Incidental Mutation 'IGL03239:Ccdc190'
ID |
414200 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc190
|
Ensembl Gene |
ENSMUSG00000070532 |
Gene Name |
coiled-coil domain containing 190 |
Synonyms |
1700084C01Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
IGL03239
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
169756217-169762222 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 169761549 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 217
(R217L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135819
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094348]
[ENSMUST00000175731]
|
AlphaFold |
Q3URK1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094348
AA Change: R216L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000091908 Gene: ENSMUSG00000070532 AA Change: R216L
Domain | Start | End | E-Value | Type |
coiled coil region
|
40 |
69 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159701
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175731
AA Change: R217L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000135819 Gene: ENSMUSG00000070532 AA Change: R217L
Domain | Start | End | E-Value | Type |
Pfam:DUF4697
|
8 |
275 |
1.4e-130 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
T |
C |
5: 99,381,835 (GRCm39) |
Y309C |
probably damaging |
Het |
Arvcf |
G |
T |
16: 18,214,932 (GRCm39) |
V44L |
probably damaging |
Het |
Catsperg2 |
T |
G |
7: 29,397,141 (GRCm39) |
S1121R |
probably benign |
Het |
Chd8 |
G |
A |
14: 52,465,005 (GRCm39) |
P619S |
possibly damaging |
Het |
Cyp17a1 |
A |
T |
19: 46,655,796 (GRCm39) |
W498R |
probably damaging |
Het |
Dgka |
A |
G |
10: 128,557,254 (GRCm39) |
|
probably benign |
Het |
Ep300 |
A |
G |
15: 81,525,589 (GRCm39) |
D1471G |
unknown |
Het |
Htr2b |
A |
G |
1: 86,027,414 (GRCm39) |
F364S |
probably damaging |
Het |
Kcnv1 |
A |
G |
15: 44,972,886 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
T |
C |
11: 103,390,233 (GRCm39) |
T1731A |
probably benign |
Het |
Mylip |
A |
G |
13: 45,560,101 (GRCm39) |
E179G |
possibly damaging |
Het |
Olfm3 |
A |
G |
3: 114,916,243 (GRCm39) |
R392G |
probably damaging |
Het |
Pbk |
T |
A |
14: 66,054,667 (GRCm39) |
D266E |
probably benign |
Het |
Pcdhb13 |
C |
A |
18: 37,575,888 (GRCm39) |
L89M |
probably damaging |
Het |
Pgap4 |
T |
C |
4: 49,586,034 (GRCm39) |
Y378C |
probably damaging |
Het |
Prdm5 |
T |
G |
6: 65,863,062 (GRCm39) |
|
probably benign |
Het |
Rab3gap2 |
A |
G |
1: 184,982,091 (GRCm39) |
D381G |
probably damaging |
Het |
Sec24d |
A |
G |
3: 123,130,138 (GRCm39) |
N434D |
probably benign |
Het |
Usp17la |
C |
T |
7: 104,509,827 (GRCm39) |
T144I |
possibly damaging |
Het |
Usp35 |
T |
C |
7: 96,970,799 (GRCm39) |
T336A |
possibly damaging |
Het |
|
Other mutations in Ccdc190 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00976:Ccdc190
|
APN |
1 |
169,761,309 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01696:Ccdc190
|
APN |
1 |
169,761,393 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02108:Ccdc190
|
APN |
1 |
169,761,555 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03338:Ccdc190
|
APN |
1 |
169,757,544 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
R1341:Ccdc190
|
UTSW |
1 |
169,757,586 (GRCm39) |
missense |
probably damaging |
0.99 |
R4828:Ccdc190
|
UTSW |
1 |
169,761,465 (GRCm39) |
missense |
probably damaging |
0.99 |
R4892:Ccdc190
|
UTSW |
1 |
169,757,678 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5023:Ccdc190
|
UTSW |
1 |
169,760,656 (GRCm39) |
missense |
probably damaging |
0.97 |
R5158:Ccdc190
|
UTSW |
1 |
169,760,578 (GRCm39) |
missense |
probably benign |
|
R6505:Ccdc190
|
UTSW |
1 |
169,760,592 (GRCm39) |
nonsense |
probably null |
|
R9461:Ccdc190
|
UTSW |
1 |
169,761,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2016-08-02 |