Incidental Mutation 'R5616:Cct6b'
| ID |
439539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cct6b
|
| Ensembl Gene |
ENSMUSG00000020698 |
| Gene Name |
chaperonin containing TCP1 subunit 6B |
| Synonyms |
CCTzeta-2, Cctz-2 |
| MMRRC Submission |
043159-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R5616 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
82610076-82655147 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 82632175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 271
(V271E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021040]
[ENSMUST00000100722]
|
| AlphaFold |
Q61390 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021040
AA Change: V271E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021040
Gene: ENSMUSG00000020698
AA Change: V271E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
30 |
526 |
1.1e-161 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100722
AA Change: V232E
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098288
Gene: ENSMUSG00000020698
AA Change: V232E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
4 |
486 |
9.7e-140 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120047
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
A |
T |
3: 121,566,009 (GRCm39) |
D443E |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,252,874 (GRCm39) |
D1037G |
probably benign |
Het |
| B3glct |
T |
A |
5: 149,653,399 (GRCm39) |
L148* |
probably null |
Het |
| Cacna1e |
G |
A |
1: 154,317,940 (GRCm39) |
P1481S |
probably damaging |
Het |
| Cacna1h |
C |
A |
17: 25,596,641 (GRCm39) |
R117L |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,389,483 (GRCm39) |
S1450P |
probably damaging |
Het |
| Cul1 |
G |
A |
6: 47,500,722 (GRCm39) |
R707H |
probably damaging |
Het |
| Dcakd |
A |
G |
11: 102,885,831 (GRCm39) |
L191P |
possibly damaging |
Het |
| Dhx32 |
T |
C |
7: 133,322,957 (GRCm39) |
*612W |
probably null |
Het |
| Disp1 |
T |
A |
1: 182,869,913 (GRCm39) |
T836S |
probably benign |
Het |
| Dppa4 |
T |
A |
16: 48,111,393 (GRCm39) |
V126D |
probably damaging |
Het |
| Fam98b |
A |
G |
2: 117,098,267 (GRCm39) |
T246A |
possibly damaging |
Het |
| Fkbp4 |
A |
T |
6: 128,410,517 (GRCm39) |
V273E |
probably damaging |
Het |
| Gpr31b |
A |
G |
17: 13,270,831 (GRCm39) |
Y113H |
probably damaging |
Het |
| Gpr33 |
T |
C |
12: 52,070,377 (GRCm39) |
I221V |
probably damaging |
Het |
| Klhl1 |
A |
G |
14: 96,755,729 (GRCm39) |
F9L |
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,208,695 (GRCm39) |
N449K |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,492,647 (GRCm39) |
S1363P |
probably damaging |
Het |
| Lrrc8a |
T |
C |
2: 30,145,366 (GRCm39) |
V60A |
probably benign |
Het |
| Matn3 |
A |
G |
12: 8,998,195 (GRCm39) |
H51R |
probably benign |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtrf1 |
T |
C |
14: 79,638,885 (GRCm39) |
C6R |
possibly damaging |
Het |
| Myh6 |
T |
C |
14: 55,194,038 (GRCm39) |
S784G |
probably benign |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,179,715 (GRCm39) |
Y401C |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,585 (GRCm39) |
E37G |
probably damaging |
Het |
| Pelp1 |
G |
A |
11: 70,285,688 (GRCm39) |
P727S |
possibly damaging |
Het |
| Prkca |
T |
C |
11: 107,869,169 (GRCm39) |
D472G |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,122,120 (GRCm38) |
H328R |
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,559,173 (GRCm39) |
E889K |
unknown |
Het |
| Rubcn |
T |
C |
16: 32,647,293 (GRCm39) |
D715G |
possibly damaging |
Het |
| Snurf |
C |
T |
7: 59,649,133 (GRCm39) |
E15K |
possibly damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
| Srp72 |
T |
G |
5: 77,135,781 (GRCm39) |
L237R |
probably damaging |
Het |
| Syne3 |
T |
C |
12: 104,921,937 (GRCm39) |
E406G |
probably damaging |
Het |
| Tgm2 |
A |
G |
2: 157,970,640 (GRCm39) |
S340P |
probably damaging |
Het |
| Trim41 |
GCCTAGGCGCCCA |
G |
11: 48,698,192 (GRCm39) |
|
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,653,657 (GRCm39) |
|
probably benign |
Het |
| Tsc22d2 |
G |
T |
3: 58,324,583 (GRCm39) |
|
probably benign |
Het |
| Vmn1r42 |
T |
C |
6: 89,822,084 (GRCm39) |
I162V |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,708,191 (GRCm39) |
|
probably null |
Het |
| Wnt3 |
T |
C |
11: 103,703,596 (GRCm39) |
|
probably null |
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 |
|
|
R3713:Cct6b
|
UTSW |
11 |
82,651,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CCTTACAAATGTCCACACAGTG -3'
(R):5'- CCTGGGTGGCTTCAAATTTG -3'
Sequencing Primer
(F):5'- AAATGCCCTGAGGGTCAGC -3'
(R):5'- GTGGCTTCAAATTTGTGAACCTC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation