556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123536

Predicted Effect

probably benign
Transcript: ENSMUST00000163735

SMART Domains

Protein: ENSMUSP00000130616
Gene: ENSMUSG00000001416

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	2	115	4.7e-22	PFAM
Pfam:Cpn60_TCP1	106	306	8.4e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164166

SMART Domains

Protein: ENSMUSP00000126109
Gene: ENSMUSG00000001416

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	15	489	1.7e-144	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164783

Predicted Effect

probably damaging
Transcript: ENSMUST00000168062
AA Change: N61K

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

SMART Domains

Protein: ENSMUSP00000131113
Gene: ENSMUSG00000001416
AA Change: N61K

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	33	520	2.3e-157	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193666

Meta Mutation Damage Score

0.9125

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (64/65)

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. Alternate transcriptional splice variants have been characterized for this gene. In addition, a pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit lethality at E8. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932416K20Rik	G	A	8: 105,524,271 (GRCm39)		noncoding transcript	Het
Abcg8	A	T	17: 84,994,127 (GRCm39)	E48V	probably damaging	Het
Afap1l2	T	C	19: 56,911,406 (GRCm39)	T289A	probably benign	Het
Atf6	T	A	1: 170,574,758 (GRCm39)	D560V	probably damaging	Het
Bcl2l14	A	T	6: 134,404,362 (GRCm39)	K183N	probably damaging	Het
Carmil3	T	C	14: 55,730,696 (GRCm39)	L52P	probably damaging	Het
Col18a1	A	G	10: 77,002,177 (GRCm39)	V10A	unknown	Het
Col26a1	G	A	5: 136,876,420 (GRCm39)	Q67*	probably null	Het
Cyp2d34	T	C	15: 82,501,341 (GRCm39)	D329G	probably null	Het
Dchs1	T	A	7: 105,422,247 (GRCm39)	I58F	probably damaging	Het
Ddx60	T	C	8: 62,401,931 (GRCm39)	L269P	probably damaging	Het
Dis3l2	G	A	1: 86,806,154 (GRCm39)	G325D	probably damaging	Het
Dync1h1	A	T	12: 110,612,707 (GRCm39)	K2861*	probably null	Het
Ednra	A	G	8: 78,401,696 (GRCm39)	I198T	possibly damaging	Het
Ep300	T	C	15: 81,524,115 (GRCm39)		probably benign	Het
Fam120a	G	A	13: 49,034,409 (GRCm39)	P1068S	probably benign	Het
Fsip2	A	T	2: 82,815,084 (GRCm39)	M3606L	probably benign	Het
Garre1	A	T	7: 33,953,413 (GRCm39)	W238R	probably damaging	Het
Gm7713	T	C	15: 59,866,492 (GRCm39)		noncoding transcript	Het
Gprin3	A	T	6: 59,331,398 (GRCm39)	V303D	possibly damaging	Het
Hmcn1	A	T	1: 150,570,629 (GRCm39)	V2178D	possibly damaging	Het
Hoxa11	A	G	6: 52,222,380 (GRCm39)	V107A	possibly damaging	Het
Iqub	C	A	6: 24,454,250 (GRCm39)	M544I	possibly damaging	Het
Itgb4	A	T	11: 115,879,258 (GRCm39)		probably benign	Het
Itpkb	A	G	1: 180,161,818 (GRCm39)		probably benign	Het
Kalrn	A	T	16: 33,796,190 (GRCm39)	V1195E	probably damaging	Het
Kif12	C	A	4: 63,084,178 (GRCm39)	R608M	probably damaging	Het
Lcorl	A	T	5: 45,952,709 (GRCm39)		probably null	Het
Lrrc24	T	C	15: 76,606,910 (GRCm39)	E162G	probably damaging	Het
Med6	A	G	12: 81,626,418 (GRCm39)	S119P	probably damaging	Het
Mmab	A	C	5: 114,574,775 (GRCm39)	L166R	probably damaging	Het
Myef2l	A	G	3: 10,153,566 (GRCm39)	R112G	probably damaging	Het
Nom1	A	G	5: 29,651,873 (GRCm39)	K737R	possibly damaging	Het
Obscn	T	C	11: 58,946,970 (GRCm39)	S4352G	probably damaging	Het
Or10ag60	A	T	2: 87,438,517 (GRCm39)	T262S	probably benign	Het
Or2w25	T	A	11: 59,504,712 (GRCm39)	D307E	probably benign	Het
Or4k35	A	T	2: 111,100,057 (GRCm39)	Y218*	probably null	Het
Or6d12	A	C	6: 116,492,912 (GRCm39)	D58A	possibly damaging	Het
Pdzrn3	G	A	6: 101,149,275 (GRCm39)	S351L	probably benign	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Prkdc	T	A	16: 15,597,252 (GRCm39)	I2804K	possibly damaging	Het
Psg28	A	G	7: 18,164,640 (GRCm39)	L24P	probably damaging	Het
Resp18	A	G	1: 75,250,644 (GRCm39)	V145A	possibly damaging	Het
Rgl3	T	C	9: 21,892,908 (GRCm39)	M259V	probably benign	Het
Rhot2	A	T	17: 26,058,781 (GRCm39)	S540T	probably benign	Het
Ring1	T	C	17: 34,241,282 (GRCm39)	Y278C	possibly damaging	Het
Rpn2	A	G	2: 157,137,265 (GRCm39)	Y216C	probably damaging	Het
Scgb2b18	G	A	7: 32,873,255 (GRCm39)	L5F	unknown	Het
Slamf7	T	C	1: 171,466,838 (GRCm39)		probably null	Het
Slc22a12	T	C	19: 6,590,479 (GRCm39)	N237S	possibly damaging	Het
Spen	A	T	4: 141,205,495 (GRCm39)	V1044D	unknown	Het
Sqor	A	T	2: 122,651,261 (GRCm39)	M175L	probably benign	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Tars3	T	G	7: 65,333,873 (GRCm39)	F632V	probably damaging	Het
Tln1	A	G	4: 43,545,191 (GRCm39)	V1008A	probably benign	Het
Tmem145	A	G	7: 25,015,039 (GRCm39)	H554R	probably benign	Het
Trank1	A	T	9: 111,195,744 (GRCm39)	D1256V	possibly damaging	Het
Trbv19	A	G	6: 41,155,794 (GRCm39)	Y55C	possibly damaging	Het
Ttc23l	C	T	15: 10,551,555 (GRCm39)	C57Y	probably benign	Het
Uap1	A	T	1: 169,988,949 (GRCm39)	C158S	probably benign	Het
Zfp353-ps	T	A	8: 42,535,647 (GRCm39)		noncoding transcript	Het
Zfp629	T	A	7: 127,210,307 (GRCm39)	I501F	probably damaging	Het
Zfp820	T	C	17: 22,037,702 (GRCm39)	Y542C	probably damaging	Het

Other mutations in Cct3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0068:Cct3	UTSW	3	88,225,772 (GRCm39)	missense	probably benign	0.05
R0068:Cct3	UTSW	3	88,225,772 (GRCm39)	missense	probably benign	0.05
R0454:Cct3	UTSW	3	88,210,173 (GRCm39)	critical splice donor site	probably null
R0799:Cct3	UTSW	3	88,206,652 (GRCm39)	splice site	probably null
R0883:Cct3	UTSW	3	88,220,864 (GRCm39)	missense	probably damaging	1.00
R1202:Cct3	UTSW	3	88,225,835 (GRCm39)	critical splice donor site	probably null
R3889:Cct3	UTSW	3	88,228,334 (GRCm39)	missense	probably benign	0.00
R4766:Cct3	UTSW	3	88,219,092 (GRCm39)	nonsense	probably null
R5089:Cct3	UTSW	3	88,208,150 (GRCm39)	missense	probably damaging	1.00
R5224:Cct3	UTSW	3	88,204,532 (GRCm39)	utr 5 prime	probably benign
R5263:Cct3	UTSW	3	88,228,672 (GRCm39)	critical splice donor site	probably null
R6026:Cct3	UTSW	3	88,219,029 (GRCm39)	missense	possibly damaging	0.90
R7230:Cct3	UTSW	3	88,220,567 (GRCm39)	missense	probably damaging	0.99
R7423:Cct3	UTSW	3	88,216,503 (GRCm39)	missense	probably benign	0.05
R7810:Cct3	UTSW	3	88,228,442 (GRCm39)	missense	probably damaging	1.00
R8315:Cct3	UTSW	3	88,220,564 (GRCm39)	missense	probably benign	0.00
R8422:Cct3	UTSW	3	88,208,126 (GRCm39)	missense	probably damaging	1.00
R8431:Cct3	UTSW	3	88,225,831 (GRCm39)	missense	possibly damaging	0.68
R9290:Cct3	UTSW	3	88,216,536 (GRCm39)	missense	probably benign
R9295:Cct3	UTSW	3	88,212,430 (GRCm39)	missense	probably benign	0.00
R9338:Cct3	UTSW	3	88,225,706 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- CAATTGCAGACATCATCCGG -3'
(R):5'- CCATCATGCCTTGATAACCCTTGG -3'

Sequencing Primer
(F):5'- GACCTGCTTGGGACCTAAATCTATG -3'
(R):5'- ACCCTTGGATTTCAGACAGG -3'

Posted On

2016-11-21