Incidental Mutation 'R1577:Cep85'
ID |
171212 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep85
|
Ensembl Gene |
ENSMUSG00000037443 |
Gene Name |
centrosomal protein 85 |
Synonyms |
Ccdc21, 2410030J07Rik |
MMRRC Submission |
039615-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.943)
|
Stock # |
R1577 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
133857169-133914420 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 133879599 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 383
(E383G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113351
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040271]
[ENSMUST00000121566]
[ENSMUST00000137388]
|
AlphaFold |
Q8BMK0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040271
AA Change: E385G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039889 Gene: ENSMUSG00000037443 AA Change: E385G
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: E383G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113351 Gene: ENSMUSG00000037443 AA Change: E383G
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 benign
Transcript: ENSMUST00000137388
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141992
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145531
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.3%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
C |
1: 25,133,264 (GRCm39) |
N404S |
possibly damaging |
Het |
Chst4 |
A |
T |
8: 110,756,476 (GRCm39) |
H379Q |
probably benign |
Het |
Clca3b |
A |
T |
3: 144,529,280 (GRCm39) |
I798N |
probably damaging |
Het |
Cldnd1 |
T |
G |
16: 58,553,016 (GRCm39) |
L159R |
possibly damaging |
Het |
Cntnap3 |
T |
C |
13: 64,906,104 (GRCm39) |
E834G |
probably damaging |
Het |
Col2a1 |
C |
T |
15: 97,877,083 (GRCm39) |
R1065Q |
probably damaging |
Het |
Dchs1 |
T |
C |
7: 105,415,162 (GRCm39) |
D674G |
probably damaging |
Het |
Dntt |
A |
G |
19: 41,044,224 (GRCm39) |
Y463C |
probably damaging |
Het |
Egfr |
A |
G |
11: 16,819,241 (GRCm39) |
E257G |
probably benign |
Het |
Eif4b |
C |
T |
15: 101,998,336 (GRCm39) |
R339* |
probably null |
Het |
Fat1 |
C |
T |
8: 45,476,420 (GRCm39) |
T1822M |
probably benign |
Het |
Fgd3 |
T |
C |
13: 49,435,413 (GRCm39) |
N282D |
probably damaging |
Het |
Fmo4 |
T |
C |
1: 162,631,269 (GRCm39) |
M233V |
possibly damaging |
Het |
Gabbr2 |
T |
A |
4: 46,684,319 (GRCm39) |
M652L |
probably benign |
Het |
Gal3st2c |
G |
A |
1: 93,934,650 (GRCm39) |
V13M |
probably damaging |
Het |
Gapvd1 |
C |
T |
2: 34,599,240 (GRCm39) |
G686D |
probably damaging |
Het |
Gdap1l1 |
T |
G |
2: 163,280,524 (GRCm39) |
L20R |
probably damaging |
Het |
Gm5800 |
A |
T |
14: 51,952,016 (GRCm39) |
M82K |
probably benign |
Het |
Grm6 |
T |
A |
11: 50,753,972 (GRCm39) |
C759S |
probably damaging |
Het |
Hs3st1 |
A |
T |
5: 39,772,393 (GRCm39) |
D83E |
probably benign |
Het |
Il12rb1 |
A |
G |
8: 71,263,250 (GRCm39) |
D39G |
probably damaging |
Het |
Ldhb |
C |
A |
6: 142,438,324 (GRCm39) |
K244N |
possibly damaging |
Het |
Lypd6 |
C |
T |
2: 50,080,710 (GRCm39) |
R133* |
probably null |
Het |
Med13l |
G |
A |
5: 118,859,457 (GRCm39) |
G215S |
probably damaging |
Het |
Ncoa1 |
T |
C |
12: 4,345,196 (GRCm39) |
D606G |
probably damaging |
Het |
Noc2l |
C |
T |
4: 156,325,079 (GRCm39) |
T151M |
probably damaging |
Het |
Or10q3 |
T |
C |
19: 11,847,741 (GRCm39) |
T280A |
probably damaging |
Het |
Or2ag2 |
T |
C |
7: 106,485,217 (GRCm39) |
K269R |
probably benign |
Het |
Or2at4 |
T |
C |
7: 99,384,563 (GRCm39) |
L71P |
probably damaging |
Het |
Or2t26 |
T |
A |
11: 49,040,016 (GRCm39) |
C311S |
probably benign |
Het |
Or5aq1b |
T |
C |
2: 86,901,741 (GRCm39) |
T246A |
probably benign |
Het |
Ppm1l |
G |
A |
3: 69,460,403 (GRCm39) |
G327R |
probably damaging |
Het |
Rapgef5 |
C |
T |
12: 117,558,911 (GRCm39) |
A282V |
probably benign |
Het |
Rnf139 |
T |
C |
15: 58,771,367 (GRCm39) |
V464A |
probably damaging |
Het |
Rprd2 |
C |
T |
3: 95,672,047 (GRCm39) |
E1119K |
probably damaging |
Het |
Sipa1l2 |
G |
A |
8: 126,219,001 (GRCm39) |
T112I |
probably benign |
Het |
Skint6 |
T |
C |
4: 113,005,720 (GRCm39) |
T363A |
possibly damaging |
Het |
Slc22a16 |
G |
T |
10: 40,479,811 (GRCm39) |
E607* |
probably null |
Het |
Slc24a2 |
T |
C |
4: 86,909,648 (GRCm39) |
Y690C |
probably damaging |
Het |
Slc25a23 |
T |
C |
17: 57,354,306 (GRCm39) |
S115G |
probably benign |
Het |
Slc4a3 |
T |
C |
1: 75,527,535 (GRCm39) |
L168P |
probably damaging |
Het |
Spats2 |
T |
A |
15: 99,076,333 (GRCm39) |
I137N |
possibly damaging |
Het |
Stard4 |
A |
T |
18: 33,338,151 (GRCm39) |
V133D |
probably damaging |
Het |
Syn3 |
A |
G |
10: 86,284,728 (GRCm39) |
|
probably null |
Het |
Tfpi |
A |
G |
2: 84,263,447 (GRCm39) |
I305T |
probably damaging |
Het |
Tmtc1 |
T |
A |
6: 148,314,318 (GRCm39) |
|
probably null |
Het |
Tpcn1 |
A |
C |
5: 120,682,485 (GRCm39) |
W508G |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 38,030,974 (GRCm39) |
N406K |
possibly damaging |
Het |
Xrcc1 |
T |
A |
7: 24,265,052 (GRCm39) |
L118* |
probably null |
Het |
Zbtb5 |
T |
C |
4: 44,995,129 (GRCm39) |
Y85C |
probably damaging |
Het |
Zfand4 |
C |
A |
6: 116,306,373 (GRCm39) |
Y735* |
probably null |
Het |
Zfp180 |
G |
T |
7: 23,805,333 (GRCm39) |
C584F |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTCCGAATGCTTCTGTAGTGTCA -3'
(R):5'- AGGAAAGGGAGTCAACCTGAGTCTT -3'
Sequencing Primer
(F):5'- CACTTTTAGAGACTCCCTAATGAGC -3'
(R):5'- agccatctctccagccc -3'
|
Posted On |
2014-04-13 |