Incidental Mutation 'R2350:Ccdc138'
ID |
246073 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc138
|
Ensembl Gene |
ENSMUSG00000038010 |
Gene Name |
coiled-coil domain containing 138 |
Synonyms |
6230424H07Rik |
MMRRC Submission |
040332-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.133)
|
Stock # |
R2350 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
58333770-58412066 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 58397715 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 benign
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
C |
6: 121,655,047 (GRCm39) |
|
probably benign |
Het |
Adam12 |
T |
C |
7: 133,521,253 (GRCm39) |
T312A |
probably damaging |
Het |
Adamts20 |
C |
T |
15: 94,181,797 (GRCm39) |
C1632Y |
probably damaging |
Het |
Ago2 |
T |
C |
15: 72,991,310 (GRCm39) |
M543V |
probably benign |
Het |
Alpk3 |
T |
C |
7: 80,744,718 (GRCm39) |
L1271P |
probably damaging |
Het |
Arpin |
T |
A |
7: 79,581,553 (GRCm39) |
K56* |
probably null |
Het |
Ccdc63 |
A |
T |
5: 122,260,948 (GRCm39) |
M192K |
probably benign |
Het |
Cldn12 |
A |
T |
5: 5,557,845 (GRCm39) |
V194D |
possibly damaging |
Het |
Cntnap5b |
T |
C |
1: 100,306,851 (GRCm39) |
L485P |
probably damaging |
Het |
Cpne7 |
A |
G |
8: 123,851,208 (GRCm39) |
D165G |
probably damaging |
Het |
Cyp2j6 |
A |
T |
4: 96,417,645 (GRCm39) |
M326K |
probably damaging |
Het |
D630003M21Rik |
T |
A |
2: 158,042,931 (GRCm39) |
T870S |
probably damaging |
Het |
Dennd2c |
A |
G |
3: 103,039,317 (GRCm39) |
D155G |
probably benign |
Het |
Dnah3 |
A |
T |
7: 119,645,011 (GRCm39) |
|
probably null |
Het |
Dqx1 |
T |
A |
6: 83,036,068 (GRCm39) |
C133* |
probably null |
Het |
Fam234b |
T |
A |
6: 135,208,722 (GRCm39) |
V545E |
probably damaging |
Het |
Flcn |
T |
C |
11: 59,683,485 (GRCm39) |
H564R |
probably damaging |
Het |
Gsdmc4 |
T |
A |
15: 63,765,014 (GRCm39) |
H348L |
probably benign |
Het |
Gucy2c |
G |
T |
6: 136,740,072 (GRCm39) |
P252T |
probably damaging |
Het |
Insl6 |
T |
A |
19: 29,302,645 (GRCm39) |
E24V |
possibly damaging |
Het |
Irx1 |
T |
A |
13: 72,108,167 (GRCm39) |
T172S |
probably damaging |
Het |
Mocos |
C |
T |
18: 24,799,713 (GRCm39) |
|
probably benign |
Het |
Myom2 |
T |
C |
8: 15,158,835 (GRCm39) |
V837A |
probably benign |
Het |
Nfatc2ip |
T |
C |
7: 125,995,170 (GRCm39) |
N126S |
probably benign |
Het |
Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
Npepl1 |
T |
C |
2: 173,953,566 (GRCm39) |
S166P |
probably benign |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Or7d11 |
G |
T |
9: 19,966,384 (GRCm39) |
A125D |
probably damaging |
Het |
Otop2 |
T |
G |
11: 115,217,676 (GRCm39) |
C171G |
probably damaging |
Het |
Parpbp |
C |
A |
10: 87,968,950 (GRCm39) |
|
probably benign |
Het |
Pcdhb20 |
T |
A |
18: 37,637,563 (GRCm39) |
S30T |
probably benign |
Het |
Phkg1 |
A |
T |
5: 129,893,373 (GRCm39) |
V359E |
probably damaging |
Het |
Ppp2cb |
A |
G |
8: 34,101,855 (GRCm39) |
D131G |
probably null |
Het |
Scn9a |
A |
G |
2: 66,335,312 (GRCm39) |
Y1226H |
probably damaging |
Het |
Unc5b |
A |
G |
10: 60,613,979 (GRCm39) |
F290S |
probably benign |
Het |
Vmn1r71 |
A |
G |
7: 10,481,846 (GRCm39) |
F215L |
probably benign |
Het |
Vmn2r101 |
T |
C |
17: 19,810,045 (GRCm39) |
V277A |
probably benign |
Het |
Vmn2r6 |
T |
C |
3: 64,463,773 (GRCm39) |
S354G |
probably benign |
Het |
Zfp292 |
A |
T |
4: 34,811,281 (GRCm39) |
S588T |
probably damaging |
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 |
|
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 |
R4582:Ccdc138
|
UTSW |
10 |
58,343,465 (GRCm39) |
critical splice donor site |
probably null |
|
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'- GCCGTTGTAATTGGACTGCC -3'
(R):5'- ACGCAAGCATCATTTCTTTACAGAC -3'
Sequencing Primer
(F):5'- CGTTGTAATTGGACTGCCTTTTC -3'
(R):5'- GACTCTACTGTCATCTGAAGCAGG -3'
|
Posted On |
2014-10-30 |