Incidental Mutation 'R8736:Ccdc125'
| ID |
663042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc125
|
| Ensembl Gene |
ENSMUSG00000048924 |
| Gene Name |
coiled-coil domain containing 125 |
| Synonyms |
5830436D01Rik |
| MMRRC Submission |
068617-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8736 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
100806225-100833748 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100815833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 100
(S100P)
|
| 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: S100P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000058484
Gene: ENSMUSG00000048924
AA Change: S100P
| 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: S100P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130107
Gene: ENSMUSG00000048924
AA Change: S100P
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.8%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bltp2 |
T |
A |
11: 78,178,875 (GRCm39) |
S2047T |
probably benign |
Het |
| Ccnl1 |
T |
C |
3: 65,865,447 (GRCm39) |
T35A |
unknown |
Het |
| Cul2 |
T |
A |
18: 3,434,019 (GRCm39) |
V672E |
probably damaging |
Het |
| Cyb5a |
C |
A |
18: 84,869,560 (GRCm39) |
|
probably benign |
Het |
| Ddhd1 |
T |
A |
14: 45,836,642 (GRCm39) |
Y831F |
probably benign |
Het |
| Ddr1 |
A |
G |
17: 35,995,104 (GRCm39) |
I698T |
probably damaging |
Het |
| Elovl7 |
A |
T |
13: 108,393,320 (GRCm39) |
I18F |
probably benign |
Het |
| Fcgbp |
G |
T |
7: 27,805,621 (GRCm39) |
V1967L |
probably benign |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gtf2h3 |
A |
G |
5: 124,728,972 (GRCm39) |
N177S |
probably damaging |
Het |
| Krt6b |
A |
G |
15: 101,587,047 (GRCm39) |
Y242H |
probably damaging |
Het |
| Mab21l2 |
C |
A |
3: 86,454,607 (GRCm39) |
R131L |
probably damaging |
Het |
| Maml1 |
T |
C |
11: 50,148,726 (GRCm39) |
T1005A |
possibly damaging |
Het |
| Mapk4 |
T |
C |
18: 74,103,396 (GRCm39) |
T38A |
probably benign |
Het |
| Mapkapk5 |
G |
A |
5: 121,665,241 (GRCm39) |
A338V |
possibly damaging |
Het |
| Morc2a |
C |
A |
11: 3,631,737 (GRCm39) |
T556K |
probably damaging |
Het |
| Muc16 |
G |
A |
9: 18,462,139 (GRCm39) |
Q7459* |
probably null |
Het |
| Muc6 |
T |
C |
7: 141,228,439 (GRCm39) |
T1256A |
possibly damaging |
Het |
| Or1e21 |
T |
A |
11: 73,344,384 (GRCm39) |
Y218F |
probably damaging |
Het |
| Or4b12 |
A |
G |
2: 90,095,922 (GRCm39) |
V284A |
possibly damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,309 (GRCm39) |
C256R |
probably damaging |
Het |
| Or7g20 |
G |
T |
9: 18,946,774 (GRCm39) |
M118I |
probably damaging |
Het |
| Or9i14 |
T |
C |
19: 13,792,358 (GRCm39) |
I199V |
probably benign |
Het |
| Or9s18 |
T |
G |
13: 65,300,538 (GRCm39) |
C167G |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 115,975,464 (GRCm39) |
V701A |
possibly damaging |
Het |
| Plxnb2 |
A |
T |
15: 89,046,261 (GRCm39) |
I918N |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,307,053 (GRCm39) |
S118G |
possibly damaging |
Het |
| Ppp1r18 |
A |
G |
17: 36,184,711 (GRCm39) |
T549A |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,647,512 (GRCm39) |
I559V |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tlx1 |
A |
G |
19: 45,141,975 (GRCm39) |
T200A |
possibly damaging |
Het |
| Usp1 |
A |
G |
4: 98,821,105 (GRCm39) |
I488V |
probably damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,467,221 (GRCm39) |
M93L |
probably damaging |
Het |
| Zfp870 |
A |
T |
17: 33,104,966 (GRCm39) |
V31E |
possibly damaging |
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 |
|
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 |
|
|
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'- TCCCGTATTTTGCTGGGGC -3'
(R):5'- AGGCATGCTTACATCAGAGG -3'
Sequencing Primer
(F):5'- ACAGGGTCTCTCAGCATAGCTTTG -3'
(R):5'- TCTAGAGTGAGTTCTAGGACAGCC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation