Incidental Mutation 'R6549:Ccdc54'
ID |
521465 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc54
|
Ensembl Gene |
ENSMUSG00000050685 |
Gene Name |
coiled-coil domain containing 54 |
Synonyms |
1700007N18Rik |
MMRRC Submission |
044674-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R6549 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
50410222-50411517 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 50410388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 293
(R293G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062439]
|
AlphaFold |
Q9DAL3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062439
AA Change: R293G
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000049864 Gene: ENSMUSG00000050685 AA Change: R293G
Domain | Start | End | E-Value | Type |
low complexity region
|
36 |
45 |
N/A |
INTRINSIC |
coiled coil region
|
79 |
148 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231324
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atm |
T |
C |
9: 53,404,477 (GRCm39) |
D1288G |
probably benign |
Het |
Atxn7 |
T |
C |
14: 14,013,087 (GRCm38) |
S2P |
probably damaging |
Het |
C1rl |
T |
A |
6: 124,485,487 (GRCm39) |
I286N |
probably benign |
Het |
Cndp1 |
A |
T |
18: 84,654,309 (GRCm39) |
I85K |
probably benign |
Het |
Col25a1 |
A |
G |
3: 129,976,444 (GRCm39) |
T110A |
probably benign |
Het |
Defb8 |
G |
T |
8: 19,497,560 (GRCm39) |
P17Q |
probably damaging |
Het |
Dnah1 |
A |
T |
14: 30,991,340 (GRCm39) |
L3146Q |
probably damaging |
Het |
Espn |
A |
T |
4: 152,215,525 (GRCm39) |
M1K |
probably null |
Het |
Gm9922 |
C |
A |
14: 101,966,893 (GRCm39) |
|
probably benign |
Het |
Hycc2 |
T |
C |
1: 58,578,759 (GRCm39) |
I264V |
probably benign |
Het |
Ldb3 |
A |
G |
14: 34,263,854 (GRCm39) |
M545T |
probably damaging |
Het |
Or8k30 |
A |
T |
2: 86,339,726 (GRCm39) |
I308L |
probably benign |
Het |
Piezo1 |
G |
A |
8: 123,227,002 (GRCm39) |
H420Y |
|
Het |
Primpol |
A |
T |
8: 47,058,185 (GRCm39) |
L115I |
probably damaging |
Het |
Pus10 |
G |
A |
11: 23,679,075 (GRCm39) |
|
probably null |
Het |
Rictor |
C |
G |
15: 6,825,656 (GRCm39) |
A1689G |
probably damaging |
Het |
Scn2a |
A |
G |
2: 65,595,018 (GRCm39) |
N1956D |
probably benign |
Het |
Scn4a |
T |
C |
11: 106,234,791 (GRCm39) |
D384G |
probably damaging |
Het |
Sell |
A |
G |
1: 163,893,198 (GRCm39) |
D138G |
probably damaging |
Het |
Slc4a7 |
T |
A |
14: 14,748,564 (GRCm38) |
F327L |
probably damaging |
Het |
Sox6 |
A |
G |
7: 115,085,927 (GRCm39) |
I680T |
possibly damaging |
Het |
Synj1 |
A |
G |
16: 90,735,565 (GRCm39) |
S1463P |
probably benign |
Het |
Vmn1r31 |
A |
T |
6: 58,449,648 (GRCm39) |
N72K |
possibly damaging |
Het |
Vmn2r77 |
A |
G |
7: 86,450,065 (GRCm39) |
I104V |
probably benign |
Het |
Zfp988 |
G |
A |
4: 147,416,310 (GRCm39) |
C248Y |
probably benign |
Het |
|
Other mutations in Ccdc54 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01517:Ccdc54
|
APN |
16 |
50,410,280 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01636:Ccdc54
|
APN |
16 |
50,410,277 (GRCm39) |
makesense |
probably null |
|
IGL01918:Ccdc54
|
APN |
16 |
50,411,215 (GRCm39) |
nonsense |
probably null |
|
IGL03205:Ccdc54
|
APN |
16 |
50,411,254 (GRCm39) |
missense |
possibly damaging |
0.94 |
PIT4382001:Ccdc54
|
UTSW |
16 |
50,411,219 (GRCm39) |
missense |
probably damaging |
0.97 |
PIT4544001:Ccdc54
|
UTSW |
16 |
50,410,343 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0053:Ccdc54
|
UTSW |
16 |
50,410,597 (GRCm39) |
missense |
probably benign |
0.23 |
R0053:Ccdc54
|
UTSW |
16 |
50,410,597 (GRCm39) |
missense |
probably benign |
0.23 |
R0312:Ccdc54
|
UTSW |
16 |
50,411,165 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1742:Ccdc54
|
UTSW |
16 |
50,410,601 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2054:Ccdc54
|
UTSW |
16 |
50,410,987 (GRCm39) |
missense |
probably damaging |
0.97 |
R4594:Ccdc54
|
UTSW |
16 |
50,410,380 (GRCm39) |
nonsense |
probably null |
|
R7034:Ccdc54
|
UTSW |
16 |
50,410,951 (GRCm39) |
missense |
probably benign |
0.04 |
R7658:Ccdc54
|
UTSW |
16 |
50,410,844 (GRCm39) |
missense |
probably benign |
0.09 |
R7873:Ccdc54
|
UTSW |
16 |
50,410,672 (GRCm39) |
missense |
probably benign |
|
R8064:Ccdc54
|
UTSW |
16 |
50,410,327 (GRCm39) |
missense |
probably benign |
0.00 |
R9707:Ccdc54
|
UTSW |
16 |
50,411,163 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGCAAGCTAGAGTCCACAG -3'
(R):5'- AAAATGCATCAGTGGGTTGC -3'
Sequencing Primer
(F):5'- AGCTAGAGTCCACAGGCAGC -3'
(R):5'- TGCATCAGTGGGTTGCAAAAAG -3'
|
Posted On |
2018-06-06 |