Incidental Mutation 'IGL00823:Ccdc15'
| ID |
9434 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc15
|
| Ensembl Gene |
ENSMUSG00000034303 |
| Gene Name |
coiled-coil domain containing 15 |
| Synonyms |
A630039F14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
IGL00823
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
37187131-37259728 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37231709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 205
(G205D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037275]
[ENSMUST00000213633]
[ENSMUST00000215116]
|
| AlphaFold |
Q8C9M2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037275
AA Change: G218D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000036784
Gene: ENSMUSG00000034303
AA Change: G218D
| 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 |
probably benign
Transcript: ENSMUST00000213633
AA Change: G205D
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215116
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216060
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217440
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Gene trapped(2) |
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
C |
5: 77,026,381 (GRCm39) |
|
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,308,758 (GRCm39) |
E39G |
probably benign |
Het |
| Anapc7 |
G |
A |
5: 122,571,540 (GRCm39) |
W205* |
probably null |
Het |
| Arhgap5 |
C |
T |
12: 52,565,525 (GRCm39) |
T832I |
possibly damaging |
Het |
| Arhgef10 |
T |
A |
8: 14,990,378 (GRCm39) |
|
probably benign |
Het |
| Atg5 |
A |
G |
10: 44,239,040 (GRCm39) |
T274A |
probably benign |
Het |
| Baiap2l2 |
G |
T |
15: 79,168,765 (GRCm39) |
|
probably benign |
Het |
| Brap |
T |
A |
5: 121,803,290 (GRCm39) |
M146K |
probably damaging |
Het |
| Brpf1 |
T |
C |
6: 113,298,847 (GRCm39) |
S1074P |
probably benign |
Het |
| Camta1 |
A |
C |
4: 151,169,058 (GRCm39) |
I231R |
probably benign |
Het |
| Cd6 |
G |
T |
19: 10,773,758 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
T |
G |
4: 11,783,412 (GRCm39) |
S219R |
possibly damaging |
Het |
| Cgn |
G |
A |
3: 94,674,519 (GRCm39) |
R873W |
probably damaging |
Het |
| Ctnna3 |
C |
T |
10: 63,373,322 (GRCm39) |
P41L |
possibly damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,659,888 (GRCm39) |
W484R |
probably benign |
Het |
| Dmd |
A |
G |
X: 83,469,419 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
C |
T |
11: 117,937,987 (GRCm39) |
V3347I |
probably benign |
Het |
| Fgd5 |
T |
A |
6: 91,965,440 (GRCm39) |
S400T |
possibly damaging |
Het |
| Kitl |
C |
A |
10: 99,923,206 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
A |
T |
2: 31,808,533 (GRCm39) |
D763V |
probably damaging |
Het |
| Lgmn |
T |
C |
12: 102,364,435 (GRCm39) |
|
probably benign |
Het |
| Lpcat2 |
T |
G |
8: 93,591,598 (GRCm39) |
W81G |
possibly damaging |
Het |
| Myh13 |
A |
G |
11: 67,246,773 (GRCm39) |
I1165V |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,456,343 (GRCm39) |
D599G |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,061,567 (GRCm39) |
N2099S |
probably benign |
Het |
| Nlrc4 |
T |
C |
17: 74,754,985 (GRCm39) |
D77G |
probably benign |
Het |
| Otub1 |
A |
G |
19: 7,181,416 (GRCm39) |
|
probably benign |
Het |
| Pabir2 |
A |
T |
X: 52,334,208 (GRCm39) |
C222S |
probably damaging |
Het |
| Pah |
A |
G |
10: 87,406,193 (GRCm39) |
Y174C |
probably null |
Het |
| Rbbp5 |
G |
A |
1: 132,417,444 (GRCm39) |
V88I |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,155,279 (GRCm39) |
R560H |
probably benign |
Het |
| Snx5 |
T |
C |
2: 144,097,485 (GRCm39) |
I217V |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,036,016 (GRCm39) |
S3769P |
probably damaging |
Het |
| Tent2 |
T |
C |
13: 93,322,905 (GRCm39) |
T15A |
probably benign |
Het |
| Tmem255b |
T |
C |
8: 13,507,054 (GRCm39) |
M261T |
probably benign |
Het |
| Top3b |
T |
C |
16: 16,705,486 (GRCm39) |
I417T |
probably damaging |
Het |
| Tspan2 |
T |
C |
3: 102,665,549 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,540,057 (GRCm39) |
T34310A |
possibly damaging |
Het |
| Ush2a |
G |
A |
1: 188,643,640 (GRCm39) |
C4334Y |
possibly damaging |
Het |
| Wdpcp |
A |
G |
11: 21,609,995 (GRCm39) |
D21G |
probably damaging |
Het |
| Yy2 |
A |
C |
X: 156,351,207 (GRCm39) |
D186E |
probably benign |
Het |
|
| 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 |
|
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 |
|
F6893:Ccdc15
|
UTSW |
9 |
37,226,936 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation