Incidental Mutation 'IGL01522:Cep85'
| ID |
89441 |
| 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 # |
IGL01522
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
133857169-133914420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 133879566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 394
(Q394R)
|
| 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: Q396R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
AA Change: Q396R
| 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: Q394R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
AA Change: Q394R
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
T |
C |
15: 11,065,245 (GRCm39) |
|
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,850,802 (GRCm39) |
N579S |
probably benign |
Het |
| Akr1c19 |
A |
G |
13: 4,289,098 (GRCm39) |
|
probably benign |
Het |
| Ankrd39 |
T |
A |
1: 36,581,142 (GRCm39) |
H69L |
probably damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,085,186 (GRCm39) |
M461K |
possibly damaging |
Het |
| Bpifa3 |
G |
A |
2: 153,979,502 (GRCm39) |
C209Y |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,957,989 (GRCm39) |
E779G |
probably benign |
Het |
| Clcn6 |
T |
C |
4: 148,101,992 (GRCm39) |
Y364C |
probably benign |
Het |
| Fetub |
G |
A |
16: 22,748,391 (GRCm39) |
M1I |
probably null |
Het |
| Greb1 |
T |
C |
12: 16,751,202 (GRCm39) |
I1003V |
probably damaging |
Het |
| Hsf3 |
A |
G |
X: 95,364,200 (GRCm39) |
|
probably benign |
Het |
| Jcad |
A |
G |
18: 4,673,312 (GRCm39) |
N358S |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,493,888 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,059,769 (GRCm39) |
|
probably benign |
Het |
| Mark2 |
A |
G |
19: 7,258,603 (GRCm39) |
V50A |
probably benign |
Het |
| Mmp7 |
T |
C |
9: 7,692,229 (GRCm39) |
W35R |
probably damaging |
Het |
| Ndc80 |
A |
G |
17: 71,806,320 (GRCm39) |
V578A |
probably benign |
Het |
| Nfyc |
T |
C |
4: 120,638,721 (GRCm39) |
E42G |
probably damaging |
Het |
| Or1j15 |
A |
G |
2: 36,459,233 (GRCm39) |
T208A |
probably benign |
Het |
| Or52b4 |
A |
T |
7: 102,184,391 (GRCm39) |
I146F |
probably damaging |
Het |
| Or5d37 |
T |
C |
2: 87,923,360 (GRCm39) |
K307E |
possibly damaging |
Het |
| Or8g21 |
A |
T |
9: 38,906,396 (GRCm39) |
C112S |
probably benign |
Het |
| Or9i16 |
A |
T |
19: 13,864,722 (GRCm39) |
L284* |
probably null |
Het |
| Pcdha11 |
T |
C |
18: 37,318,061 (GRCm39) |
F925L |
probably damaging |
Het |
| Pdcd1 |
T |
G |
1: 93,968,571 (GRCm39) |
R154S |
probably benign |
Het |
| Pepd |
T |
A |
7: 34,623,865 (GRCm39) |
D87E |
probably benign |
Het |
| Pfn4 |
A |
G |
12: 4,820,240 (GRCm39) |
T30A |
probably benign |
Het |
| Pgpep1l |
A |
G |
7: 67,887,456 (GRCm39) |
M48T |
possibly damaging |
Het |
| Pla2g15 |
A |
G |
8: 106,889,748 (GRCm39) |
N340S |
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,844,547 (GRCm39) |
D155G |
probably damaging |
Het |
| Plg |
G |
A |
17: 12,622,956 (GRCm39) |
G499S |
probably damaging |
Het |
| Plin3 |
C |
T |
17: 56,587,799 (GRCm39) |
W305* |
probably null |
Het |
| Polq |
C |
A |
16: 36,848,265 (GRCm39) |
L291I |
probably damaging |
Het |
| Sanbr |
A |
G |
11: 23,532,865 (GRCm39) |
|
probably null |
Het |
| Sdf2l1 |
T |
A |
16: 16,950,014 (GRCm39) |
H54L |
probably damaging |
Het |
| Slc38a2 |
C |
T |
15: 96,590,936 (GRCm39) |
D276N |
possibly damaging |
Het |
| Syk |
A |
G |
13: 52,797,097 (GRCm39) |
T576A |
probably benign |
Het |
| Tas2r119 |
G |
A |
15: 32,178,339 (GRCm39) |
V302I |
probably benign |
Het |
| Uso1 |
T |
C |
5: 92,329,278 (GRCm39) |
F389L |
probably damaging |
Het |
| Wwc2 |
T |
A |
8: 48,321,668 (GRCm39) |
Y482F |
unknown |
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 |
|
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 |
2013-12-03 |
Incidental Mutation