Incidental Mutation 'R1276:Cep63'
| ID |
150894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep63
|
| Ensembl Gene |
ENSMUSG00000032534 |
| Gene Name |
centrosomal protein 63 |
| Synonyms |
D9Mgc41, D9Mgc48e, ET2, CD20R |
| MMRRC Submission |
039342-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.648)
|
| Stock # |
R1276 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
102461787-102503733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102466099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 642
(D642E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093791]
[ENSMUST00000162655]
[ENSMUST00000216281]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093791
AA Change: D642E
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000091306
Gene: ENSMUSG00000032534
AA Change: D642E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
25 |
N/A |
INTRINSIC |
|
Pfam:CEP63
|
76 |
338 |
8.1e-112 |
PFAM |
|
coiled coil region
|
401 |
469 |
N/A |
INTRINSIC |
|
coiled coil region
|
492 |
591 |
N/A |
INTRINSIC |
|
low complexity region
|
651 |
663 |
N/A |
INTRINSIC |
|
low complexity region
|
705 |
716 |
N/A |
INTRINSIC |
|
coiled coil region
|
730 |
749 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162655
|
| SMART Domains |
Protein: ENSMUSP00000125621
Gene: ENSMUSG00000032534
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
72 |
220 |
N/A |
INTRINSIC |
|
coiled coil region
|
243 |
283 |
N/A |
INTRINSIC |
|
coiled coil region
|
343 |
411 |
N/A |
INTRINSIC |
|
coiled coil region
|
434 |
484 |
N/A |
INTRINSIC |
|
coiled coil region
|
510 |
529 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191074
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192240
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216281
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a subunit of the centrosome, the main microtubule-organizing center of the cell. The encoded protein associates with another centrosomal protein, CEP152, to regulate mother-centriole-dependent centriole duplication in dividing cells. Disruption of a similar gene in human has been associated with primary microcephaly (MCPH). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth defects, microcephaly, thin cerebral cortex, mitotic defects and cell death in neural progenitors, decreased oocyte number, small testis, and severely impaired spermatogenesis and meiotic recombination leading to male infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
C |
A |
8: 27,609,852 (GRCm39) |
A660D |
probably damaging |
Het |
| Ccdc82 |
A |
T |
9: 13,281,903 (GRCm39) |
I443F |
probably benign |
Het |
| Cct4 |
C |
T |
11: 22,952,171 (GRCm39) |
L391F |
probably damaging |
Het |
| Chd5 |
T |
A |
4: 152,463,191 (GRCm39) |
L1424Q |
probably damaging |
Het |
| Cox4i1 |
A |
G |
8: 121,400,089 (GRCm39) |
Y71C |
probably damaging |
Het |
| Cyp2c69 |
T |
A |
19: 39,864,668 (GRCm39) |
Q270L |
possibly damaging |
Het |
| Egln2 |
TTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTG |
7: 26,864,430 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
A |
G |
15: 85,113,791 (GRCm39) |
D175G |
probably damaging |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Gm9847 |
A |
G |
12: 14,544,932 (GRCm39) |
|
noncoding transcript |
Het |
| Hdlbp |
A |
T |
1: 93,348,823 (GRCm39) |
S576T |
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,298,576 (GRCm39) |
N296S |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,571,833 (GRCm39) |
V2379E |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,618,588 (GRCm39) |
I162N |
probably benign |
Het |
| Mydgf |
A |
G |
17: 56,486,362 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2a |
T |
C |
19: 47,256,822 (GRCm39) |
D632G |
probably benign |
Het |
| Ska3 |
T |
C |
14: 58,057,726 (GRCm39) |
M209V |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,080,787 (GRCm39) |
E308G |
probably damaging |
Het |
| Srsf4 |
C |
T |
4: 131,624,996 (GRCm39) |
T131M |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,685,025 (GRCm39) |
S156T |
probably benign |
Het |
| Svs5 |
T |
A |
2: 164,079,168 (GRCm39) |
Q246H |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 75,987,963 (GRCm39) |
|
probably null |
Het |
| Tbc1d9b |
T |
A |
11: 50,043,476 (GRCm39) |
H532Q |
possibly damaging |
Het |
| Tcf21 |
G |
A |
10: 22,695,489 (GRCm39) |
T105I |
probably damaging |
Het |
| Thsd7a |
C |
A |
6: 12,418,369 (GRCm39) |
C620F |
probably damaging |
Het |
| Vmn1r194 |
A |
G |
13: 22,429,031 (GRCm39) |
Y216C |
probably damaging |
Het |
| Vmn2r94 |
T |
C |
17: 18,477,344 (GRCm39) |
S356G |
possibly damaging |
Het |
| Wasf1 |
T |
A |
10: 40,812,522 (GRCm39) |
I437N |
unknown |
Het |
| Wdr24 |
A |
G |
17: 26,046,441 (GRCm39) |
Y538C |
probably benign |
Het |
| Zbtb4 |
G |
T |
11: 69,667,045 (GRCm39) |
D117Y |
probably damaging |
Het |
| Zfp654 |
A |
T |
16: 64,605,699 (GRCm39) |
F293L |
probably damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,719,788 (GRCm39) |
E158G |
probably damaging |
Het |
|
| Other mutations in Cep63 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01598:Cep63
|
APN |
9 |
102,467,657 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02378:Cep63
|
APN |
9 |
102,473,314 (GRCm39) |
splice site |
probably benign |
|
|
IGL02707:Cep63
|
APN |
9 |
102,464,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03273:Cep63
|
APN |
9 |
102,479,666 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0355:Cep63
|
UTSW |
9 |
102,500,759 (GRCm39) |
missense |
probably benign |
|
|
R0847:Cep63
|
UTSW |
9 |
102,465,957 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1398:Cep63
|
UTSW |
9 |
102,480,285 (GRCm39) |
splice site |
probably benign |
|
|
R1654:Cep63
|
UTSW |
9 |
102,464,112 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1730:Cep63
|
UTSW |
9 |
102,496,066 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1982:Cep63
|
UTSW |
9 |
102,480,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2359:Cep63
|
UTSW |
9 |
102,471,763 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2890:Cep63
|
UTSW |
9 |
102,496,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3082:Cep63
|
UTSW |
9 |
102,479,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4725:Cep63
|
UTSW |
9 |
102,467,755 (GRCm39) |
intron |
probably benign |
|
|
R4761:Cep63
|
UTSW |
9 |
102,464,240 (GRCm39) |
intron |
probably benign |
|
|
R5200:Cep63
|
UTSW |
9 |
102,475,387 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5538:Cep63
|
UTSW |
9 |
102,465,992 (GRCm39) |
nonsense |
probably null |
|
|
R6463:Cep63
|
UTSW |
9 |
102,473,354 (GRCm39) |
missense |
probably benign |
|
|
R6887:Cep63
|
UTSW |
9 |
102,503,126 (GRCm39) |
intron |
probably benign |
|
|
R7854:Cep63
|
UTSW |
9 |
102,480,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8206:Cep63
|
UTSW |
9 |
102,498,470 (GRCm39) |
intron |
probably benign |
|
|
R8465:Cep63
|
UTSW |
9 |
102,490,576 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9015:Cep63
|
UTSW |
9 |
102,496,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9063:Cep63
|
UTSW |
9 |
102,496,227 (GRCm39) |
missense |
unknown |
|
|
R9327:Cep63
|
UTSW |
9 |
102,467,723 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9463:Cep63
|
UTSW |
9 |
102,475,382 (GRCm39) |
missense |
probably benign |
|
|
R9542:Cep63
|
UTSW |
9 |
102,484,533 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGGTTGAATGTGCCTTCACAAGC -3'
(R):5'- AGCAGTAGAGTCCTGTCGCATAGC -3'
Sequencing Primer
(F):5'- CCGAAGATACAAACTCTTCTTGGTC -3'
(R):5'- TGTCGCATAGCCTCTTATGAAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation