Incidental Mutation 'R0060:Cep85'
| ID |
17159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep85
|
| Ensembl Gene |
ENSMUSG00000037443 |
| Gene Name |
centrosomal protein 85 |
| Synonyms |
Ccdc21, 2410030J07Rik |
| MMRRC Submission |
038353-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R0060 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
133857169-133914420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 133894611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 65
(D65G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040271]
[ENSMUST00000121566]
[ENSMUST00000137388]
|
| AlphaFold |
Q8BMK0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040271
AA Change: D65G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
AA Change: D65G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
333 |
656 |
N/A |
INTRINSIC |
|
coiled coil region
|
725 |
749 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121566
AA Change: D65G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
AA Change: D65G
| 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: D65G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184419
|
| Meta Mutation Damage Score |
0.4394 |
| Coding Region Coverage |
- 1x: 90.4%
- 3x: 88.3%
- 10x: 83.8%
- 20x: 78.1%
|
| Validation Efficiency |
94% (74/79) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
A |
C |
11: 58,313,008 (GRCm39) |
|
probably benign |
Het |
| 4930432E11Rik |
A |
G |
7: 29,273,595 (GRCm39) |
|
noncoding transcript |
Het |
| A630091E08Rik |
A |
G |
7: 98,192,875 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8a |
T |
C |
11: 109,961,306 (GRCm39) |
T539A |
probably damaging |
Het |
| Adam34 |
A |
T |
8: 44,128,920 (GRCm39) |
|
probably benign |
Het |
| Ankrd60 |
A |
T |
2: 173,414,406 (GRCm39) |
M1K |
probably null |
Het |
| Cald1 |
T |
C |
6: 34,692,394 (GRCm39) |
|
probably benign |
Het |
| Capn7 |
T |
C |
14: 31,087,561 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
G |
A |
9: 78,610,389 (GRCm39) |
E1145K |
probably damaging |
Het |
| Celsr1 |
A |
T |
15: 85,806,399 (GRCm39) |
V2353D |
probably damaging |
Het |
| Cep135 |
A |
T |
5: 76,769,197 (GRCm39) |
I616F |
probably benign |
Het |
| Cep162 |
T |
A |
9: 87,119,878 (GRCm39) |
|
probably benign |
Het |
| Cep350 |
C |
T |
1: 155,804,372 (GRCm39) |
D904N |
probably damaging |
Het |
| Cfdp1 |
T |
C |
8: 112,566,986 (GRCm39) |
|
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,688,019 (GRCm39) |
|
probably benign |
Het |
| Colec10 |
G |
A |
15: 54,302,542 (GRCm39) |
|
probably benign |
Het |
| Crxos |
A |
G |
7: 15,632,448 (GRCm39) |
T40A |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,317,721 (GRCm39) |
D472G |
probably damaging |
Het |
| Dpp6 |
C |
A |
5: 27,803,817 (GRCm39) |
N254K |
probably damaging |
Het |
| Eps8l3 |
T |
C |
3: 107,786,857 (GRCm39) |
L11S |
probably damaging |
Het |
| Flad1 |
G |
A |
3: 89,309,552 (GRCm39) |
R515* |
probably null |
Het |
| Fzd5 |
T |
C |
1: 64,774,835 (GRCm39) |
T309A |
probably benign |
Het |
| Gm19685 |
T |
C |
17: 61,075,418 (GRCm39) |
|
|
Het |
| Gsdme |
A |
G |
6: 50,198,009 (GRCm39) |
I317T |
possibly damaging |
Het |
| H2bc1 |
A |
T |
13: 24,117,928 (GRCm39) |
I71N |
possibly damaging |
Het |
| Incenp |
A |
G |
19: 9,862,823 (GRCm39) |
|
probably benign |
Het |
| Itgad |
T |
C |
7: 127,802,158 (GRCm39) |
S979P |
probably damaging |
Het |
| Kat2b |
T |
C |
17: 53,961,571 (GRCm39) |
V557A |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,117,614 (GRCm39) |
|
probably benign |
Het |
| Lgi4 |
G |
A |
7: 30,762,996 (GRCm39) |
G157D |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,791,442 (GRCm39) |
|
probably null |
Het |
| Nubpl |
T |
C |
12: 52,357,470 (GRCm39) |
|
probably benign |
Het |
| Or2b4 |
T |
C |
17: 38,116,891 (GRCm39) |
L285P |
probably damaging |
Het |
| Or5be3 |
T |
C |
2: 86,864,118 (GRCm39) |
Y149C |
probably damaging |
Het |
| Or8c20 |
C |
T |
9: 38,260,808 (GRCm39) |
S143F |
probably benign |
Het |
| Peak1 |
A |
T |
9: 56,135,107 (GRCm39) |
I78K |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 16,981,097 (GRCm39) |
F85I |
probably damaging |
Het |
| Rbm11 |
G |
T |
16: 75,395,667 (GRCm39) |
D113Y |
probably damaging |
Het |
| Rif1 |
C |
T |
2: 52,001,129 (GRCm39) |
R1528C |
probably damaging |
Het |
| Sema4d |
A |
G |
13: 51,859,293 (GRCm39) |
|
probably benign |
Het |
| Slc30a4 |
T |
A |
2: 122,527,104 (GRCm39) |
T381S |
probably benign |
Het |
| Slf2 |
G |
T |
19: 44,936,443 (GRCm39) |
G696V |
probably damaging |
Het |
| Suv39h2 |
T |
C |
2: 3,465,953 (GRCm39) |
Y134C |
probably damaging |
Het |
| Tmem273 |
C |
A |
14: 32,528,726 (GRCm39) |
|
probably benign |
Het |
| Tmem89 |
T |
A |
9: 108,744,485 (GRCm39) |
V126D |
probably damaging |
Het |
| Trf |
T |
C |
9: 103,098,121 (GRCm39) |
T46A |
probably benign |
Het |
| Trmt6 |
C |
T |
2: 132,648,689 (GRCm39) |
R415Q |
possibly damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,035,006 (GRCm39) |
K1625E |
probably damaging |
Het |
| Usp6nl |
T |
A |
2: 6,445,701 (GRCm39) |
D559E |
probably benign |
Het |
| Wdr75 |
A |
G |
1: 45,855,777 (GRCm39) |
D476G |
probably benign |
Het |
| Wrap53 |
A |
C |
11: 69,454,256 (GRCm39) |
L261V |
possibly damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,964,420 (GRCm39) |
I292N |
possibly damaging |
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 |
|
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 |
|
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 |
2013-01-20 |
Incidental Mutation