Incidental Mutation 'R0579:Cep83'
| ID |
56360 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep83
|
| Ensembl Gene |
ENSMUSG00000020024 |
| Gene Name |
centrosomal protein 83 |
| Synonyms |
Ccdc41, 5730513H21Rik, 4921537D05Rik, 2600001G24Rik |
| MMRRC Submission |
038769-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0579 (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 94584915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 340
(D340G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020212]
|
| AlphaFold |
Q9D5R3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020212
AA Change: D340G
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000020212
Gene: ENSMUSG00000020024
AA Change: D340G
| 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 |
0.0888 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.7%
|
| Validation Efficiency |
89% (34/38) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| Abcf3 |
G |
A |
16: 20,369,398 (GRCm39) |
R260Q |
probably benign |
Het |
| Abcg3 |
A |
G |
5: 105,121,969 (GRCm39) |
V136A |
probably damaging |
Het |
| Acr |
C |
G |
15: 89,453,678 (GRCm39) |
H72Q |
probably damaging |
Het |
| Ambra1 |
A |
G |
2: 91,654,810 (GRCm39) |
N783S |
possibly damaging |
Het |
| Cd300ld2 |
A |
G |
11: 114,903,125 (GRCm39) |
F240S |
probably benign |
Het |
| Crybg2 |
T |
A |
4: 133,800,049 (GRCm39) |
I403N |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,572,312 (GRCm39) |
M2881K |
possibly damaging |
Het |
| Erbb4 |
T |
C |
1: 68,081,621 (GRCm39) |
M1138V |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,969,575 (GRCm39) |
V112A |
probably benign |
Het |
| F2r |
A |
G |
13: 95,754,857 (GRCm39) |
V9A |
probably benign |
Het |
| Flot1 |
C |
A |
17: 36,141,900 (GRCm39) |
S337R |
probably benign |
Het |
| Glt28d2 |
G |
A |
3: 85,779,440 (GRCm39) |
T11I |
probably damaging |
Het |
| Gm19345 |
A |
G |
7: 19,588,901 (GRCm39) |
|
probably benign |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Hmgcs2 |
A |
T |
3: 98,198,264 (GRCm39) |
I56F |
probably damaging |
Het |
| Ifna9 |
T |
A |
4: 88,510,508 (GRCm39) |
T39S |
possibly damaging |
Het |
| Il21 |
T |
G |
3: 37,281,923 (GRCm39) |
K74Q |
possibly damaging |
Het |
| Itpripl1 |
G |
T |
2: 126,983,011 (GRCm39) |
Y370* |
probably null |
Het |
| Kif24 |
G |
A |
4: 41,393,706 (GRCm39) |
P1056S |
probably damaging |
Het |
| L2hgdh |
A |
T |
12: 69,748,046 (GRCm39) |
|
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,724,298 (GRCm39) |
L156Q |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,063,844 (GRCm39) |
M84K |
probably benign |
Het |
| Npy4r |
G |
A |
14: 33,868,640 (GRCm39) |
T216I |
probably benign |
Het |
| Or12d17 |
T |
C |
17: 37,777,238 (GRCm39) |
V47A |
probably benign |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or6c1 |
A |
T |
10: 129,518,106 (GRCm39) |
C167* |
probably null |
Het |
| Pafah1b2 |
T |
C |
9: 45,880,011 (GRCm39) |
E222G |
probably benign |
Het |
| Pop1 |
T |
A |
15: 34,510,115 (GRCm39) |
D406E |
possibly damaging |
Het |
| Proser1 |
A |
G |
3: 53,374,572 (GRCm39) |
Y32C |
probably damaging |
Het |
| Ptprj |
C |
A |
2: 90,266,913 (GRCm39) |
|
probably null |
Het |
| Slc1a3 |
T |
A |
15: 8,717,793 (GRCm39) |
I100F |
probably damaging |
Het |
| Slc25a22 |
T |
C |
7: 141,011,272 (GRCm39) |
D176G |
probably damaging |
Het |
| Stard7 |
T |
C |
2: 127,126,473 (GRCm39) |
V99A |
probably damaging |
Het |
| Stk33 |
C |
T |
7: 108,924,904 (GRCm39) |
V184I |
probably damaging |
Het |
| Timmdc1 |
A |
G |
16: 38,342,745 (GRCm39) |
L51P |
probably benign |
Het |
| Tppp |
T |
C |
13: 74,169,352 (GRCm39) |
S31P |
probably benign |
Het |
| Upf2 |
A |
T |
2: 5,993,240 (GRCm39) |
R599W |
unknown |
Het |
| Vav1 |
G |
T |
17: 57,586,271 (GRCm39) |
W25L |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCCAATTTTGGTTAAGCCCTGG -3'
(R):5'- ACACAGGACAGGCTCGCATTTTC -3'
Sequencing Primer
(F):5'- GACGGTACTTATACCCTGCAC -3'
(R):5'- AGGCTCGCATTTTCAATGTTTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation