Incidental Mutation 'IGL02513:Ccdc9'
ID |
296657 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc9
|
Ensembl Gene |
ENSMUSG00000041375 |
Gene Name |
coiled-coil domain containing 9 |
Synonyms |
2600011L02Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
IGL02513
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
16007967-16020720 bp(-) (GRCm39) |
Type of Mutation |
utr 5 prime |
DNA Base Change (assembly) |
A to G
at 16018434 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133798
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041010]
[ENSMUST00000118976]
[ENSMUST00000145519]
[ENSMUST00000146609]
[ENSMUST00000150528]
[ENSMUST00000174270]
[ENSMUST00000148741]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041010
|
SMART Domains |
Protein: ENSMUSP00000035597 Gene: ENSMUSG00000041375
Domain | Start | End | E-Value | Type |
coiled coil region
|
5 |
52 |
N/A |
INTRINSIC |
low complexity region
|
75 |
95 |
N/A |
INTRINSIC |
low complexity region
|
121 |
135 |
N/A |
INTRINSIC |
coiled coil region
|
150 |
184 |
N/A |
INTRINSIC |
Pfam:DUF4594
|
203 |
378 |
1.1e-63 |
PFAM |
coiled coil region
|
425 |
453 |
N/A |
INTRINSIC |
low complexity region
|
490 |
507 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118976
|
SMART Domains |
Protein: ENSMUSP00000114088 Gene: ENSMUSG00000041375
Domain | Start | End | E-Value | Type |
coiled coil region
|
5 |
52 |
N/A |
INTRINSIC |
low complexity region
|
75 |
95 |
N/A |
INTRINSIC |
low complexity region
|
121 |
135 |
N/A |
INTRINSIC |
coiled coil region
|
150 |
184 |
N/A |
INTRINSIC |
Pfam:DUF4594
|
204 |
375 |
6.3e-57 |
PFAM |
coiled coil region
|
425 |
453 |
N/A |
INTRINSIC |
low complexity region
|
490 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
549 |
N/A |
INTRINSIC |
low complexity region
|
580 |
588 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124084
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129447
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137993
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144186
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145519
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146609
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150528
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174270
|
SMART Domains |
Protein: ENSMUSP00000133798 Gene: ENSMUSG00000041375
Domain | Start | End | E-Value | Type |
coiled coil region
|
5 |
52 |
N/A |
INTRINSIC |
low complexity region
|
75 |
95 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148741
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apob |
G |
T |
12: 8,042,979 (GRCm39) |
V787F |
probably benign |
Het |
Atg14 |
T |
C |
14: 47,786,451 (GRCm39) |
I268V |
probably benign |
Het |
Atg14 |
T |
A |
14: 47,783,081 (GRCm39) |
|
probably benign |
Het |
Atm |
A |
T |
9: 53,408,562 (GRCm39) |
|
probably benign |
Het |
Cers6 |
T |
C |
2: 68,899,013 (GRCm39) |
F217S |
probably benign |
Het |
Crebbp |
A |
C |
16: 3,944,469 (GRCm39) |
|
probably null |
Het |
Csmd1 |
T |
A |
8: 16,049,869 (GRCm39) |
|
probably benign |
Het |
Dmac2l |
A |
T |
12: 69,787,819 (GRCm39) |
Y85F |
probably benign |
Het |
Eml1 |
T |
A |
12: 108,496,571 (GRCm39) |
V609E |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,222,636 (GRCm39) |
S204P |
probably damaging |
Het |
Gpr152 |
A |
G |
19: 4,192,843 (GRCm39) |
D128G |
probably damaging |
Het |
Itgal |
T |
A |
7: 126,927,844 (GRCm39) |
V1013D |
possibly damaging |
Het |
Kctd18 |
A |
G |
1: 58,004,559 (GRCm39) |
Y112H |
probably damaging |
Het |
Kdm4d |
T |
A |
9: 14,375,850 (GRCm39) |
T3S |
probably benign |
Het |
Lrp1b |
C |
T |
2: 41,000,765 (GRCm39) |
|
probably null |
Het |
Mex3c |
T |
A |
18: 73,723,360 (GRCm39) |
D484E |
possibly damaging |
Het |
Nalf1 |
T |
A |
8: 9,257,930 (GRCm39) |
D406V |
probably benign |
Het |
Nat14 |
T |
C |
7: 4,927,050 (GRCm39) |
V74A |
possibly damaging |
Het |
Or2b6 |
A |
G |
13: 21,823,510 (GRCm39) |
F61S |
probably damaging |
Het |
Pabpc2 |
C |
T |
18: 39,908,193 (GRCm39) |
T486I |
probably benign |
Het |
Pgm2 |
A |
G |
5: 64,260,289 (GRCm39) |
|
probably benign |
Het |
Pkn3 |
T |
A |
2: 29,973,149 (GRCm39) |
I353N |
probably damaging |
Het |
Rbm44 |
T |
A |
1: 91,083,260 (GRCm39) |
S594R |
possibly damaging |
Het |
Rrbp1 |
C |
T |
2: 143,830,350 (GRCm39) |
A606T |
possibly damaging |
Het |
Tcof1 |
A |
G |
18: 60,964,850 (GRCm39) |
V623A |
possibly damaging |
Het |
Tg |
A |
G |
15: 66,577,123 (GRCm39) |
E1482G |
probably benign |
Het |
Uba1 |
A |
G |
X: 20,541,885 (GRCm39) |
T546A |
probably benign |
Het |
Vmn2r37 |
T |
C |
7: 9,220,934 (GRCm39) |
K310E |
probably benign |
Het |
Zbtb38 |
A |
T |
9: 96,569,126 (GRCm39) |
W653R |
probably damaging |
Het |
Zdhhc19 |
A |
T |
16: 32,318,440 (GRCm39) |
I99F |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,648,239 (GRCm39) |
Y974C |
probably damaging |
Het |
|
Other mutations in Ccdc9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01387:Ccdc9
|
APN |
7 |
16,018,424 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
IGL02167:Ccdc9
|
APN |
7 |
16,018,284 (GRCm39) |
nonsense |
probably null |
|
IGL02805:Ccdc9
|
APN |
7 |
16,009,199 (GRCm39) |
missense |
probably benign |
0.01 |
R0537:Ccdc9
|
UTSW |
7 |
16,014,701 (GRCm39) |
unclassified |
probably benign |
|
R0631:Ccdc9
|
UTSW |
7 |
16,012,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R1340:Ccdc9
|
UTSW |
7 |
16,009,315 (GRCm39) |
unclassified |
probably benign |
|
R1758:Ccdc9
|
UTSW |
7 |
16,010,161 (GRCm39) |
missense |
probably damaging |
0.99 |
R2067:Ccdc9
|
UTSW |
7 |
16,012,475 (GRCm39) |
splice site |
probably null |
|
R2207:Ccdc9
|
UTSW |
7 |
16,018,194 (GRCm39) |
critical splice donor site |
probably benign |
|
R5278:Ccdc9
|
UTSW |
7 |
16,012,306 (GRCm39) |
nonsense |
probably null |
|
R5371:Ccdc9
|
UTSW |
7 |
16,014,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R7341:Ccdc9
|
UTSW |
7 |
16,014,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R7526:Ccdc9
|
UTSW |
7 |
16,016,325 (GRCm39) |
missense |
probably damaging |
0.98 |
R7556:Ccdc9
|
UTSW |
7 |
16,018,491 (GRCm39) |
intron |
probably benign |
|
R7683:Ccdc9
|
UTSW |
7 |
16,018,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R8673:Ccdc9
|
UTSW |
7 |
16,018,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R9262:Ccdc9
|
UTSW |
7 |
16,012,400 (GRCm39) |
missense |
probably benign |
0.01 |
R9322:Ccdc9
|
UTSW |
7 |
16,012,360 (GRCm39) |
missense |
probably damaging |
0.99 |
R9481:Ccdc9
|
UTSW |
7 |
16,016,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |