Incidental Mutation 'R5683:Ccdc138'
ID |
443191 |
Institutional Source |
Beutler Lab
|
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 # |
R5683 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
58333770-58412066 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 58376641 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 425
(Q425K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043040
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036576]
|
AlphaFold |
Q0VF22 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036576
AA Change: Q425K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043040 Gene: ENSMUSG00000038010 AA Change: Q425K
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: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
A |
C |
11: 72,093,266 (GRCm39) |
M22R |
probably benign |
Het |
Acad11 |
A |
G |
9: 103,961,482 (GRCm39) |
E397G |
probably damaging |
Het |
Actrt3 |
A |
T |
3: 30,652,427 (GRCm39) |
D222E |
probably benign |
Het |
Akap11 |
A |
T |
14: 78,750,018 (GRCm39) |
S790T |
probably damaging |
Het |
Arhgap5 |
T |
A |
12: 52,566,369 (GRCm39) |
D1113E |
probably benign |
Het |
Arl2 |
C |
A |
19: 6,184,794 (GRCm39) |
R153L |
probably benign |
Het |
B3glct |
T |
A |
5: 149,619,902 (GRCm39) |
M19K |
probably benign |
Het |
Ccdc178 |
T |
A |
18: 22,263,179 (GRCm39) |
K143N |
probably benign |
Het |
Cd200r4 |
T |
A |
16: 44,653,311 (GRCm39) |
I73K |
probably benign |
Het |
Chaf1b |
A |
G |
16: 93,684,030 (GRCm39) |
K94E |
possibly damaging |
Het |
Cmtm2a |
T |
C |
8: 105,019,676 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
Fnbp4 |
C |
A |
2: 90,583,206 (GRCm39) |
N277K |
probably damaging |
Het |
Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
Itsn1 |
T |
C |
16: 91,702,268 (GRCm39) |
Y37H |
probably benign |
Het |
Kdm8 |
A |
G |
7: 125,054,345 (GRCm39) |
Y16C |
possibly damaging |
Het |
Kif1b |
A |
T |
4: 149,306,718 (GRCm39) |
Y881N |
probably damaging |
Het |
Lhcgr |
C |
T |
17: 89,079,447 (GRCm39) |
V80I |
probably benign |
Het |
Lrriq1 |
T |
A |
10: 103,009,236 (GRCm39) |
L1082F |
probably damaging |
Het |
Met |
A |
G |
6: 17,571,743 (GRCm39) |
Y1354C |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,536,007 (GRCm39) |
L2859P |
possibly damaging |
Het |
Ndufaf5 |
T |
A |
2: 140,044,843 (GRCm39) |
M279K |
possibly damaging |
Het |
Nlrp4e |
T |
C |
7: 23,052,697 (GRCm39) |
I872T |
probably damaging |
Het |
Npnt |
A |
T |
3: 132,612,601 (GRCm39) |
|
probably null |
Het |
Nsd1 |
G |
A |
13: 55,393,961 (GRCm39) |
V521I |
probably benign |
Het |
Or2n1e |
G |
A |
17: 38,586,437 (GRCm39) |
M258I |
possibly damaging |
Het |
Pak6 |
T |
A |
2: 118,524,393 (GRCm39) |
Y469N |
probably damaging |
Het |
Parp4 |
C |
T |
14: 56,884,886 (GRCm39) |
R1322* |
probably null |
Het |
Pax6 |
T |
C |
2: 105,516,252 (GRCm39) |
Y177H |
probably benign |
Het |
Pcdhb4 |
A |
T |
18: 37,442,042 (GRCm39) |
T451S |
probably benign |
Het |
Pcdhgb5 |
A |
T |
18: 37,864,907 (GRCm39) |
D234V |
probably damaging |
Het |
Pramel11 |
A |
G |
4: 143,622,423 (GRCm39) |
S311P |
probably damaging |
Het |
Ralb |
G |
A |
1: 119,403,686 (GRCm39) |
A147V |
possibly damaging |
Het |
Rgs11 |
A |
G |
17: 26,424,155 (GRCm39) |
K196E |
probably benign |
Het |
Rnft1 |
A |
T |
11: 86,382,616 (GRCm39) |
T280S |
probably benign |
Het |
Slco4c1 |
G |
T |
1: 96,795,559 (GRCm39) |
H166Q |
probably damaging |
Het |
Sycp3 |
T |
C |
10: 88,308,797 (GRCm39) |
S248P |
probably damaging |
Het |
Tab2 |
A |
G |
10: 7,794,876 (GRCm39) |
|
probably null |
Het |
Tgm6 |
T |
C |
2: 129,980,875 (GRCm39) |
M224T |
probably damaging |
Het |
Topbp1 |
A |
T |
9: 103,190,003 (GRCm39) |
E193V |
possibly damaging |
Het |
Trim36 |
T |
C |
18: 46,302,359 (GRCm39) |
Y551C |
probably damaging |
Het |
Ttc17 |
T |
C |
2: 94,192,866 (GRCm39) |
Y628C |
probably damaging |
Het |
Vmn1r180 |
A |
C |
7: 23,652,635 (GRCm39) |
D266A |
possibly damaging |
Het |
Vmn2r104 |
T |
A |
17: 20,260,981 (GRCm39) |
K481* |
probably null |
Het |
Zc3hav1 |
A |
G |
6: 38,284,172 (GRCm39) |
V981A |
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 |
|
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 |
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'- CACGTGGATTGTCTACTCAATGC -3'
(R):5'- ACCCTTAGGACAGTATTGAACAG -3'
Sequencing Primer
(F):5'- TGGATTGTCTACTCAATGCATTATTC -3'
(R):5'- CCTTAGGACAGTATTGAACAGAGAAG -3'
|
Posted On |
2016-11-09 |