Incidental Mutation 'R0560:Ccdc138'
| ID |
45837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc138
|
| Ensembl Gene |
ENSMUSG00000038010 |
| Gene Name |
coiled-coil domain containing 138 |
| Synonyms |
6230424H07Rik |
| MMRRC Submission |
038752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R0560 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
58333770-58412066 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58411539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 636
(T636A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036576]
|
| AlphaFold |
Q0VF22 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036576
AA Change: T636A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043040
Gene: ENSMUSG00000038010
AA Change: T636A
| 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 |
0.2626 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (26/26) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
T |
C |
12: 8,055,101 (GRCm39) |
Y1334H |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,926,706 (GRCm39) |
T159A |
possibly damaging |
Het |
| Asb18 |
A |
C |
1: 89,942,250 (GRCm39) |
V17G |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,413,460 (GRCm39) |
K284E |
probably benign |
Het |
| Bspry |
A |
G |
4: 62,404,686 (GRCm39) |
R161G |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,433,491 (GRCm39) |
W1140R |
probably damaging |
Het |
| Cyp2t4 |
A |
G |
7: 26,857,936 (GRCm39) |
T479A |
probably damaging |
Het |
| Dele1 |
T |
A |
18: 38,387,551 (GRCm39) |
L230Q |
probably damaging |
Het |
| Dtx3l |
A |
G |
16: 35,753,305 (GRCm39) |
S434P |
probably damaging |
Het |
| Duox2 |
A |
G |
2: 122,122,035 (GRCm39) |
V611A |
probably benign |
Het |
| Epb41l3 |
T |
G |
17: 69,581,892 (GRCm39) |
|
probably null |
Het |
| Fam161b |
C |
T |
12: 84,404,492 (GRCm39) |
D63N |
probably damaging |
Het |
| Gm5422 |
G |
A |
10: 31,125,240 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr158 |
A |
T |
2: 21,830,085 (GRCm39) |
D710V |
probably damaging |
Het |
| Krtcap2 |
T |
C |
3: 89,156,449 (GRCm39) |
|
probably null |
Het |
| Mtrf1 |
T |
A |
14: 79,644,290 (GRCm39) |
D199E |
probably damaging |
Het |
| Myorg |
G |
A |
4: 41,498,167 (GRCm39) |
R488W |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Ncf2 |
T |
A |
1: 152,697,273 (GRCm39) |
Y47N |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,726 (GRCm39) |
|
probably benign |
Het |
| Siglec1 |
G |
T |
2: 130,912,266 (GRCm39) |
T1692N |
probably benign |
Het |
| Slc10a2 |
T |
C |
8: 5,139,092 (GRCm39) |
N284S |
probably benign |
Het |
| Slfn3 |
T |
C |
11: 83,103,978 (GRCm39) |
F283S |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,154 (GRCm39) |
F2297S |
possibly damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,058,922 (GRCm39) |
|
probably null |
Het |
| Vps13d |
T |
C |
4: 144,780,760 (GRCm39) |
E3957G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGCATTCATTGTAGATCCCTCAG -3'
(R):5'- ACAGCCATACCTTCTACGGGTCTC -3'
Sequencing Primer
(F):5'- GATCCCTCAGGTAACAGTTAGGTTC -3'
(R):5'- acatacatatcacacacacacac -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation