Incidental Mutation 'IGL00644:Cabcoco1'
| ID |
8425 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cabcoco1
|
| Ensembl Gene |
ENSMUSG00000019945 |
| Gene Name |
ciliary associated calcium binding coiled-coil 1 |
| Synonyms |
1700040L02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL00644
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
68266783-68377726 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 68369730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 38
(E38K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020103]
|
| AlphaFold |
Q8CDT7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020103
AA Change: E38K
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000020103
Gene: ENSMUSG00000019945
AA Change: E38K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLAMP
|
93 |
192 |
1e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220037
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 7 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Limch1 |
G |
T |
5: 67,173,895 (GRCm39) |
A375S |
probably benign |
Het |
| Lman1 |
G |
A |
18: 66,130,693 (GRCm39) |
Q165* |
probably null |
Het |
| Lrrc7 |
G |
A |
3: 157,908,005 (GRCm39) |
Q260* |
probably null |
Het |
| Pdzph1 |
T |
C |
17: 59,195,105 (GRCm39) |
D10G |
probably benign |
Het |
| Secisbp2l |
G |
A |
2: 125,585,764 (GRCm39) |
P863S |
probably damaging |
Het |
| Slc6a14 |
T |
A |
X: 21,605,895 (GRCm39) |
I588K |
probably benign |
Het |
| Txnrd1 |
T |
A |
10: 82,721,010 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cabcoco1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00503:Cabcoco1
|
APN |
10 |
68,377,635 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02253:Cabcoco1
|
APN |
10 |
68,272,107 (GRCm39) |
splice site |
probably null |
|
|
R0060:Cabcoco1
|
UTSW |
10 |
68,369,692 (GRCm39) |
splice site |
probably null |
|
|
R0629:Cabcoco1
|
UTSW |
10 |
68,352,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0968:Cabcoco1
|
UTSW |
10 |
68,272,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2108:Cabcoco1
|
UTSW |
10 |
68,267,153 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2154:Cabcoco1
|
UTSW |
10 |
68,267,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3076:Cabcoco1
|
UTSW |
10 |
68,361,475 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3077:Cabcoco1
|
UTSW |
10 |
68,361,475 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3872:Cabcoco1
|
UTSW |
10 |
68,352,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Cabcoco1
|
UTSW |
10 |
68,377,599 (GRCm39) |
missense |
probably benign |
|
|
R6299:Cabcoco1
|
UTSW |
10 |
68,272,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6460:Cabcoco1
|
UTSW |
10 |
68,352,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7127:Cabcoco1
|
UTSW |
10 |
68,272,160 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8509:Cabcoco1
|
UTSW |
10 |
68,267,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8719:Cabcoco1
|
UTSW |
10 |
68,272,671 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8911:Cabcoco1
|
UTSW |
10 |
68,377,584 (GRCm39) |
missense |
probably benign |
|
|
R9180:Cabcoco1
|
UTSW |
10 |
68,272,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Cabcoco1
|
UTSW |
10 |
68,272,725 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Posted On |
2012-12-06 |
Incidental Mutation