Incidental Mutation 'IGL00549:Ccdc149'
| ID |
332585 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc149
|
| Ensembl Gene |
ENSMUSG00000045790 |
| Gene Name |
coiled-coil domain containing 149 |
| Synonyms |
Gm447, LOC242997 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
IGL00549
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
52531993-52628863 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 52533664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 501
(V501I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059428]
[ENSMUST00000101208]
[ENSMUST00000198008]
|
| AlphaFold |
F6V035 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059428
AA Change: V501I
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000062411
Gene: ENSMUSG00000045790
AA Change: V501I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2353
|
21 |
333 |
3.5e-117 |
PFAM |
|
low complexity region
|
388 |
404 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101208
|
| SMART Domains |
Protein: ENSMUSP00000098768
Gene: ENSMUSG00000072941
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Sod_Cu
|
85 |
224 |
1.5e-32 |
PFAM |
|
low complexity region
|
233 |
251 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198008
|
| SMART Domains |
Protein: ENSMUSP00000143041
Gene: ENSMUSG00000045790
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2353
|
21 |
138 |
1.5e-28 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000213027
AA Change: V325I
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd33 |
C |
T |
15: 101,014,840 (GRCm39) |
L76F |
probably damaging |
Het |
| Efhc1 |
C |
T |
1: 21,049,705 (GRCm39) |
Q522* |
probably null |
Het |
| Exoc8 |
A |
T |
8: 125,623,611 (GRCm39) |
I252N |
probably damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,759,418 (GRCm39) |
M408K |
probably damaging |
Het |
| Igkv4-70 |
A |
G |
6: 69,245,075 (GRCm39) |
S49P |
probably damaging |
Het |
| Itga1 |
C |
T |
13: 115,185,832 (GRCm39) |
E57K |
possibly damaging |
Het |
| Mavs |
T |
C |
2: 131,088,636 (GRCm39) |
L480P |
probably damaging |
Het |
| Orc2 |
T |
A |
1: 58,520,201 (GRCm39) |
Q160L |
probably benign |
Het |
| Phldb1 |
A |
G |
9: 44,622,443 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,791,735 (GRCm39) |
S1141T |
probably benign |
Het |
| Slc8a1 |
A |
G |
17: 81,956,600 (GRCm39) |
I146T |
probably damaging |
Het |
| Specc1l |
G |
A |
10: 75,082,055 (GRCm39) |
V501I |
probably benign |
Het |
| Taf2 |
T |
C |
15: 54,894,511 (GRCm39) |
T937A |
probably benign |
Het |
| Vps9d1 |
C |
A |
8: 123,971,937 (GRCm39) |
R556L |
probably damaging |
Het |
|
| Other mutations in Ccdc149 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02002:Ccdc149
|
APN |
5 |
52,563,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pequeno
|
UTSW |
5 |
52,562,475 (GRCm39) |
nonsense |
probably null |
|
|
R0226:Ccdc149
|
UTSW |
5 |
52,557,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0420:Ccdc149
|
UTSW |
5 |
52,557,581 (GRCm39) |
splice site |
probably benign |
|
|
R0959:Ccdc149
|
UTSW |
5 |
52,542,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2075:Ccdc149
|
UTSW |
5 |
52,596,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2355:Ccdc149
|
UTSW |
5 |
52,578,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4755:Ccdc149
|
UTSW |
5 |
52,561,493 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5596:Ccdc149
|
UTSW |
5 |
52,561,493 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5955:Ccdc149
|
UTSW |
5 |
52,533,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5993:Ccdc149
|
UTSW |
5 |
52,560,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6351:Ccdc149
|
UTSW |
5 |
52,542,477 (GRCm39) |
missense |
probably benign |
|
|
R6742:Ccdc149
|
UTSW |
5 |
52,562,475 (GRCm39) |
nonsense |
probably null |
|
|
R6939:Ccdc149
|
UTSW |
5 |
52,533,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6963:Ccdc149
|
UTSW |
5 |
52,596,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7379:Ccdc149
|
UTSW |
5 |
52,562,408 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7715:Ccdc149
|
UTSW |
5 |
52,561,533 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7920:Ccdc149
|
UTSW |
5 |
52,562,436 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8154:Ccdc149
|
UTSW |
5 |
52,542,446 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8489:Ccdc149
|
UTSW |
5 |
52,533,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8791:Ccdc149
|
UTSW |
5 |
52,596,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9091:Ccdc149
|
UTSW |
5 |
52,563,352 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9270:Ccdc149
|
UTSW |
5 |
52,563,352 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9332:Ccdc149
|
UTSW |
5 |
52,562,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9334:Ccdc149
|
UTSW |
5 |
52,578,171 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9501:Ccdc149
|
UTSW |
5 |
52,542,477 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ccdc149
|
UTSW |
5 |
52,578,155 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2015-08-05 |
Incidental Mutation