Incidental Mutation 'F6893:Ccdc15'
| ID |
195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc15
|
| Ensembl Gene |
ENSMUSG00000034303 |
| Gene Name |
coiled-coil domain containing 15 |
| Synonyms |
A630039F14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
F6893 (G3)
of strain
busy
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
37187131-37259728 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37226936 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 346
(T346I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037275]
[ENSMUST00000213633]
[ENSMUST00000215116]
|
| AlphaFold |
Q8C9M2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037275
AA Change: T346I
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000036784
Gene: ENSMUSG00000034303
AA Change: T346I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
80 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
109 |
N/A |
INTRINSIC |
|
coiled coil region
|
173 |
202 |
N/A |
INTRINSIC |
|
coiled coil region
|
652 |
686 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213633
AA Change: T333I
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215116
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216060
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217440
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
|
| Validation Efficiency |
88% (165/188) |
| Allele List at MGI |
All alleles(2) : Gene trapped(2) |
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
A |
7: 119,924,261 (GRCm39) |
V1638M |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,258,636 (GRCm39) |
R972Q |
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,972,853 (GRCm39) |
|
probably benign |
Het |
| Bpifa6 |
G |
T |
2: 153,829,078 (GRCm39) |
D202Y |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,712,266 (GRCm39) |
R1731H |
probably benign |
Het |
| Ces4a |
A |
G |
8: 105,873,859 (GRCm39) |
R443G |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,157,620 (GRCm39) |
Q175R |
possibly damaging |
Het |
| Dpyd |
T |
A |
3: 118,597,783 (GRCm39) |
|
probably null |
Het |
| Dscam |
G |
T |
16: 96,857,660 (GRCm39) |
H117N |
possibly damaging |
Het |
| F13a1 |
A |
G |
13: 37,155,999 (GRCm39) |
Y205H |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 15,918,085 (GRCm39) |
L1446R |
probably damaging |
Homo |
| Golga4 |
T |
C |
9: 118,382,525 (GRCm39) |
L515S |
probably damaging |
Het |
| Hoxb1 |
A |
T |
11: 96,256,728 (GRCm39) |
T26S |
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,238,481 (GRCm39) |
T567P |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,359,755 (GRCm39) |
V365A |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,485,242 (GRCm39) |
I127M |
possibly damaging |
Het |
| Mpi |
A |
T |
9: 57,453,832 (GRCm39) |
M230K |
probably benign |
Homo |
| Myh4 |
A |
G |
11: 67,146,283 (GRCm39) |
D1447G |
probably null |
Homo |
| Or1f19 |
A |
G |
16: 3,411,027 (GRCm39) |
I256V |
possibly damaging |
Het |
| Or1j4 |
A |
G |
2: 36,740,819 (GRCm39) |
T254A |
probably benign |
Het |
| Panx2 |
T |
C |
15: 88,952,213 (GRCm39) |
Y227H |
probably damaging |
Homo |
| Pdzd7 |
A |
G |
19: 45,025,173 (GRCm39) |
W441R |
probably damaging |
Het |
| Poldip2 |
A |
G |
11: 78,410,020 (GRCm39) |
I267M |
probably damaging |
Homo |
| Pros1 |
T |
A |
16: 62,745,002 (GRCm39) |
V539E |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,450,425 (GRCm39) |
M4157T |
probably benign |
Het |
| Slc45a3 |
A |
G |
1: 131,909,075 (GRCm39) |
E424G |
probably benign |
Homo |
| Slc9a1 |
A |
G |
4: 133,149,457 (GRCm39) |
E761G |
probably benign |
Homo |
| Stab2 |
G |
A |
10: 86,691,035 (GRCm39) |
P2178L |
probably damaging |
Het |
| Syt4 |
C |
T |
18: 31,577,274 (GRCm39) |
V27I |
possibly damaging |
Homo |
| Thumpd1 |
T |
A |
7: 119,319,799 (GRCm39) |
K56* |
probably null |
Het |
| Tpr |
A |
G |
1: 150,269,313 (GRCm39) |
K19E |
possibly damaging |
Homo |
| Ttll10 |
A |
G |
4: 156,132,775 (GRCm39) |
I74T |
probably benign |
Het |
| Txnrd1 |
C |
T |
10: 82,702,823 (GRCm39) |
Q95* |
probably null |
Homo |
| Zc3h7b |
A |
G |
15: 81,662,872 (GRCm39) |
E421G |
possibly damaging |
Homo |
| Zc3hc1 |
G |
T |
6: 30,387,525 (GRCm39) |
D51E |
probably benign |
Homo |
|
| Other mutations in Ccdc15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00503:Ccdc15
|
APN |
9 |
37,231,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00823:Ccdc15
|
APN |
9 |
37,231,709 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00979:Ccdc15
|
APN |
9 |
37,227,786 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01380:Ccdc15
|
APN |
9 |
37,187,853 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01832:Ccdc15
|
APN |
9 |
37,222,640 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01845:Ccdc15
|
APN |
9 |
37,226,532 (GRCm39) |
nonsense |
probably null |
|
|
IGL02375:Ccdc15
|
APN |
9 |
37,215,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
FR4304:Ccdc15
|
UTSW |
9 |
37,226,453 (GRCm39) |
frame shift |
probably null |
|
|
FR4449:Ccdc15
|
UTSW |
9 |
37,226,454 (GRCm39) |
frame shift |
probably null |
|
|
R1743:Ccdc15
|
UTSW |
9 |
37,188,773 (GRCm39) |
nonsense |
probably null |
|
|
R1848:Ccdc15
|
UTSW |
9 |
37,253,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1968:Ccdc15
|
UTSW |
9 |
37,259,091 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2006:Ccdc15
|
UTSW |
9 |
37,226,768 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2372:Ccdc15
|
UTSW |
9 |
37,226,801 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2932:Ccdc15
|
UTSW |
9 |
37,226,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3962:Ccdc15
|
UTSW |
9 |
37,231,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5585:Ccdc15
|
UTSW |
9 |
37,188,699 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5919:Ccdc15
|
UTSW |
9 |
37,231,692 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6000:Ccdc15
|
UTSW |
9 |
37,227,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6198:Ccdc15
|
UTSW |
9 |
37,225,581 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6476:Ccdc15
|
UTSW |
9 |
37,253,715 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7098:Ccdc15
|
UTSW |
9 |
37,255,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Ccdc15
|
UTSW |
9 |
37,226,574 (GRCm39) |
missense |
probably benign |
|
|
R7548:Ccdc15
|
UTSW |
9 |
37,188,723 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7627:Ccdc15
|
UTSW |
9 |
37,253,698 (GRCm39) |
missense |
unknown |
|
|
R7807:Ccdc15
|
UTSW |
9 |
37,226,678 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8157:Ccdc15
|
UTSW |
9 |
37,226,753 (GRCm39) |
missense |
probably benign |
|
|
R8230:Ccdc15
|
UTSW |
9 |
37,226,555 (GRCm39) |
missense |
probably benign |
|
|
R9492:Ccdc15
|
UTSW |
9 |
37,215,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9645:Ccdc15
|
UTSW |
9 |
37,227,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified a C to T transition at position 1363 of the Ccdc15 transcript in exon 7 of 16 total exons. The mutated nucleotide causes a threonine to isoleucine substitution at amino acid 346 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The Ccdc15 gene encodes an 823 amino acid protein that contains coiled coil domains. Four protein isoforms are produced by alternative splicing (Uniprot Q8C9M2). The function of this protein is unknown.
The T346I change is predicted to be possibly damaging by the PolyPhen program. |
| Posted On |
2010-04-30 |
Incidental Mutation