Incidental Mutation 'IGL02375:Ccdc15'
| ID |
291071 |
| 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: 0.099)
|
| Stock # |
IGL02375
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
37187131-37259728 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37215628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 618
(D618G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037275]
[ENSMUST00000213633]
|
| AlphaFold |
Q8C9M2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037275
AA Change: D631G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000036784
Gene: ENSMUSG00000034303
AA Change: D631G
| 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 damaging
Transcript: ENSMUST00000213633
AA Change: D618G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214258
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Gene trapped(2) |
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,854,813 (GRCm39) |
K76N |
possibly damaging |
Het |
| Agxt |
A |
G |
1: 93,063,425 (GRCm39) |
E109G |
probably damaging |
Het |
| Alcam |
T |
C |
16: 52,109,299 (GRCm39) |
T325A |
probably benign |
Het |
| Apol7c |
T |
C |
15: 77,413,049 (GRCm39) |
E67G |
probably damaging |
Het |
| Bco1 |
C |
A |
8: 117,840,178 (GRCm39) |
S232Y |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,652,884 (GRCm39) |
V763D |
probably damaging |
Het |
| Cimip1 |
A |
G |
2: 173,364,496 (GRCm39) |
M14V |
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,783,312 (GRCm39) |
N1603S |
unknown |
Het |
| Cyp4v3 |
A |
G |
8: 45,761,411 (GRCm39) |
|
probably null |
Het |
| Eml5 |
A |
T |
12: 98,810,346 (GRCm39) |
V870E |
probably damaging |
Het |
| Epn2 |
A |
G |
11: 61,410,497 (GRCm39) |
V512A |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,504,185 (GRCm39) |
R321G |
probably damaging |
Het |
| Garin3 |
G |
T |
11: 46,297,379 (GRCm39) |
V228L |
probably damaging |
Het |
| Gprasp1 |
T |
C |
X: 134,701,552 (GRCm39) |
S582P |
probably damaging |
Het |
| Grhl2 |
T |
C |
15: 37,291,821 (GRCm39) |
V303A |
probably damaging |
Het |
| Grik1 |
A |
T |
16: 87,743,444 (GRCm39) |
F594L |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,309,925 (GRCm39) |
K722E |
probably benign |
Het |
| Htr5b |
G |
A |
1: 121,455,564 (GRCm39) |
R119C |
probably damaging |
Het |
| Ifit2 |
T |
C |
19: 34,551,737 (GRCm39) |
S426P |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,978,698 (GRCm39) |
Y234C |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,222,598 (GRCm39) |
F511I |
probably benign |
Het |
| Mtfmt |
T |
C |
9: 65,346,849 (GRCm39) |
W148R |
probably damaging |
Het |
| Myo1c |
C |
A |
11: 75,552,400 (GRCm39) |
T391N |
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 71,004,339 (GRCm39) |
L710* |
probably null |
Het |
| Nlrp1b |
A |
G |
11: 71,052,506 (GRCm39) |
I971T |
probably damaging |
Het |
| Nup43 |
A |
G |
10: 7,549,358 (GRCm39) |
D171G |
probably damaging |
Het |
| Or5b12b |
A |
G |
19: 12,861,305 (GRCm39) |
E20G |
probably benign |
Het |
| P2rx7 |
T |
C |
5: 122,811,719 (GRCm39) |
|
probably benign |
Het |
| Pgap6 |
T |
A |
17: 26,338,473 (GRCm39) |
Y512N |
probably benign |
Het |
| Poli |
C |
T |
18: 70,656,363 (GRCm39) |
G155R |
probably damaging |
Het |
| Rad9b |
T |
C |
5: 122,471,405 (GRCm39) |
S220G |
possibly damaging |
Het |
| Rgn |
C |
T |
X: 20,416,700 (GRCm39) |
S28L |
probably damaging |
Het |
| Tcp11l2 |
G |
A |
10: 84,440,932 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
G |
A |
7: 96,353,344 (GRCm39) |
V379I |
possibly damaging |
Het |
| Thsd7a |
A |
T |
6: 12,343,264 (GRCm39) |
C1118S |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,667,664 (GRCm39) |
Y776H |
probably damaging |
Het |
| Trpv4 |
T |
C |
5: 114,774,418 (GRCm39) |
N222S |
probably benign |
Het |
| Tut1 |
C |
T |
19: 8,941,403 (GRCm39) |
R397C |
probably damaging |
Het |
| Vmn1r72 |
T |
A |
7: 11,403,672 (GRCm39) |
T259S |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,149,423 (GRCm39) |
S2P |
possibly damaging |
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 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation