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: 0.060)
|
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 |