Incidental Mutation 'R0674:Tcp1'
| ID |
218597 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcp1
|
| Ensembl Gene |
ENSMUSG00000068039 |
| Gene Name |
t-complex protein 1 |
| Synonyms |
c-cpn, TRic, p63, Ccta, Tp63, CCT, Cct1, Tcp-1 |
| MMRRC Submission |
038859-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R0674 (G1)
|
| Quality Score |
43 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
13135216-13143954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13142131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 375
(I375T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043923]
[ENSMUST00000089024]
[ENSMUST00000151287]
[ENSMUST00000160378]
[ENSMUST00000143961]
|
| AlphaFold |
P11983 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043923
|
| SMART Domains |
Protein: ENSMUSP00000045912
Gene: ENSMUSG00000062480
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
8 |
267 |
2.9e-97 |
PFAM |
|
Pfam:Thiolase_C
|
274 |
396 |
1.3e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082703
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083171
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089024
AA Change: I326T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086418
Gene: ENSMUSG00000068039
AA Change: I326T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
1 |
486 |
1.9e-132 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129632
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133003
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134665
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151287
AA Change: I375T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116108
Gene: ENSMUSG00000068039
AA Change: I375T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
28 |
535 |
6.3e-156 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151715
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160921
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137289
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138709
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160378
|
| SMART Domains |
Protein: ENSMUSP00000125454
Gene: ENSMUSG00000062480
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
5 |
248 |
5.6e-91 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143961
|
| SMART Domains |
Protein: ENSMUSP00000116511
Gene: ENSMUSG00000068039
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
28 |
103 |
1.2e-29 |
PFAM |
|
| Meta Mutation Damage Score |
0.8800 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 90.4%
|
| Validation Efficiency |
97% (124/128) |
| 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 of this gene, encoding different isoforms, have been characterized. In addition, three pseudogenes that appear to be derived from this gene have been found. [provided by RefSeq, Jun 2010]
PHENOTYPE: There are two electrophoretic alleles known; allele a occurs in all complete t haplotype chromosomes and allele b in wild-type strains. There are multiple changes between the amino acid sequences of the TCP1A and TCP1B proteins encoded by the two alleles. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
A |
G |
3: 89,657,130 (GRCm39) |
|
probably benign |
Het |
| Adgrl2 |
A |
T |
3: 148,543,315 (GRCm39) |
M803K |
possibly damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,067,102 (GRCm39) |
|
probably benign |
Het |
| Atp2a3 |
T |
C |
11: 72,872,711 (GRCm39) |
I753T |
probably damaging |
Het |
| Bace2 |
G |
A |
16: 97,237,949 (GRCm39) |
V467M |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,098,775 (GRCm39) |
V1134E |
possibly damaging |
Het |
| Ccser2 |
A |
G |
14: 36,640,548 (GRCm39) |
C11R |
possibly damaging |
Het |
| Cd2ap |
T |
A |
17: 43,156,283 (GRCm39) |
I85F |
possibly damaging |
Het |
| Cd2bp2 |
C |
T |
7: 126,794,008 (GRCm39) |
E94K |
probably damaging |
Het |
| Chrna3 |
C |
A |
9: 54,922,456 (GRCm39) |
A451S |
probably damaging |
Het |
| Cmya5 |
C |
A |
13: 93,229,299 (GRCm39) |
V1930F |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,050,550 (GRCm39) |
T2229A |
probably benign |
Het |
| Csrnp2 |
A |
T |
15: 100,385,872 (GRCm39) |
L122H |
probably damaging |
Het |
| Cyp11b2 |
G |
A |
15: 74,727,393 (GRCm39) |
P96L |
probably damaging |
Het |
| Ddr1 |
G |
T |
17: 36,000,561 (GRCm39) |
S368* |
probably null |
Het |
| E2f1 |
T |
C |
2: 154,406,029 (GRCm39) |
K115E |
probably damaging |
Het |
| Erlec1 |
A |
T |
11: 30,885,073 (GRCm39) |
|
probably benign |
Het |
| Fus |
T |
A |
7: 127,571,948 (GRCm39) |
|
probably benign |
Het |
| Gml |
G |
A |
15: 74,685,709 (GRCm39) |
T92I |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,408,474 (GRCm39) |
S4567P |
probably damaging |
Het |
| Iglc2 |
A |
G |
16: 19,017,591 (GRCm39) |
S5P |
probably benign |
Het |
| Itgam |
T |
C |
7: 127,715,390 (GRCm39) |
V1028A |
possibly damaging |
Het |
| Krt222 |
T |
A |
11: 99,127,086 (GRCm39) |
N178I |
probably benign |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Luzp1 |
C |
T |
4: 136,270,768 (GRCm39) |
T997I |
possibly damaging |
Het |
| Maml1 |
G |
T |
11: 50,148,885 (GRCm39) |
Q952K |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,452,361 (GRCm39) |
E499G |
probably damaging |
Het |
| Map4k4 |
A |
T |
1: 40,042,975 (GRCm39) |
H118L |
probably damaging |
Het |
| Myzap |
T |
C |
9: 71,422,426 (GRCm39) |
D382G |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,359,707 (GRCm39) |
T510A |
probably benign |
Het |
| Nek6 |
G |
C |
2: 38,448,916 (GRCm39) |
G95R |
possibly damaging |
Het |
| Nphp3 |
T |
C |
9: 103,913,481 (GRCm39) |
|
probably null |
Het |
| Nr1d2 |
T |
C |
14: 18,215,086 (GRCm38) |
S309G |
probably benign |
Het |
| Nrcam |
A |
T |
12: 44,611,105 (GRCm39) |
I570F |
probably benign |
Het |
| Oas1d |
T |
C |
5: 121,058,049 (GRCm39) |
I331T |
probably benign |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or4f14 |
A |
T |
2: 111,743,018 (GRCm39) |
F86I |
probably benign |
Het |
| Or51b6 |
T |
C |
7: 103,556,462 (GRCm39) |
V272A |
probably benign |
Het |
| Pex5l |
A |
T |
3: 33,006,765 (GRCm39) |
W535R |
probably damaging |
Het |
| Pisd |
C |
T |
5: 32,931,781 (GRCm39) |
R202H |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,331,783 (GRCm39) |
N403S |
probably benign |
Het |
| Prdm12 |
A |
G |
2: 31,533,924 (GRCm39) |
I180M |
probably benign |
Het |
| Prpf6 |
A |
G |
2: 181,273,767 (GRCm39) |
T304A |
probably benign |
Het |
| Ptprm |
G |
A |
17: 67,498,336 (GRCm39) |
T35I |
possibly damaging |
Het |
| Ptx3 |
T |
A |
3: 66,132,148 (GRCm39) |
I223N |
probably damaging |
Het |
| Pygb |
G |
A |
2: 150,657,054 (GRCm39) |
|
probably null |
Het |
| Qrsl1 |
A |
G |
10: 43,771,997 (GRCm39) |
|
probably benign |
Het |
| Rad51ap2 |
T |
C |
12: 11,508,818 (GRCm39) |
|
probably null |
Het |
| Ralbp1 |
C |
T |
17: 66,159,748 (GRCm39) |
R505H |
probably benign |
Het |
| Rimbp3 |
T |
C |
16: 17,030,601 (GRCm39) |
S1342P |
probably benign |
Het |
| Slc22a14 |
C |
A |
9: 119,007,608 (GRCm39) |
R267L |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,032,498 (GRCm39) |
|
probably benign |
Het |
| Tiparp |
T |
C |
3: 65,460,586 (GRCm39) |
I525T |
probably benign |
Het |
| Tjp2 |
A |
G |
19: 24,108,680 (GRCm39) |
L144P |
probably benign |
Het |
| Tssk2 |
A |
G |
16: 17,716,930 (GRCm39) |
D111G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,775,823 (GRCm39) |
T1740A |
possibly damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,898,129 (GRCm39) |
D381E |
probably benign |
Het |
| Vsig10 |
C |
T |
5: 117,481,911 (GRCm39) |
T367M |
probably damaging |
Het |
| Wnt11 |
T |
C |
7: 98,495,735 (GRCm39) |
C80R |
probably damaging |
Het |
| Zar1 |
T |
A |
5: 72,737,643 (GRCm39) |
|
probably null |
Het |
| Zfp52 |
A |
T |
17: 21,782,108 (GRCm39) |
H652L |
probably damaging |
Het |
| Zpr1 |
T |
A |
9: 46,186,747 (GRCm39) |
L194Q |
probably damaging |
Het |
|
| Other mutations in Tcp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01624:Tcp1
|
APN |
17 |
13,138,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01859:Tcp1
|
APN |
17 |
13,141,571 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02635:Tcp1
|
APN |
17 |
13,142,296 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0164:Tcp1
|
UTSW |
17 |
13,141,634 (GRCm39) |
unclassified |
probably benign |
|
|
R0308:Tcp1
|
UTSW |
17 |
13,139,306 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0452:Tcp1
|
UTSW |
17 |
13,143,239 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0661:Tcp1
|
UTSW |
17 |
13,142,200 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1078:Tcp1
|
UTSW |
17 |
13,142,091 (GRCm39) |
unclassified |
probably benign |
|
|
R1434:Tcp1
|
UTSW |
17 |
13,141,493 (GRCm39) |
splice site |
probably null |
|
|
R1678:Tcp1
|
UTSW |
17 |
13,139,310 (GRCm39) |
missense |
probably benign |
|
|
R1801:Tcp1
|
UTSW |
17 |
13,141,089 (GRCm39) |
nonsense |
probably null |
|
|
R2063:Tcp1
|
UTSW |
17 |
13,139,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4061:Tcp1
|
UTSW |
17 |
13,139,750 (GRCm39) |
missense |
probably benign |
|
|
R4078:Tcp1
|
UTSW |
17 |
13,136,970 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5516:Tcp1
|
UTSW |
17 |
13,143,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5620:Tcp1
|
UTSW |
17 |
13,138,224 (GRCm39) |
splice site |
probably null |
|
|
R5764:Tcp1
|
UTSW |
17 |
13,135,489 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6729:Tcp1
|
UTSW |
17 |
13,142,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7112:Tcp1
|
UTSW |
17 |
13,136,760 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7614:Tcp1
|
UTSW |
17 |
13,141,540 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7718:Tcp1
|
UTSW |
17 |
13,141,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8194:Tcp1
|
UTSW |
17 |
13,141,621 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8239:Tcp1
|
UTSW |
17 |
13,139,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8781:Tcp1
|
UTSW |
17 |
13,143,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9065:Tcp1
|
UTSW |
17 |
13,139,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9231:Tcp1
|
UTSW |
17 |
13,136,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9347:Tcp1
|
UTSW |
17 |
13,136,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9402:Tcp1
|
UTSW |
17 |
13,141,505 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACATTGTTCCTGGTGCCTTATGC -3'
(R):5'- ACCCTATGCCTTTGAAAGCAGCC -3'
Sequencing Primer
(F):5'- atctgcctgcctctgcc -3'
(R):5'- GAAAGCAGCCTTACCATGCTTG -3'
|
| Posted On |
2014-08-18 |
Incidental Mutation