Incidental Mutation 'IGL01333:Cep76'
| ID |
74555 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep76
|
| Ensembl Gene |
ENSMUSG00000073542 |
| Gene Name |
centrosomal protein 76 |
| Synonyms |
6230425F05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
67750870-67774406 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 67773187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 37
(R37Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025418]
[ENSMUST00000097542]
|
| AlphaFold |
Q0VEJ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025418
|
| SMART Domains |
Protein: ENSMUSP00000025418
Gene: ENSMUSG00000024537
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAC2
|
17 |
230 |
3.8e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097542
AA Change: R37Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000095149
Gene: ENSMUSG00000073542
AA Change: R37Q
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
G |
T |
7: 119,981,531 (GRCm39) |
C995F |
probably damaging |
Het |
| Adamts7 |
G |
T |
9: 90,069,032 (GRCm39) |
G525C |
probably damaging |
Het |
| Akap1 |
T |
C |
11: 88,736,431 (GRCm39) |
E110G |
probably damaging |
Het |
| Ankrd7 |
A |
G |
6: 18,879,345 (GRCm39) |
H263R |
probably damaging |
Het |
| Cav3 |
T |
C |
6: 112,436,888 (GRCm39) |
|
probably null |
Het |
| Ccdc66 |
T |
C |
14: 27,215,272 (GRCm39) |
R423G |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,291,439 (GRCm39) |
K86E |
possibly damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,927,887 (GRCm39) |
S369T |
probably benign |
Het |
| Hgf |
A |
T |
5: 16,781,939 (GRCm39) |
R221* |
probably null |
Het |
| Hspg2 |
T |
C |
4: 137,267,625 (GRCm39) |
Y2078H |
probably damaging |
Het |
| Kif22 |
A |
C |
7: 126,633,367 (GRCm39) |
V55G |
probably damaging |
Het |
| Mme |
T |
C |
3: 63,253,512 (GRCm39) |
I452T |
probably damaging |
Het |
| Mrpl41 |
T |
C |
2: 24,864,453 (GRCm39) |
N73S |
probably benign |
Het |
| Mup6 |
T |
C |
4: 60,005,529 (GRCm39) |
F112S |
probably damaging |
Het |
| Nktr |
A |
G |
9: 121,560,630 (GRCm39) |
I125V |
possibly damaging |
Het |
| Nup205 |
T |
C |
6: 35,217,998 (GRCm39) |
F1784L |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,393,439 (GRCm39) |
D275G |
possibly damaging |
Het |
| Or4d11 |
G |
A |
19: 12,013,305 (GRCm39) |
T267I |
probably benign |
Het |
| Or5h19 |
T |
C |
16: 58,856,269 (GRCm39) |
Y277C |
probably damaging |
Het |
| Pde6c |
G |
A |
19: 38,164,143 (GRCm39) |
E666K |
probably benign |
Het |
| Pth2r |
A |
T |
1: 65,427,884 (GRCm39) |
D519V |
probably benign |
Het |
| Reln |
A |
T |
5: 22,376,249 (GRCm39) |
I169N |
probably damaging |
Het |
| Shoc1 |
T |
C |
4: 59,047,870 (GRCm39) |
N1250D |
possibly damaging |
Het |
| Slc25a13 |
A |
G |
6: 6,042,739 (GRCm39) |
|
probably null |
Het |
| Smg1 |
A |
G |
7: 117,762,601 (GRCm39) |
|
probably benign |
Het |
| Sp1 |
A |
G |
15: 102,339,364 (GRCm39) |
E434G |
probably damaging |
Het |
| Stt3b |
A |
T |
9: 115,086,612 (GRCm39) |
Y336N |
probably damaging |
Het |
| Vmn2r104 |
T |
A |
17: 20,263,055 (GRCm39) |
R135S |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,464,387 (GRCm39) |
T1515I |
probably damaging |
Het |
| Zfp280d |
A |
G |
9: 72,242,396 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cep76 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R0587:Cep76
|
UTSW |
18 |
67,756,245 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation