Incidental Mutation 'IGL02805:Ccdc9'
| ID |
360385 |
| 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: 0.069)
|
| Stock # |
IGL02805
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
16007967-16020720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16009199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 550
(M550V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041010]
[ENSMUST00000118976]
[ENSMUST00000169612]
|
| 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
AA Change: M550V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000114088
Gene: ENSMUSG00000041375
AA Change: M550V
| 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: ENSMUST00000131963
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146085
|
| SMART Domains |
Protein: ENSMUSP00000134049
Gene: ENSMUSG00000041375
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4594
|
1 |
85 |
5.2e-16 |
PFAM |
|
coiled coil region
|
135 |
163 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169612
|
| SMART Domains |
Protein: ENSMUSP00000127027
Gene: ENSMUSG00000091811
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
Pfam:InaF-motif
|
24 |
61 |
2.6e-20 |
PFAM |
|
low complexity region
|
104 |
120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172670
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
C |
11: 84,113,959 (GRCm39) |
|
probably benign |
Het |
| Ankdd1b |
A |
G |
13: 96,580,810 (GRCm39) |
S163P |
probably benign |
Het |
| Ap5z1 |
G |
A |
5: 142,456,038 (GRCm39) |
|
probably benign |
Het |
| Asb14 |
A |
G |
14: 26,623,144 (GRCm39) |
N172S |
possibly damaging |
Het |
| Avil |
G |
A |
10: 126,843,486 (GRCm39) |
V139I |
possibly damaging |
Het |
| C130073F10Rik |
A |
T |
4: 101,748,171 (GRCm39) |
M1K |
probably null |
Het |
| Ccdc33 |
T |
A |
9: 58,005,874 (GRCm39) |
I37F |
probably benign |
Het |
| Cfap119 |
T |
C |
7: 127,185,566 (GRCm39) |
D121G |
possibly damaging |
Het |
| Cgn |
T |
A |
3: 94,681,687 (GRCm39) |
L469F |
probably damaging |
Het |
| Dnaaf3 |
C |
T |
7: 4,526,704 (GRCm39) |
G458R |
possibly damaging |
Het |
| Dscaml1 |
T |
A |
9: 45,359,195 (GRCm39) |
N151K |
probably damaging |
Het |
| Dsel |
A |
G |
1: 111,790,046 (GRCm39) |
V163A |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,073,406 (GRCm39) |
|
probably benign |
Het |
| Fanca |
A |
T |
8: 124,016,233 (GRCm39) |
I670N |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,823,839 (GRCm39) |
V6524A |
probably benign |
Het |
| Gm10985 |
T |
C |
3: 53,752,514 (GRCm39) |
|
probably null |
Het |
| Gm1818 |
C |
T |
12: 48,602,518 (GRCm39) |
|
noncoding transcript |
Het |
| Hars2 |
C |
T |
18: 36,920,630 (GRCm39) |
R158* |
probably null |
Het |
| Htr5b |
A |
G |
1: 121,455,617 (GRCm39) |
V101A |
probably damaging |
Het |
| Ipp |
A |
G |
4: 116,386,885 (GRCm39) |
I356V |
possibly damaging |
Het |
| Itga8 |
T |
A |
2: 12,194,291 (GRCm39) |
N703I |
possibly damaging |
Het |
| Or8b3 |
T |
A |
9: 38,315,132 (GRCm39) |
|
probably benign |
Het |
| Ppp6r3 |
T |
C |
19: 3,542,428 (GRCm39) |
N406D |
probably benign |
Het |
| Rbbp6 |
G |
A |
7: 122,600,411 (GRCm39) |
|
probably benign |
Het |
| Rgs7 |
T |
C |
1: 174,977,262 (GRCm39) |
Y114C |
probably damaging |
Het |
| Ripor1 |
A |
G |
8: 106,344,203 (GRCm39) |
T446A |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,325,892 (GRCm39) |
D1562G |
probably damaging |
Het |
| Scaf11 |
A |
T |
15: 96,318,063 (GRCm39) |
D500E |
possibly damaging |
Het |
| Spock1 |
A |
G |
13: 58,055,391 (GRCm39) |
I4T |
possibly damaging |
Het |
| Srebf2 |
C |
A |
15: 82,054,045 (GRCm39) |
N35K |
probably benign |
Het |
| Srgap3 |
G |
T |
6: 112,704,224 (GRCm39) |
H922N |
probably damaging |
Het |
| Stk32c |
A |
C |
7: 138,701,762 (GRCm39) |
H112Q |
probably damaging |
Het |
| Styxl2 |
T |
C |
1: 165,926,630 (GRCm39) |
E994G |
probably damaging |
Het |
| Thumpd3 |
A |
G |
6: 113,043,758 (GRCm39) |
D391G |
probably damaging |
Het |
| Vmn2r38 |
T |
A |
7: 9,078,546 (GRCm39) |
H612L |
probably damaging |
Het |
| Vsig10l |
T |
G |
7: 43,114,666 (GRCm39) |
I289S |
probably damaging |
Het |
| Wwox |
G |
A |
8: 115,438,753 (GRCm39) |
G273E |
probably damaging |
Het |
| Zscan4d |
T |
G |
7: 10,898,897 (GRCm39) |
|
probably benign |
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 |
|
|
IGL02513:Ccdc9
|
APN |
7 |
16,018,434 (GRCm39) |
utr 5 prime |
probably benign |
|
|
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 |
2015-12-18 |
Incidental Mutation