Incidental Mutation 'IGL02004:Cep85'
| ID |
182221 |
| 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 # |
IGL02004
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
133857169-133914420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133894698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 36
(V36A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040271]
[ENSMUST00000121566]
[ENSMUST00000137388]
|
| AlphaFold |
Q8BMK0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040271
AA Change: V36A
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
AA Change: V36A
| 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: V36A
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
AA Change: V36A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
331 |
654 |
N/A |
INTRINSIC |
|
coiled coil region
|
723 |
747 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137388
AA Change: V36A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184419
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
G |
T |
11: 72,082,423 (GRCm39) |
A301E |
possibly damaging |
Het |
| C4b |
A |
T |
17: 34,957,984 (GRCm39) |
|
probably benign |
Het |
| Cnot10 |
A |
T |
9: 114,451,998 (GRCm39) |
F259L |
probably damaging |
Het |
| Crim1 |
T |
C |
17: 78,680,004 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
G |
A |
1: 17,817,744 (GRCm39) |
A216T |
probably damaging |
Het |
| Cyp8b1 |
T |
C |
9: 121,744,058 (GRCm39) |
I425V |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,173,666 (GRCm39) |
V2349D |
probably damaging |
Het |
| Fer |
G |
T |
17: 64,231,174 (GRCm39) |
|
probably null |
Het |
| Galnt3 |
T |
C |
2: 65,926,270 (GRCm39) |
T313A |
probably damaging |
Het |
| Hsd3b9 |
T |
A |
3: 98,363,735 (GRCm39) |
R37W |
probably damaging |
Het |
| Igkv10-94 |
A |
T |
6: 68,681,928 (GRCm39) |
L12* |
probably null |
Het |
| Kcnj3 |
G |
A |
2: 55,327,243 (GRCm39) |
D11N |
probably benign |
Het |
| Kit |
T |
A |
5: 75,781,674 (GRCm39) |
S368T |
probably benign |
Het |
| Mark1 |
G |
A |
1: 184,644,786 (GRCm39) |
S390L |
possibly damaging |
Het |
| Mpped1 |
C |
A |
15: 83,684,357 (GRCm39) |
S126R |
probably damaging |
Het |
| Myh15 |
A |
C |
16: 48,930,892 (GRCm39) |
|
probably benign |
Het |
| Nat1 |
G |
A |
8: 67,943,878 (GRCm39) |
E85K |
probably benign |
Het |
| Or9q1 |
T |
C |
19: 13,805,427 (GRCm39) |
D111G |
possibly damaging |
Het |
| Pde3b |
A |
T |
7: 114,118,852 (GRCm39) |
M664L |
possibly damaging |
Het |
| Phrf1 |
A |
G |
7: 140,840,246 (GRCm39) |
D1147G |
probably benign |
Het |
| Pth1r |
G |
T |
9: 110,571,376 (GRCm39) |
|
probably benign |
Het |
| Shank3 |
C |
T |
15: 89,387,502 (GRCm39) |
|
probably benign |
Het |
| Slc39a7 |
A |
C |
17: 34,250,095 (GRCm39) |
|
probably benign |
Het |
| Slc6a1 |
A |
G |
6: 114,291,286 (GRCm39) |
T520A |
probably benign |
Het |
| St3gal2 |
C |
A |
8: 111,696,804 (GRCm39) |
A317E |
probably damaging |
Het |
| St3gal3 |
C |
A |
4: 117,817,236 (GRCm39) |
L139F |
possibly damaging |
Het |
| Sval3 |
T |
A |
6: 41,949,776 (GRCm39) |
|
probably benign |
Het |
| Syvn1 |
G |
A |
19: 6,102,437 (GRCm39) |
A502T |
probably benign |
Het |
| Tm4sf1 |
T |
C |
3: 57,200,499 (GRCm39) |
I68V |
possibly damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,780,589 (GRCm39) |
N1326K |
possibly damaging |
Het |
| Tvp23b |
G |
A |
11: 62,782,826 (GRCm39) |
C174Y |
probably damaging |
Het |
| Zfp750 |
T |
C |
11: 121,402,975 (GRCm39) |
D591G |
probably benign |
Het |
|
| Other mutations in Cep85 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01113:Cep85
|
APN |
4 |
133,876,072 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation