Incidental Mutation 'IGL01888:Ccdc125'
| ID |
179196 |
| 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 # |
IGL01888
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
100806225-100833748 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 100823610 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
T |
C |
11: 105,859,770 (GRCm39) |
V101A |
probably benign |
Het |
| Ano5 |
A |
T |
7: 51,216,048 (GRCm39) |
I342F |
probably benign |
Het |
| Arhgef10 |
C |
A |
8: 15,012,577 (GRCm39) |
Y300* |
probably null |
Het |
| Caps2 |
A |
G |
10: 112,018,965 (GRCm39) |
D210G |
probably damaging |
Het |
| Colgalt1 |
T |
A |
8: 72,070,318 (GRCm39) |
M200K |
probably damaging |
Het |
| Dzank1 |
G |
T |
2: 144,318,074 (GRCm39) |
|
probably null |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Ist1 |
T |
C |
8: 110,410,400 (GRCm39) |
|
probably benign |
Het |
| Or13d1 |
A |
G |
4: 52,970,974 (GRCm39) |
M118V |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,710,993 (GRCm39) |
Y88N |
probably damaging |
Het |
| Pikfyve |
G |
A |
1: 65,262,799 (GRCm39) |
D497N |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,804,789 (GRCm39) |
V3171A |
possibly damaging |
Het |
| Slc22a18 |
T |
A |
7: 143,033,053 (GRCm39) |
V47D |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Swap70 |
A |
T |
7: 109,879,841 (GRCm39) |
H541L |
probably damaging |
Het |
| Tmx3 |
G |
A |
18: 90,546,045 (GRCm39) |
D209N |
probably benign |
Het |
| Tubgcp4 |
A |
G |
2: 121,015,228 (GRCm39) |
H312R |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r97 |
A |
T |
17: 19,149,286 (GRCm39) |
K225* |
probably null |
Het |
|
| Other mutations in Ccdc125 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02867:Ccdc125
|
APN |
13 |
100,820,790 (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 |
2014-05-07 |
Incidental Mutation