Incidental Mutation 'R5749:Ccdc83'
| ID |
445919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc83
|
| Ensembl Gene |
ENSMUSG00000030617 |
| Gene Name |
coiled-coil domain containing 83 |
| Synonyms |
4932423M01Rik, 4930549K11Rik, 4930554C01Rik |
| MMRRC Submission |
043200-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5749 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
89873081-89914985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89873156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 400
(T400A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107221]
|
| AlphaFold |
Q9D4V3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107221
AA Change: T400A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102839
Gene: ENSMUSG00000030617
AA Change: T400A
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
G |
A |
11: 54,214,881 (GRCm39) |
|
probably null |
Het |
| Ankrd12 |
T |
C |
17: 66,293,091 (GRCm39) |
S781G |
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,782,799 (GRCm39) |
S523P |
probably benign |
Het |
| Ccdc163 |
T |
A |
4: 116,571,309 (GRCm39) |
C44* |
probably null |
Het |
| Cobl |
A |
G |
11: 12,216,965 (GRCm39) |
S426P |
possibly damaging |
Het |
| Cyp2b19 |
T |
C |
7: 26,462,844 (GRCm39) |
I242T |
possibly damaging |
Het |
| Efnb2 |
A |
C |
8: 8,689,347 (GRCm39) |
C92G |
probably damaging |
Het |
| Fam90a1a |
T |
A |
8: 22,453,057 (GRCm39) |
S137R |
possibly damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
| Fem1b |
A |
G |
9: 62,704,288 (GRCm39) |
L324P |
probably damaging |
Het |
| Fsd1 |
T |
A |
17: 56,302,849 (GRCm39) |
|
probably null |
Het |
| Gtpbp4 |
A |
G |
13: 9,045,983 (GRCm39) |
|
probably null |
Het |
| Ifi209 |
A |
C |
1: 173,464,893 (GRCm39) |
I8L |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,266,889 (GRCm39) |
E182G |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,703,743 (GRCm39) |
L87H |
probably damaging |
Het |
| Klk1b16 |
T |
C |
7: 43,790,210 (GRCm39) |
I160T |
probably benign |
Het |
| Lbp |
T |
A |
2: 158,161,673 (GRCm39) |
V52D |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,764,347 (GRCm39) |
V318A |
possibly damaging |
Het |
| Myo16 |
C |
T |
8: 10,463,245 (GRCm39) |
S604L |
probably benign |
Het |
| Or10ag52 |
C |
T |
2: 87,043,287 (GRCm39) |
T17I |
probably benign |
Het |
| Or10g1 |
T |
A |
14: 52,647,961 (GRCm39) |
M123L |
probably damaging |
Het |
| Or5b12 |
A |
G |
19: 12,897,589 (GRCm39) |
V28A |
probably benign |
Het |
| Or6c38 |
A |
T |
10: 128,928,966 (GRCm39) |
N292K |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,007,525 (GRCm39) |
D346G |
probably damaging |
Het |
| Ppara |
A |
T |
15: 85,673,229 (GRCm39) |
D140V |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,328,804 (GRCm39) |
D426E |
probably benign |
Het |
| Prss36 |
T |
A |
7: 127,532,814 (GRCm39) |
I192F |
probably damaging |
Het |
| Psg25 |
T |
C |
7: 18,258,776 (GRCm39) |
E300G |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,738,424 (GRCm39) |
F26L |
possibly damaging |
Het |
| Rapgef4 |
A |
T |
2: 72,073,101 (GRCm39) |
T796S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,534,267 (GRCm39) |
H3508R |
probably damaging |
Het |
| Tep1 |
T |
A |
14: 51,081,529 (GRCm39) |
D1282V |
possibly damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,310 (GRCm39) |
E59G |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,401,177 (GRCm39) |
H1040Q |
probably benign |
Het |
| Usp10 |
G |
A |
8: 120,667,872 (GRCm39) |
E58K |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,710,232 (GRCm39) |
T512A |
probably benign |
Het |
| Vmn2r52 |
C |
T |
7: 9,892,959 (GRCm39) |
D727N |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,655,979 (GRCm39) |
K346* |
probably null |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,546 (GRCm39) |
F2I |
probably benign |
Het |
| Zfp697 |
T |
C |
3: 98,332,780 (GRCm39) |
S69P |
probably benign |
Het |
| Zftraf1 |
A |
C |
15: 76,542,844 (GRCm39) |
|
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 |
|
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 |
|
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'- CTGTCACTCATGATGGGCAG -3'
(R):5'- AGAGCATCTCATTTGTCACACAC -3'
Sequencing Primer
(F):5'- CACTCATGATGGGCAGGTATATC -3'
(R):5'- TTTGTCACACACACTTGCCAACG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation