Incidental Mutation 'IGL01725:Ccdc138'
| ID |
105242 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc138
|
| Ensembl Gene |
ENSMUSG00000038010 |
| Gene Name |
coiled-coil domain containing 138 |
| Synonyms |
6230424H07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
IGL01725
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
58333770-58412066 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58364745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 334
(T334A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036576]
|
| AlphaFold |
Q0VF22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036576
AA Change: T334A
PolyPhen 2
Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000043040
Gene: ENSMUSG00000038010
AA Change: T334A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,853,767 (GRCm39) |
I297F |
probably damaging |
Het |
| Abcc4 |
A |
T |
14: 118,738,241 (GRCm39) |
L1170I |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,781,206 (GRCm39) |
D2086G |
probably benign |
Het |
| Arhgap11a |
A |
T |
2: 113,667,897 (GRCm39) |
V368D |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 77,618,348 (GRCm39) |
R205G |
possibly damaging |
Het |
| Galnt4 |
A |
G |
10: 98,945,819 (GRCm39) |
M515V |
probably damaging |
Het |
| Grhl1 |
T |
C |
12: 24,659,747 (GRCm39) |
|
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,065,245 (GRCm39) |
T145A |
probably benign |
Het |
| Kntc1 |
G |
A |
5: 123,902,253 (GRCm39) |
V299I |
probably benign |
Het |
| Lin28a |
G |
A |
4: 133,735,241 (GRCm39) |
R52* |
probably null |
Het |
| Mast4 |
A |
T |
13: 102,887,020 (GRCm39) |
|
probably null |
Het |
| Nme4 |
G |
A |
17: 26,311,040 (GRCm39) |
A175V |
probably benign |
Het |
| Or1e1c |
A |
T |
11: 73,265,982 (GRCm39) |
M136L |
probably benign |
Het |
| Or51ah3 |
T |
A |
7: 103,210,282 (GRCm39) |
Y199* |
probably null |
Het |
| Pi16 |
T |
A |
17: 29,545,294 (GRCm39) |
S186T |
probably damaging |
Het |
| Pigc |
T |
A |
1: 161,798,914 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 72,005,218 (GRCm39) |
I222L |
probably benign |
Het |
| Scap |
T |
A |
9: 110,210,622 (GRCm39) |
|
probably benign |
Het |
| Sec24a |
A |
C |
11: 51,614,405 (GRCm39) |
|
probably null |
Het |
| Sh3tc1 |
T |
C |
5: 35,857,660 (GRCm39) |
E1176G |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,104,645 (GRCm39) |
D255E |
probably benign |
Het |
| Slc16a9 |
T |
C |
10: 70,119,815 (GRCm39) |
M486T |
probably benign |
Het |
| Slc28a3 |
A |
G |
13: 58,726,324 (GRCm39) |
F155S |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,017,508 (GRCm39) |
V435A |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,693,155 (GRCm39) |
R324G |
probably damaging |
Het |
| Tas2r120 |
C |
T |
6: 132,634,052 (GRCm39) |
R45* |
probably null |
Het |
| Tfcp2l1 |
T |
C |
1: 118,596,366 (GRCm39) |
V367A |
possibly damaging |
Het |
| Vmn2r116 |
A |
T |
17: 23,605,619 (GRCm39) |
D177V |
probably damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,208,594 (GRCm39) |
S628P |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation