Incidental Mutation 'R6733:Ccdc125'
| ID |
530159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc125
|
| Ensembl Gene |
ENSMUSG00000048924 |
| Gene Name |
coiled-coil domain containing 125 |
| Synonyms |
5830436D01Rik |
| MMRRC Submission |
044851-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6733 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
100806225-100833748 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100830995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 394
(M394K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057325]
[ENSMUST00000170347]
|
| AlphaFold |
Q5U465 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057325
AA Change: M394K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000058484
Gene: ENSMUSG00000048924
AA Change: M394K
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
C |
T |
17: 14,043,615 (GRCm39) |
H358Y |
probably benign |
Het |
| Aoc1l2 |
T |
C |
6: 48,907,464 (GRCm39) |
S155P |
probably damaging |
Het |
| Cfd |
C |
A |
10: 79,727,636 (GRCm39) |
H103Q |
probably damaging |
Het |
| Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
| Dedd2 |
T |
C |
7: 24,903,332 (GRCm39) |
E209G |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,522,197 (GRCm39) |
S3999P |
probably benign |
Het |
| Fer1l5 |
T |
C |
1: 36,447,753 (GRCm39) |
|
probably null |
Het |
| H6pd |
A |
T |
4: 150,069,578 (GRCm39) |
|
probably null |
Het |
| Il25 |
T |
C |
14: 55,170,490 (GRCm39) |
I21T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,614,291 (GRCm39) |
S143N |
probably damaging |
Het |
| Marveld3 |
T |
C |
8: 110,688,681 (GRCm39) |
D20G |
possibly damaging |
Het |
| Msl1 |
A |
G |
11: 98,690,882 (GRCm39) |
E122G |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,919,421 (GRCm39) |
V6861E |
probably damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,605 (GRCm39) |
C180S |
probably damaging |
Het |
| Phc1 |
A |
T |
6: 122,313,845 (GRCm39) |
M29K |
possibly damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,375,126 (GRCm39) |
|
probably null |
Het |
| Prl5a1 |
G |
T |
13: 28,333,919 (GRCm39) |
V141F |
possibly damaging |
Het |
| Psg20 |
A |
T |
7: 18,408,547 (GRCm39) |
V391D |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,606,043 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,630,037 (GRCm39) |
E580G |
possibly damaging |
Het |
| Ror1 |
T |
C |
4: 100,283,252 (GRCm39) |
V439A |
probably benign |
Het |
| Rsl1 |
A |
G |
13: 67,325,206 (GRCm39) |
T81A |
probably benign |
Het |
| Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
| Slc22a8 |
T |
C |
19: 8,586,656 (GRCm39) |
L389P |
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,111,859 (GRCm39) |
Y142C |
probably damaging |
Het |
| Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
| Thop1 |
T |
A |
10: 80,917,246 (GRCm39) |
I583N |
probably damaging |
Het |
| Tom1l1 |
A |
G |
11: 90,575,886 (GRCm39) |
|
probably null |
Het |
| Unk |
A |
G |
11: 115,941,581 (GRCm39) |
D276G |
probably damaging |
Het |
| Zfp942 |
C |
A |
17: 22,147,733 (GRCm39) |
E299* |
probably null |
Het |
| Zkscan6 |
A |
G |
11: 65,719,461 (GRCm39) |
T494A |
probably damaging |
Het |
| Zscan25 |
T |
A |
5: 145,227,723 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTTTGCCTCTGGACTGAC -3'
(R):5'- TGCATGGAAGTGGACACAGTTG -3'
Sequencing Primer
(F):5'- GTGAATTAGCCTTGGCTCACAGAC -3'
(R):5'- TGGACACAGTTGGCAGGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation