Incidental Mutation 'IGL00339:Cep72'
| ID |
28809 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep72
|
| Ensembl Gene |
ENSMUSG00000021572 |
| Gene Name |
centrosomal protein 72 |
| Synonyms |
2610029E11Rik, 4933440J22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL00339
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
74184619-74210418 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 74210387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036456]
[ENSMUST00000220483]
[ENSMUST00000222609]
|
| AlphaFold |
Q9D3R3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036456
|
| SMART Domains |
Protein: ENSMUSP00000037788
Gene: ENSMUSG00000021572
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
52 |
73 |
2.92e1 |
SMART |
|
LRR
|
74 |
96 |
5.34e-1 |
SMART |
|
LRRcap
|
116 |
134 |
1.89e-4 |
SMART |
|
low complexity region
|
307 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
428 |
N/A |
INTRINSIC |
|
coiled coil region
|
485 |
531 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220483
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222609
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223028
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,213,893 (GRCm39) |
M707V |
probably benign |
Het |
| Amz2 |
A |
T |
11: 109,324,847 (GRCm39) |
I244F |
probably damaging |
Het |
| Atp4a |
T |
C |
7: 30,412,629 (GRCm39) |
C112R |
possibly damaging |
Het |
| Axin2 |
A |
G |
11: 108,814,816 (GRCm39) |
T235A |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Brd8 |
C |
A |
18: 34,742,936 (GRCm39) |
G310* |
probably null |
Het |
| Capn11 |
A |
T |
17: 45,954,693 (GRCm39) |
I148N |
probably damaging |
Het |
| Caskin2 |
A |
G |
11: 115,694,425 (GRCm39) |
L392P |
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,467 (GRCm39) |
Y298C |
possibly damaging |
Het |
| Cyp21a1 |
C |
T |
17: 35,023,108 (GRCm39) |
|
probably null |
Het |
| F830045P16Rik |
T |
C |
2: 129,302,449 (GRCm39) |
D381G |
probably damaging |
Het |
| Fnip2 |
T |
G |
3: 79,422,462 (GRCm39) |
H106P |
probably benign |
Het |
| Fosl1 |
T |
A |
19: 5,500,330 (GRCm39) |
I83K |
probably damaging |
Het |
| Foxk2 |
C |
T |
11: 121,190,560 (GRCm39) |
T567M |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,599,525 (GRCm39) |
N208S |
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Heatr5a |
A |
T |
12: 51,935,684 (GRCm39) |
I1634N |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,266,506 (GRCm39) |
T1889M |
probably damaging |
Het |
| Kcnh6 |
C |
T |
11: 105,909,845 (GRCm39) |
P457S |
probably damaging |
Het |
| Kcnk18 |
G |
T |
19: 59,223,502 (GRCm39) |
A216S |
probably benign |
Het |
| Klhl42 |
A |
G |
6: 147,003,231 (GRCm39) |
Y335C |
probably damaging |
Het |
| Lrguk |
C |
T |
6: 34,020,364 (GRCm39) |
P36L |
probably damaging |
Het |
| Mmp1b |
T |
A |
9: 7,368,304 (GRCm39) |
R443S |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,963,649 (GRCm39) |
S501P |
probably benign |
Het |
| Neurl4 |
C |
T |
11: 69,795,413 (GRCm39) |
R422W |
probably damaging |
Het |
| Nol4 |
T |
C |
18: 22,956,469 (GRCm39) |
S311G |
probably benign |
Het |
| Oaf |
T |
C |
9: 43,135,313 (GRCm39) |
D155G |
probably damaging |
Het |
| Oas1g |
T |
A |
5: 121,024,109 (GRCm39) |
K67* |
probably null |
Het |
| Or1l4 |
T |
C |
2: 37,091,609 (GRCm39) |
S119P |
probably damaging |
Het |
| Or2a20 |
T |
G |
6: 43,194,782 (GRCm39) |
L312V |
probably benign |
Het |
| Rims2 |
C |
A |
15: 39,323,011 (GRCm39) |
T735K |
probably benign |
Het |
| Sema4f |
T |
C |
6: 82,914,155 (GRCm39) |
T68A |
probably benign |
Het |
| Snx19 |
T |
G |
9: 30,340,380 (GRCm39) |
V506G |
possibly damaging |
Het |
| Sp140 |
T |
A |
1: 85,569,543 (GRCm39) |
C107* |
probably null |
Het |
| Sspo |
G |
A |
6: 48,460,680 (GRCm39) |
|
probably benign |
Het |
| Syce1l |
T |
G |
8: 114,376,134 (GRCm39) |
L28R |
probably damaging |
Het |
| Tgm3 |
G |
A |
2: 129,880,333 (GRCm39) |
V380M |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,143,628 (GRCm39) |
V104D |
possibly damaging |
Het |
|
| Other mutations in Cep72 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01373:Cep72
|
APN |
13 |
74,207,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02415:Cep72
|
APN |
13 |
74,198,273 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL03372:Cep72
|
APN |
13 |
74,191,637 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0608:Cep72
|
UTSW |
13 |
74,186,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0884:Cep72
|
UTSW |
13 |
74,203,000 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2400:Cep72
|
UTSW |
13 |
74,197,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4906:Cep72
|
UTSW |
13 |
74,207,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5534:Cep72
|
UTSW |
13 |
74,210,335 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5567:Cep72
|
UTSW |
13 |
74,188,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5570:Cep72
|
UTSW |
13 |
74,188,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5816:Cep72
|
UTSW |
13 |
74,197,150 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6310:Cep72
|
UTSW |
13 |
74,201,144 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6513:Cep72
|
UTSW |
13 |
74,206,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6848:Cep72
|
UTSW |
13 |
74,186,395 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6936:Cep72
|
UTSW |
13 |
74,188,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:Cep72
|
UTSW |
13 |
74,206,444 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7006:Cep72
|
UTSW |
13 |
74,198,427 (GRCm39) |
nonsense |
probably null |
|
|
R7074:Cep72
|
UTSW |
13 |
74,199,699 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7640:Cep72
|
UTSW |
13 |
74,206,607 (GRCm39) |
nonsense |
probably null |
|
|
R7889:Cep72
|
UTSW |
13 |
74,198,241 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8260:Cep72
|
UTSW |
13 |
74,206,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8751:Cep72
|
UTSW |
13 |
74,198,303 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8789:Cep72
|
UTSW |
13 |
74,186,367 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9202:Cep72
|
UTSW |
13 |
74,198,420 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-04-17 |
Incidental Mutation