Incidental Mutation 'IGL01394:Ccdc83'
| ID |
79366 |
| 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 # |
IGL01394
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
89873081-89914985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89873209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 382
(E382G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107221]
|
| AlphaFold |
Q9D4V3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107221
AA Change: E382G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102839
Gene: ENSMUSG00000030617
AA Change: E382G
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
G |
A |
7: 130,747,960 (GRCm39) |
Q11* |
probably null |
Het |
| Acot5 |
T |
C |
12: 84,122,262 (GRCm39) |
I282T |
probably benign |
Het |
| Adcy2 |
A |
G |
13: 69,130,521 (GRCm39) |
V122A |
probably damaging |
Het |
| Aldh16a1 |
A |
C |
7: 44,794,937 (GRCm39) |
S511A |
probably benign |
Het |
| Arid3b |
T |
C |
9: 57,702,317 (GRCm39) |
E480G |
probably damaging |
Het |
| Baz2a |
T |
C |
10: 127,954,514 (GRCm39) |
V723A |
possibly damaging |
Het |
| Bmpr1b |
A |
G |
3: 141,568,742 (GRCm39) |
|
probably null |
Het |
| Cfap46 |
A |
G |
7: 139,246,895 (GRCm39) |
Y349H |
probably damaging |
Het |
| Clpx |
T |
C |
9: 65,217,495 (GRCm39) |
V21A |
probably damaging |
Het |
| Clstn1 |
A |
G |
4: 149,719,239 (GRCm39) |
N356S |
possibly damaging |
Het |
| Ctnnd1 |
A |
G |
2: 84,435,600 (GRCm39) |
|
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,367,945 (GRCm39) |
N505S |
probably benign |
Het |
| Eaf2 |
G |
A |
16: 36,630,928 (GRCm39) |
P82S |
probably damaging |
Het |
| Fbxw26 |
T |
C |
9: 109,547,057 (GRCm39) |
Y456C |
probably benign |
Het |
| Foxred2 |
T |
C |
15: 77,839,820 (GRCm39) |
T157A |
probably benign |
Het |
| Fscb |
A |
T |
12: 64,520,578 (GRCm39) |
I296K |
possibly damaging |
Het |
| Gad1-ps |
A |
G |
10: 99,281,424 (GRCm39) |
|
noncoding transcript |
Het |
| Golgb1 |
A |
G |
16: 36,751,926 (GRCm39) |
E3120G |
probably damaging |
Het |
| Ift140 |
A |
G |
17: 25,313,676 (GRCm39) |
D1369G |
probably benign |
Het |
| Kcnk13 |
T |
C |
12: 100,027,921 (GRCm39) |
V332A |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,664,983 (GRCm39) |
D661E |
probably null |
Het |
| Lum |
A |
T |
10: 97,404,834 (GRCm39) |
D243V |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,220,975 (GRCm39) |
T86A |
possibly damaging |
Het |
| Mpdz |
A |
T |
4: 81,210,728 (GRCm39) |
V1706D |
possibly damaging |
Het |
| Myrfl |
T |
C |
10: 116,658,592 (GRCm39) |
Q455R |
probably benign |
Het |
| Or6k2 |
T |
C |
1: 173,986,423 (GRCm39) |
F28S |
probably damaging |
Het |
| Or8c20 |
T |
A |
9: 38,261,101 (GRCm39) |
S241T |
possibly damaging |
Het |
| Papolg |
G |
A |
11: 23,817,235 (GRCm39) |
T654I |
probably benign |
Het |
| Pappa2 |
G |
A |
1: 158,592,674 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
C |
T |
17: 84,864,858 (GRCm39) |
T82I |
probably benign |
Het |
| Prrc2a |
A |
G |
17: 35,372,080 (GRCm39) |
V1773A |
probably benign |
Het |
| Psmb8 |
G |
T |
17: 34,419,703 (GRCm39) |
V186L |
probably damaging |
Het |
| Rin3 |
T |
C |
12: 102,339,862 (GRCm39) |
V604A |
probably damaging |
Het |
| Rtn1 |
T |
C |
12: 72,355,190 (GRCm39) |
D252G |
probably benign |
Het |
| Sdk1 |
C |
T |
5: 141,598,970 (GRCm39) |
H212Y |
probably benign |
Het |
| Slc5a5 |
G |
T |
8: 71,342,032 (GRCm39) |
Y307* |
probably null |
Het |
| Slc9a9 |
T |
A |
9: 95,005,090 (GRCm39) |
L499Q |
probably benign |
Het |
| Snx8 |
C |
A |
5: 140,337,934 (GRCm39) |
G237V |
probably benign |
Het |
| Spata18 |
T |
A |
5: 73,836,688 (GRCm39) |
|
probably null |
Het |
| Stard9 |
A |
G |
2: 120,536,808 (GRCm39) |
E417G |
possibly damaging |
Het |
| Ubr5 |
T |
C |
15: 38,009,875 (GRCm39) |
D1034G |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 6,045,024 (GRCm39) |
|
probably null |
Het |
| Xrcc6 |
A |
G |
15: 81,909,862 (GRCm39) |
K89R |
possibly damaging |
Het |
| Yeats2 |
T |
C |
16: 19,980,782 (GRCm39) |
V237A |
probably damaging |
Het |
| Zdhhc6 |
A |
G |
19: 55,298,324 (GRCm39) |
W178R |
probably benign |
Het |
| Zfp280b |
C |
A |
10: 75,875,497 (GRCm39) |
Q459K |
probably damaging |
Het |
| Zfp811 |
C |
A |
17: 33,016,794 (GRCm39) |
K414N |
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 |
|
IGL01092:Ccdc83
|
APN |
7 |
89,896,313 (GRCm39) |
missense |
probably benign |
0.11 |
|
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 |
2013-11-05 |
Incidental Mutation