Incidental Mutation 'IGL01704:Cct8l1'
ID |
104532 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cct8l1
|
Ensembl Gene |
ENSMUSG00000038044 |
Gene Name |
chaperonin containing TCP1 subunit 8-like 1 |
Synonyms |
LOC242891, Gm443 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.329)
|
Stock # |
IGL01704
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
25721065-25723025 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 25722097 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 271
(S271T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044932
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045016]
|
AlphaFold |
Q80YT3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045016
AA Change: S271T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000044932 Gene: ENSMUSG00000038044 AA Change: S271T
Domain | Start | End | E-Value | Type |
Pfam:Cpn60_TCP1
|
52 |
533 |
6.3e-116 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Brsk1 |
A |
G |
7: 4,707,260 (GRCm39) |
E271G |
probably benign |
Het |
Card9 |
A |
G |
2: 26,246,874 (GRCm39) |
F325L |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,800,979 (GRCm39) |
Y125H |
probably benign |
Het |
Csn1s2b |
T |
G |
5: 87,960,970 (GRCm39) |
S25R |
probably damaging |
Het |
Dnmt1 |
C |
T |
9: 20,821,476 (GRCm39) |
V1227I |
probably damaging |
Het |
Fpr1 |
G |
A |
17: 18,097,234 (GRCm39) |
R252W |
possibly damaging |
Het |
Gm15155 |
T |
A |
X: 155,086,252 (GRCm39) |
D69E |
unknown |
Het |
Hltf |
T |
C |
3: 20,137,910 (GRCm39) |
|
probably benign |
Het |
Hnrnpr |
A |
G |
4: 136,056,692 (GRCm39) |
I130V |
possibly damaging |
Het |
Klra9 |
G |
T |
6: 130,166,744 (GRCm39) |
S40* |
probably null |
Het |
Ldoc1 |
C |
A |
X: 60,753,537 (GRCm39) |
Y74* |
probably null |
Het |
Lias |
G |
T |
5: 65,562,673 (GRCm39) |
V318F |
probably damaging |
Het |
Mtss1 |
A |
G |
15: 58,926,932 (GRCm39) |
V48A |
possibly damaging |
Het |
Myo9b |
C |
T |
8: 71,812,286 (GRCm39) |
P2019L |
probably damaging |
Het |
Ogdhl |
T |
C |
14: 32,059,588 (GRCm39) |
|
probably benign |
Het |
Or5b97 |
T |
C |
19: 12,879,103 (GRCm39) |
I14V |
probably benign |
Het |
Parp4 |
A |
G |
14: 56,839,783 (GRCm39) |
D497G |
probably damaging |
Het |
Pcnx3 |
T |
C |
19: 5,717,504 (GRCm39) |
D1535G |
probably damaging |
Het |
Pcx |
G |
T |
19: 4,671,088 (GRCm39) |
K1103N |
probably damaging |
Het |
Pdgfd |
G |
A |
9: 6,337,327 (GRCm39) |
V220M |
probably damaging |
Het |
Pola2 |
A |
G |
19: 5,992,047 (GRCm39) |
S542P |
probably damaging |
Het |
Ppip5k1 |
G |
A |
2: 121,142,555 (GRCm39) |
T1278M |
possibly damaging |
Het |
Pramel11 |
C |
T |
4: 143,622,201 (GRCm39) |
D385N |
probably benign |
Het |
Ralgapb |
T |
C |
2: 158,262,795 (GRCm39) |
V11A |
possibly damaging |
Het |
Rhox2f |
T |
A |
X: 36,753,634 (GRCm39) |
V124E |
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,340,702 (GRCm39) |
|
probably null |
Het |
Slc38a10 |
T |
C |
11: 120,041,913 (GRCm39) |
|
probably benign |
Het |
Smco1 |
T |
C |
16: 32,092,704 (GRCm39) |
V125A |
probably benign |
Het |
Tg |
A |
T |
15: 66,543,200 (GRCm39) |
Q38L |
probably damaging |
Het |
Trpv5 |
A |
T |
6: 41,630,192 (GRCm39) |
S633T |
possibly damaging |
Het |
Vmn2r97 |
T |
C |
17: 19,168,073 (GRCm39) |
F776L |
probably damaging |
Het |
Zranb3 |
A |
C |
1: 127,895,676 (GRCm39) |
V724G |
possibly damaging |
Het |
|
Other mutations in Cct8l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02186:Cct8l1
|
APN |
5 |
25,721,836 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02322:Cct8l1
|
APN |
5 |
25,722,581 (GRCm39) |
missense |
probably benign |
0.00 |
G1citation:Cct8l1
|
UTSW |
5 |
25,722,937 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1478:Cct8l1
|
UTSW |
5 |
25,722,767 (GRCm39) |
missense |
probably benign |
0.09 |
R1764:Cct8l1
|
UTSW |
5 |
25,722,097 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1772:Cct8l1
|
UTSW |
5 |
25,722,697 (GRCm39) |
missense |
probably damaging |
0.99 |
R2680:Cct8l1
|
UTSW |
5 |
25,722,133 (GRCm39) |
missense |
probably benign |
0.24 |
R3153:Cct8l1
|
UTSW |
5 |
25,722,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R4773:Cct8l1
|
UTSW |
5 |
25,722,754 (GRCm39) |
missense |
probably benign |
0.40 |
R4937:Cct8l1
|
UTSW |
5 |
25,721,891 (GRCm39) |
missense |
probably benign |
0.37 |
R5071:Cct8l1
|
UTSW |
5 |
25,721,881 (GRCm39) |
missense |
probably benign |
0.00 |
R5072:Cct8l1
|
UTSW |
5 |
25,721,881 (GRCm39) |
missense |
probably benign |
0.00 |
R5073:Cct8l1
|
UTSW |
5 |
25,721,881 (GRCm39) |
missense |
probably benign |
0.00 |
R5074:Cct8l1
|
UTSW |
5 |
25,721,881 (GRCm39) |
missense |
probably benign |
0.00 |
R5432:Cct8l1
|
UTSW |
5 |
25,721,305 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5507:Cct8l1
|
UTSW |
5 |
25,721,377 (GRCm39) |
missense |
probably benign |
|
R5603:Cct8l1
|
UTSW |
5 |
25,721,497 (GRCm39) |
missense |
probably benign |
0.39 |
R5950:Cct8l1
|
UTSW |
5 |
25,722,741 (GRCm39) |
missense |
probably benign |
|
R6822:Cct8l1
|
UTSW |
5 |
25,722,937 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8171:Cct8l1
|
UTSW |
5 |
25,721,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R8808:Cct8l1
|
UTSW |
5 |
25,722,210 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8902:Cct8l1
|
UTSW |
5 |
25,722,908 (GRCm39) |
missense |
probably benign |
0.00 |
R9368:Cct8l1
|
UTSW |
5 |
25,721,336 (GRCm39) |
missense |
probably benign |
0.09 |
|
Posted On |
2014-01-21 |