Incidental Mutation 'IGL00912:Cep83'
| ID |
28317 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep83
|
| Ensembl Gene |
ENSMUSG00000020024 |
| Gene Name |
centrosomal protein 83 |
| Synonyms |
Ccdc41, 5730513H21Rik, 4921537D05Rik, 2600001G24Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00912
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
94524476-94626201 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 94573728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 206
(R206*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020212]
|
| AlphaFold |
Q9D5R3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020212
AA Change: R206*
|
| SMART Domains |
Protein: ENSMUSP00000020212
Gene: ENSMUSG00000020024
AA Change: R206*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
31 |
100 |
N/A |
INTRINSIC |
|
coiled coil region
|
121 |
602 |
N/A |
INTRINSIC |
|
coiled coil region
|
656 |
689 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220052
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,529,270 (GRCm39) |
M957I |
probably benign |
Het |
| H3f3b |
A |
T |
11: 115,914,270 (GRCm39) |
I125N |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Jag1 |
G |
A |
2: 136,957,493 (GRCm39) |
T73M |
probably damaging |
Het |
| Mrps35 |
T |
A |
6: 146,957,419 (GRCm39) |
I148N |
possibly damaging |
Het |
| Nostrin |
G |
A |
2: 69,013,163 (GRCm39) |
|
probably benign |
Het |
| Rer1 |
A |
G |
4: 155,167,122 (GRCm39) |
|
probably null |
Het |
| Scaper |
A |
G |
9: 55,593,239 (GRCm39) |
L466S |
probably damaging |
Het |
| Tmem87a |
T |
C |
2: 120,234,417 (GRCm39) |
D42G |
possibly damaging |
Het |
| Ttn |
G |
T |
2: 76,569,176 (GRCm39) |
T27239K |
probably damaging |
Het |
| Ugt3a1 |
G |
A |
15: 9,310,698 (GRCm39) |
V327M |
probably damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,751,654 (GRCm39) |
T566A |
possibly damaging |
Het |
|
| Other mutations in Cep83 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00671:Cep83
|
APN |
10 |
94,625,626 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01141:Cep83
|
APN |
10 |
94,624,619 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0358:Cep83
|
UTSW |
10 |
94,555,593 (GRCm39) |
missense |
probably benign |
|
|
R0530:Cep83
|
UTSW |
10 |
94,555,450 (GRCm39) |
splice site |
probably benign |
|
|
R0579:Cep83
|
UTSW |
10 |
94,584,915 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1140:Cep83
|
UTSW |
10 |
94,573,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1573:Cep83
|
UTSW |
10 |
94,624,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Cep83
|
UTSW |
10 |
94,586,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3121:Cep83
|
UTSW |
10 |
94,622,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3684:Cep83
|
UTSW |
10 |
94,622,687 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5115:Cep83
|
UTSW |
10 |
94,604,751 (GRCm39) |
missense |
probably benign |
|
|
R5325:Cep83
|
UTSW |
10 |
94,573,768 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5439:Cep83
|
UTSW |
10 |
94,625,600 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5782:Cep83
|
UTSW |
10 |
94,584,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5891:Cep83
|
UTSW |
10 |
94,561,537 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7229:Cep83
|
UTSW |
10 |
94,555,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7632:Cep83
|
UTSW |
10 |
94,586,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7953:Cep83
|
UTSW |
10 |
94,573,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8043:Cep83
|
UTSW |
10 |
94,573,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8167:Cep83
|
UTSW |
10 |
94,564,579 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8171:Cep83
|
UTSW |
10 |
94,604,797 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8409:Cep83
|
UTSW |
10 |
94,573,839 (GRCm39) |
nonsense |
probably null |
|
|
R9079:Cep83
|
UTSW |
10 |
94,564,541 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9195:Cep83
|
UTSW |
10 |
94,604,801 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9522:Cep83
|
UTSW |
10 |
94,586,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9604:Cep83
|
UTSW |
10 |
94,554,939 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2013-04-17 |
Incidental Mutation