Incidental Mutation 'IGL00863:Ccdc192'
ID |
8419 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc192
|
Ensembl Gene |
ENSMUSG00000058925 |
Gene Name |
coiled-coil domain containing 192 |
Synonyms |
1700011I03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
IGL00863
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
57666852-57864137 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57727158 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 136
(E136V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078674
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079738]
[ENSMUST00000135806]
|
AlphaFold |
E9PYL8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079738
AA Change: E136V
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000078674 Gene: ENSMUSG00000058925 AA Change: E136V
Domain | Start | End | E-Value | Type |
coiled coil region
|
68 |
177 |
N/A |
INTRINSIC |
coiled coil region
|
220 |
260 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000123872
AA Change: E118V
|
SMART Domains |
Protein: ENSMUSP00000114519 Gene: ENSMUSG00000058925 AA Change: E118V
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
19 |
N/A |
INTRINSIC |
coiled coil region
|
50 |
159 |
N/A |
INTRINSIC |
coiled coil region
|
202 |
242 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135806
AA Change: E136V
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000115752 Gene: ENSMUSG00000058925 AA Change: E136V
Domain | Start | End | E-Value | Type |
coiled coil region
|
68 |
151 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bsn |
A |
G |
9: 107,992,521 (GRCm39) |
I1077T |
probably damaging |
Het |
Car8 |
A |
G |
4: 8,183,251 (GRCm39) |
|
probably null |
Het |
Ccny |
A |
T |
18: 9,345,444 (GRCm39) |
D143E |
probably benign |
Het |
Cdh19 |
A |
G |
1: 110,876,874 (GRCm39) |
V155A |
probably damaging |
Het |
Cript |
T |
A |
17: 87,335,151 (GRCm39) |
I14N |
probably damaging |
Het |
Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
Cyria |
A |
T |
12: 12,409,235 (GRCm39) |
I72F |
probably benign |
Het |
Eef1b2 |
G |
A |
1: 63,217,665 (GRCm39) |
G91R |
probably damaging |
Het |
Fbln5 |
A |
G |
12: 101,776,175 (GRCm39) |
V60A |
probably damaging |
Het |
Fbn1 |
T |
A |
2: 125,245,139 (GRCm39) |
E249D |
possibly damaging |
Het |
G6pc1 |
G |
T |
11: 101,261,549 (GRCm39) |
R83L |
probably damaging |
Het |
Grik2 |
A |
G |
10: 49,232,024 (GRCm39) |
V502A |
possibly damaging |
Het |
Heatr1 |
T |
C |
13: 12,450,009 (GRCm39) |
V2001A |
probably benign |
Het |
Il4i1 |
T |
A |
7: 44,487,470 (GRCm39) |
Y148* |
probably null |
Het |
Jmjd4 |
T |
C |
11: 59,341,569 (GRCm39) |
S113P |
probably benign |
Het |
Nceh1 |
C |
T |
3: 27,295,462 (GRCm39) |
P241L |
probably damaging |
Het |
Pals1 |
A |
G |
12: 78,856,595 (GRCm39) |
D146G |
probably damaging |
Het |
Pcdh10 |
T |
A |
3: 45,334,737 (GRCm39) |
D350E |
probably damaging |
Het |
Pdgfrl |
A |
G |
8: 41,438,571 (GRCm39) |
E169G |
probably damaging |
Het |
Ppm1l |
T |
A |
3: 69,225,283 (GRCm39) |
D128E |
probably damaging |
Het |
Rasa1 |
A |
G |
13: 85,436,548 (GRCm39) |
V160A |
probably benign |
Het |
Serf2 |
T |
C |
2: 121,288,184 (GRCm39) |
|
probably null |
Het |
Slitrk1 |
T |
A |
14: 109,149,269 (GRCm39) |
N481Y |
probably damaging |
Het |
Tas2r139 |
T |
G |
6: 42,118,055 (GRCm39) |
S62R |
probably damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,380 (GRCm39) |
T226S |
probably benign |
Het |
Tvp23b |
C |
A |
11: 62,774,464 (GRCm39) |
A36E |
probably damaging |
Het |
Upp2 |
G |
A |
2: 58,680,076 (GRCm39) |
E301K |
probably benign |
Het |
|
Other mutations in Ccdc192 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01646:Ccdc192
|
APN |
18 |
57,800,417 (GRCm39) |
nonsense |
probably null |
|
R0115:Ccdc192
|
UTSW |
18 |
57,727,214 (GRCm39) |
splice site |
probably benign |
|
R0285:Ccdc192
|
UTSW |
18 |
57,666,937 (GRCm39) |
missense |
probably damaging |
0.99 |
R1087:Ccdc192
|
UTSW |
18 |
57,863,870 (GRCm39) |
missense |
probably damaging |
0.96 |
R1923:Ccdc192
|
UTSW |
18 |
57,666,959 (GRCm39) |
missense |
probably damaging |
0.99 |
R4927:Ccdc192
|
UTSW |
18 |
57,863,888 (GRCm39) |
nonsense |
probably null |
|
R5133:Ccdc192
|
UTSW |
18 |
57,697,041 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5508:Ccdc192
|
UTSW |
18 |
57,671,156 (GRCm39) |
splice site |
probably null |
|
R5509:Ccdc192
|
UTSW |
18 |
57,671,156 (GRCm39) |
splice site |
probably null |
|
R5510:Ccdc192
|
UTSW |
18 |
57,671,156 (GRCm39) |
splice site |
probably null |
|
R5511:Ccdc192
|
UTSW |
18 |
57,671,156 (GRCm39) |
splice site |
probably null |
|
R6629:Ccdc192
|
UTSW |
18 |
57,863,852 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7089:Ccdc192
|
UTSW |
18 |
57,725,059 (GRCm39) |
missense |
probably benign |
0.11 |
R7545:Ccdc192
|
UTSW |
18 |
57,863,895 (GRCm39) |
missense |
probably damaging |
0.98 |
R7700:Ccdc192
|
UTSW |
18 |
57,696,388 (GRCm39) |
splice site |
probably null |
|
R8045:Ccdc192
|
UTSW |
18 |
57,863,991 (GRCm39) |
missense |
probably damaging |
0.99 |
R8098:Ccdc192
|
UTSW |
18 |
57,800,403 (GRCm39) |
missense |
probably benign |
0.02 |
R8973:Ccdc192
|
UTSW |
18 |
57,725,139 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9011:Ccdc192
|
UTSW |
18 |
57,800,376 (GRCm39) |
missense |
possibly damaging |
0.61 |
X0021:Ccdc192
|
UTSW |
18 |
57,727,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2012-12-06 |