Incidental Mutation 'IGL02317:Cep85'
| ID |
288064 |
| 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: 0.949)
|
| Stock # |
IGL02317
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
133857169-133914420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 133883122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 256
(G256R)
|
| 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: G256R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
AA Change: G256R
| 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: G256R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
AA Change: G256R
| 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 |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019M22Rik |
T |
C |
12: 96,013,780 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl2fm3 |
A |
G |
3: 59,784,408 (GRCm39) |
N294D |
probably benign |
Het |
| Aak1 |
C |
T |
6: 86,933,282 (GRCm39) |
P418S |
possibly damaging |
Het |
| Abca5 |
T |
A |
11: 110,218,587 (GRCm39) |
Q93L |
probably benign |
Het |
| Arhgap22 |
G |
T |
14: 33,081,230 (GRCm39) |
V209L |
probably damaging |
Het |
| Atp6v1h |
G |
T |
1: 5,154,693 (GRCm39) |
R7L |
possibly damaging |
Het |
| Ccdc86 |
T |
C |
19: 10,920,556 (GRCm39) |
Q420R |
possibly damaging |
Het |
| Csmd2 |
T |
C |
4: 128,357,520 (GRCm39) |
|
probably benign |
Het |
| Dck |
T |
C |
5: 88,921,942 (GRCm39) |
Y135H |
probably damaging |
Het |
| Dicer1 |
T |
C |
12: 104,663,279 (GRCm39) |
E1434G |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,334,244 (GRCm39) |
T4824I |
probably damaging |
Het |
| Fam20c |
G |
A |
5: 138,792,115 (GRCm39) |
R404H |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,478,855 (GRCm39) |
A2611T |
probably benign |
Het |
| Fbxl13 |
C |
T |
5: 21,727,232 (GRCm39) |
C555Y |
probably benign |
Het |
| Gprc6a |
C |
A |
10: 51,497,049 (GRCm39) |
R323L |
probably benign |
Het |
| Grik2 |
A |
G |
10: 49,298,711 (GRCm39) |
F50L |
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,450,332 (GRCm39) |
Y50C |
probably damaging |
Het |
| Il16 |
T |
A |
7: 83,316,097 (GRCm39) |
H437L |
probably damaging |
Het |
| Irf9 |
G |
A |
14: 55,845,196 (GRCm39) |
R352H |
probably damaging |
Het |
| Jph1 |
T |
C |
1: 17,074,147 (GRCm39) |
T624A |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,833,112 (GRCm39) |
Y1574C |
probably damaging |
Het |
| Lrrc26 |
A |
G |
2: 25,180,314 (GRCm39) |
N105S |
probably damaging |
Het |
| Megf8 |
C |
A |
7: 25,063,213 (GRCm39) |
T2523K |
probably damaging |
Het |
| Nckap1l |
A |
G |
15: 103,370,005 (GRCm39) |
I135V |
probably benign |
Het |
| Oma1 |
A |
G |
4: 103,176,234 (GRCm39) |
|
probably benign |
Het |
| Opa1 |
T |
G |
16: 29,433,984 (GRCm39) |
|
probably null |
Het |
| Or13j1 |
T |
C |
4: 43,706,172 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or5m3b |
T |
C |
2: 85,871,913 (GRCm39) |
S85P |
probably damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Rab11b |
C |
T |
17: 33,968,790 (GRCm39) |
A43T |
probably damaging |
Het |
| Rabl2 |
A |
T |
15: 89,468,492 (GRCm39) |
N133K |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,467,621 (GRCm39) |
V840I |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,865,854 (GRCm39) |
S1001P |
probably damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,415,985 (GRCm39) |
E896G |
probably benign |
Het |
| Ube2o |
T |
C |
11: 116,432,389 (GRCm39) |
E859G |
probably damaging |
Het |
| Vmn1r197 |
A |
G |
13: 22,512,073 (GRCm39) |
|
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,486,765 (GRCm39) |
I710T |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,662,492 (GRCm39) |
T533A |
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 |
|
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 |
2015-04-16 |
Incidental Mutation