Incidental Mutation 'IGL00671:Cep83'
| ID |
13344 |
| 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 # |
IGL00671
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
94524476-94626201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94625626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 679
(T679A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020212]
[ENSMUST00000099337]
|
| AlphaFold |
Q9D5R3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020212
AA Change: T679A
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000020212
Gene: ENSMUSG00000020024
AA Change: T679A
| 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 |
probably benign
Transcript: ENSMUST00000099337
|
| SMART Domains |
Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
Pfam:Sema
|
87 |
431 |
5.5e-10 |
PFAM |
|
PSI
|
454 |
507 |
5.28e-12 |
SMART |
|
PSI
|
590 |
634 |
1.07e-3 |
SMART |
|
Pfam:TIG
|
665 |
752 |
3.7e-9 |
PFAM |
|
IPT
|
755 |
847 |
5.14e-7 |
SMART |
|
IPT
|
849 |
954 |
1.8e-2 |
SMART |
|
low complexity region
|
978 |
997 |
N/A |
INTRINSIC |
|
Pfam:Plexin_cytopl
|
1018 |
1541 |
1.4e-199 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218201
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,980,745 (GRCm39) |
R576* |
probably null |
Het |
| Astl |
T |
C |
2: 127,185,941 (GRCm39) |
|
probably null |
Het |
| Atp6v1h |
T |
C |
1: 5,194,694 (GRCm39) |
|
probably null |
Het |
| Avpr1a |
A |
T |
10: 122,285,256 (GRCm39) |
I183L |
probably benign |
Het |
| Dennd1b |
A |
T |
1: 139,061,475 (GRCm39) |
I386F |
possibly damaging |
Het |
| Dnaaf6rt |
G |
A |
1: 31,262,053 (GRCm39) |
V12I |
probably benign |
Het |
| Ect2 |
T |
C |
3: 27,192,818 (GRCm39) |
N344S |
probably benign |
Het |
| Ghrh |
G |
A |
2: 157,175,389 (GRCm39) |
H31Y |
probably benign |
Het |
| Gpc6 |
A |
T |
14: 117,424,199 (GRCm39) |
T96S |
probably benign |
Het |
| Man2b1 |
A |
C |
8: 85,820,567 (GRCm39) |
D618A |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,084,183 (GRCm39) |
E1602G |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,411,067 (GRCm39) |
I175N |
probably damaging |
Het |
| Oga |
C |
A |
19: 45,753,979 (GRCm39) |
A632S |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,543,097 (GRCm39) |
|
probably null |
Het |
| Otop2 |
A |
G |
11: 115,222,735 (GRCm39) |
N539S |
probably damaging |
Het |
| Ralbp1 |
T |
A |
17: 66,171,607 (GRCm39) |
E122V |
possibly damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,723,940 (GRCm39) |
S413R |
possibly damaging |
Het |
| Tcf12 |
T |
A |
9: 71,775,400 (GRCm39) |
N450I |
probably damaging |
Het |
| Tle3 |
T |
A |
9: 61,319,652 (GRCm39) |
N492K |
probably damaging |
Het |
| Ttll8 |
T |
C |
15: 88,798,356 (GRCm39) |
D793G |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,280,211 (GRCm39) |
T756A |
possibly damaging |
Het |
| Zfand1 |
T |
C |
3: 10,411,084 (GRCm39) |
H96R |
probably damaging |
Het |
| Zfp617 |
C |
T |
8: 72,686,386 (GRCm39) |
R239* |
probably null |
Het |
| Zmpste24 |
A |
G |
4: 120,940,012 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cep83 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation