Incidental Mutation 'R5075:Cep85'
| ID |
386918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep85
|
| Ensembl Gene |
ENSMUSG00000037443 |
| Gene Name |
centrosomal protein 85 |
| Synonyms |
Ccdc21, 2410030J07Rik |
| MMRRC Submission |
042664-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R5075 (G1)
|
| Quality Score |
206 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
133857169-133914420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 133859678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 662
(D662Y)
|
| 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 damaging
Transcript: ENSMUST00000040271
AA Change: D664Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
AA Change: D664Y
| 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 damaging
Transcript: ENSMUST00000121566
AA Change: D662Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
AA Change: D662Y
| 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 |
0.0715 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.3%
|
| Validation Efficiency |
100% (57/57) |
| 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 |
|---|
| Agl |
A |
G |
3: 116,587,456 (GRCm39) |
F33S |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,537,232 (GRCm39) |
D163G |
probably benign |
Het |
| Cntn6 |
T |
A |
6: 104,809,991 (GRCm39) |
S558T |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,958,731 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 31,019,505 (GRCm39) |
N3859K |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dnajc21 |
G |
T |
15: 10,461,963 (GRCm39) |
T146K |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,833,351 (GRCm39) |
E1957G |
unknown |
Het |
| Esm1 |
A |
G |
13: 113,349,892 (GRCm39) |
Y104C |
probably damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,239,266 (GRCm39) |
K613R |
probably damaging |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,808,387 (GRCm39) |
|
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,923,842 (GRCm39) |
S223P |
probably benign |
Het |
| Hypk |
A |
G |
2: 121,286,111 (GRCm39) |
|
probably benign |
Het |
| Kpna1 |
T |
A |
16: 35,829,722 (GRCm39) |
F70I |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,296,102 (GRCm39) |
Y3336H |
probably benign |
Het |
| Mier1 |
A |
G |
4: 102,996,670 (GRCm39) |
D99G |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,754,794 (GRCm38) |
|
probably benign |
Het |
| Nup160 |
A |
G |
2: 90,530,518 (GRCm39) |
E463G |
probably damaging |
Het |
| Or5b121 |
T |
A |
19: 13,507,637 (GRCm39) |
M244K |
probably benign |
Het |
| Peg3 |
A |
T |
7: 6,711,419 (GRCm39) |
C1268S |
probably damaging |
Het |
| Recql4 |
G |
A |
15: 76,593,744 (GRCm39) |
P122L |
probably damaging |
Het |
| Rex2 |
A |
T |
4: 147,142,151 (GRCm39) |
Q213L |
possibly damaging |
Het |
| Rnf25 |
A |
G |
1: 74,634,803 (GRCm39) |
V73A |
probably benign |
Het |
| Sacm1l |
A |
G |
9: 123,411,327 (GRCm39) |
D372G |
probably benign |
Het |
| Selplg |
T |
C |
5: 113,958,045 (GRCm39) |
D87G |
probably benign |
Het |
| Sgsh |
G |
A |
11: 119,237,594 (GRCm39) |
T340M |
probably benign |
Het |
| Slc4a3 |
A |
T |
1: 75,534,012 (GRCm39) |
I1120F |
probably damaging |
Het |
| Snrnp40 |
T |
C |
4: 130,282,375 (GRCm39) |
Y311H |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,722,133 (GRCm39) |
K1016E |
probably damaging |
Het |
| Stard7 |
A |
T |
2: 127,111,879 (GRCm39) |
|
probably benign |
Het |
| Stat1 |
A |
T |
1: 52,161,871 (GRCm39) |
K40M |
possibly damaging |
Het |
| Sun1 |
T |
C |
5: 139,212,646 (GRCm39) |
|
probably null |
Het |
| Tet2 |
T |
A |
3: 133,192,667 (GRCm39) |
Q589L |
probably benign |
Het |
| Tmc7 |
A |
T |
7: 118,151,919 (GRCm39) |
|
probably null |
Het |
| Tmt1b |
A |
G |
10: 128,796,549 (GRCm39) |
F87L |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 103,041,213 (GRCm39) |
I749F |
possibly damaging |
Het |
| Ust |
A |
G |
10: 8,393,988 (GRCm39) |
F59S |
probably damaging |
Het |
| Wdr81 |
A |
T |
11: 75,343,307 (GRCm39) |
D653E |
probably benign |
Het |
| Zfat |
A |
G |
15: 68,052,079 (GRCm39) |
S572P |
probably benign |
Het |
| Zmynd15 |
G |
C |
11: 70,352,946 (GRCm39) |
E143D |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,749,170 (GRCm39) |
E886G |
probably 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 |
|
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 |
|
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'- CACACGAGAAGATGGAGACCTTC -3'
(R):5'- TGGAGAACATGGCACCAAGC -3'
Sequencing Primer
(F):5'- GATGGAGACCTTCTGATGACTCAC -3'
(R):5'- AGAGACATTGTCTGGGGCTCC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation