Incidental Mutation 'IGL01113:Cep85'
ID |
50920 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cep85
|
Ensembl Gene |
ENSMUSG00000037443 |
Gene Name |
centrosomal protein 85 |
Synonyms |
Ccdc21, 2410030J07Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.943)
|
Stock # |
IGL01113
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
133857169-133914420 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 133876072 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 445
(V445I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113351
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040271]
[ENSMUST00000121566]
|
AlphaFold |
Q8BMK0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040271
AA Change: V447I
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000039889 Gene: ENSMUSG00000037443 AA Change: V447I
Domain | Start | End | E-Value | Type |
coiled coil region
|
333 |
656 |
N/A |
INTRINSIC |
coiled coil region
|
725 |
749 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121566
AA Change: V445I
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000113351 Gene: ENSMUSG00000037443 AA Change: V445I
Domain | Start | End | E-Value | Type |
coiled coil region
|
331 |
654 |
N/A |
INTRINSIC |
coiled coil region
|
723 |
747 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141992
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the centrosome-associated family of proteins. The centrosome is a subcellular organelle in the animal cell that functions as a microtubule organizing center and is involved in cell-cycle progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544L04Rik |
A |
G |
7: 134,998,871 (GRCm39) |
|
noncoding transcript |
Het |
Adam34l |
T |
C |
8: 44,079,189 (GRCm39) |
H345R |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,637,147 (GRCm39) |
F3431L |
probably benign |
Het |
Adk |
A |
G |
14: 21,142,461 (GRCm39) |
N21S |
probably damaging |
Het |
Cacna2d3 |
A |
G |
14: 29,022,688 (GRCm39) |
|
probably benign |
Het |
Camk2d |
C |
A |
3: 126,574,061 (GRCm39) |
A156E |
probably damaging |
Het |
Ccdc171 |
G |
T |
4: 83,580,047 (GRCm39) |
W598L |
probably damaging |
Het |
Cftr |
A |
G |
6: 18,270,252 (GRCm39) |
Y814C |
probably damaging |
Het |
Dctn1 |
T |
C |
6: 83,156,879 (GRCm39) |
S9P |
probably benign |
Het |
Dmxl1 |
A |
G |
18: 50,045,818 (GRCm39) |
K2409R |
probably benign |
Het |
Dnaaf1 |
T |
A |
8: 120,309,317 (GRCm39) |
I135N |
probably damaging |
Het |
Eif3d |
G |
A |
15: 77,847,515 (GRCm39) |
T241M |
probably damaging |
Het |
Etv1 |
T |
C |
12: 38,831,791 (GRCm39) |
|
probably benign |
Het |
Gdpd3 |
C |
A |
7: 126,366,997 (GRCm39) |
S182R |
probably benign |
Het |
Gm12888 |
C |
A |
4: 121,175,521 (GRCm39) |
C87F |
probably damaging |
Het |
Gml |
C |
A |
15: 74,685,576 (GRCm39) |
M136I |
probably benign |
Het |
Habp2 |
A |
G |
19: 56,298,548 (GRCm39) |
T137A |
probably benign |
Het |
Igkv6-25 |
C |
T |
6: 70,192,772 (GRCm39) |
P60S |
possibly damaging |
Het |
Mak |
A |
T |
13: 41,195,619 (GRCm39) |
W396R |
probably damaging |
Het |
Mast4 |
C |
A |
13: 102,910,744 (GRCm39) |
C441F |
probably damaging |
Het |
Medag |
T |
C |
5: 149,353,372 (GRCm39) |
I189T |
probably benign |
Het |
Myh1 |
A |
G |
11: 67,093,006 (GRCm39) |
T71A |
probably benign |
Het |
Nin |
G |
T |
12: 70,078,553 (GRCm39) |
L1678M |
probably damaging |
Het |
Nol6 |
T |
C |
4: 41,115,749 (GRCm39) |
D1081G |
probably damaging |
Het |
Or1j4 |
A |
T |
2: 36,740,631 (GRCm39) |
D191V |
probably damaging |
Het |
Or6f1 |
A |
T |
7: 85,970,361 (GRCm39) |
D266E |
probably benign |
Het |
Ppp1r10 |
T |
A |
17: 36,240,451 (GRCm39) |
N580K |
probably damaging |
Het |
Rpgrip1l |
T |
C |
8: 91,987,367 (GRCm39) |
|
probably benign |
Het |
Serpinb3a |
G |
A |
1: 106,978,789 (GRCm39) |
Q57* |
probably null |
Het |
Thumpd3 |
T |
C |
6: 113,037,021 (GRCm39) |
S307P |
probably benign |
Het |
Upf1 |
A |
C |
8: 70,790,934 (GRCm39) |
D577E |
probably benign |
Het |
Vmn2r99 |
T |
C |
17: 19,614,518 (GRCm39) |
V746A |
probably benign |
Het |
Wscd2 |
T |
C |
5: 113,708,800 (GRCm39) |
V268A |
probably damaging |
Het |
|
Other mutations in Cep85 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01397:Cep85
|
APN |
4 |
133,883,517 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01472:Cep85
|
APN |
4 |
133,861,477 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL01522:Cep85
|
APN |
4 |
133,879,567 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01522:Cep85
|
APN |
4 |
133,879,566 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02004:Cep85
|
APN |
4 |
133,894,698 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02043:Cep85
|
APN |
4 |
133,883,038 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02187:Cep85
|
APN |
4 |
133,858,616 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02317:Cep85
|
APN |
4 |
133,883,122 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02543:Cep85
|
APN |
4 |
133,883,634 (GRCm39) |
missense |
possibly damaging |
0.52 |
1mM(1):Cep85
|
UTSW |
4 |
133,883,575 (GRCm39) |
missense |
possibly damaging |
0.88 |
PIT4468001:Cep85
|
UTSW |
4 |
133,876,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R0060:Cep85
|
UTSW |
4 |
133,894,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R0068:Cep85
|
UTSW |
4 |
133,881,606 (GRCm39) |
missense |
probably benign |
0.00 |
R0346:Cep85
|
UTSW |
4 |
133,859,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R0462:Cep85
|
UTSW |
4 |
133,858,732 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1295:Cep85
|
UTSW |
4 |
133,894,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R1296:Cep85
|
UTSW |
4 |
133,894,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R1472:Cep85
|
UTSW |
4 |
133,894,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R1577:Cep85
|
UTSW |
4 |
133,879,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R1681:Cep85
|
UTSW |
4 |
133,876,039 (GRCm39) |
nonsense |
probably null |
|
R1687:Cep85
|
UTSW |
4 |
133,875,324 (GRCm39) |
missense |
probably benign |
0.00 |
R2031:Cep85
|
UTSW |
4 |
133,859,761 (GRCm39) |
missense |
probably benign |
0.00 |
R2216:Cep85
|
UTSW |
4 |
133,858,741 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2220:Cep85
|
UTSW |
4 |
133,881,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R4321:Cep85
|
UTSW |
4 |
133,859,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R4888:Cep85
|
UTSW |
4 |
133,892,062 (GRCm39) |
intron |
probably benign |
|
R5044:Cep85
|
UTSW |
4 |
133,883,490 (GRCm39) |
missense |
probably damaging |
0.97 |
R5075:Cep85
|
UTSW |
4 |
133,859,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R5627:Cep85
|
UTSW |
4 |
133,861,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R6841:Cep85
|
UTSW |
4 |
133,883,167 (GRCm39) |
missense |
probably benign |
|
R6842:Cep85
|
UTSW |
4 |
133,883,167 (GRCm39) |
missense |
probably benign |
|
R6843:Cep85
|
UTSW |
4 |
133,883,167 (GRCm39) |
missense |
probably benign |
|
R6981:Cep85
|
UTSW |
4 |
133,879,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R7252:Cep85
|
UTSW |
4 |
133,875,342 (GRCm39) |
missense |
probably benign |
0.12 |
R7869:Cep85
|
UTSW |
4 |
133,859,609 (GRCm39) |
missense |
probably damaging |
0.99 |
R8057:Cep85
|
UTSW |
4 |
133,880,925 (GRCm39) |
unclassified |
probably benign |
|
R8194:Cep85
|
UTSW |
4 |
133,861,400 (GRCm39) |
missense |
probably null |
0.00 |
R8733:Cep85
|
UTSW |
4 |
133,875,472 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8928:Cep85
|
UTSW |
4 |
133,859,715 (GRCm39) |
missense |
probably benign |
0.00 |
R9430:Cep85
|
UTSW |
4 |
133,894,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R9550:Cep85
|
UTSW |
4 |
133,858,598 (GRCm39) |
missense |
probably damaging |
1.00 |
V8831:Cep85
|
UTSW |
4 |
133,883,380 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Posted On |
2013-06-21 |