Incidental Mutation 'IGL00466:Ccdc59'
ID |
4669 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc59
|
Ensembl Gene |
ENSMUSG00000019897 |
Gene Name |
coiled-coil domain containing 59 |
Synonyms |
2300004H16Rik, D10Ertd718e |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00466
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
105677340-105683371 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 105683035 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 240
(S240N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020049]
|
AlphaFold |
Q8R2N0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020049
AA Change: S240N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000020049 Gene: ENSMUSG00000019897 AA Change: S240N
Domain | Start | End | E-Value | Type |
Pfam:rRNA_processing
|
48 |
239 |
2.5e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133538
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155406
|
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 |
Ablim1 |
C |
T |
19: 57,056,618 (GRCm39) |
A359T |
probably damaging |
Het |
Atm |
A |
G |
9: 53,410,412 (GRCm39) |
|
probably benign |
Het |
Chrm1 |
A |
T |
19: 8,655,438 (GRCm39) |
I48F |
probably benign |
Het |
Col28a1 |
T |
C |
6: 8,022,081 (GRCm39) |
|
probably benign |
Het |
Gys2 |
G |
A |
6: 142,409,016 (GRCm39) |
Q80* |
probably null |
Het |
Hck |
A |
T |
2: 152,978,653 (GRCm39) |
T289S |
probably benign |
Het |
Il1rapl2 |
A |
G |
X: 137,735,292 (GRCm39) |
D403G |
probably damaging |
Het |
Kif16b |
A |
T |
2: 142,689,955 (GRCm39) |
L319* |
probably null |
Het |
Kit |
T |
C |
5: 75,771,479 (GRCm39) |
I212T |
probably benign |
Het |
Mroh5 |
G |
A |
15: 73,664,638 (GRCm39) |
|
probably benign |
Het |
Muc6 |
T |
C |
7: 141,232,169 (GRCm39) |
Y986C |
possibly damaging |
Het |
Nln |
A |
C |
13: 104,172,153 (GRCm39) |
V641G |
probably damaging |
Het |
Nyap2 |
C |
A |
1: 81,169,695 (GRCm39) |
L151I |
probably damaging |
Het |
Plce1 |
A |
G |
19: 38,709,473 (GRCm39) |
Y1109C |
probably damaging |
Het |
Slc10a4 |
T |
C |
5: 73,169,263 (GRCm39) |
I296T |
probably damaging |
Het |
Slc35c1 |
T |
A |
2: 92,284,703 (GRCm39) |
I304F |
probably benign |
Het |
Stxbp2 |
C |
T |
8: 3,684,065 (GRCm39) |
A124V |
probably benign |
Het |
Stxbp5 |
A |
G |
10: 9,675,694 (GRCm39) |
Y642H |
probably damaging |
Het |
Tecta |
T |
C |
9: 42,243,844 (GRCm39) |
T2003A |
probably damaging |
Het |
Zfp804a |
C |
A |
2: 81,884,219 (GRCm39) |
L29I |
probably benign |
Het |
|
Other mutations in Ccdc59 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00466:Ccdc59
|
APN |
10 |
105,683,034 (GRCm39) |
missense |
probably benign |
0.01 |
R2173:Ccdc59
|
UTSW |
10 |
105,677,388 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2174:Ccdc59
|
UTSW |
10 |
105,677,388 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2870:Ccdc59
|
UTSW |
10 |
105,677,388 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2870:Ccdc59
|
UTSW |
10 |
105,677,388 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2873:Ccdc59
|
UTSW |
10 |
105,677,388 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2937:Ccdc59
|
UTSW |
10 |
105,677,388 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2938:Ccdc59
|
UTSW |
10 |
105,677,388 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4796:Ccdc59
|
UTSW |
10 |
105,677,429 (GRCm39) |
missense |
probably benign |
0.05 |
R5495:Ccdc59
|
UTSW |
10 |
105,681,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R7938:Ccdc59
|
UTSW |
10 |
105,677,455 (GRCm39) |
missense |
probably benign |
0.03 |
R9022:Ccdc59
|
UTSW |
10 |
105,683,007 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2012-04-20 |