Incidental Mutation 'PIT4354001:Ccdc83'
ID |
554820 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4354001 (G1)
|
Quality Score |
153.008 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
89873081-89914985 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 89873182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 391
(M391K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102839
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107221]
|
AlphaFold |
Q9D4V3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107221
AA Change: M391K
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000102839 Gene: ENSMUSG00000030617 AA Change: M391K
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 |
- 1x: 92.5%
- 3x: 90.1%
- 10x: 83.2%
- 20x: 69.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap2 |
A |
T |
5: 62,811,392 (GRCm39) |
Y1140N |
probably damaging |
Het |
Cntnap1 |
A |
T |
11: 101,072,123 (GRCm39) |
I459F |
probably damaging |
Het |
Cr2 |
T |
A |
1: 194,848,617 (GRCm39) |
Y302F |
probably damaging |
Het |
Ctu2 |
A |
T |
8: 123,205,714 (GRCm39) |
D179V |
probably damaging |
Het |
Cubn |
G |
A |
2: 13,473,663 (GRCm39) |
Q427* |
probably null |
Het |
Depdc7 |
A |
G |
2: 104,558,533 (GRCm39) |
S163P |
probably benign |
Het |
Eif2s3y |
C |
T |
Y: 1,020,126 (GRCm39) |
R385C |
probably benign |
Het |
Gigyf1 |
A |
G |
5: 137,522,366 (GRCm39) |
K728R |
unknown |
Het |
Gm1587 |
G |
A |
14: 78,034,473 (GRCm39) |
R32* |
probably null |
Het |
Hjv |
T |
C |
3: 96,435,761 (GRCm39) |
C340R |
probably damaging |
Het |
Isy1 |
A |
G |
6: 87,810,653 (GRCm39) |
I53T |
possibly damaging |
Het |
Myh8 |
A |
T |
11: 67,180,456 (GRCm39) |
N564I |
probably benign |
Het |
Neb |
A |
T |
2: 52,135,330 (GRCm39) |
I3260N |
probably damaging |
Het |
Npc1 |
C |
T |
18: 12,344,592 (GRCm39) |
G426E |
probably benign |
Het |
Nrdc |
G |
A |
4: 108,911,222 (GRCm39) |
|
probably null |
Het |
Or2v1 |
G |
A |
11: 49,025,132 (GRCm39) |
V38M |
probably damaging |
Het |
Or4c10b |
T |
A |
2: 89,711,852 (GRCm39) |
S227R |
probably benign |
Het |
Or4c116 |
C |
A |
2: 88,942,830 (GRCm39) |
E9* |
probably null |
Het |
Pate8 |
T |
A |
9: 36,492,597 (GRCm39) |
S103C |
possibly damaging |
Het |
Prss51 |
T |
A |
14: 64,334,546 (GRCm39) |
V91D |
probably damaging |
Het |
Qpct |
A |
C |
17: 79,389,188 (GRCm39) |
Y280S |
probably benign |
Het |
Rbpms |
A |
G |
8: 34,296,866 (GRCm39) |
V137A |
possibly damaging |
Het |
Rgl2 |
T |
A |
17: 34,152,914 (GRCm39) |
M441K |
possibly damaging |
Het |
Sdhaf3 |
A |
T |
6: 6,956,072 (GRCm39) |
I16F |
possibly damaging |
Het |
Slc38a3 |
T |
G |
9: 107,534,848 (GRCm39) |
N176H |
probably benign |
Het |
Sos1 |
T |
C |
17: 80,756,785 (GRCm39) |
S256G |
possibly damaging |
Het |
Spg11 |
A |
T |
2: 121,918,666 (GRCm39) |
C988S |
probably damaging |
Het |
Sync |
A |
T |
4: 129,200,447 (GRCm39) |
Q451L |
possibly damaging |
Het |
Tbc1d31 |
A |
G |
15: 57,831,329 (GRCm39) |
Y929C |
probably benign |
Het |
Thbs2 |
G |
A |
17: 14,910,230 (GRCm39) |
T123I |
probably damaging |
Het |
Thsd7a |
A |
C |
6: 12,331,926 (GRCm39) |
|
probably null |
Het |
Tnfrsf11a |
T |
C |
1: 105,749,242 (GRCm39) |
L220P |
probably damaging |
Het |
Trbv13-2 |
G |
A |
6: 41,098,752 (GRCm39) |
C109Y |
probably damaging |
Het |
Ugt3a1 |
G |
A |
15: 9,306,446 (GRCm39) |
W198* |
probably null |
Het |
Usp14 |
G |
A |
18: 9,996,189 (GRCm39) |
R464W |
probably damaging |
Het |
Vmn1r2 |
C |
T |
4: 3,172,162 (GRCm39) |
S27L |
probably benign |
Het |
Vmn1r68 |
T |
A |
7: 10,261,958 (GRCm39) |
N47Y |
probably benign |
Het |
Zfc3h1 |
T |
A |
10: 115,262,944 (GRCm39) |
Y1719* |
probably null |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTTCTGTCACTCATGATGGGC -3'
(R):5'- GAGCATCTCATTTGTCACACAC -3'
Sequencing Primer
(F):5'- CACTCATGATGGGCAGGTATATC -3'
(R):5'- TTTGTCACACACACTTGCCAACG -3'
|
Posted On |
2019-06-07 |