Incidental Mutation 'IGL02133:Ccdc198'
ID |
281062 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc198
|
Ensembl Gene |
ENSMUSG00000021850 |
Gene Name |
coiled-coil domain containing 198 |
Synonyms |
1700011H14Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
IGL02133
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
49463815-49482902 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 49470424 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 165
(Q165L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153946
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022398]
[ENSMUST00000130853]
[ENSMUST00000148109]
[ENSMUST00000227113]
[ENSMUST00000228936]
|
AlphaFold |
Q9CPZ1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022398
AA Change: Q174L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000022398 Gene: ENSMUSG00000021850 AA Change: Q174L
Domain | Start | End | E-Value | Type |
Pfam:DUF4619
|
1 |
294 |
1e-153 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130853
AA Change: Q165L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000117775 Gene: ENSMUSG00000021850 AA Change: Q165L
Domain | Start | End | E-Value | Type |
Pfam:DUF4619
|
1 |
217 |
4.8e-93 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148109
|
SMART Domains |
Protein: ENSMUSP00000114834 Gene: ENSMUSG00000021850
Domain | Start | End | E-Value | Type |
Pfam:DUF4619
|
1 |
65 |
3.4e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227113
AA Change: Q165L
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228936
AA Change: Q165L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9530068E07Rik |
G |
T |
11: 52,294,337 (GRCm39) |
A193S |
probably damaging |
Het |
Adam4 |
A |
G |
12: 81,466,803 (GRCm39) |
V606A |
probably benign |
Het |
Atp2c2 |
A |
G |
8: 120,481,074 (GRCm39) |
I821V |
probably benign |
Het |
Bmi1 |
A |
T |
2: 18,688,488 (GRCm39) |
R160W |
probably damaging |
Het |
Ccdc88c |
G |
A |
12: 100,906,349 (GRCm39) |
R1062C |
probably damaging |
Het |
Cntnap3 |
A |
T |
13: 64,899,487 (GRCm39) |
|
probably benign |
Het |
Col20a1 |
C |
T |
2: 180,648,937 (GRCm39) |
T940I |
probably damaging |
Het |
Csmd3 |
A |
C |
15: 47,721,338 (GRCm39) |
M1535R |
possibly damaging |
Het |
Dhx38 |
C |
A |
8: 110,284,873 (GRCm39) |
E487* |
probably null |
Het |
Fam186b |
A |
G |
15: 99,171,584 (GRCm39) |
S888P |
probably damaging |
Het |
Fancm |
G |
A |
12: 65,153,249 (GRCm39) |
G1235D |
probably benign |
Het |
Grin3a |
C |
T |
4: 49,792,946 (GRCm39) |
W262* |
probably null |
Het |
Gtdc1 |
A |
T |
2: 44,465,455 (GRCm39) |
M305K |
probably damaging |
Het |
H2-M9 |
T |
C |
17: 36,952,629 (GRCm39) |
E139G |
possibly damaging |
Het |
Haus1 |
A |
T |
18: 77,854,611 (GRCm39) |
L53Q |
probably damaging |
Het |
Hgfac |
A |
G |
5: 35,203,931 (GRCm39) |
Y483C |
probably damaging |
Het |
Hipk2 |
C |
T |
6: 38,796,069 (GRCm39) |
V67I |
probably benign |
Het |
Kbtbd8 |
T |
C |
6: 95,098,713 (GRCm39) |
|
probably benign |
Het |
Kndc1 |
A |
G |
7: 139,500,683 (GRCm39) |
T683A |
probably benign |
Het |
Ldhb |
A |
T |
6: 142,438,226 (GRCm39) |
M277K |
probably benign |
Het |
Mgam |
T |
C |
6: 40,620,010 (GRCm39) |
L33P |
probably damaging |
Het |
Ndst1 |
A |
G |
18: 60,832,618 (GRCm39) |
F571L |
probably benign |
Het |
Neb |
G |
T |
2: 52,102,816 (GRCm39) |
|
probably null |
Het |
Nrxn1 |
A |
G |
17: 90,950,671 (GRCm39) |
S503P |
probably damaging |
Het |
Paqr3 |
A |
G |
5: 97,243,790 (GRCm39) |
V308A |
probably benign |
Het |
Scnn1g |
T |
C |
7: 121,342,922 (GRCm39) |
F292L |
probably damaging |
Het |
Stk3 |
A |
G |
15: 35,099,662 (GRCm39) |
F88S |
probably damaging |
Het |
Tcaf2 |
T |
A |
6: 42,604,330 (GRCm39) |
E683V |
probably benign |
Het |
Tprkb |
T |
C |
6: 85,904,893 (GRCm39) |
V123A |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,175,540 (GRCm39) |
Y1213H |
probably damaging |
Het |
Vwa5b1 |
A |
G |
4: 138,313,868 (GRCm39) |
|
probably null |
Het |
Wls |
A |
G |
3: 159,603,007 (GRCm39) |
Y140C |
probably damaging |
Het |
Zan |
A |
G |
5: 137,409,760 (GRCm39) |
S28P |
possibly damaging |
Het |
|
Other mutations in Ccdc198 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01433:Ccdc198
|
APN |
14 |
49,473,341 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03325:Ccdc198
|
APN |
14 |
49,481,277 (GRCm39) |
splice site |
probably benign |
|
R1751:Ccdc198
|
UTSW |
14 |
49,473,341 (GRCm39) |
missense |
probably benign |
0.09 |
R1767:Ccdc198
|
UTSW |
14 |
49,473,341 (GRCm39) |
missense |
probably benign |
0.09 |
R1846:Ccdc198
|
UTSW |
14 |
49,473,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R1908:Ccdc198
|
UTSW |
14 |
49,464,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R4563:Ccdc198
|
UTSW |
14 |
49,471,955 (GRCm39) |
missense |
probably benign |
0.27 |
R4883:Ccdc198
|
UTSW |
14 |
49,482,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R4915:Ccdc198
|
UTSW |
14 |
49,470,351 (GRCm39) |
missense |
probably benign |
0.01 |
R5381:Ccdc198
|
UTSW |
14 |
49,470,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R5986:Ccdc198
|
UTSW |
14 |
49,470,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R6379:Ccdc198
|
UTSW |
14 |
49,481,191 (GRCm39) |
missense |
probably benign |
0.02 |
R6829:Ccdc198
|
UTSW |
14 |
49,464,025 (GRCm39) |
makesense |
probably null |
|
R6841:Ccdc198
|
UTSW |
14 |
49,481,270 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7337:Ccdc198
|
UTSW |
14 |
49,471,948 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8327:Ccdc198
|
UTSW |
14 |
49,470,356 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9154:Ccdc198
|
UTSW |
14 |
49,473,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |