Incidental Mutation 'R3118:Ccdc125'
| ID |
263135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc125
|
| Ensembl Gene |
ENSMUSG00000048924 |
| Gene Name |
coiled-coil domain containing 125 |
| Synonyms |
5830436D01Rik |
| MMRRC Submission |
040591-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3118 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
100806225-100833748 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100826827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 228
(V228A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057325]
[ENSMUST00000170347]
|
| AlphaFold |
Q5U465 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057325
AA Change: V228A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000058484
Gene: ENSMUSG00000048924
AA Change: V228A
| 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
AA Change: V202A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000130107
Gene: ENSMUSG00000048924
AA Change: V202A
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
T |
G |
13: 104,450,787 (GRCm39) |
D323E |
possibly damaging |
Het |
| Chrna2 |
A |
G |
14: 66,388,442 (GRCm39) |
I486V |
probably damaging |
Het |
| Cpxm1 |
T |
C |
2: 130,235,493 (GRCm39) |
T500A |
possibly damaging |
Het |
| Crebbp |
G |
A |
16: 3,927,062 (GRCm39) |
R628C |
probably damaging |
Het |
| Cxcl1 |
T |
A |
5: 91,039,454 (GRCm39) |
|
probably null |
Het |
| Dab1 |
G |
A |
4: 104,537,266 (GRCm39) |
|
probably null |
Het |
| Ddx11 |
T |
A |
17: 66,456,272 (GRCm39) |
M751K |
probably damaging |
Het |
| Ece1 |
A |
G |
4: 137,675,855 (GRCm39) |
T410A |
probably benign |
Het |
| Eml5 |
C |
T |
12: 98,831,753 (GRCm39) |
V402I |
probably damaging |
Het |
| Fam241b |
A |
T |
10: 61,944,635 (GRCm39) |
*121R |
probably null |
Het |
| Fras1 |
G |
A |
5: 96,919,571 (GRCm39) |
A3595T |
probably damaging |
Het |
| Gpr149 |
A |
G |
3: 62,502,443 (GRCm39) |
V471A |
probably benign |
Het |
| Lemd3 |
A |
G |
10: 120,783,156 (GRCm39) |
S557P |
probably benign |
Het |
| Mkrn3 |
CGGCATTGGCACTGGCATTGGCACTGGCATTGGCA |
CGGCATTGGCACTGGCATTGGCA |
7: 62,068,962 (GRCm39) |
|
probably benign |
Het |
| Mmp7 |
T |
C |
9: 7,697,693 (GRCm39) |
Y243H |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Pak6 |
T |
C |
2: 118,520,222 (GRCm39) |
V71A |
probably damaging |
Het |
| Pira2 |
T |
A |
7: 3,844,676 (GRCm39) |
R452* |
probably null |
Het |
| Plxna1 |
A |
G |
6: 89,333,958 (GRCm39) |
S224P |
possibly damaging |
Het |
| Prpf39 |
T |
C |
12: 65,104,651 (GRCm39) |
V572A |
possibly damaging |
Het |
| Prss12 |
A |
T |
3: 123,298,976 (GRCm39) |
T583S |
possibly damaging |
Het |
| Rgs10 |
T |
C |
7: 128,004,955 (GRCm39) |
E65G |
probably damaging |
Het |
| Rnf19a |
T |
A |
15: 36,242,045 (GRCm39) |
K665* |
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Tbx15 |
T |
C |
3: 99,259,470 (GRCm39) |
I447T |
probably damaging |
Het |
| Tmem135 |
A |
G |
7: 88,797,005 (GRCm39) |
S364P |
probably benign |
Het |
| Ugt1a9 |
T |
C |
1: 87,998,562 (GRCm39) |
V4A |
probably benign |
Het |
| Zfp595 |
T |
C |
13: 67,468,963 (GRCm39) |
I95M |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAATGTCCTTTCTCCCATGATACC -3'
(R):5'- AACTGTGTCCCTCAGGCATG -3'
Sequencing Primer
(F):5'- CATGATACCTGCTGTTTCATCAG -3'
(R):5'- AAGCTAAGTTGCTGCCCTAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation