Incidental Mutation 'IGL02867:Ccdc125'
ID |
362383 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc125
|
Ensembl Gene |
ENSMUSG00000048924 |
Gene Name |
coiled-coil domain containing 125 |
Synonyms |
5830436D01Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02867
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
100806225-100833748 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 100820790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130107
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057325]
[ENSMUST00000170347]
|
AlphaFold |
Q5U465 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057325
|
SMART Domains |
Protein: ENSMUSP00000058484 Gene: ENSMUSG00000048924
Domain | Start | End | E-Value | Type |
coiled coil region
|
101 |
193 |
N/A |
INTRINSIC |
coiled coil region
|
286 |
308 |
N/A |
INTRINSIC |
Blast:ETS
|
362 |
447 |
1e-35 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170347
|
SMART Domains |
Protein: ENSMUSP00000130107 Gene: ENSMUSG00000048924
Domain | Start | End | E-Value | Type |
coiled coil region
|
101 |
151 |
N/A |
INTRINSIC |
coiled coil region
|
260 |
282 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf2 |
T |
A |
5: 24,776,149 (GRCm39) |
Y310F |
probably benign |
Het |
Adarb1 |
C |
T |
10: 77,149,375 (GRCm39) |
V371I |
probably benign |
Het |
Antxr2 |
G |
T |
5: 98,125,509 (GRCm39) |
H249Q |
probably benign |
Het |
Arel1 |
A |
T |
12: 84,981,097 (GRCm39) |
N303K |
probably benign |
Het |
Bloc1s6 |
T |
C |
2: 122,584,604 (GRCm39) |
Y60H |
probably damaging |
Het |
Cxcl16 |
A |
T |
11: 70,349,892 (GRCm39) |
Y45N |
possibly damaging |
Het |
Dnajb3 |
T |
A |
1: 88,133,249 (GRCm39) |
Q51L |
probably benign |
Het |
Ear10 |
A |
G |
14: 44,160,726 (GRCm39) |
F34L |
probably damaging |
Het |
Fgf11 |
A |
G |
11: 69,690,498 (GRCm39) |
S100P |
possibly damaging |
Het |
Fpgs |
G |
A |
2: 32,575,891 (GRCm39) |
|
probably benign |
Het |
Fyb1 |
A |
T |
15: 6,609,527 (GRCm39) |
Q33H |
probably damaging |
Het |
Ints3 |
G |
T |
3: 90,300,143 (GRCm39) |
H925N |
probably damaging |
Het |
Krt16 |
T |
C |
11: 100,138,402 (GRCm39) |
K249E |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,382,794 (GRCm39) |
S30R |
possibly damaging |
Het |
Naa35 |
T |
C |
13: 59,756,668 (GRCm39) |
|
probably benign |
Het |
Or11g27 |
A |
G |
14: 50,770,970 (GRCm39) |
I34V |
probably benign |
Het |
Or1e22 |
A |
G |
11: 73,376,817 (GRCm39) |
Y278H |
probably damaging |
Het |
Or8g2b |
A |
G |
9: 39,751,533 (GRCm39) |
M268V |
probably benign |
Het |
Osbpl6 |
A |
G |
2: 76,426,214 (GRCm39) |
|
probably benign |
Het |
Pramel6 |
A |
T |
2: 87,340,736 (GRCm39) |
Q356L |
probably damaging |
Het |
Prima1 |
A |
G |
12: 103,163,575 (GRCm39) |
V132A |
probably benign |
Het |
Psme1 |
A |
G |
14: 55,817,383 (GRCm39) |
|
probably benign |
Het |
Rdh11 |
A |
G |
12: 79,235,828 (GRCm39) |
V40A |
possibly damaging |
Het |
Rin1 |
C |
T |
19: 5,103,198 (GRCm39) |
R485C |
probably damaging |
Het |
Rnf40 |
C |
A |
7: 127,190,601 (GRCm39) |
S255* |
probably null |
Het |
Spata24 |
C |
A |
18: 35,789,805 (GRCm39) |
R194L |
probably benign |
Het |
Spata31h1 |
C |
T |
10: 82,119,654 (GRCm39) |
S482N |
probably damaging |
Het |
Tas1r1 |
A |
T |
4: 152,112,735 (GRCm39) |
S773T |
probably damaging |
Het |
Trdv5 |
G |
T |
14: 54,386,429 (GRCm39) |
|
probably benign |
Het |
Trpc3 |
A |
C |
3: 36,694,850 (GRCm39) |
D701E |
probably benign |
Het |
Vim |
A |
G |
2: 13,585,491 (GRCm39) |
R424G |
probably damaging |
Het |
Vmn1r216 |
A |
C |
13: 23,283,649 (GRCm39) |
T111P |
probably damaging |
Het |
Zbtb26 |
A |
C |
2: 37,326,261 (GRCm39) |
N247K |
probably benign |
Het |
Zfp629 |
T |
G |
7: 127,209,203 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ccdc125 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01888:Ccdc125
|
APN |
13 |
100,823,610 (GRCm39) |
splice site |
probably benign |
|
R0002:Ccdc125
|
UTSW |
13 |
100,830,114 (GRCm39) |
nonsense |
probably null |
|
R0014:Ccdc125
|
UTSW |
13 |
100,820,846 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0717:Ccdc125
|
UTSW |
13 |
100,826,866 (GRCm39) |
missense |
probably damaging |
0.99 |
R1661:Ccdc125
|
UTSW |
13 |
100,830,081 (GRCm39) |
missense |
probably benign |
0.37 |
R1665:Ccdc125
|
UTSW |
13 |
100,830,081 (GRCm39) |
missense |
probably benign |
0.37 |
R3118:Ccdc125
|
UTSW |
13 |
100,826,827 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3751:Ccdc125
|
UTSW |
13 |
100,814,459 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4415:Ccdc125
|
UTSW |
13 |
100,832,817 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4838:Ccdc125
|
UTSW |
13 |
100,814,453 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5734:Ccdc125
|
UTSW |
13 |
100,823,622 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5812:Ccdc125
|
UTSW |
13 |
100,820,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R6031:Ccdc125
|
UTSW |
13 |
100,820,877 (GRCm39) |
splice site |
probably null |
|
R6031:Ccdc125
|
UTSW |
13 |
100,820,877 (GRCm39) |
splice site |
probably null |
|
R6419:Ccdc125
|
UTSW |
13 |
100,826,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R6456:Ccdc125
|
UTSW |
13 |
100,832,817 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6733:Ccdc125
|
UTSW |
13 |
100,830,995 (GRCm39) |
missense |
probably benign |
0.04 |
R7183:Ccdc125
|
UTSW |
13 |
100,826,866 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7354:Ccdc125
|
UTSW |
13 |
100,814,382 (GRCm39) |
splice site |
probably null |
|
R7644:Ccdc125
|
UTSW |
13 |
100,814,884 (GRCm39) |
splice site |
probably null |
|
R7910:Ccdc125
|
UTSW |
13 |
100,819,327 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7948:Ccdc125
|
UTSW |
13 |
100,832,910 (GRCm39) |
missense |
probably benign |
0.00 |
R7973:Ccdc125
|
UTSW |
13 |
100,806,331 (GRCm39) |
start gained |
probably benign |
|
R8669:Ccdc125
|
UTSW |
13 |
100,832,683 (GRCm39) |
missense |
probably damaging |
0.97 |
R8695:Ccdc125
|
UTSW |
13 |
100,814,552 (GRCm39) |
missense |
probably benign |
|
R8736:Ccdc125
|
UTSW |
13 |
100,815,833 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9297:Ccdc125
|
UTSW |
13 |
100,832,920 (GRCm39) |
missense |
probably damaging |
0.97 |
R9318:Ccdc125
|
UTSW |
13 |
100,832,920 (GRCm39) |
missense |
probably damaging |
0.97 |
R9424:Ccdc125
|
UTSW |
13 |
100,820,876 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9513:Ccdc125
|
UTSW |
13 |
100,826,875 (GRCm39) |
missense |
probably benign |
0.15 |
X0027:Ccdc125
|
UTSW |
13 |
100,818,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-12-18 |