Incidental Mutation 'IGL02615:Ccdc51'
| ID |
300623 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc51
|
| Ensembl Gene |
ENSMUSG00000025645 |
| Gene Name |
coiled-coil domain containing 51 |
| Synonyms |
Mitok, 5730568A12Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.452)
|
| Stock # |
IGL02615
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
108911561-108921557 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108918503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 31
(T31S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026735]
|
| AlphaFold |
Q3URS9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026735
AA Change: T31S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026735
Gene: ENSMUSG00000025645
AA Change: T31S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
109 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
286 |
N/A |
INTRINSIC |
|
transmembrane domain
|
381 |
403 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134690
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
T |
5: 138,644,402 (GRCm39) |
E96* |
probably null |
Het |
| Adck5 |
C |
T |
15: 76,473,367 (GRCm39) |
S72L |
possibly damaging |
Het |
| Afdn |
A |
G |
17: 14,046,238 (GRCm39) |
H404R |
probably benign |
Het |
| Aph1c |
A |
T |
9: 66,726,688 (GRCm39) |
V222E |
possibly damaging |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Bcl2l13 |
A |
T |
6: 120,839,828 (GRCm39) |
D42V |
probably damaging |
Het |
| Bhlhe22 |
C |
T |
3: 18,109,064 (GRCm39) |
T38I |
possibly damaging |
Het |
| Ctbp2 |
A |
G |
7: 132,597,076 (GRCm39) |
I669T |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,739,704 (GRCm39) |
T998A |
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,189,672 (GRCm39) |
Y410C |
probably damaging |
Het |
| Gli2 |
T |
A |
1: 118,772,128 (GRCm39) |
N526Y |
probably damaging |
Het |
| Ighv1-64 |
A |
G |
12: 115,471,307 (GRCm39) |
I70T |
possibly damaging |
Het |
| Mphosph10 |
A |
T |
7: 64,030,793 (GRCm39) |
|
probably benign |
Het |
| Mrps34 |
A |
G |
17: 25,114,767 (GRCm39) |
|
probably null |
Het |
| Myo1f |
A |
T |
17: 33,823,630 (GRCm39) |
I1053L |
probably benign |
Het |
| Nckap5l |
G |
A |
15: 99,327,263 (GRCm39) |
P142L |
possibly damaging |
Het |
| Platr26 |
T |
A |
2: 71,560,770 (GRCm39) |
|
noncoding transcript |
Het |
| Rag2 |
T |
A |
2: 101,459,913 (GRCm39) |
Y74* |
probably null |
Het |
| Rnf213 |
A |
T |
11: 119,331,615 (GRCm39) |
M2275L |
probably damaging |
Het |
| Rsbn1 |
T |
A |
3: 103,861,068 (GRCm39) |
L498Q |
probably damaging |
Het |
| Scp2 |
A |
G |
4: 107,964,828 (GRCm39) |
V62A |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,979,401 (GRCm39) |
I1421V |
probably benign |
Het |
| Spata31f1e |
C |
T |
4: 42,793,027 (GRCm39) |
M368I |
probably benign |
Het |
| St6galnac4 |
A |
G |
2: 32,484,216 (GRCm39) |
H138R |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,143,768 (GRCm39) |
M1045K |
probably damaging |
Het |
| Tbxas1 |
C |
T |
6: 39,004,800 (GRCm39) |
T349M |
probably damaging |
Het |
| U2surp |
T |
G |
9: 95,375,284 (GRCm39) |
D146A |
probably benign |
Het |
| Usp38 |
T |
C |
8: 81,711,780 (GRCm39) |
M752V |
probably benign |
Het |
|
| Other mutations in Ccdc51 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02558:Ccdc51
|
APN |
9 |
108,921,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02806:Ccdc51
|
APN |
9 |
108,921,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0100:Ccdc51
|
UTSW |
9 |
108,921,066 (GRCm39) |
nonsense |
probably null |
|
|
R0137:Ccdc51
|
UTSW |
9 |
108,920,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Ccdc51
|
UTSW |
9 |
108,918,441 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0211:Ccdc51
|
UTSW |
9 |
108,918,441 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4540:Ccdc51
|
UTSW |
9 |
108,921,288 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4669:Ccdc51
|
UTSW |
9 |
108,920,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4770:Ccdc51
|
UTSW |
9 |
108,919,978 (GRCm39) |
missense |
probably benign |
|
|
R5364:Ccdc51
|
UTSW |
9 |
108,921,188 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6137:Ccdc51
|
UTSW |
9 |
108,918,483 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7146:Ccdc51
|
UTSW |
9 |
108,920,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7831:Ccdc51
|
UTSW |
9 |
108,921,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7886:Ccdc51
|
UTSW |
9 |
108,920,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9054:Ccdc51
|
UTSW |
9 |
108,918,482 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ccdc51
|
UTSW |
9 |
108,921,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ccdc51
|
UTSW |
9 |
108,921,216 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation