Incidental Mutation 'R2031:Cep85'
| ID |
221211 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep85
|
| Ensembl Gene |
ENSMUSG00000037443 |
| Gene Name |
centrosomal protein 85 |
| Synonyms |
Ccdc21, 2410030J07Rik |
| MMRRC Submission |
040038-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R2031 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
133857169-133914420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133859761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 634
(V634A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030651]
[ENSMUST00000040271]
[ENSMUST00000070246]
[ENSMUST00000105879]
[ENSMUST00000121566]
|
| 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 |
probably benign
Transcript: ENSMUST00000040271
AA Change: V636A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
AA Change: V636A
| 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: ENSMUST00000105879
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121566
AA Change: V634A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
AA Change: V634A
| 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
|
| Meta Mutation Damage Score |
0.0597 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
98% (55/56) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
G |
T |
5: 121,639,118 (GRCm39) |
N642K |
possibly damaging |
Het |
| Akap11 |
T |
A |
14: 78,747,477 (GRCm39) |
I1637L |
possibly damaging |
Het |
| Aoc1l1 |
T |
C |
6: 48,952,789 (GRCm39) |
V238A |
probably damaging |
Het |
| Arhgap28 |
G |
T |
17: 68,203,111 (GRCm39) |
T114N |
probably damaging |
Het |
| Arid5b |
A |
G |
10: 68,114,518 (GRCm39) |
|
probably null |
Het |
| Atp10a |
T |
A |
7: 58,477,678 (GRCm39) |
C1292* |
probably null |
Het |
| Casp4 |
A |
G |
9: 5,321,401 (GRCm39) |
S51G |
probably benign |
Het |
| Cast |
T |
C |
13: 74,946,771 (GRCm39) |
|
probably null |
Het |
| Ccdc87 |
T |
C |
19: 4,891,715 (GRCm39) |
F736L |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,415,370 (GRCm39) |
S1203P |
probably damaging |
Het |
| Cep290 |
G |
A |
10: 100,348,262 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
C |
T |
19: 37,022,079 (GRCm39) |
R589H |
probably damaging |
Het |
| Crebrf |
T |
G |
17: 26,961,895 (GRCm39) |
S331A |
probably damaging |
Het |
| Cul5 |
A |
G |
9: 53,578,480 (GRCm39) |
V36A |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,618,297 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
G |
A |
1: 132,380,929 (GRCm39) |
A475T |
probably damaging |
Het |
| Enpp6 |
C |
A |
8: 47,506,649 (GRCm39) |
P151Q |
probably damaging |
Het |
| Fan1 |
A |
G |
7: 64,004,172 (GRCm39) |
Y765H |
probably damaging |
Het |
| Hsfy2 |
A |
T |
1: 56,675,476 (GRCm39) |
S354T |
probably benign |
Het |
| Ifi204 |
A |
C |
1: 173,580,343 (GRCm39) |
F389C |
probably damaging |
Het |
| Ikbip |
T |
C |
10: 90,932,474 (GRCm39) |
Y373H |
probably benign |
Het |
| Kbtbd11 |
C |
A |
8: 15,078,021 (GRCm39) |
P207T |
possibly damaging |
Het |
| Krt73 |
A |
C |
15: 101,707,199 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
T |
A |
1: 52,748,013 (GRCm39) |
Q284L |
probably benign |
Het |
| Mmp1b |
T |
A |
9: 7,368,607 (GRCm39) |
D415V |
possibly damaging |
Het |
| Mrc1 |
A |
T |
2: 14,326,584 (GRCm39) |
T1161S |
probably damaging |
Het |
| Ms4a18 |
A |
G |
19: 10,991,014 (GRCm39) |
S27P |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,426,028 (GRCm39) |
R2366S |
probably damaging |
Het |
| Nfkbia |
A |
G |
12: 55,537,937 (GRCm39) |
L172P |
probably damaging |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Or1d2 |
A |
G |
11: 74,255,777 (GRCm39) |
Y94C |
probably damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,341,105 (GRCm39) |
F12S |
probably damaging |
Het |
| Or4c107 |
A |
G |
2: 88,789,643 (GRCm39) |
T278A |
probably benign |
Het |
| Or51f1e |
A |
G |
7: 102,747,371 (GRCm39) |
Y141C |
probably damaging |
Het |
| Or5an10 |
A |
T |
19: 12,275,740 (GRCm39) |
V252D |
probably damaging |
Het |
| Or5b112 |
T |
C |
19: 13,319,770 (GRCm39) |
L216S |
probably benign |
Het |
| Parvb |
A |
T |
15: 84,167,036 (GRCm39) |
Y117F |
probably benign |
Het |
| Plch2 |
A |
G |
4: 155,127,484 (GRCm39) |
|
probably benign |
Het |
| Plxnb2 |
A |
T |
15: 89,047,013 (GRCm39) |
C769* |
probably null |
Het |
| Plxnc1 |
G |
T |
10: 94,779,529 (GRCm39) |
D304E |
probably benign |
Het |
| Prkg2 |
T |
C |
5: 99,172,310 (GRCm39) |
D135G |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,153,448 (GRCm39) |
D635G |
probably benign |
Het |
| Rapgef6 |
T |
G |
11: 54,443,684 (GRCm39) |
V89G |
probably benign |
Het |
| Ror2 |
T |
A |
13: 53,271,366 (GRCm39) |
T330S |
probably benign |
Het |
| Ros1 |
A |
G |
10: 51,943,164 (GRCm39) |
V2050A |
possibly damaging |
Het |
| Serpinb6e |
T |
C |
13: 34,021,733 (GRCm39) |
|
probably benign |
Het |
| Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
| Smarca4 |
T |
C |
9: 21,597,358 (GRCm39) |
V1371A |
possibly damaging |
Het |
| Syvn1 |
G |
A |
19: 6,100,560 (GRCm39) |
R317H |
probably damaging |
Het |
| Tdo2 |
T |
A |
3: 81,876,812 (GRCm39) |
D139V |
probably damaging |
Het |
| Tmem130 |
A |
G |
5: 144,689,236 (GRCm39) |
V135A |
possibly damaging |
Het |
| Tpr |
A |
T |
1: 150,317,870 (GRCm39) |
Q2126L |
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,706,062 (GRCm39) |
M324V |
possibly damaging |
Het |
| Ubxn10 |
A |
G |
4: 138,448,574 (GRCm39) |
M34T |
possibly damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,659,717 (GRCm39) |
W154R |
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 |
|
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'- TCTGGGTCACAATGCTGCAG -3'
(R):5'- TCAGTGCTGGATCCCTAAGG -3'
Sequencing Primer
(F):5'- CTGCAGACAGCTTGCAGATCTTG -3'
(R):5'- TACACACAGGAGGAGCTAGCATTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation