Incidental Mutation 'R5115:Cep83'
ID |
394155 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep83
|
Ensembl Gene |
ENSMUSG00000020024 |
Gene Name |
centrosomal protein 83 |
Synonyms |
Ccdc41, 5730513H21Rik, 4921537D05Rik, 2600001G24Rik |
MMRRC Submission |
042703-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5115 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
94524476-94626201 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 94604751 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 488
(H488R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020212
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020212]
|
AlphaFold |
Q9D5R3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020212
AA Change: H488R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000020212 Gene: ENSMUSG00000020024 AA Change: H488R
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.2%
|
Validation Efficiency |
100% (47/47) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
C |
T |
11: 54,231,324 (GRCm39) |
|
probably null |
Het |
Asic1 |
C |
T |
15: 99,569,933 (GRCm39) |
L85F |
probably damaging |
Het |
Atic |
G |
A |
1: 71,596,434 (GRCm39) |
|
probably null |
Het |
Atp1b2 |
T |
C |
11: 69,494,299 (GRCm39) |
T65A |
probably damaging |
Het |
C2cd6 |
T |
A |
1: 59,090,420 (GRCm39) |
I446L |
probably benign |
Het |
Cwc15 |
A |
G |
9: 14,419,192 (GRCm39) |
I163V |
probably benign |
Het |
Cyp11b2 |
A |
T |
15: 74,727,277 (GRCm39) |
|
probably null |
Het |
Fat2 |
A |
G |
11: 55,187,159 (GRCm39) |
V1229A |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,174,303 (GRCm39) |
D1851G |
probably damaging |
Het |
Golga7 |
A |
T |
8: 23,735,986 (GRCm39) |
|
probably null |
Het |
Gsdmc2 |
A |
T |
15: 63,699,617 (GRCm39) |
H270Q |
probably benign |
Het |
Kdm4a |
G |
T |
4: 118,019,778 (GRCm39) |
P326Q |
possibly damaging |
Het |
Kng1 |
G |
A |
16: 22,888,032 (GRCm39) |
R209H |
possibly damaging |
Het |
Mfn1 |
T |
C |
3: 32,618,456 (GRCm39) |
|
probably null |
Het |
Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
Nlrc5 |
G |
A |
8: 95,203,447 (GRCm39) |
V516I |
possibly damaging |
Het |
Nrbp1 |
T |
G |
5: 31,401,059 (GRCm39) |
Y96* |
probably null |
Het |
Papola |
T |
C |
12: 105,793,219 (GRCm39) |
V513A |
probably benign |
Het |
Pikfyve |
T |
C |
1: 65,263,276 (GRCm39) |
|
probably benign |
Het |
Plin1 |
AGGCCACCAGGGGGTGGGC |
AGGC |
7: 79,379,692 (GRCm39) |
|
probably benign |
Het |
Prkdc |
A |
G |
16: 15,608,444 (GRCm39) |
Q3082R |
probably benign |
Het |
Rbfox1 |
A |
G |
16: 7,227,636 (GRCm39) |
S405G |
probably damaging |
Het |
Recql |
T |
C |
6: 142,304,285 (GRCm39) |
|
probably benign |
Het |
Serpina3c |
T |
C |
12: 104,113,651 (GRCm39) |
E365G |
probably damaging |
Het |
Slc17a5 |
A |
G |
9: 78,484,394 (GRCm39) |
V122A |
probably benign |
Het |
Sprr2b |
G |
T |
3: 92,224,862 (GRCm39) |
C36F |
unknown |
Het |
Stk36 |
T |
C |
1: 74,674,986 (GRCm39) |
I1307T |
probably damaging |
Het |
Tmc6 |
G |
A |
11: 117,666,014 (GRCm39) |
T300I |
probably damaging |
Het |
Ttll9 |
C |
A |
2: 152,831,510 (GRCm39) |
|
probably benign |
Het |
Vmn1r71 |
T |
A |
7: 10,481,885 (GRCm39) |
M202L |
probably benign |
Het |
Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
probably benign |
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 |
IGL00912:Cep83
|
APN |
10 |
94,573,728 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTATTCATTACTCACTTACAGGGC -3'
(R):5'- TAGAAGGAGAAAGTAACTTCCCAC -3'
Sequencing Primer
(F):5'- GCACCCTGCATGCCTCAC -3'
(R):5'- CTTCCCACAAATACATTCAATGTTTC -3'
|
Posted On |
2016-06-15 |