Incidental Mutation 'IGL01387:Ccdc9'
| ID |
79084 |
| 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 # |
IGL01387
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
16007967-16020720 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to C
at 16018424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 1
(M1R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041010]
[ENSMUST00000118976]
[ENSMUST00000145519]
[ENSMUST00000174270]
[ENSMUST00000148741]
[ENSMUST00000146609]
[ENSMUST00000150528]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041010
AA Change: M1R
|
| SMART Domains |
Protein: ENSMUSP00000035597
Gene: ENSMUSG00000041375
AA Change: M1R
| 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 null
Transcript: ENSMUST00000118976
AA Change: M1R
|
| SMART Domains |
Protein: ENSMUSP00000114088
Gene: ENSMUSG00000041375
AA Change: M1R
| 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 null
Transcript: ENSMUST00000145519
AA Change: M1R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174270
AA Change: M1R
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000133798
Gene: ENSMUSG00000041375
AA Change: M1R
| 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 null
Transcript: ENSMUST00000148741
AA Change: M1R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146609
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150528
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,835,596 (GRCm39) |
I288T |
possibly damaging |
Het |
| Akr1c13 |
T |
A |
13: 4,247,794 (GRCm39) |
|
probably null |
Het |
| Ano2 |
T |
C |
6: 125,990,240 (GRCm39) |
L787P |
probably damaging |
Het |
| Arf4 |
A |
T |
14: 26,374,300 (GRCm39) |
I73F |
possibly damaging |
Het |
| Atp6v1e1 |
A |
G |
6: 120,772,732 (GRCm39) |
|
probably null |
Het |
| Cep162 |
A |
G |
9: 87,093,864 (GRCm39) |
L838S |
probably benign |
Het |
| Cfap251 |
T |
A |
5: 123,421,609 (GRCm39) |
I654N |
probably damaging |
Het |
| Cfi |
T |
A |
3: 129,668,562 (GRCm39) |
|
probably benign |
Het |
| Creb3l3 |
T |
C |
10: 80,927,110 (GRCm39) |
T107A |
probably benign |
Het |
| Erlin2 |
T |
C |
8: 27,526,576 (GRCm39) |
L312P |
probably benign |
Het |
| Etv1 |
T |
G |
12: 38,911,326 (GRCm39) |
M384R |
probably damaging |
Het |
| Exph5 |
G |
T |
9: 53,285,265 (GRCm39) |
S782I |
possibly damaging |
Het |
| Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,823,326 (GRCm39) |
N6353S |
possibly damaging |
Het |
| Gk5 |
T |
C |
9: 96,059,607 (GRCm39) |
|
probably null |
Het |
| Gm11168 |
T |
G |
9: 3,005,128 (GRCm39) |
S202R |
possibly damaging |
Het |
| Hdlbp |
T |
C |
1: 93,341,310 (GRCm39) |
D1016G |
possibly damaging |
Het |
| Kpna4 |
A |
G |
3: 69,009,590 (GRCm39) |
|
probably benign |
Het |
| Lrrn2 |
T |
C |
1: 132,866,096 (GRCm39) |
V387A |
possibly damaging |
Het |
| Or4a76 |
T |
A |
2: 89,460,964 (GRCm39) |
R93* |
probably null |
Het |
| Or5bw2 |
A |
G |
7: 6,573,854 (GRCm39) |
Y288C |
probably damaging |
Het |
| Or6c33 |
T |
A |
10: 129,853,710 (GRCm39) |
M160K |
probably damaging |
Het |
| Or8g23 |
A |
G |
9: 38,971,617 (GRCm39) |
L115S |
probably damaging |
Het |
| Or8k37 |
T |
C |
2: 86,469,594 (GRCm39) |
T153A |
probably benign |
Het |
| Plekhs1 |
A |
G |
19: 56,459,403 (GRCm39) |
Q51R |
probably benign |
Het |
| Rab27b |
T |
A |
18: 70,118,380 (GRCm39) |
D179V |
possibly damaging |
Het |
| Rprd2 |
C |
T |
3: 95,672,631 (GRCm39) |
R924H |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,045,998 (GRCm39) |
I905T |
probably damaging |
Het |
| Trpm8 |
T |
C |
1: 88,271,009 (GRCm39) |
L433P |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,554,649 (GRCm39) |
L1861S |
possibly damaging |
Het |
| Vmn2r124 |
C |
A |
17: 18,283,188 (GRCm39) |
T294K |
probably damaging |
Het |
| Znrf3 |
A |
T |
11: 5,288,656 (GRCm39) |
C37* |
probably null |
Het |
|
| Other mutations in Ccdc9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02167:Ccdc9
|
APN |
7 |
16,018,284 (GRCm39) |
nonsense |
probably null |
|
|
IGL02513:Ccdc9
|
APN |
7 |
16,018,434 (GRCm39) |
utr 5 prime |
probably benign |
|
|
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 |
2013-11-05 |
Incidental Mutation