Incidental Mutation 'R4563:Ccdc198'
| ID |
343208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc198
|
| Ensembl Gene |
ENSMUSG00000021850 |
| Gene Name |
coiled-coil domain containing 198 |
| Synonyms |
1700011H14Rik |
| MMRRC Submission |
041788-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R4563 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
49463815-49482902 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49471955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 152
(M152L)
|
| 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: M161L
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000022398
Gene: ENSMUSG00000021850
AA Change: M161L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4619
|
1 |
294 |
1e-153 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130853
AA Change: M152L
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000117775
Gene: ENSMUSG00000021850
AA Change: M152L
| 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: M152L
PolyPhen 2
Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228936
AA Change: M152L
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| Meta Mutation Damage Score |
0.0881 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
G |
12: 21,382,089 (GRCm39) |
C591R |
probably damaging |
Het |
| Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
| Calm5 |
C |
A |
13: 3,904,402 (GRCm39) |
S32* |
probably null |
Het |
| Cln3 |
G |
T |
7: 126,171,730 (GRCm39) |
S346R |
probably damaging |
Het |
| G6pd2 |
G |
A |
5: 61,967,686 (GRCm39) |
R487H |
possibly damaging |
Het |
| Glipr2 |
A |
T |
4: 43,977,600 (GRCm39) |
N77Y |
probably damaging |
Het |
| Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,766,264 (GRCm39) |
V37A |
probably benign |
Het |
| Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
| Mcm3 |
G |
T |
1: 20,879,869 (GRCm39) |
R543S |
probably benign |
Het |
| Mgat4a |
T |
C |
1: 37,505,660 (GRCm39) |
D43G |
probably damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,928,457 (GRCm39) |
Y703H |
probably benign |
Het |
| Ncf2 |
T |
C |
1: 152,683,976 (GRCm39) |
|
probably benign |
Het |
| Nek6 |
T |
G |
2: 38,475,305 (GRCm39) |
V282G |
probably damaging |
Het |
| Nhlrc1 |
T |
C |
13: 47,167,666 (GRCm39) |
D197G |
possibly damaging |
Het |
| Nup93 |
G |
T |
8: 95,034,520 (GRCm39) |
V612F |
probably damaging |
Het |
| Or5be3 |
C |
T |
2: 86,864,028 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or9i14 |
A |
G |
19: 13,792,646 (GRCm39) |
F103L |
probably benign |
Het |
| Pafah1b2 |
T |
C |
9: 45,887,404 (GRCm39) |
K36E |
probably damaging |
Het |
| Paqr9 |
A |
G |
9: 95,442,997 (GRCm39) |
E329G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,571,383 (GRCm39) |
Q256R |
probably damaging |
Het |
| Pctp |
A |
T |
11: 89,879,578 (GRCm39) |
D94E |
probably benign |
Het |
| Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
| Pex14 |
A |
T |
4: 149,126,225 (GRCm39) |
V41D |
probably damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Rasal2 |
T |
C |
1: 157,003,561 (GRCm39) |
K366R |
probably damaging |
Het |
| Rprd1a |
A |
C |
18: 24,640,160 (GRCm39) |
|
probably null |
Het |
| Senp8 |
A |
C |
9: 59,657,546 (GRCm39) |
M1R |
probably null |
Het |
| Slc49a4 |
T |
C |
16: 35,518,312 (GRCm39) |
Y467C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
| Strc |
T |
C |
2: 121,196,286 (GRCm39) |
T1581A |
probably benign |
Het |
| Tmem117 |
T |
C |
15: 94,536,035 (GRCm39) |
I23T |
possibly damaging |
Het |
| Ttc13 |
A |
G |
8: 125,402,016 (GRCm39) |
L657P |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,443,622 (GRCm39) |
|
probably benign |
Het |
| Vmn1r125 |
A |
G |
7: 21,006,308 (GRCm39) |
T69A |
probably 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 |
|
IGL02133:Ccdc198
|
APN |
14 |
49,470,424 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAGCAAAGGTCATCTTCC -3'
(R):5'- CAAAGGACTTGTCAGGGACACAC -3'
Sequencing Primer
(F):5'- GGAGCAAAGGTCATCTTCCTGTTTC -3'
(R):5'- TTGTCAGGGACACACACCAGTATAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation