Incidental Mutation 'R2216:Cep85'
| ID |
241142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep85
|
| Ensembl Gene |
ENSMUSG00000037443 |
| Gene Name |
centrosomal protein 85 |
| Synonyms |
Ccdc21, 2410030J07Rik |
| MMRRC Submission |
040218-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R2216 (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 133858741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 710
(H710R)
|
| 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: H712R
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
AA Change: H712R
| 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: H710R
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
AA Change: H710R
| 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: ENSMUST00000139616
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151407
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138144
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156323
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aipl1 |
G |
T |
11: 71,922,272 (GRCm39) |
P146T |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 83,924,559 (GRCm39) |
T423S |
probably damaging |
Het |
| Bend5 |
A |
G |
4: 111,305,787 (GRCm39) |
N277S |
probably null |
Het |
| Cd22 |
G |
T |
7: 30,566,471 (GRCm39) |
T816N |
probably damaging |
Het |
| Cep126 |
G |
A |
9: 8,120,679 (GRCm39) |
R115C |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,230,003 (GRCm39) |
L1695H |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,020,742 (GRCm39) |
V371A |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 17,077,355 (GRCm39) |
|
probably null |
Het |
| Cyp1a1 |
T |
A |
9: 57,609,352 (GRCm39) |
|
probably null |
Het |
| Dennd1c |
C |
T |
17: 57,381,492 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
G |
A |
18: 50,026,990 (GRCm39) |
V2033I |
probably benign |
Het |
| Dtna |
A |
G |
18: 23,702,622 (GRCm39) |
H51R |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,184,227 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,731,720 (GRCm39) |
V945E |
probably benign |
Het |
| Gpbar1 |
C |
G |
1: 74,318,053 (GRCm39) |
L99V |
probably damaging |
Het |
| Hdac9 |
A |
T |
12: 34,479,516 (GRCm39) |
D212E |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,133,565 (GRCm39) |
D448E |
probably benign |
Het |
| Itga2b |
T |
A |
11: 102,358,692 (GRCm39) |
N75I |
probably benign |
Het |
| Klra7 |
T |
C |
6: 130,205,549 (GRCm39) |
E117G |
probably benign |
Het |
| Kmt2b |
G |
A |
7: 30,273,490 (GRCm39) |
R2349C |
probably benign |
Het |
| Masp1 |
T |
C |
16: 23,310,805 (GRCm39) |
N209S |
probably benign |
Het |
| Mybpc2 |
C |
T |
7: 44,161,924 (GRCm39) |
|
probably null |
Het |
| Myh15 |
C |
G |
16: 48,986,201 (GRCm39) |
S1557* |
probably null |
Het |
| Myo3a |
A |
C |
2: 22,467,783 (GRCm39) |
T346P |
probably benign |
Het |
| Nim1k |
A |
G |
13: 120,175,751 (GRCm39) |
Y152H |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,802,077 (GRCm39) |
R507* |
probably null |
Het |
| Or13n4 |
T |
A |
7: 106,423,205 (GRCm39) |
H176L |
probably damaging |
Het |
| Or5e1 |
C |
T |
7: 108,354,819 (GRCm39) |
T252M |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,677,575 (GRCm39) |
I798V |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,614,816 (GRCm39) |
A212T |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,437,291 (GRCm39) |
H3522L |
probably damaging |
Het |
| Pram1 |
C |
T |
17: 33,860,258 (GRCm39) |
A275V |
probably benign |
Het |
| Pramel18 |
T |
A |
4: 101,767,257 (GRCm39) |
W169R |
probably damaging |
Het |
| Prkag1 |
A |
T |
15: 98,713,827 (GRCm39) |
M1K |
probably null |
Het |
| Prss52 |
T |
C |
14: 64,351,042 (GRCm39) |
S276P |
probably damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,431,125 (GRCm39) |
V284D |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,253,003 (GRCm39) |
D648G |
probably benign |
Het |
| Rnf112 |
A |
G |
11: 61,343,105 (GRCm39) |
L190P |
probably damaging |
Het |
| Scn5a |
G |
T |
9: 119,314,678 (GRCm39) |
P2010Q |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,342,151 (GRCm39) |
Y1138C |
probably benign |
Het |
| Slc4a9 |
A |
G |
18: 36,663,798 (GRCm39) |
H274R |
probably benign |
Het |
| Slc5a6 |
T |
G |
5: 31,196,679 (GRCm39) |
E391D |
possibly damaging |
Het |
| Speer2 |
T |
C |
16: 69,655,730 (GRCm39) |
Q32R |
possibly damaging |
Het |
| Tars1 |
A |
G |
15: 11,389,794 (GRCm39) |
V372A |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,337,267 (GRCm39) |
L1250Q |
possibly damaging |
Het |
| Tnnt3 |
A |
G |
7: 142,066,301 (GRCm39) |
Y222C |
probably benign |
Het |
| Trim40 |
T |
C |
17: 37,199,875 (GRCm39) |
I68V |
probably benign |
Het |
| Trp53tg5 |
T |
C |
2: 164,313,226 (GRCm39) |
I150V |
probably benign |
Het |
| Ube2u |
T |
C |
4: 100,389,365 (GRCm39) |
V109A |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,611,908 (GRCm39) |
D969E |
probably benign |
Het |
| Vil1 |
G |
T |
1: 74,464,838 (GRCm39) |
R495L |
probably benign |
Het |
| Wfs1 |
T |
A |
5: 37,124,564 (GRCm39) |
K700* |
probably null |
Het |
| Zcchc8 |
A |
G |
5: 123,845,466 (GRCm39) |
L298P |
probably damaging |
Het |
| Zfp946 |
A |
T |
17: 22,673,697 (GRCm39) |
Q150H |
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 |
|
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 |
|
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'- AGCTGAAGGCAGAACTCTCAG -3'
(R):5'- GCTTGTAGTAGAGACTTTACTATGTGC -3'
Sequencing Primer
(F):5'- AAGGAACCTTCTGGCGAGGC -3'
(R):5'- TACTATGTGCAAAGCCCTGG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation