Incidental Mutation 'R7854:Cep63'
| ID |
607136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep63
|
| Ensembl Gene |
ENSMUSG00000032534 |
| Gene Name |
centrosomal protein 63 |
| Synonyms |
D9Mgc41, D9Mgc48e, ET2, CD20R |
| MMRRC Submission |
045907-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.648)
|
| Stock # |
R7854 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
102461787-102503733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102480197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 269
(S269R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093791]
[ENSMUST00000162655]
[ENSMUST00000213636]
[ENSMUST00000216281]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093791
AA Change: S269R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091306
Gene: ENSMUSG00000032534
AA Change: S269R
| 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 damaging
Transcript: ENSMUST00000162655
AA Change: S211R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125621
Gene: ENSMUSG00000032534
AA Change: S211R
| 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 |
probably damaging
Transcript: ENSMUST00000213636
AA Change: S120R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215253
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216281
AA Change: S269R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.1458 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (51/52) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
A |
13: 81,741,207 (GRCm39) |
I86F |
probably damaging |
Het |
| Als2cl |
A |
G |
9: 110,727,564 (GRCm39) |
*953W |
probably null |
Het |
| Ap1g2 |
A |
G |
14: 55,343,390 (GRCm39) |
F66L |
probably damaging |
Het |
| Aqp12 |
T |
G |
1: 92,934,176 (GRCm39) |
C18G |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,490,523 (GRCm39) |
I826V |
probably benign |
Het |
| C1ra |
A |
G |
6: 124,494,700 (GRCm39) |
Q321R |
probably benign |
Het |
| Calcoco1 |
T |
C |
15: 102,627,991 (GRCm39) |
I48V |
possibly damaging |
Het |
| Chchd7 |
T |
C |
4: 3,943,422 (GRCm39) |
V63A |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,969,964 (GRCm39) |
D163G |
probably benign |
Het |
| Dpep2 |
T |
C |
8: 106,716,160 (GRCm39) |
D251G |
|
Het |
| Ercc6 |
T |
C |
14: 32,288,249 (GRCm39) |
L807P |
probably damaging |
Het |
| Fads6 |
A |
T |
11: 115,188,222 (GRCm39) |
D27E |
probably benign |
Het |
| Gfer |
C |
A |
17: 24,913,259 (GRCm39) |
D198Y |
probably damaging |
Het |
| Glce |
A |
T |
9: 61,977,773 (GRCm39) |
I37N |
probably benign |
Het |
| Gps2 |
T |
C |
11: 69,806,030 (GRCm39) |
L128P |
probably damaging |
Het |
| Gramd2b |
A |
G |
18: 56,611,926 (GRCm39) |
T130A |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,467,631 (GRCm39) |
Y2527N |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,364,330 (GRCm39) |
D820G |
probably damaging |
Het |
| Itsn2 |
T |
C |
12: 4,751,276 (GRCm39) |
Y1289H |
probably damaging |
Het |
| Kcnh6 |
A |
T |
11: 105,908,172 (GRCm39) |
I263F |
probably damaging |
Het |
| Kcns2 |
A |
T |
15: 34,839,917 (GRCm39) |
M427L |
probably benign |
Het |
| Mptx1 |
A |
T |
1: 174,159,966 (GRCm39) |
M91L |
probably benign |
Het |
| Ms4a20 |
T |
A |
19: 11,089,741 (GRCm39) |
Y48F |
probably benign |
Het |
| Mtx2 |
A |
G |
2: 74,699,231 (GRCm39) |
Y128C |
probably damaging |
Het |
| Myh9 |
A |
T |
15: 77,675,953 (GRCm39) |
D244E |
probably benign |
Het |
| Ndufs2 |
T |
C |
1: 171,066,938 (GRCm39) |
D140G |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,981,538 (GRCm39) |
T1827A |
probably benign |
Het |
| Ogn |
A |
T |
13: 49,774,514 (GRCm39) |
Y219F |
possibly damaging |
Het |
| Or1ak2 |
A |
G |
2: 36,828,036 (GRCm39) |
R302G |
probably benign |
Het |
| Or51f2 |
C |
T |
7: 102,526,992 (GRCm39) |
R222* |
probably null |
Het |
| Parp4 |
A |
G |
14: 56,896,805 (GRCm39) |
E1943G |
unknown |
Het |
| Pex19 |
T |
G |
1: 171,954,417 (GRCm39) |
|
probably null |
Het |
| Prss53 |
T |
C |
7: 127,488,117 (GRCm39) |
N166S |
probably benign |
Het |
| Prx |
T |
A |
7: 27,216,066 (GRCm39) |
V328E |
probably damaging |
Het |
| Pstpip2 |
C |
T |
18: 77,962,004 (GRCm39) |
T258I |
probably benign |
Het |
| Rasgrp4 |
C |
T |
7: 28,850,035 (GRCm39) |
P58L |
unknown |
Het |
| Ros1 |
T |
C |
10: 52,004,563 (GRCm39) |
Y1019C |
probably damaging |
Het |
| Rptor |
T |
C |
11: 119,748,779 (GRCm39) |
M787T |
probably benign |
Het |
| Rsf1 |
GGCGGCGGCGGC |
GGCGGCGGCGGCGGCGGCGGCAGCGGCAGCGGCGGCGGC |
7: 97,229,131 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
T |
A |
15: 9,596,730 (GRCm39) |
R1440W |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,046,396 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
T |
C |
7: 27,061,835 (GRCm39) |
I2335V |
probably benign |
Het |
| Srp68 |
G |
C |
11: 116,144,909 (GRCm39) |
|
probably null |
Het |
| Taar1 |
A |
G |
10: 23,796,680 (GRCm39) |
D126G |
probably benign |
Het |
| Tdrd9 |
A |
G |
12: 112,013,395 (GRCm39) |
T1210A |
probably benign |
Het |
| Tle5 |
A |
G |
10: 81,401,481 (GRCm39) |
H183R |
probably damaging |
Het |
| Tpcn1 |
A |
G |
5: 120,687,653 (GRCm39) |
F364L |
probably damaging |
Het |
| Trav2 |
A |
T |
14: 52,805,238 (GRCm39) |
K20* |
probably null |
Het |
| Trpa1 |
T |
C |
1: 14,951,918 (GRCm39) |
E927G |
probably benign |
Het |
| Tyk2 |
A |
T |
9: 21,026,776 (GRCm39) |
D637E |
probably benign |
Het |
| Vmn1r200 |
T |
C |
13: 22,580,009 (GRCm39) |
F271L |
probably benign |
Het |
| Vmn1r231 |
T |
A |
17: 21,110,894 (GRCm39) |
D7V |
probably damaging |
Het |
| Wwc2 |
G |
A |
8: 48,321,512 (GRCm39) |
T534I |
unknown |
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 |
|
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 |
|
|
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'- CCTAGTCCTAGGGCATGCATATACC -3'
(R):5'- TGTCCAAAACCTGCTGATAGCC -3'
Sequencing Primer
(F):5'- TAGGGCATGCATATACCTCCCTAAG -3'
(R):5'- CCAGCCTTCCTAGGAGTGAATC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation