Incidental Mutation 'IGL01466:Ccdc152'
ID |
88118 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc152
|
Ensembl Gene |
ENSMUSG00000091119 |
Gene Name |
coiled-coil domain containing 152 |
Synonyms |
ENSMUSG00000071814 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.201)
|
Stock # |
IGL01466
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
3309552-3333008 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 3323329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153740
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165386]
[ENSMUST00000226261]
[ENSMUST00000228405]
|
AlphaFold |
E9PX14 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000165386
|
SMART Domains |
Protein: ENSMUSP00000129305 Gene: ENSMUSG00000091119
Domain | Start | End | E-Value | Type |
coiled coil region
|
76 |
186 |
N/A |
INTRINSIC |
coiled coil region
|
211 |
250 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226261
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228405
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acr |
A |
G |
15: 89,458,197 (GRCm39) |
N293D |
probably benign |
Het |
Ankrd49 |
A |
G |
9: 14,692,645 (GRCm39) |
L173P |
probably damaging |
Het |
Cdh3 |
G |
T |
8: 107,263,227 (GRCm39) |
R92L |
possibly damaging |
Het |
Dnajc10 |
A |
T |
2: 80,151,631 (GRCm39) |
R137S |
probably benign |
Het |
Htra2 |
A |
G |
6: 83,031,304 (GRCm39) |
L35P |
probably damaging |
Het |
Il23r |
A |
T |
6: 67,403,626 (GRCm39) |
M425K |
probably benign |
Het |
Nfkb2 |
G |
T |
19: 46,296,455 (GRCm39) |
R241L |
probably damaging |
Het |
Nup205 |
A |
G |
6: 35,176,894 (GRCm39) |
D630G |
probably benign |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Peli2 |
T |
C |
14: 48,493,914 (GRCm39) |
Y379H |
probably damaging |
Het |
Plekhg6 |
G |
T |
6: 125,349,587 (GRCm39) |
|
probably benign |
Het |
Samd14 |
G |
T |
11: 94,914,081 (GRCm39) |
|
probably benign |
Het |
Setd7 |
A |
T |
3: 51,428,730 (GRCm39) |
*367R |
probably null |
Het |
Slc26a8 |
A |
G |
17: 28,873,922 (GRCm39) |
V355A |
probably benign |
Het |
Slc46a2 |
T |
A |
4: 59,911,926 (GRCm39) |
K429* |
probably null |
Het |
Styxl2 |
T |
G |
1: 165,928,073 (GRCm39) |
D513A |
probably damaging |
Het |
Tspan32 |
T |
C |
7: 142,568,691 (GRCm39) |
|
probably benign |
Het |
Unc80 |
T |
C |
1: 66,661,645 (GRCm39) |
V1690A |
probably benign |
Het |
Ush2a |
C |
A |
1: 188,643,819 (GRCm39) |
Q4394K |
probably benign |
Het |
Zfp277 |
C |
A |
12: 40,428,825 (GRCm39) |
G174V |
probably benign |
Het |
|
Other mutations in Ccdc152 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01543:Ccdc152
|
APN |
15 |
3,327,606 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0622:Ccdc152
|
UTSW |
15 |
3,327,660 (GRCm39) |
missense |
probably damaging |
0.96 |
R1605:Ccdc152
|
UTSW |
15 |
3,327,603 (GRCm39) |
missense |
probably damaging |
0.99 |
R2875:Ccdc152
|
UTSW |
15 |
3,327,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R2876:Ccdc152
|
UTSW |
15 |
3,327,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R4990:Ccdc152
|
UTSW |
15 |
3,330,639 (GRCm39) |
missense |
probably benign |
0.00 |
R5114:Ccdc152
|
UTSW |
15 |
3,312,319 (GRCm39) |
missense |
probably damaging |
0.99 |
R5732:Ccdc152
|
UTSW |
15 |
3,321,860 (GRCm39) |
critical splice donor site |
probably null |
|
R6336:Ccdc152
|
UTSW |
15 |
3,330,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R6704:Ccdc152
|
UTSW |
15 |
3,310,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R7593:Ccdc152
|
UTSW |
15 |
3,310,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R8300:Ccdc152
|
UTSW |
15 |
3,327,634 (GRCm39) |
missense |
probably benign |
0.00 |
R9061:Ccdc152
|
UTSW |
15 |
3,330,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-18 |