Incidental Mutation 'R0587:Cep76'
ID |
55825 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep76
|
Ensembl Gene |
ENSMUSG00000073542 |
Gene Name |
centrosomal protein 76 |
Synonyms |
6230425F05Rik |
MMRRC Submission |
038777-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0587 (G1)
|
Quality Score |
198 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
67750870-67774406 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 67756245 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 529
(E529*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097542]
|
AlphaFold |
Q0VEJ0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000097542
AA Change: E529*
|
SMART Domains |
Protein: ENSMUSP00000095149 Gene: ENSMUSG00000073542 AA Change: E529*
Domain | Start | End | E-Value | Type |
Pfam:CEP76-C2
|
99 |
258 |
4.1e-64 |
PFAM |
low complexity region
|
383 |
393 |
N/A |
INTRINSIC |
low complexity region
|
553 |
564 |
N/A |
INTRINSIC |
Blast:KIND
|
604 |
654 |
2e-27 |
BLAST |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
Validation Efficiency |
94% (34/36) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310061I04Rik |
T |
C |
17: 36,203,855 (GRCm39) |
*212W |
probably null |
Het |
Abca1 |
A |
G |
4: 53,107,035 (GRCm39) |
Y231H |
probably benign |
Het |
Abca5 |
T |
G |
11: 110,202,203 (GRCm39) |
I401L |
probably benign |
Het |
Ak2 |
A |
G |
4: 128,896,171 (GRCm39) |
D112G |
probably damaging |
Het |
Ankrd60 |
T |
A |
2: 173,410,644 (GRCm39) |
D292V |
possibly damaging |
Het |
Bank1 |
A |
G |
3: 135,919,798 (GRCm39) |
|
probably benign |
Het |
Bod1l |
G |
A |
5: 41,978,980 (GRCm39) |
S778L |
probably benign |
Het |
Col24a1 |
T |
C |
3: 144,998,906 (GRCm39) |
V13A |
possibly damaging |
Het |
Ctsc |
T |
A |
7: 87,946,437 (GRCm39) |
H154Q |
probably benign |
Het |
Ctsf |
A |
G |
19: 4,905,766 (GRCm39) |
E87G |
probably benign |
Het |
Dmxl1 |
A |
T |
18: 50,068,374 (GRCm39) |
T2716S |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,212,382 (GRCm39) |
|
probably benign |
Het |
Fcsk |
T |
A |
8: 111,609,957 (GRCm39) |
Q1019L |
probably damaging |
Het |
Hnrnpul1 |
T |
A |
7: 25,444,657 (GRCm39) |
Y217F |
possibly damaging |
Het |
Kmt2a |
A |
T |
9: 44,758,831 (GRCm39) |
M1039K |
probably damaging |
Het |
Large1 |
T |
C |
8: 73,585,961 (GRCm39) |
N382D |
probably damaging |
Het |
Madd |
A |
G |
2: 90,977,230 (GRCm39) |
V1402A |
probably damaging |
Het |
Mlh3 |
C |
T |
12: 85,313,193 (GRCm39) |
V998M |
probably benign |
Het |
Myo1c |
A |
G |
11: 75,548,616 (GRCm39) |
Y71C |
probably damaging |
Het |
Myt1l |
G |
A |
12: 29,861,634 (GRCm39) |
D139N |
unknown |
Het |
Nes |
C |
A |
3: 87,885,876 (GRCm39) |
H1378Q |
probably benign |
Het |
Or4c12 |
T |
C |
2: 89,773,736 (GRCm39) |
H241R |
probably damaging |
Het |
Otud6b |
T |
C |
4: 14,815,661 (GRCm39) |
E243G |
probably benign |
Het |
Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
Pcm1 |
G |
T |
8: 41,739,088 (GRCm39) |
R912L |
probably damaging |
Het |
Piezo2 |
A |
G |
18: 63,155,497 (GRCm39) |
I2449T |
possibly damaging |
Het |
Slc12a5 |
G |
A |
2: 164,818,453 (GRCm39) |
M217I |
probably damaging |
Het |
Sorl1 |
C |
A |
9: 41,895,802 (GRCm39) |
W1784C |
probably damaging |
Het |
Spatc1l |
A |
G |
10: 76,400,011 (GRCm39) |
R178G |
possibly damaging |
Het |
Strada |
A |
C |
11: 106,061,790 (GRCm39) |
Y154D |
probably damaging |
Het |
Syt6 |
A |
G |
3: 103,532,887 (GRCm39) |
T424A |
probably damaging |
Het |
Tbx1 |
C |
T |
16: 18,402,243 (GRCm39) |
A245T |
possibly damaging |
Het |
Tmem143 |
T |
C |
7: 45,556,478 (GRCm39) |
L161P |
probably damaging |
Het |
|
Other mutations in Cep76 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01333:Cep76
|
APN |
18 |
67,773,187 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01344:Cep76
|
APN |
18 |
67,756,467 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02426:Cep76
|
APN |
18 |
67,767,987 (GRCm39) |
missense |
probably benign |
|
IGL02544:Cep76
|
APN |
18 |
67,768,020 (GRCm39) |
splice site |
probably benign |
|
IGL02711:Cep76
|
APN |
18 |
67,771,406 (GRCm39) |
missense |
probably benign |
|
IGL03283:Cep76
|
APN |
18 |
67,773,139 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0117:Cep76
|
UTSW |
18 |
67,759,744 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0450:Cep76
|
UTSW |
18 |
67,767,850 (GRCm39) |
missense |
probably benign |
0.30 |
R0469:Cep76
|
UTSW |
18 |
67,767,850 (GRCm39) |
missense |
probably benign |
0.30 |
R0658:Cep76
|
UTSW |
18 |
67,756,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R0667:Cep76
|
UTSW |
18 |
67,767,848 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1508:Cep76
|
UTSW |
18 |
67,756,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R1511:Cep76
|
UTSW |
18 |
67,758,028 (GRCm39) |
missense |
probably benign |
|
R4280:Cep76
|
UTSW |
18 |
67,773,229 (GRCm39) |
missense |
probably benign |
0.39 |
R4355:Cep76
|
UTSW |
18 |
67,759,710 (GRCm39) |
missense |
probably benign |
0.02 |
R4702:Cep76
|
UTSW |
18 |
67,767,968 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4847:Cep76
|
UTSW |
18 |
67,752,639 (GRCm39) |
missense |
probably benign |
0.04 |
R5650:Cep76
|
UTSW |
18 |
67,758,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R5897:Cep76
|
UTSW |
18 |
67,771,398 (GRCm39) |
missense |
probably benign |
0.00 |
R6648:Cep76
|
UTSW |
18 |
67,752,804 (GRCm39) |
missense |
probably benign |
0.27 |
R7193:Cep76
|
UTSW |
18 |
67,774,204 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7822:Cep76
|
UTSW |
18 |
67,774,219 (GRCm39) |
nonsense |
probably null |
|
R7846:Cep76
|
UTSW |
18 |
67,762,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R8870:Cep76
|
UTSW |
18 |
67,773,190 (GRCm39) |
missense |
probably benign |
0.02 |
R8883:Cep76
|
UTSW |
18 |
67,766,540 (GRCm39) |
missense |
probably benign |
0.02 |
R9025:Cep76
|
UTSW |
18 |
67,767,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R9221:Cep76
|
UTSW |
18 |
67,767,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGTCTCACAACTGTCTCATGGCTTC -3'
(R):5'- TGTCAGCCCTCAGATGCAGTAGAG -3'
Sequencing Primer
(F):5'- cccaggttcagttcccag -3'
(R):5'- GCAGTAGAGACCTGCATATTTG -3'
|
Posted On |
2013-07-11 |