Incidental Mutation 'IGL02187:Cep85'
| ID |
283698 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep85
|
| Ensembl Gene |
ENSMUSG00000037443 |
| Gene Name |
centrosomal protein 85 |
| Synonyms |
2410030J07Rik, Ccdc21 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
IGL02187
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
134129858-134187112 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 134131305 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 752
(M752L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030651]
[ENSMUST00000040271]
[ENSMUST00000070246]
[ENSMUST00000074690]
[ENSMUST00000105879]
[ENSMUST00000121566]
[ENSMUST00000151113]
|
| AlphaFold |
Q8BMK0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030651
|
| SMART Domains |
Protein: ENSMUSP00000030651
Gene: ENSMUSG00000028843
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SH3BGR
|
2 |
93 |
6.3e-40 |
PFAM |
|
Pfam:Glutaredoxin
|
22 |
70 |
9.2e-11 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040271
AA Change: M754L
PolyPhen 2
Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
AA Change: M754L
| 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 benign
Transcript: ENSMUST00000070246
|
| SMART Domains |
Protein: ENSMUSP00000064030
Gene: ENSMUSG00000012126
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SEP
|
114 |
185 |
1.5e-20 |
PFAM |
|
UBX
|
268 |
350 |
2.3e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074690
|
| SMART Domains |
Protein: ENSMUSP00000074255
Gene: ENSMUSG00000012126
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
69 |
147 |
N/A |
INTRINSIC |
|
Pfam:SEP
|
232 |
303 |
7.9e-20 |
PFAM |
|
UBX
|
386 |
468 |
2.3e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105879
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121566
AA Change: M752L
PolyPhen 2
Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
AA Change: M752L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
331 |
654 |
N/A |
INTRINSIC |
|
coiled coil region
|
723 |
747 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138144
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139616
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151113
|
| SMART Domains |
Protein: ENSMUSP00000122892
Gene: ENSMUSG00000012126
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SEP
|
15 |
64 |
2e-13 |
BLAST |
|
SCOP:d1i42a_
|
129 |
173 |
4e-5 |
SMART |
|
Blast:UBX
|
135 |
174 |
1e-20 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151407
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
C |
A |
8: 113,713,194 (GRCm38) |
E922D |
possibly damaging |
Het |
| Asxl3 |
T |
A |
18: 22,524,978 (GRCm38) |
M2015K |
probably damaging |
Het |
| C8a |
C |
A |
4: 104,862,736 (GRCm38) |
R15L |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,721,366 (GRCm38) |
V47A |
probably benign |
Het |
| Ccdc84 |
C |
T |
9: 44,410,787 (GRCm38) |
|
probably benign |
Het |
| Cdhr2 |
C |
T |
13: 54,733,710 (GRCm38) |
T1081I |
possibly damaging |
Het |
| Cxcr3 |
T |
A |
X: 101,732,877 (GRCm38) |
S60C |
probably damaging |
Het |
| Cyp24a1 |
T |
A |
2: 170,494,093 (GRCm38) |
N208I |
probably damaging |
Het |
| Cyp2c38 |
A |
G |
19: 39,436,205 (GRCm38) |
I223T |
probably benign |
Het |
| Dennd6a |
A |
G |
14: 26,606,926 (GRCm38) |
I35V |
probably benign |
Het |
| Emb |
T |
G |
13: 117,268,971 (GRCm38) |
|
probably benign |
Het |
| Fbxo3 |
T |
C |
2: 104,027,950 (GRCm38) |
Y30H |
probably damaging |
Het |
| Fnbp1l |
G |
A |
3: 122,568,800 (GRCm38) |
R120* |
probably null |
Het |
| Galnt2 |
T |
C |
8: 124,305,506 (GRCm38) |
|
probably benign |
Het |
| Gckr |
T |
C |
5: 31,307,424 (GRCm38) |
|
probably benign |
Het |
| Gpr101 |
A |
G |
X: 57,501,481 (GRCm38) |
F103S |
probably damaging |
Het |
| Gprasp1 |
T |
A |
X: 135,799,163 (GRCm38) |
V35E |
probably damaging |
Het |
| Ift80 |
C |
A |
3: 68,985,456 (GRCm38) |
W133L |
probably damaging |
Het |
| Impdh1 |
C |
A |
6: 29,207,087 (GRCm38) |
|
probably benign |
Het |
| Ino80 |
T |
C |
2: 119,445,457 (GRCm38) |
|
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,378,831 (GRCm38) |
|
probably null |
Het |
| Klhl20 |
C |
T |
1: 161,109,710 (GRCm38) |
V32I |
probably benign |
Het |
| Lrfn3 |
A |
G |
7: 30,355,964 (GRCm38) |
S519P |
probably damaging |
Het |
| Mrpl51 |
A |
G |
6: 125,193,331 (GRCm38) |
N100S |
probably benign |
Het |
| Mybpc3 |
T |
C |
2: 91,135,452 (GRCm38) |
I1203T |
probably benign |
Het |
| Nbr1 |
A |
G |
11: 101,569,359 (GRCm38) |
I394V |
possibly damaging |
Het |
| Nfasc |
G |
A |
1: 132,570,481 (GRCm38) |
T1155M |
probably damaging |
Het |
| Olfr854 |
T |
A |
9: 19,567,097 (GRCm38) |
T96S |
probably benign |
Het |
| Pan3 |
T |
C |
5: 147,526,588 (GRCm38) |
I440T |
probably benign |
Het |
| Patz1 |
T |
C |
11: 3,291,134 (GRCm38) |
L174P |
probably damaging |
Het |
| Paxx |
A |
G |
2: 25,460,656 (GRCm38) |
L62P |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,072,818 (GRCm38) |
S972P |
probably damaging |
Het |
| Ppp1r13b |
G |
T |
12: 111,835,038 (GRCm38) |
T404K |
probably damaging |
Het |
| Prkaa2 |
T |
C |
4: 105,047,166 (GRCm38) |
N238S |
probably benign |
Het |
| Prpf6 |
T |
C |
2: 181,616,016 (GRCm38) |
Y94H |
probably damaging |
Het |
| Rtn4 |
T |
C |
11: 29,708,291 (GRCm38) |
I815T |
possibly damaging |
Het |
| Slc44a5 |
A |
G |
3: 154,262,917 (GRCm38) |
T582A |
probably benign |
Het |
| Slitrk3 |
A |
G |
3: 73,050,272 (GRCm38) |
L389S |
probably damaging |
Het |
| Srp54b |
T |
A |
12: 55,252,775 (GRCm38) |
M297K |
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,396,810 (GRCm38) |
R265* |
probably null |
Het |
| Zmym4 |
T |
A |
4: 126,870,273 (GRCm38) |
I1325L |
probably damaging |
Het |
| Zswim2 |
C |
A |
2: 83,923,638 (GRCm38) |
R226L |
probably damaging |
Het |
|
| Other mutations in Cep85 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01113:Cep85
|
APN |
4 |
134,148,761 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
IGL01397:Cep85
|
APN |
4 |
134,156,206 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01472:Cep85
|
APN |
4 |
134,134,166 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
IGL01522:Cep85
|
APN |
4 |
134,152,256 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01522:Cep85
|
APN |
4 |
134,152,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02004:Cep85
|
APN |
4 |
134,167,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02043:Cep85
|
APN |
4 |
134,155,727 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02317:Cep85
|
APN |
4 |
134,155,811 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02543:Cep85
|
APN |
4 |
134,156,323 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
1mM(1):Cep85
|
UTSW |
4 |
134,156,264 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
PIT4468001:Cep85
|
UTSW |
4 |
134,148,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0060:Cep85
|
UTSW |
4 |
134,167,300 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0068:Cep85
|
UTSW |
4 |
134,154,295 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0346:Cep85
|
UTSW |
4 |
134,132,422 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0462:Cep85
|
UTSW |
4 |
134,131,421 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1295:Cep85
|
UTSW |
4 |
134,167,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1296:Cep85
|
UTSW |
4 |
134,167,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1472:Cep85
|
UTSW |
4 |
134,167,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1577:Cep85
|
UTSW |
4 |
134,152,288 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1681:Cep85
|
UTSW |
4 |
134,148,728 (GRCm38) |
nonsense |
probably null |
|
|
R1687:Cep85
|
UTSW |
4 |
134,148,013 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2031:Cep85
|
UTSW |
4 |
134,132,450 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2216:Cep85
|
UTSW |
4 |
134,131,430 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R2220:Cep85
|
UTSW |
4 |
134,153,867 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4321:Cep85
|
UTSW |
4 |
134,132,285 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4888:Cep85
|
UTSW |
4 |
134,164,751 (GRCm38) |
intron |
probably benign |
|
|
R5044:Cep85
|
UTSW |
4 |
134,156,179 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5075:Cep85
|
UTSW |
4 |
134,132,367 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5627:Cep85
|
UTSW |
4 |
134,134,097 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6841:Cep85
|
UTSW |
4 |
134,155,856 (GRCm38) |
missense |
probably benign |
|
|
R6842:Cep85
|
UTSW |
4 |
134,155,856 (GRCm38) |
missense |
probably benign |
|
|
R6843:Cep85
|
UTSW |
4 |
134,155,856 (GRCm38) |
missense |
probably benign |
|
|
R6981:Cep85
|
UTSW |
4 |
134,152,261 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7252:Cep85
|
UTSW |
4 |
134,148,031 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7869:Cep85
|
UTSW |
4 |
134,132,298 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8057:Cep85
|
UTSW |
4 |
134,153,614 (GRCm38) |
unclassified |
probably benign |
|
|
R8194:Cep85
|
UTSW |
4 |
134,134,089 (GRCm38) |
missense |
probably null |
0.00 |
|
R8733:Cep85
|
UTSW |
4 |
134,148,161 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8928:Cep85
|
UTSW |
4 |
134,132,404 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9430:Cep85
|
UTSW |
4 |
134,167,354 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9550:Cep85
|
UTSW |
4 |
134,131,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
V8831:Cep85
|
UTSW |
4 |
134,156,069 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2015-04-16 |
Incidental Mutation