Mutagenetix > Incidental Mutation

Incidental Mutation 'R3713:Cct6b'

259762

Institutional Source

Beutler Lab

Gene Symbol

Cct6b

Ensembl Gene

ENSMUSG00000020698

Gene Name

chaperonin containing TCP1 subunit 6B

Synonyms

CCTzeta-2, Cctz-2

MMRRC Submission

040706-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.384) question?

Stock #

R3713 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82610076-82655147 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82651183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 110 (I110N)

Ref Sequence

ENSEMBL: ENSMUSP00000021040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021040] [ENSMUST00000056677] [ENSMUST00000100722]

AlphaFold

Q61390

Predicted Effect

probably damaging
Transcript: ENSMUST00000021040
AA Change: I110N

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

SMART Domains

Protein: ENSMUSP00000021040
Gene: ENSMUSG00000020698
AA Change: I110N

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	30	526	1.1e-161	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056677

SMART Domains

Protein: ENSMUSP00000056154
Gene: ENSMUSG00000046010

Domain	Start	End	E-Value	Type
coiled coil region	13	40	N/A	INTRINSIC
Blast:ZnF_U1	48	82	4e-10	BLAST
low complexity region	129	143	N/A	INTRINSIC
low complexity region	156	167	N/A	INTRINSIC
coiled coil region	303	331	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100722
AA Change: I71N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098288
Gene: ENSMUSG00000020698
AA Change: I71N

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	4	486	9.7e-140	PFAM

Meta Mutation Damage Score

0.9226

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (67/67)

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. [provided by RefSeq, Feb 2015]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,424,081 (GRCm39)	M137V	probably benign	Het
Aak1	T	A	6: 86,932,172 (GRCm39)	I381N	probably benign	Het
Abcd4	C	T	12: 84,658,533 (GRCm39)	M223I	probably benign	Het
Adgrf2	A	G	17: 43,023,979 (GRCm39)	V164A	probably damaging	Het
Ahdc1	G	A	4: 132,793,297 (GRCm39)	A1513T	possibly damaging	Het
Akap13	T	C	7: 75,235,929 (GRCm39)	M168T	probably damaging	Het
Aox1	C	T	1: 58,095,374 (GRCm39)	T196I	probably benign	Het
Aqr	A	G	2: 113,949,150 (GRCm39)		probably benign	Het
Astn1	A	G	1: 158,495,102 (GRCm39)	E1042G	possibly damaging	Het
Azi2	A	G	9: 117,876,508 (GRCm39)	D8G	possibly damaging	Het
Bcam	T	C	7: 19,498,118 (GRCm39)	T302A	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Ceacam5	G	A	7: 17,493,263 (GRCm39)	S762N	possibly damaging	Het
Cecr2	T	C	6: 120,735,221 (GRCm39)	L819P	probably damaging	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Chd2	A	G	7: 73,121,538 (GRCm39)		probably benign	Het
Col7a1	G	T	9: 108,793,508 (GRCm39)	G1357*	probably null	Het
Cux1	A	G	5: 136,594,397 (GRCm39)		probably benign	Het
Cwh43	A	T	5: 73,595,835 (GRCm39)	I535F	probably damaging	Het
Dexi	A	T	16: 10,360,553 (GRCm39)	M1K	probably null	Het
Dnah12	T	C	14: 26,534,747 (GRCm39)	V2081A	probably benign	Het
Efcab5	A	T	11: 77,007,008 (GRCm39)	L872Q	probably damaging	Het
Enpp7	A	G	11: 118,881,344 (GRCm39)	Y163C	probably damaging	Het
Fam221a	T	C	6: 49,349,548 (GRCm39)	Y38H	probably damaging	Het
Foxred1	A	G	9: 35,122,186 (GRCm39)	M1T	probably null	Het
Fscn3	C	T	6: 28,428,091 (GRCm39)	T26I	possibly damaging	Het
Galp	A	T	7: 6,216,836 (GRCm39)	D72V	probably damaging	Het
Gm9843	A	G	16: 76,200,419 (GRCm39)		noncoding transcript	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Lmbrd1	T	C	1: 24,732,076 (GRCm39)	Y98H	probably damaging	Het
Lrrc63	T	G	14: 75,344,776 (GRCm39)	Y437S	probably benign	Het
Macc1	A	G	12: 119,410,576 (GRCm39)	E448G	probably benign	Het
Madcam1	A	G	10: 79,504,194 (GRCm39)	H404R	probably benign	Het
Mink1	G	T	11: 70,499,776 (GRCm39)	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,973,131 (GRCm39)	I1045V	probably benign	Het
Mroh3	T	C	1: 136,113,714 (GRCm39)	T692A	probably benign	Het
Myo15a	A	T	11: 60,370,057 (GRCm39)	E939V	possibly damaging	Het
Naip2	A	G	13: 100,298,410 (GRCm39)	F542S	probably damaging	Het
Napsa	A	G	7: 44,230,852 (GRCm39)	Y73C	probably damaging	Het
Ndst4	A	T	3: 125,355,154 (GRCm39)	H354L	possibly damaging	Het
Neil1	A	T	9: 57,054,254 (GRCm39)	V22E	probably damaging	Het
Nol4	T	C	18: 23,172,994 (GRCm39)	I36V	probably damaging	Het
Nprl3	G	A	11: 32,205,464 (GRCm39)	T111I	probably damaging	Het
Or12k8	A	G	2: 36,975,517 (GRCm39)	M81T	possibly damaging	Het
Or1e26	A	T	11: 73,479,731 (GRCm39)	Y278N	probably damaging	Het
Or4p22	C	A	2: 88,317,787 (GRCm39)	T237N	probably damaging	Het
Pald1	G	A	10: 61,178,144 (GRCm39)	T624I	possibly damaging	Het
Pcdhb13	C	T	18: 37,576,786 (GRCm39)	P388L	probably damaging	Het
Pcdhga6	T	C	18: 37,840,976 (GRCm39)	V232A	probably damaging	Het
Pde6b	A	G	5: 108,570,928 (GRCm39)	I388V	probably damaging	Het
Phactr2	C	A	10: 13,264,476 (GRCm39)		probably benign	Het
Prdx5	T	C	19: 6,885,477 (GRCm39)	D56G	probably damaging	Het
Ptprh	A	T	7: 4,574,969 (GRCm39)	I350N	probably damaging	Het
Rangap1	C	A	15: 81,594,661 (GRCm39)	E389D	probably benign	Het
Reln	A	G	5: 22,109,732 (GRCm39)	V3126A	probably damaging	Het
Rpl21	G	A	5: 146,771,847 (GRCm39)	G59S	possibly damaging	Het
Rsph6a	G	A	7: 18,791,475 (GRCm39)	V215M	probably damaging	Het
Smcp	T	C	3: 92,491,431 (GRCm39)	K139E	unknown	Het
Stag1	A	G	9: 100,771,671 (GRCm39)	T699A	probably benign	Het
Tars3	G	A	7: 65,338,700 (GRCm39)		probably null	Het
Tle1	G	T	4: 72,044,659 (GRCm39)	H459Q	possibly damaging	Het
Ttn	G	A	2: 76,561,363 (GRCm39)	P27302S	probably damaging	Het
Ttn	C	T	2: 76,571,610 (GRCm39)	V26428I	probably damaging	Het
Usp53	T	C	3: 122,742,968 (GRCm39)	E656G	probably benign	Het
Vmn1r218	A	T	13: 23,321,081 (GRCm39)	N63Y	probably damaging	Het
Vmn1r79	A	G	7: 11,910,139 (GRCm39)	N40S	possibly damaging	Het
Wdr35	A	G	12: 9,077,648 (GRCm39)	D1107G	possibly damaging	Het
Zfp101	A	G	17: 33,600,880 (GRCm39)	M292T	probably benign	Het
Zfp108	T	A	7: 23,961,270 (GRCm39)	C620*	probably null	Het
Zscan4b	T	C	7: 10,635,818 (GRCm39)	T170A	probably benign	Het

Other mutations in Cct6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02227:Cct6b	APN	11	82,632,217 (GRCm39)	missense	probably damaging	1.00
IGL02606:Cct6b	APN	11	82,627,271 (GRCm39)	missense	probably damaging	1.00
IGL02707:Cct6b	APN	11	82,645,780 (GRCm39)	splice site	probably benign
IGL03081:Cct6b	APN	11	82,654,995 (GRCm39)	nonsense	probably null
R0032:Cct6b	UTSW	11	82,644,469 (GRCm39)	missense	possibly damaging	0.87
R0395:Cct6b	UTSW	11	82,630,506 (GRCm39)	missense	probably benign
R0556:Cct6b	UTSW	11	82,610,270 (GRCm39)	splice site	probably benign
R0631:Cct6b	UTSW	11	82,627,914 (GRCm39)	splice site	probably null
R1456:Cct6b	UTSW	11	82,644,446 (GRCm39)	splice site	probably benign
R4791:Cct6b	UTSW	11	82,632,830 (GRCm39)	splice site	probably null
R5154:Cct6b	UTSW	11	82,630,521 (GRCm39)	missense	probably damaging	1.00
R5256:Cct6b	UTSW	11	82,655,046 (GRCm39)	missense	probably damaging	0.98
R5338:Cct6b	UTSW	11	82,653,015 (GRCm39)	missense	possibly damaging	0.94
R5455:Cct6b	UTSW	11	82,645,943 (GRCm39)	missense	probably benign	0.04
R5560:Cct6b	UTSW	11	82,632,239 (GRCm39)	missense	probably damaging	1.00
R5616:Cct6b	UTSW	11	82,632,175 (GRCm39)	missense	probably damaging	1.00
R5644:Cct6b	UTSW	11	82,613,281 (GRCm39)	missense	probably benign	0.02
R6862:Cct6b	UTSW	11	82,610,785 (GRCm39)	missense	probably damaging	1.00
R7960:Cct6b	UTSW	11	82,632,221 (GRCm39)	missense	possibly damaging	0.94
R8240:Cct6b	UTSW	11	82,614,650 (GRCm39)	missense	probably damaging	1.00
R8785:Cct6b	UTSW	11	82,632,157 (GRCm39)	missense	probably damaging	1.00
R8943:Cct6b	UTSW	11	82,654,959 (GRCm39)	utr 5 prime	probably benign
R9527:Cct6b	UTSW	11	82,630,447 (GRCm39)	critical splice donor site	probably null
R9674:Cct6b	UTSW	11	82,645,838 (GRCm39)	missense	probably damaging	1.00
X0060:Cct6b	UTSW	11	82,632,136 (GRCm39)	missense	probably benign	0.00
Z1176:Cct6b	UTSW	11	82,654,891 (GRCm39)	start gained	probably benign
Z1176:Cct6b	UTSW	11	82,614,765 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGGTACACGGGAGCTTTC -3'
(R):5'- CAGTGGCTTTCCGCATCATAG -3'

Sequencing Primer
(F):5'- GGTACACGGGAGCTTTCTCTTTAAC -3'
(R):5'- GTGGCTTTCCGCATCATAGTTTCTG -3'

Posted On

2015-01-23