Incidental Mutation 'IGL02426:Cep76'
| ID |
292924 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep76
|
| Ensembl Gene |
ENSMUSG00000073542 |
| Gene Name |
centrosomal protein 76 |
| Synonyms |
6230425F05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02426
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
67750870-67774406 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67767987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 182
(S182P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097542]
|
| AlphaFold |
Q0VEJ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097542
AA Change: S182P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095149
Gene: ENSMUSG00000073542
AA Change: S182P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CEP76-C2
|
99 |
258 |
4.1e-64 |
PFAM |
|
low complexity region
|
383 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
553 |
564 |
N/A |
INTRINSIC |
|
Blast:KIND
|
604 |
654 |
2e-27 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
A |
16: 20,157,675 (GRCm39) |
T1294M |
probably damaging |
Het |
| Bad |
A |
G |
19: 6,928,785 (GRCm39) |
S128G |
probably damaging |
Het |
| Casp9 |
T |
G |
4: 141,539,515 (GRCm39) |
|
probably null |
Het |
| Ccdc39 |
T |
C |
3: 33,879,547 (GRCm39) |
K507R |
possibly damaging |
Het |
| Cmklr2 |
T |
C |
1: 63,222,827 (GRCm39) |
Y136C |
probably damaging |
Het |
| Cmtr2 |
A |
G |
8: 110,948,322 (GRCm39) |
M211V |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,204,351 (GRCm39) |
K777* |
probably null |
Het |
| Cul9 |
T |
G |
17: 46,834,184 (GRCm39) |
T1253P |
possibly damaging |
Het |
| Dmd |
T |
A |
X: 83,892,342 (GRCm39) |
L3002H |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 66,015,979 (GRCm39) |
V421I |
probably benign |
Het |
| Eif4a2 |
A |
G |
16: 22,929,399 (GRCm39) |
I234V |
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,421,514 (GRCm39) |
M323V |
probably benign |
Het |
| Fam47c |
A |
G |
X: 77,781,943 (GRCm39) |
D175G |
probably benign |
Het |
| Gm14178 |
T |
C |
11: 99,638,341 (GRCm39) |
|
|
Het |
| Hes3 |
T |
C |
4: 152,371,397 (GRCm39) |
N184S |
probably benign |
Het |
| Kdm6a |
A |
G |
X: 18,112,549 (GRCm39) |
E45G |
probably damaging |
Het |
| Kdr |
T |
C |
5: 76,135,126 (GRCm39) |
K33E |
probably benign |
Het |
| Or2a52 |
A |
C |
6: 43,144,022 (GRCm39) |
D10A |
probably benign |
Het |
| Or4k37 |
A |
T |
2: 111,158,920 (GRCm39) |
D52V |
probably damaging |
Het |
| Or4k45 |
A |
T |
2: 111,394,883 (GRCm39) |
I302K |
probably benign |
Het |
| Or52n4b |
A |
G |
7: 108,144,187 (GRCm39) |
T150A |
probably benign |
Het |
| Or8h7 |
A |
G |
2: 86,720,964 (GRCm39) |
L185S |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,196,296 (GRCm39) |
|
probably benign |
Het |
| Pigk |
T |
A |
3: 152,448,120 (GRCm39) |
|
probably null |
Het |
| Pikfyve |
A |
G |
1: 65,290,771 (GRCm39) |
T1197A |
possibly damaging |
Het |
| Plppr4 |
T |
C |
3: 117,115,944 (GRCm39) |
I638V |
probably benign |
Het |
| Pramel28 |
T |
C |
4: 143,693,229 (GRCm39) |
D83G |
possibly damaging |
Het |
| Rtl9 |
T |
C |
X: 141,886,098 (GRCm39) |
V1170A |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,731,250 (GRCm39) |
S687P |
possibly damaging |
Het |
| Skint5 |
T |
C |
4: 113,797,981 (GRCm39) |
T201A |
probably benign |
Het |
| Socs5 |
G |
T |
17: 87,442,320 (GRCm39) |
R420L |
probably damaging |
Het |
| Sos1 |
C |
T |
17: 80,742,372 (GRCm39) |
S385N |
possibly damaging |
Het |
| Tomm34 |
A |
T |
2: 163,906,875 (GRCm39) |
V106D |
probably damaging |
Het |
| Tubal3 |
T |
C |
13: 3,982,750 (GRCm39) |
S177P |
probably damaging |
Het |
| Wbp2nl |
G |
A |
15: 82,190,374 (GRCm39) |
A101T |
probably damaging |
Het |
|
| Other mutations in Cep76 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01333:Cep76
|
APN |
18 |
67,773,187 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01344:Cep76
|
APN |
18 |
67,756,467 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02544:Cep76
|
APN |
18 |
67,768,020 (GRCm39) |
splice site |
probably benign |
|
|
IGL02711:Cep76
|
APN |
18 |
67,771,406 (GRCm39) |
missense |
probably benign |
|
|
IGL03283:Cep76
|
APN |
18 |
67,773,139 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0117:Cep76
|
UTSW |
18 |
67,759,744 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0450:Cep76
|
UTSW |
18 |
67,767,850 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0469:Cep76
|
UTSW |
18 |
67,767,850 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0587:Cep76
|
UTSW |
18 |
67,756,245 (GRCm39) |
nonsense |
probably null |
|
|
R0658:Cep76
|
UTSW |
18 |
67,756,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0667:Cep76
|
UTSW |
18 |
67,767,848 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1508:Cep76
|
UTSW |
18 |
67,756,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Cep76
|
UTSW |
18 |
67,758,028 (GRCm39) |
missense |
probably benign |
|
|
R4280:Cep76
|
UTSW |
18 |
67,773,229 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4355:Cep76
|
UTSW |
18 |
67,759,710 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4702:Cep76
|
UTSW |
18 |
67,767,968 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4847:Cep76
|
UTSW |
18 |
67,752,639 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5650:Cep76
|
UTSW |
18 |
67,758,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5897:Cep76
|
UTSW |
18 |
67,771,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6648:Cep76
|
UTSW |
18 |
67,752,804 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7193:Cep76
|
UTSW |
18 |
67,774,204 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7822:Cep76
|
UTSW |
18 |
67,774,219 (GRCm39) |
nonsense |
probably null |
|
|
R7846:Cep76
|
UTSW |
18 |
67,762,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8870:Cep76
|
UTSW |
18 |
67,773,190 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8883:Cep76
|
UTSW |
18 |
67,766,540 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9025:Cep76
|
UTSW |
18 |
67,767,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9221:Cep76
|
UTSW |
18 |
67,767,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation