Incidental Mutation 'R4582:Ccdc138'
ID |
343740 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc138
|
Ensembl Gene |
ENSMUSG00000038010 |
Gene Name |
coiled-coil domain containing 138 |
Synonyms |
6230424H07Rik |
MMRRC Submission |
041803-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.133)
|
Stock # |
R4582 (G1)
|
Quality Score |
90 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
58333770-58412066 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 58343465 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043040
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036576]
|
AlphaFold |
Q0VF22 |
Predicted Effect |
probably null
Transcript: ENSMUST00000036576
|
SMART Domains |
Protein: ENSMUSP00000043040 Gene: ENSMUSG00000038010
Domain | Start | End | E-Value | Type |
coiled coil region
|
259 |
339 |
N/A |
INTRINSIC |
low complexity region
|
355 |
365 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abra |
A |
T |
15: 41,732,681 (GRCm39) |
D128E |
probably benign |
Het |
Akap11 |
A |
T |
14: 78,749,369 (GRCm39) |
V1006E |
possibly damaging |
Het |
Ankrd7 |
T |
A |
6: 18,868,020 (GRCm39) |
N95K |
probably damaging |
Het |
Brd9 |
T |
C |
13: 74,095,852 (GRCm39) |
F366L |
probably benign |
Het |
Brinp2 |
A |
G |
1: 158,095,508 (GRCm39) |
F118L |
probably damaging |
Het |
Celsr3 |
T |
C |
9: 108,722,922 (GRCm39) |
F189L |
probably damaging |
Het |
Cfap45 |
A |
G |
1: 172,357,479 (GRCm39) |
T36A |
probably benign |
Het |
Clec4a1 |
G |
T |
6: 122,909,150 (GRCm39) |
V173L |
possibly damaging |
Het |
Col6a5 |
G |
A |
9: 105,739,963 (GRCm39) |
T2552I |
probably benign |
Het |
Dcaf15 |
A |
G |
8: 84,824,598 (GRCm39) |
V533A |
probably damaging |
Het |
Dhrs9 |
A |
T |
2: 69,227,997 (GRCm39) |
I204F |
probably damaging |
Het |
Dock7 |
A |
G |
4: 98,892,153 (GRCm39) |
V811A |
possibly damaging |
Het |
Eef1akmt1 |
T |
C |
14: 57,787,905 (GRCm39) |
D151G |
probably damaging |
Het |
Eif4g3 |
G |
A |
4: 137,898,556 (GRCm39) |
R1109H |
probably damaging |
Het |
Gtpbp10 |
T |
C |
5: 5,592,395 (GRCm39) |
T191A |
possibly damaging |
Het |
Hectd4 |
A |
G |
5: 121,424,482 (GRCm39) |
N714S |
possibly damaging |
Het |
Lima1 |
T |
C |
15: 99,678,873 (GRCm39) |
T523A |
possibly damaging |
Het |
Lipe |
A |
G |
7: 25,097,127 (GRCm39) |
L272P |
probably benign |
Het |
Llgl2 |
A |
G |
11: 115,741,532 (GRCm39) |
E554G |
possibly damaging |
Het |
Lrrc66 |
T |
C |
5: 73,765,580 (GRCm39) |
S488G |
possibly damaging |
Het |
Man2a1 |
C |
T |
17: 65,059,494 (GRCm39) |
A1127V |
probably benign |
Het |
Naglu |
A |
T |
11: 100,962,755 (GRCm39) |
I187F |
probably damaging |
Het |
Nt5c1b |
T |
A |
12: 10,440,054 (GRCm39) |
M548K |
probably damaging |
Het |
Or10ak14 |
A |
T |
4: 118,611,090 (GRCm39) |
I217N |
probably damaging |
Het |
Or6c38 |
A |
T |
10: 128,929,027 (GRCm39) |
V272E |
possibly damaging |
Het |
Pcdha3 |
T |
C |
18: 37,080,485 (GRCm39) |
V409A |
probably benign |
Het |
Pde6b |
A |
T |
5: 108,573,097 (GRCm39) |
|
probably null |
Het |
Pkd2 |
A |
T |
5: 104,650,210 (GRCm39) |
K857* |
probably null |
Het |
Rfx4 |
T |
A |
10: 84,680,164 (GRCm39) |
S114T |
possibly damaging |
Het |
Sacs |
G |
A |
14: 61,429,147 (GRCm39) |
G402D |
probably damaging |
Het |
Slc22a5 |
C |
T |
11: 53,782,035 (GRCm39) |
E111K |
probably damaging |
Het |
Sptbn1 |
G |
A |
11: 30,169,597 (GRCm39) |
R44C |
probably damaging |
Het |
Taf1 |
T |
C |
X: 100,637,601 (GRCm39) |
V1696A |
possibly damaging |
Het |
Tm9sf3 |
C |
A |
19: 41,244,605 (GRCm39) |
G91C |
probably damaging |
Het |
Tmie |
T |
G |
9: 110,702,865 (GRCm39) |
E32A |
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Tsga13 |
A |
T |
6: 30,879,298 (GRCm39) |
N138K |
probably benign |
Het |
Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
Ugt1a10 |
A |
T |
1: 87,983,463 (GRCm39) |
D87V |
possibly damaging |
Het |
Vdac3-ps1 |
A |
T |
13: 18,206,177 (GRCm39) |
|
noncoding transcript |
Het |
Vmn1r29 |
A |
C |
6: 58,285,017 (GRCm39) |
I246L |
probably damaging |
Het |
Zbtb16 |
A |
G |
9: 48,743,382 (GRCm39) |
V310A |
probably benign |
Het |
|
Other mutations in Ccdc138 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00763:Ccdc138
|
APN |
10 |
58,411,537 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00957:Ccdc138
|
APN |
10 |
58,364,838 (GRCm39) |
splice site |
probably benign |
|
IGL01012:Ccdc138
|
APN |
10 |
58,376,737 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01725:Ccdc138
|
APN |
10 |
58,364,745 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL01996:Ccdc138
|
APN |
10 |
58,397,852 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02083:Ccdc138
|
APN |
10 |
58,380,736 (GRCm39) |
splice site |
probably benign |
|
IGL02652:Ccdc138
|
APN |
10 |
58,348,901 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02820:Ccdc138
|
APN |
10 |
58,364,721 (GRCm39) |
splice site |
probably benign |
|
IGL02934:Ccdc138
|
APN |
10 |
58,409,402 (GRCm39) |
splice site |
probably benign |
|
IGL03231:Ccdc138
|
APN |
10 |
58,409,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R0128:Ccdc138
|
UTSW |
10 |
58,364,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R0271:Ccdc138
|
UTSW |
10 |
58,411,645 (GRCm39) |
missense |
probably damaging |
0.99 |
R0480:Ccdc138
|
UTSW |
10 |
58,397,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R0560:Ccdc138
|
UTSW |
10 |
58,411,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R0645:Ccdc138
|
UTSW |
10 |
58,411,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R1405:Ccdc138
|
UTSW |
10 |
58,380,939 (GRCm39) |
splice site |
probably benign |
|
R2032:Ccdc138
|
UTSW |
10 |
58,348,984 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2097:Ccdc138
|
UTSW |
10 |
58,397,759 (GRCm39) |
nonsense |
probably null |
|
R2350:Ccdc138
|
UTSW |
10 |
58,397,715 (GRCm39) |
splice site |
probably benign |
|
R2571:Ccdc138
|
UTSW |
10 |
58,349,044 (GRCm39) |
missense |
probably benign |
0.25 |
R3787:Ccdc138
|
UTSW |
10 |
58,374,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R3805:Ccdc138
|
UTSW |
10 |
58,397,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4630:Ccdc138
|
UTSW |
10 |
58,409,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R4801:Ccdc138
|
UTSW |
10 |
58,409,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R4802:Ccdc138
|
UTSW |
10 |
58,409,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R4883:Ccdc138
|
UTSW |
10 |
58,397,818 (GRCm39) |
missense |
probably benign |
0.03 |
R4908:Ccdc138
|
UTSW |
10 |
58,380,817 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5032:Ccdc138
|
UTSW |
10 |
58,409,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R5155:Ccdc138
|
UTSW |
10 |
58,343,394 (GRCm39) |
missense |
probably benign |
0.00 |
R5287:Ccdc138
|
UTSW |
10 |
58,411,527 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5683:Ccdc138
|
UTSW |
10 |
58,376,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R5963:Ccdc138
|
UTSW |
10 |
58,411,579 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6530:Ccdc138
|
UTSW |
10 |
58,380,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R7148:Ccdc138
|
UTSW |
10 |
58,374,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R7217:Ccdc138
|
UTSW |
10 |
58,345,422 (GRCm39) |
missense |
probably benign |
0.33 |
R9031:Ccdc138
|
UTSW |
10 |
58,380,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R9080:Ccdc138
|
UTSW |
10 |
58,397,884 (GRCm39) |
missense |
probably damaging |
0.99 |
R9104:Ccdc138
|
UTSW |
10 |
58,348,982 (GRCm39) |
missense |
probably benign |
0.05 |
R9134:Ccdc138
|
UTSW |
10 |
58,374,102 (GRCm39) |
missense |
probably damaging |
0.99 |
R9300:Ccdc138
|
UTSW |
10 |
58,343,448 (GRCm39) |
missense |
probably benign |
0.00 |
R9409:Ccdc138
|
UTSW |
10 |
58,374,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTTTTAGGAGGCCAGAATGAGAC -3'
(R):5'- AACTATTTGTGACCTGTATCTACTGGC -3'
Sequencing Primer
(F):5'- GGCCAGAATGAGACCATTAGTATTTG -3'
(R):5'- TGTATCTACTGGCAGGACAGCATAC -3'
|
Posted On |
2015-09-24 |