Incidental Mutation 'R8194:Cep85'
| ID |
635336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep85
|
| Ensembl Gene |
ENSMUSG00000037443 |
| Gene Name |
centrosomal protein 85 |
| Synonyms |
Ccdc21, 2410030J07Rik |
| MMRRC Submission |
067617-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R8194 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
133857169-133914420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 133861400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 627
(M627V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040271]
[ENSMUST00000121566]
|
| AlphaFold |
Q8BMK0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040271
AA Change: M627V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
AA Change: M627V
| 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 null
Transcript: ENSMUST00000121566
AA Change: M625V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
AA Change: M625V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
331 |
654 |
N/A |
INTRINSIC |
|
coiled coil region
|
723 |
747 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
100% (51/51) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4a |
T |
A |
12: 71,106,889 (GRCm39) |
Y320* |
probably null |
Het |
| Ash1l |
T |
A |
3: 88,960,062 (GRCm39) |
C2265S |
probably damaging |
Het |
| Atg4b |
T |
A |
1: 93,713,694 (GRCm39) |
C55* |
probably null |
Het |
| Cacna1s |
A |
T |
1: 136,005,430 (GRCm39) |
N405I |
probably benign |
Het |
| Capn11 |
A |
T |
17: 45,944,325 (GRCm39) |
D526E |
probably damaging |
Het |
| Ccdc188 |
A |
G |
16: 18,036,244 (GRCm39) |
R71G |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,618,220 (GRCm39) |
R772W |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,414,600 (GRCm39) |
E172D |
probably benign |
Het |
| Chd1 |
G |
A |
17: 17,594,737 (GRCm39) |
|
probably benign |
Het |
| Cnst |
A |
G |
1: 179,437,759 (GRCm39) |
H441R |
probably benign |
Het |
| Cyp2d11 |
G |
T |
15: 82,274,638 (GRCm39) |
T313N |
probably damaging |
Het |
| Cyp2g1 |
A |
G |
7: 26,514,159 (GRCm39) |
N255S |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,453,414 (GRCm39) |
D4395G |
probably damaging |
Het |
| Fam83h |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
15: 75,874,624 (GRCm39) |
|
probably benign |
Het |
| Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
| Gpsm1 |
CT |
CTT |
2: 26,217,364 (GRCm39) |
|
probably null |
Het |
| Lama4 |
A |
G |
10: 38,954,716 (GRCm39) |
S1090G |
probably damaging |
Het |
| Malrd1 |
A |
G |
2: 15,929,931 (GRCm39) |
D1479G |
unknown |
Het |
| Man2a2 |
T |
C |
7: 80,010,766 (GRCm39) |
K742E |
probably benign |
Het |
| Mapk8 |
A |
T |
14: 33,104,241 (GRCm39) |
S392T |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,559,117 (GRCm39) |
I53T |
probably damaging |
Het |
| Mcmdc2 |
A |
G |
1: 9,986,867 (GRCm39) |
I219V |
probably benign |
Het |
| Mlycd |
A |
T |
8: 120,134,332 (GRCm39) |
E278V |
probably benign |
Het |
| Muc2 |
G |
T |
7: 141,290,801 (GRCm39) |
C29F |
|
Het |
| Mup20 |
T |
C |
4: 61,971,721 (GRCm39) |
I77V |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,982,828 (GRCm39) |
E849G |
probably damaging |
Het |
| Nedd4 |
A |
G |
9: 72,593,389 (GRCm39) |
N154S |
probably damaging |
Het |
| Odad4 |
G |
A |
11: 100,454,502 (GRCm39) |
G429E |
probably benign |
Het |
| Or1e1f |
A |
T |
11: 73,856,240 (GRCm39) |
I269F |
probably benign |
Het |
| Pcdh7 |
A |
T |
5: 57,877,678 (GRCm39) |
N411I |
probably damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,285,886 (GRCm39) |
I183T |
possibly damaging |
Het |
| Prkar2a |
G |
A |
9: 108,569,710 (GRCm39) |
V19M |
probably damaging |
Het |
| Prss35 |
T |
G |
9: 86,637,666 (GRCm39) |
N145K |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,291,747 (GRCm39) |
D251E |
possibly damaging |
Het |
| Rnf169 |
C |
A |
7: 99,575,651 (GRCm39) |
V315F |
probably damaging |
Het |
| Slc32a1 |
T |
C |
2: 158,455,761 (GRCm39) |
Y139H |
probably damaging |
Het |
| Slc5a2 |
T |
C |
7: 127,870,328 (GRCm39) |
V522A |
probably benign |
Het |
| Slc6a6 |
A |
T |
6: 91,717,952 (GRCm39) |
Q297L |
probably damaging |
Het |
| Sos2 |
A |
C |
12: 69,645,598 (GRCm39) |
Y914D |
probably damaging |
Het |
| Spata1 |
G |
T |
3: 146,195,614 (GRCm39) |
T32N |
possibly damaging |
Het |
| Srcap |
C |
T |
7: 127,138,369 (GRCm39) |
R1180C |
probably damaging |
Het |
| St14 |
A |
T |
9: 31,042,921 (GRCm39) |
M1K |
probably null |
Het |
| Tcaf1 |
T |
C |
6: 42,652,236 (GRCm39) |
T749A |
probably benign |
Het |
| Tcp1 |
T |
C |
17: 13,141,621 (GRCm39) |
|
probably null |
Het |
| Tle6 |
A |
G |
10: 81,426,888 (GRCm39) |
V576A |
probably damaging |
Het |
| Usp17lc |
T |
A |
7: 103,067,407 (GRCm39) |
M234K |
probably benign |
Het |
| Washc4 |
A |
G |
10: 83,416,163 (GRCm39) |
I818V |
possibly damaging |
Het |
| Zdhhc18 |
A |
G |
4: 133,341,165 (GRCm39) |
L236P |
probably damaging |
Het |
| Zfp266 |
T |
C |
9: 20,411,610 (GRCm39) |
D189G |
probably benign |
Het |
| Zfp474 |
A |
T |
18: 52,772,229 (GRCm39) |
D294V |
probably damaging |
Het |
| Zfp568 |
T |
C |
7: 29,722,758 (GRCm39) |
F568L |
probably damaging |
Het |
| Zfp93 |
A |
G |
7: 23,975,479 (GRCm39) |
K488R |
probably benign |
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 |
|
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 |
|
|
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'- ATGGCCACTCTCAGACAAGC -3'
(R):5'- ATGGAATGTAGCGGCTCTCAG -3'
Sequencing Primer
(F):5'- ACTCTCAGACAAGCCTAGGG -3'
(R):5'- TCTCAGCCCTTAGAGCAGCTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation