Incidental Mutation 'R1140:Cep83'
ID |
102047 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep83
|
Ensembl Gene |
ENSMUSG00000020024 |
Gene Name |
centrosomal protein 83 |
Synonyms |
Ccdc41, 5730513H21Rik, 4921537D05Rik, 2600001G24Rik |
MMRRC Submission |
039213-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1140 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
94524476-94626201 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 94573752 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 214
(K214E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020212
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020212]
|
AlphaFold |
Q9D5R3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020212
AA Change: K214E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000020212 Gene: ENSMUSG00000020024 AA Change: K214E
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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.0%
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430548M08Rik |
T |
A |
8: 120,876,874 (GRCm39) |
S161T |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,981,609 (GRCm39) |
D964E |
probably damaging |
Het |
Aldh18a1 |
T |
C |
19: 40,562,729 (GRCm39) |
I215V |
probably benign |
Het |
Arfgef3 |
T |
A |
10: 18,473,096 (GRCm39) |
I1656F |
possibly damaging |
Het |
Aurka |
T |
C |
2: 172,199,149 (GRCm39) |
D285G |
probably damaging |
Het |
Dis3l2 |
A |
T |
1: 86,749,160 (GRCm39) |
T209S |
probably benign |
Het |
Dock7 |
A |
G |
4: 98,953,643 (GRCm39) |
M363T |
possibly damaging |
Het |
Dsc2 |
C |
A |
18: 20,165,269 (GRCm39) |
K901N |
probably damaging |
Het |
Fam234b |
A |
T |
6: 135,202,756 (GRCm39) |
H370L |
probably benign |
Het |
Fanca |
A |
C |
8: 124,039,868 (GRCm39) |
|
probably null |
Het |
Fastkd5 |
C |
T |
2: 130,458,135 (GRCm39) |
V152I |
probably benign |
Het |
Fndc1 |
T |
C |
17: 7,994,258 (GRCm39) |
R337G |
unknown |
Het |
Fsip2 |
T |
A |
2: 82,805,378 (GRCm39) |
Y566N |
probably damaging |
Het |
Gsc |
A |
T |
12: 104,439,361 (GRCm39) |
M5K |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,412,733 (GRCm39) |
E1893G |
unknown |
Het |
Myh7 |
T |
C |
14: 55,210,339 (GRCm39) |
T1789A |
probably damaging |
Het |
Npr2 |
A |
G |
4: 43,648,353 (GRCm39) |
T884A |
possibly damaging |
Het |
Or1e29 |
T |
A |
11: 73,667,680 (GRCm39) |
M158L |
probably benign |
Het |
Parg |
T |
C |
14: 32,018,200 (GRCm39) |
S432P |
probably benign |
Het |
Ptdss1 |
T |
C |
13: 67,111,420 (GRCm39) |
V162A |
probably benign |
Het |
Samsn1 |
C |
T |
16: 75,685,630 (GRCm39) |
E43K |
possibly damaging |
Het |
Sis |
C |
T |
3: 72,858,949 (GRCm39) |
V361I |
probably damaging |
Het |
Speg |
A |
T |
1: 75,405,739 (GRCm39) |
N2981I |
probably damaging |
Het |
Stk32c |
C |
T |
7: 138,705,095 (GRCm39) |
R23Q |
probably damaging |
Het |
Taok3 |
T |
C |
5: 117,366,118 (GRCm39) |
S231P |
possibly damaging |
Het |
Tbc1d2b |
A |
G |
9: 90,108,429 (GRCm39) |
V374A |
possibly damaging |
Het |
Xxylt1 |
T |
A |
16: 30,826,666 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2014-01-15 |