Incidental Mutation 'IGL02316:Ccdc85c'
| ID |
288034 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc85c
|
| Ensembl Gene |
ENSMUSG00000084883 |
| Gene Name |
coiled-coil domain containing 85C |
| Synonyms |
hhy, Gm9010 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
IGL02316
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
108169861-108241684 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108177829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 321
(H321L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000136175]
[ENSMUST00000222310]
|
| AlphaFold |
E9Q6B2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136175
AA Change: H321L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125757
Gene: ENSMUSG00000084883
AA Change: H321L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
Pfam:DUF2216
|
16 |
220 |
6.9e-99 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222310
AA Change: H308L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice display hydrocephalus, intracranial hemorrhage due to ventricular dilatation, and heterotopia in the subcortical regions. Hydroencephaly usually becomes evident before 15 weeks of age and affected animals die within several days after notice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c13 |
G |
T |
13: 4,253,458 (GRCm39) |
|
probably benign |
Het |
| Arhgap26 |
C |
T |
18: 38,775,599 (GRCm39) |
|
noncoding transcript |
Het |
| Atp5f1b |
T |
C |
10: 127,920,178 (GRCm39) |
V108A |
probably benign |
Het |
| B230307C23Rik |
G |
A |
16: 97,809,850 (GRCm39) |
V9M |
probably damaging |
Het |
| Diaph3 |
A |
T |
14: 87,223,551 (GRCm39) |
M321K |
possibly damaging |
Het |
| Dicer1 |
G |
A |
12: 104,668,812 (GRCm39) |
A1290V |
probably damaging |
Het |
| Dnah6 |
G |
A |
6: 73,145,894 (GRCm39) |
T839M |
probably benign |
Het |
| Eif3a |
G |
A |
19: 60,760,076 (GRCm39) |
|
probably benign |
Het |
| Eml1 |
T |
C |
12: 108,501,018 (GRCm39) |
|
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,887,519 (GRCm39) |
Q769R |
probably damaging |
Het |
| Fam184a |
T |
G |
10: 53,514,335 (GRCm39) |
T426P |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,809,137 (GRCm39) |
H1819N |
probably benign |
Het |
| Gm6686 |
T |
A |
17: 15,786,500 (GRCm39) |
|
probably benign |
Het |
| Hadha |
T |
C |
5: 30,331,565 (GRCm39) |
S464G |
probably benign |
Het |
| Ighv5-17 |
A |
T |
12: 113,822,775 (GRCm39) |
C115* |
probably null |
Het |
| Jmjd6 |
T |
C |
11: 116,733,928 (GRCm39) |
Y31C |
possibly damaging |
Het |
| Klrb1-ps1 |
G |
A |
6: 129,093,532 (GRCm39) |
|
noncoding transcript |
Het |
| Mgat1 |
T |
C |
11: 49,152,185 (GRCm39) |
Y223H |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,569,668 (GRCm39) |
S243P |
possibly damaging |
Het |
| Numa1 |
T |
C |
7: 101,650,577 (GRCm39) |
L69P |
probably damaging |
Het |
| Or11h6 |
T |
C |
14: 50,879,744 (GRCm39) |
I2T |
probably benign |
Het |
| Or1j21 |
A |
T |
2: 36,683,632 (GRCm39) |
H128L |
probably damaging |
Het |
| Or1j4 |
C |
A |
2: 36,740,294 (GRCm39) |
P79T |
probably damaging |
Het |
| Or4p23 |
A |
G |
2: 88,577,187 (GRCm39) |
F15S |
probably damaging |
Het |
| Pde1c |
A |
T |
6: 56,128,336 (GRCm39) |
D332E |
possibly damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,162,835 (GRCm39) |
I1143V |
probably benign |
Het |
| Rsl1 |
T |
A |
13: 67,325,120 (GRCm39) |
|
probably null |
Het |
| Scg2 |
A |
C |
1: 79,413,398 (GRCm39) |
L442V |
probably damaging |
Het |
| Sez6l |
A |
T |
5: 112,610,828 (GRCm39) |
V530E |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,200,489 (GRCm39) |
I4655T |
possibly damaging |
Het |
| Zcwpw1 |
T |
C |
5: 137,808,272 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ccdc85c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01916:Ccdc85c
|
APN |
12 |
108,174,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02061:Ccdc85c
|
APN |
12 |
108,188,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02516:Ccdc85c
|
APN |
12 |
108,241,160 (GRCm39) |
missense |
unknown |
|
|
IGL03146:Ccdc85c
|
APN |
12 |
108,173,395 (GRCm39) |
nonsense |
probably null |
|
|
FR4304:Ccdc85c
|
UTSW |
12 |
108,240,871 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Ccdc85c
|
UTSW |
12 |
108,240,875 (GRCm39) |
small insertion |
probably benign |
|
|
R4685:Ccdc85c
|
UTSW |
12 |
108,173,434 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5048:Ccdc85c
|
UTSW |
12 |
108,187,966 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5516:Ccdc85c
|
UTSW |
12 |
108,174,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5588:Ccdc85c
|
UTSW |
12 |
108,177,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6054:Ccdc85c
|
UTSW |
12 |
108,241,028 (GRCm39) |
missense |
unknown |
|
|
R6318:Ccdc85c
|
UTSW |
12 |
108,240,968 (GRCm39) |
missense |
unknown |
|
|
R7094:Ccdc85c
|
UTSW |
12 |
108,240,877 (GRCm39) |
frame shift |
probably null |
|
|
R8167:Ccdc85c
|
UTSW |
12 |
108,240,759 (GRCm39) |
missense |
unknown |
|
|
R9101:Ccdc85c
|
UTSW |
12 |
108,240,917 (GRCm39) |
missense |
unknown |
|
|
RF008:Ccdc85c
|
UTSW |
12 |
108,240,887 (GRCm39) |
small insertion |
probably benign |
|
|
RF044:Ccdc85c
|
UTSW |
12 |
108,240,871 (GRCm39) |
small insertion |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation