Incidental Mutation 'IGL00469:Ccdc9b'
| ID |
7081 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc9b
|
| Ensembl Gene |
ENSMUSG00000045838 |
| Gene Name |
coiled-coil domain containing 9B |
| Synonyms |
A430105I19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00469
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
118584639-118593142 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118590170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 225
(S225G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059997]
|
| AlphaFold |
A3KGF9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059997
AA Change: S225G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000051853
Gene: ENSMUSG00000045838
AA Change: S225G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
52 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
154 |
N/A |
INTRINSIC |
|
Pfam:DUF4594
|
185 |
361 |
1.2e-64 |
PFAM |
|
low complexity region
|
515 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
544 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151270
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna2d4 |
A |
G |
6: 119,245,239 (GRCm39) |
I316V |
probably damaging |
Het |
| Ccnb1ip1 |
G |
A |
14: 51,029,556 (GRCm39) |
R169C |
probably damaging |
Het |
| Crip1 |
G |
T |
12: 113,115,755 (GRCm39) |
D59Y |
probably damaging |
Het |
| Cstf2 |
T |
A |
X: 132,974,905 (GRCm39) |
H354Q |
probably damaging |
Het |
| Dcaf8l |
C |
A |
X: 88,449,944 (GRCm39) |
V62F |
possibly damaging |
Het |
| Dchs1 |
A |
T |
7: 105,404,468 (GRCm39) |
D2691E |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,179,603 (GRCm39) |
|
probably benign |
Het |
| Fam199x |
T |
C |
X: 135,972,860 (GRCm39) |
I222T |
probably damaging |
Het |
| Flt1 |
A |
T |
5: 147,540,415 (GRCm39) |
L758Q |
probably damaging |
Het |
| Fxr2 |
T |
G |
11: 69,532,965 (GRCm39) |
L181R |
possibly damaging |
Het |
| Gpr158 |
G |
T |
2: 21,751,606 (GRCm39) |
|
probably benign |
Het |
| Hsd3b9 |
T |
A |
3: 98,363,716 (GRCm39) |
Q43L |
probably benign |
Het |
| Lancl2 |
T |
C |
6: 57,711,011 (GRCm39) |
W390R |
probably damaging |
Het |
| Pola1 |
C |
T |
X: 92,638,391 (GRCm39) |
V459I |
possibly damaging |
Het |
| Pola1 |
T |
C |
X: 92,604,991 (GRCm39) |
T981A |
probably damaging |
Het |
| Prss44 |
T |
C |
9: 110,644,557 (GRCm39) |
S222P |
probably benign |
Het |
| Sec16a |
T |
C |
2: 26,318,312 (GRCm39) |
N1593S |
probably damaging |
Het |
| Slco2b1 |
A |
G |
7: 99,309,318 (GRCm39) |
I671T |
probably benign |
Het |
| Tm9sf4 |
T |
C |
2: 153,044,275 (GRCm39) |
I509T |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,626,702 (GRCm39) |
T351A |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,282,273 (GRCm39) |
Q768R |
probably damaging |
Het |
| Zfp984 |
C |
T |
4: 147,839,343 (GRCm39) |
G503S |
probably benign |
Het |
|
| Other mutations in Ccdc9b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03327:Ccdc9b
|
APN |
2 |
118,592,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1269:Ccdc9b
|
UTSW |
2 |
118,591,871 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1453:Ccdc9b
|
UTSW |
2 |
118,587,903 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1495:Ccdc9b
|
UTSW |
2 |
118,591,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1529:Ccdc9b
|
UTSW |
2 |
118,592,241 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1765:Ccdc9b
|
UTSW |
2 |
118,591,128 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4766:Ccdc9b
|
UTSW |
2 |
118,590,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5445:Ccdc9b
|
UTSW |
2 |
118,590,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5891:Ccdc9b
|
UTSW |
2 |
118,591,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5895:Ccdc9b
|
UTSW |
2 |
118,590,098 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7271:Ccdc9b
|
UTSW |
2 |
118,591,164 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7946:Ccdc9b
|
UTSW |
2 |
118,590,146 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8024:Ccdc9b
|
UTSW |
2 |
118,591,005 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8293:Ccdc9b
|
UTSW |
2 |
118,591,796 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8544:Ccdc9b
|
UTSW |
2 |
118,587,702 (GRCm39) |
missense |
unknown |
|
|
R8728:Ccdc9b
|
UTSW |
2 |
118,587,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8786:Ccdc9b
|
UTSW |
2 |
118,587,732 (GRCm39) |
missense |
unknown |
|
|
R9710:Ccdc9b
|
UTSW |
2 |
118,591,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9792:Ccdc9b
|
UTSW |
2 |
118,587,784 (GRCm39) |
missense |
unknown |
|
|
R9793:Ccdc9b
|
UTSW |
2 |
118,587,784 (GRCm39) |
missense |
unknown |
|
|
R9795:Ccdc9b
|
UTSW |
2 |
118,587,784 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation