Incidental Mutation 'R2359:Cep63'
| ID |
247074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep63
|
| Ensembl Gene |
ENSMUSG00000032534 |
| Gene Name |
centrosomal protein 63 |
| Synonyms |
D9Mgc41, D9Mgc48e, ET2, CD20R |
| MMRRC Submission |
040341-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.648)
|
| Stock # |
R2359 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
102461787-102503733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 102471763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 526
(L526V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093791]
[ENSMUST00000162655]
[ENSMUST00000216281]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093791
AA Change: L526V
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000091306
Gene: ENSMUSG00000032534
AA Change: L526V
| 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 |
noncoding transcript
Transcript: ENSMUST00000160512
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162655
AA Change: L468V
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125621
Gene: ENSMUSG00000032534
AA Change: L468V
| 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 |
possibly damaging
Transcript: ENSMUST00000216281
AA Change: L526V
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.0810 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
95% (41/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
G |
8: 41,133,984 (GRCm39) |
E484G |
possibly damaging |
Het |
| Akr1c20 |
C |
T |
13: 4,573,276 (GRCm39) |
G13D |
probably damaging |
Het |
| Alkbh3 |
T |
C |
2: 93,838,458 (GRCm39) |
T38A |
probably benign |
Het |
| Anxa9 |
A |
C |
3: 95,210,062 (GRCm39) |
L99R |
probably damaging |
Het |
| Arfgef2 |
A |
T |
2: 166,702,539 (GRCm39) |
Y826F |
probably damaging |
Het |
| Arid2 |
G |
T |
15: 96,259,759 (GRCm39) |
L306F |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 77,000,746 (GRCm39) |
V29M |
probably damaging |
Het |
| Cd55b |
A |
G |
1: 130,345,858 (GRCm39) |
S187P |
probably damaging |
Het |
| Chtf8 |
G |
T |
8: 107,612,048 (GRCm39) |
|
probably null |
Het |
| Clca4b |
T |
A |
3: 144,631,003 (GRCm39) |
S286C |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,481,873 (GRCm39) |
V1080A |
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,176,976 (GRCm39) |
V165I |
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,766,398 (GRCm39) |
V399E |
probably damaging |
Het |
| Dnmt3a |
T |
C |
12: 3,951,599 (GRCm39) |
S659P |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,630,106 (GRCm39) |
S967P |
possibly damaging |
Het |
| Efr3b |
G |
A |
12: 4,030,136 (GRCm39) |
|
probably benign |
Het |
| Epha8 |
A |
G |
4: 136,673,343 (GRCm39) |
I147T |
probably damaging |
Het |
| Fbxo48 |
G |
A |
11: 16,903,602 (GRCm39) |
W76* |
probably null |
Het |
| Ggt6 |
A |
T |
11: 72,328,377 (GRCm39) |
L254F |
possibly damaging |
Het |
| Gm4204 |
T |
A |
1: 135,159,927 (GRCm39) |
|
noncoding transcript |
Het |
| Golph3l |
A |
G |
3: 95,499,275 (GRCm39) |
|
probably null |
Het |
| Gtf2h3 |
A |
G |
5: 124,728,939 (GRCm39) |
K166R |
probably damaging |
Het |
| Hsp90aa1 |
A |
G |
12: 110,661,003 (GRCm39) |
|
probably null |
Het |
| Hyi |
A |
G |
4: 118,217,538 (GRCm39) |
R79G |
probably benign |
Het |
| Igbp1b |
G |
A |
6: 138,634,713 (GRCm39) |
P244S |
probably damaging |
Het |
| Ipo8 |
G |
A |
6: 148,717,975 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
C |
A |
13: 9,208,199 (GRCm39) |
T391K |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,256,057 (GRCm39) |
V1133A |
probably benign |
Het |
| Med13 |
C |
T |
11: 86,181,861 (GRCm39) |
|
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,156,379 (GRCm39) |
|
probably benign |
Het |
| Neurl1b |
T |
C |
17: 26,660,569 (GRCm39) |
F299L |
probably benign |
Het |
| Nosip |
G |
A |
7: 44,723,450 (GRCm39) |
A39T |
possibly damaging |
Het |
| Nsd1 |
A |
G |
13: 55,361,524 (GRCm39) |
D164G |
possibly damaging |
Het |
| Ntn1 |
G |
A |
11: 68,276,438 (GRCm39) |
T170M |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,572,396 (GRCm39) |
L1079Q |
probably damaging |
Het |
| Prxl2c |
A |
T |
13: 64,460,465 (GRCm39) |
C12S |
probably benign |
Het |
| Rab30 |
A |
G |
7: 92,485,005 (GRCm39) |
D129G |
possibly damaging |
Het |
| Rwdd2b |
C |
T |
16: 87,233,809 (GRCm39) |
S97N |
probably benign |
Het |
| Slitrk3 |
T |
G |
3: 72,956,678 (GRCm39) |
D698A |
possibly damaging |
Het |
| Smarcd2 |
T |
C |
11: 106,157,990 (GRCm39) |
M93V |
probably benign |
Het |
| Tmprss4 |
A |
G |
9: 45,097,130 (GRCm39) |
V45A |
probably benign |
Het |
| Vmn1r22 |
A |
T |
6: 57,877,974 (GRCm39) |
M1K |
probably null |
Het |
| Vps13a |
A |
G |
19: 16,630,043 (GRCm39) |
|
probably benign |
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 |
|
R1276:Cep63
|
UTSW |
9 |
102,466,099 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
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 |
|
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'- ACCTGGACCTCATTTGTGAC -3'
(R):5'- CACACTTGTGCTCTCATGTG -3'
Sequencing Primer
(F):5'- GTGACTGTATCTCCTAAGGGAC -3'
(R):5'- GTGCTCTCATGTGTATGCAAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation