Incidental Mutation 'IGL01092:Ccdc83'
ID |
51502 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc83
|
Ensembl Gene |
ENSMUSG00000030617 |
Gene Name |
coiled-coil domain containing 83 |
Synonyms |
4932423M01Rik, 4930549K11Rik, 4930554C01Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01092
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
89873081-89914985 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 89896313 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 85
(D85E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047758
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040413]
[ENSMUST00000107220]
[ENSMUST00000107221]
|
AlphaFold |
Q9D4V3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040413
AA Change: D85E
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000047758 Gene: ENSMUSG00000030617 AA Change: D85E
Domain | Start | End | E-Value | Type |
coiled coil region
|
37 |
75 |
N/A |
INTRINSIC |
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
coiled coil region
|
107 |
182 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107220
AA Change: D85E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000102838 Gene: ENSMUSG00000030617 AA Change: D85E
Domain | Start | End | E-Value | Type |
coiled coil region
|
37 |
75 |
N/A |
INTRINSIC |
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
coiled coil region
|
107 |
182 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107221
AA Change: D85E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000102839 Gene: ENSMUSG00000030617 AA Change: D85E
Domain | Start | End | E-Value | Type |
coiled coil region
|
37 |
75 |
N/A |
INTRINSIC |
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
coiled coil region
|
107 |
182 |
N/A |
INTRINSIC |
Blast:BROMO
|
202 |
232 |
1e-5 |
BLAST |
low complexity region
|
241 |
249 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap33 |
T |
C |
7: 30,229,371 (GRCm39) |
R335G |
probably damaging |
Het |
Atad2b |
C |
T |
12: 5,067,987 (GRCm39) |
S995L |
probably damaging |
Het |
Atrn |
A |
T |
2: 130,789,556 (GRCm39) |
R340* |
probably null |
Het |
Chd2 |
A |
T |
7: 73,091,434 (GRCm39) |
H1602Q |
possibly damaging |
Het |
Cog2 |
A |
G |
8: 125,272,019 (GRCm39) |
D511G |
probably damaging |
Het |
Col4a4 |
G |
T |
1: 82,444,266 (GRCm39) |
P1334T |
unknown |
Het |
Creb3l4 |
T |
C |
3: 90,145,045 (GRCm39) |
E369G |
probably damaging |
Het |
Crnkl1 |
T |
C |
2: 145,761,868 (GRCm39) |
K563R |
probably benign |
Het |
Dbi |
T |
C |
1: 120,041,207 (GRCm39) |
K131E |
probably benign |
Het |
Edn1 |
A |
G |
13: 42,457,147 (GRCm39) |
D60G |
probably damaging |
Het |
Erbin |
T |
C |
13: 103,970,520 (GRCm39) |
N1032S |
probably damaging |
Het |
Ero1a |
T |
C |
14: 45,541,043 (GRCm39) |
D107G |
probably benign |
Het |
Glmn |
A |
T |
5: 107,726,378 (GRCm39) |
|
probably null |
Het |
Grxcr1 |
T |
C |
5: 68,267,905 (GRCm39) |
|
probably benign |
Het |
Itih3 |
T |
A |
14: 30,631,738 (GRCm39) |
K593I |
probably damaging |
Het |
Kmt2b |
T |
C |
7: 30,279,932 (GRCm39) |
Y1356C |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 40,640,959 (GRCm39) |
C3495Y |
probably damaging |
Het |
Map3k13 |
A |
T |
16: 21,746,766 (GRCm39) |
T950S |
probably damaging |
Het |
Me1 |
A |
T |
9: 86,480,801 (GRCm39) |
V348D |
probably damaging |
Het |
Morc2a |
T |
C |
11: 3,634,042 (GRCm39) |
V718A |
probably benign |
Het |
Myh7 |
T |
C |
14: 55,209,089 (GRCm39) |
E1883G |
possibly damaging |
Het |
Or10ak14 |
T |
A |
4: 118,610,959 (GRCm39) |
I259F |
possibly damaging |
Het |
Or8b49 |
T |
G |
9: 38,506,201 (GRCm39) |
I228R |
probably damaging |
Het |
Pdcd6ip |
A |
G |
9: 113,509,249 (GRCm39) |
|
probably benign |
Het |
Plcb3 |
T |
A |
19: 6,932,690 (GRCm39) |
E1025V |
probably benign |
Het |
Ppp1r26 |
C |
T |
2: 28,343,872 (GRCm39) |
|
probably benign |
Het |
Prkd1 |
T |
C |
12: 50,430,298 (GRCm39) |
|
probably benign |
Het |
Rwdd4a |
C |
T |
8: 47,997,147 (GRCm39) |
T122M |
possibly damaging |
Het |
Sdhb |
T |
G |
4: 140,704,791 (GRCm39) |
C251G |
probably damaging |
Het |
Siglec1 |
A |
T |
2: 130,921,137 (GRCm39) |
I678N |
probably damaging |
Het |
Snrnp70 |
T |
C |
7: 45,026,801 (GRCm39) |
D215G |
probably damaging |
Het |
Ston1 |
A |
G |
17: 88,951,871 (GRCm39) |
E674G |
probably benign |
Het |
Tbl3 |
T |
C |
17: 24,920,879 (GRCm39) |
|
probably benign |
Het |
Tbl3 |
A |
T |
17: 24,924,226 (GRCm39) |
I177N |
probably damaging |
Het |
Tnrc6c |
T |
C |
11: 117,612,811 (GRCm39) |
V483A |
probably damaging |
Het |
|
Other mutations in Ccdc83 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00595:Ccdc83
|
APN |
7 |
89,893,252 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01394:Ccdc83
|
APN |
7 |
89,873,209 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02585:Ccdc83
|
APN |
7 |
89,886,120 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02631:Ccdc83
|
APN |
7 |
89,893,277 (GRCm39) |
missense |
possibly damaging |
0.76 |
G1patch:Ccdc83
|
UTSW |
7 |
89,896,261 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4354001:Ccdc83
|
UTSW |
7 |
89,873,182 (GRCm39) |
missense |
probably benign |
0.21 |
R0189:Ccdc83
|
UTSW |
7 |
89,875,891 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0538:Ccdc83
|
UTSW |
7 |
89,877,591 (GRCm39) |
missense |
probably damaging |
0.99 |
R1441:Ccdc83
|
UTSW |
7 |
89,893,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R1478:Ccdc83
|
UTSW |
7 |
89,908,677 (GRCm39) |
missense |
probably damaging |
0.99 |
R1781:Ccdc83
|
UTSW |
7 |
89,899,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R1929:Ccdc83
|
UTSW |
7 |
89,873,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R1969:Ccdc83
|
UTSW |
7 |
89,893,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R1970:Ccdc83
|
UTSW |
7 |
89,893,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R1971:Ccdc83
|
UTSW |
7 |
89,893,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R2008:Ccdc83
|
UTSW |
7 |
89,893,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R2220:Ccdc83
|
UTSW |
7 |
89,908,722 (GRCm39) |
missense |
probably damaging |
0.96 |
R2271:Ccdc83
|
UTSW |
7 |
89,873,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R2426:Ccdc83
|
UTSW |
7 |
89,877,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R2985:Ccdc83
|
UTSW |
7 |
89,885,575 (GRCm39) |
intron |
probably benign |
|
R3712:Ccdc83
|
UTSW |
7 |
89,885,563 (GRCm39) |
intron |
probably benign |
|
R4241:Ccdc83
|
UTSW |
7 |
89,896,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R4260:Ccdc83
|
UTSW |
7 |
89,877,599 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4374:Ccdc83
|
UTSW |
7 |
89,875,986 (GRCm39) |
nonsense |
probably null |
|
R5071:Ccdc83
|
UTSW |
7 |
89,899,737 (GRCm39) |
missense |
probably damaging |
0.99 |
R5072:Ccdc83
|
UTSW |
7 |
89,899,737 (GRCm39) |
missense |
probably damaging |
0.99 |
R5074:Ccdc83
|
UTSW |
7 |
89,899,737 (GRCm39) |
missense |
probably damaging |
0.99 |
R5749:Ccdc83
|
UTSW |
7 |
89,873,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R5929:Ccdc83
|
UTSW |
7 |
89,885,524 (GRCm39) |
intron |
probably benign |
|
R6283:Ccdc83
|
UTSW |
7 |
89,885,615 (GRCm39) |
nonsense |
probably null |
|
R6574:Ccdc83
|
UTSW |
7 |
89,875,885 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6725:Ccdc83
|
UTSW |
7 |
89,896,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R7320:Ccdc83
|
UTSW |
7 |
89,873,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R7485:Ccdc83
|
UTSW |
7 |
89,873,138 (GRCm39) |
missense |
probably benign |
0.17 |
R7511:Ccdc83
|
UTSW |
7 |
89,886,130 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7750:Ccdc83
|
UTSW |
7 |
89,873,190 (GRCm39) |
nonsense |
probably null |
|
R7773:Ccdc83
|
UTSW |
7 |
89,879,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R7915:Ccdc83
|
UTSW |
7 |
89,893,290 (GRCm39) |
nonsense |
probably null |
|
R8184:Ccdc83
|
UTSW |
7 |
89,873,286 (GRCm39) |
nonsense |
probably null |
|
R8416:Ccdc83
|
UTSW |
7 |
89,885,513 (GRCm39) |
missense |
unknown |
|
R9182:Ccdc83
|
UTSW |
7 |
89,886,102 (GRCm39) |
missense |
probably damaging |
1.00 |
X0067:Ccdc83
|
UTSW |
7 |
89,896,363 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1088:Ccdc83
|
UTSW |
7 |
89,893,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-21 |