Incidental Mutation 'R5812:Ccdc125'
| ID |
447572 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5812 (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 100820812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 152
(W152R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057325]
[ENSMUST00000170347]
|
| AlphaFold |
Q5U465 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057325
AA Change: W178R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000058484
Gene: ENSMUSG00000048924
AA Change: W178R
| 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 damaging
Transcript: ENSMUST00000170347
AA Change: W152R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130107
Gene: ENSMUSG00000048924
AA Change: W152R
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
A |
G |
3: 137,882,299 (GRCm39) |
S9P |
probably damaging |
Het |
| Aadacl2fm2 |
T |
A |
3: 59,654,693 (GRCm39) |
Y176N |
probably damaging |
Het |
| Acsl5 |
G |
A |
19: 55,283,268 (GRCm39) |
V615I |
probably benign |
Het |
| Ankk1 |
T |
C |
9: 49,338,153 (GRCm39) |
K47E |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 123,620,544 (GRCm39) |
|
probably null |
Het |
| Bcl9l |
T |
C |
9: 44,417,941 (GRCm39) |
V593A |
probably benign |
Het |
| Cadps |
T |
C |
14: 12,376,685 (GRCm38) |
I1271V |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,984,808 (GRCm39) |
V1606A |
possibly damaging |
Het |
| Csgalnact1 |
T |
C |
8: 68,854,036 (GRCm39) |
N255S |
probably benign |
Het |
| Cxxc5 |
T |
A |
18: 35,992,109 (GRCm39) |
V170E |
probably damaging |
Het |
| Defb6 |
C |
T |
8: 19,278,110 (GRCm39) |
R61C |
possibly damaging |
Het |
| Dnah10 |
T |
A |
5: 124,824,810 (GRCm39) |
N655K |
probably benign |
Het |
| Fry |
G |
A |
5: 150,323,136 (GRCm39) |
A1096T |
probably damaging |
Het |
| Gli1 |
C |
T |
10: 127,173,284 (GRCm39) |
G125S |
probably damaging |
Het |
| Igkv14-126 |
A |
T |
6: 67,873,424 (GRCm39) |
I51F |
possibly damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Jtb |
T |
C |
3: 90,141,284 (GRCm39) |
S87P |
probably benign |
Het |
| Kdm6b |
A |
T |
11: 69,296,755 (GRCm39) |
I504N |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Map2k4 |
A |
G |
11: 65,626,031 (GRCm39) |
I136T |
probably damaging |
Het |
| Marchf4 |
T |
C |
1: 72,468,076 (GRCm39) |
T319A |
probably benign |
Het |
| Nr2e3 |
TCCATCGGAGTGTTCCC |
TC |
9: 59,850,701 (GRCm39) |
|
probably benign |
Het |
| Nt5e |
T |
C |
9: 88,251,108 (GRCm39) |
V459A |
probably damaging |
Het |
| Ogdhl |
A |
G |
14: 32,054,822 (GRCm39) |
K257E |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2g25 |
A |
G |
17: 37,970,630 (GRCm39) |
L198P |
probably damaging |
Het |
| Osmr |
A |
T |
15: 6,866,540 (GRCm39) |
V378D |
probably damaging |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Pdzd7 |
G |
T |
19: 45,025,310 (GRCm39) |
T395K |
probably damaging |
Het |
| Rasgef1c |
A |
G |
11: 49,847,970 (GRCm39) |
D35G |
probably benign |
Het |
| Rbm19 |
T |
C |
5: 120,279,642 (GRCm39) |
F770L |
probably damaging |
Het |
| Rit2 |
C |
A |
18: 31,108,514 (GRCm39) |
C157F |
probably damaging |
Het |
| Slc22a22 |
A |
G |
15: 57,119,869 (GRCm39) |
|
probably null |
Het |
| Slc8b1 |
T |
C |
5: 120,651,403 (GRCm39) |
|
probably null |
Het |
| Speer2 |
C |
A |
16: 69,655,783 (GRCm39) |
R14S |
possibly damaging |
Het |
| Tas2r105 |
C |
A |
6: 131,663,836 (GRCm39) |
L197F |
possibly damaging |
Het |
| Tmprss11b |
T |
A |
5: 86,812,957 (GRCm39) |
H113L |
possibly damaging |
Het |
| Ttbk2 |
G |
A |
2: 120,653,040 (GRCm39) |
P64S |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,601,425 (GRCm39) |
H115Q |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,889,777 (GRCm39) |
|
probably benign |
Het |
| Zbtb39 |
T |
A |
10: 127,577,429 (GRCm39) |
M1K |
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 |
|
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'- CATAGACTCTTCTGAGCAGCC -3'
(R):5'- TAGCATCAGAAGCTTCACAAGAG -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- CAAAGGTCTGGAGTTCAGGTCC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation