Incidental Mutation 'R3077:Cabcoco1'
| ID |
265260 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cabcoco1
|
| Ensembl Gene |
ENSMUSG00000019945 |
| Gene Name |
ciliary associated calcium binding coiled-coil 1 |
| Synonyms |
1700040L02Rik |
| MMRRC Submission |
040567-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R3077 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
68266783-68377726 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 68361475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 8
(Y8S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020103]
[ENSMUST00000166919]
|
| AlphaFold |
Q8CDT7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020103
AA Change: Y108S
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000020103
Gene: ENSMUSG00000019945
AA Change: Y108S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLAMP
|
93 |
192 |
1e-26 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166919
AA Change: Y8S
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128895
Gene: ENSMUSG00000019945
AA Change: Y8S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLAMP
|
1 |
94 |
1.2e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220037
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,306,764 (GRCm39) |
I1981V |
probably benign |
Het |
| Adgrd1 |
A |
T |
5: 129,206,169 (GRCm39) |
I248F |
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,479,278 (GRCm39) |
I1446V |
probably damaging |
Het |
| Champ1 |
T |
C |
8: 13,928,832 (GRCm39) |
V330A |
probably benign |
Het |
| Dnajc8 |
A |
G |
4: 132,271,974 (GRCm39) |
D70G |
probably damaging |
Het |
| Kif14 |
T |
G |
1: 136,447,383 (GRCm39) |
I1396S |
possibly damaging |
Het |
| Mnt |
G |
C |
11: 74,733,936 (GRCm39) |
|
probably benign |
Het |
| Nhsl2 |
C |
T |
X: 101,121,201 (GRCm39) |
R62W |
probably damaging |
Het |
| Or1e29 |
G |
A |
11: 73,667,466 (GRCm39) |
P229L |
possibly damaging |
Het |
| Or51a7 |
G |
T |
7: 102,615,223 (GRCm39) |
K305N |
probably benign |
Het |
| Pcdhb11 |
C |
T |
18: 37,555,297 (GRCm39) |
T209I |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,293,588 (GRCm39) |
|
probably null |
Het |
| Phactr4 |
A |
G |
4: 132,125,307 (GRCm39) |
M1T |
probably null |
Het |
| Pwwp2a |
A |
G |
11: 43,596,212 (GRCm39) |
N184S |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,046,157 (GRCm39) |
V958A |
probably damaging |
Het |
| Smc3 |
A |
G |
19: 53,616,322 (GRCm39) |
E449G |
probably benign |
Het |
| Snap91 |
T |
A |
9: 86,720,907 (GRCm39) |
Y96F |
possibly damaging |
Het |
| Trim34b |
A |
G |
7: 103,980,508 (GRCm39) |
R199G |
possibly damaging |
Het |
| Unc45a |
A |
C |
7: 79,988,680 (GRCm39) |
V112G |
probably damaging |
Het |
| Vwa8 |
A |
T |
14: 79,335,782 (GRCm39) |
N1413Y |
probably benign |
Het |
| Zcchc9 |
A |
T |
13: 91,954,101 (GRCm39) |
N51K |
probably benign |
Het |
| Zfp628 |
A |
G |
7: 4,924,199 (GRCm39) |
E807G |
possibly damaging |
Het |
| Zfp647 |
A |
T |
15: 76,802,209 (GRCm39) |
M1K |
probably null |
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 |
|
IGL00644:Cabcoco1
|
APN |
10 |
68,369,730 (GRCm39) |
missense |
probably benign |
0.18 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGAGAAATGAGCTGCCC -3'
(R):5'- GCTTTCAAAACTTCCGGAGAC -3'
Sequencing Primer
(F):5'- TGCCCCGGTTGTATCTAAGAAAC -3'
(R):5'- TCAAAACTTCCGGAGACTGTTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation