Incidental Mutation 'IGL00419:Cenpp'
| ID |
5939 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cenpp
|
| Ensembl Gene |
ENSMUSG00000021391 |
| Gene Name |
centromere protein P |
| Synonyms |
1700022C02Rik, 4921518G09Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.348)
|
| Stock # |
IGL00419
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
49617499-49806261 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 49801132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021818
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021818]
|
| AlphaFold |
Q9CZ92 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021818
|
| SMART Domains |
Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
34 |
N/A |
INTRINSIC |
|
Pfam:CENP-P
|
102 |
278 |
3.9e-89 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221751
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1a4 |
A |
C |
1: 172,067,373 (GRCm39) |
N586K |
probably damaging |
Het |
| AU040320 |
T |
C |
4: 126,686,027 (GRCm39) |
M201T |
probably benign |
Het |
| Bcap29 |
A |
T |
12: 31,680,871 (GRCm39) |
F38L |
probably benign |
Het |
| Bdkrb2 |
A |
G |
12: 105,554,562 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
G |
T |
7: 17,493,481 (GRCm39) |
E835* |
probably null |
Het |
| Clca3a2 |
A |
G |
3: 144,804,574 (GRCm39) |
V51A |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,313,951 (GRCm39) |
N1660D |
probably damaging |
Het |
| Exosc9 |
T |
C |
3: 36,607,288 (GRCm39) |
|
probably benign |
Het |
| Ezh1 |
T |
C |
11: 101,085,332 (GRCm39) |
|
probably null |
Het |
| Fbxo24 |
G |
A |
5: 137,622,563 (GRCm39) |
R68C |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,241,943 (GRCm39) |
I205V |
probably benign |
Het |
| Gpc5 |
A |
G |
14: 115,607,436 (GRCm39) |
Y346C |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,810,818 (GRCm39) |
Y1706H |
probably damaging |
Het |
| Igsf9b |
A |
G |
9: 27,230,951 (GRCm39) |
Y318C |
probably damaging |
Het |
| Map1a |
A |
T |
2: 121,129,508 (GRCm39) |
Q182L |
probably damaging |
Het |
| Rab11fip3 |
A |
T |
17: 26,210,783 (GRCm39) |
|
probably benign |
Het |
| Rbm20 |
G |
A |
19: 53,831,695 (GRCm39) |
R643Q |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 51,967,150 (GRCm39) |
C1707S |
probably damaging |
Het |
| Rpgrip1l |
G |
T |
8: 91,990,202 (GRCm39) |
R747S |
possibly damaging |
Het |
| Rsph10b |
T |
C |
5: 143,873,905 (GRCm39) |
*166R |
probably null |
Het |
| Sft2d1 |
G |
A |
17: 8,539,437 (GRCm39) |
C80Y |
possibly damaging |
Het |
| Zdhhc14 |
T |
C |
17: 5,802,959 (GRCm39) |
|
probably benign |
Het |
| Zfp300 |
T |
A |
X: 20,948,531 (GRCm39) |
Y411F |
probably damaging |
Het |
| Zfp92 |
T |
C |
X: 72,463,764 (GRCm39) |
|
probably benign |
Het |
| Zhx1 |
A |
G |
15: 57,916,711 (GRCm39) |
F512L |
probably damaging |
Het |
|
| Other mutations in Cenpp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01323:Cenpp
|
APN |
13 |
49,801,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01397:Cenpp
|
APN |
13 |
49,794,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01553:Cenpp
|
APN |
13 |
49,618,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02489:Cenpp
|
APN |
13 |
49,803,594 (GRCm39) |
splice site |
probably null |
|
|
IGL03024:Cenpp
|
APN |
13 |
49,617,730 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0218:Cenpp
|
UTSW |
13 |
49,801,108 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0660:Cenpp
|
UTSW |
13 |
49,618,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1868:Cenpp
|
UTSW |
13 |
49,794,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4097:Cenpp
|
UTSW |
13 |
49,647,265 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4377:Cenpp
|
UTSW |
13 |
49,647,907 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4595:Cenpp
|
UTSW |
13 |
49,794,710 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5173:Cenpp
|
UTSW |
13 |
49,618,258 (GRCm39) |
frame shift |
probably null |
|
|
R5174:Cenpp
|
UTSW |
13 |
49,618,258 (GRCm39) |
frame shift |
probably null |
|
|
R5953:Cenpp
|
UTSW |
13 |
49,806,161 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7054:Cenpp
|
UTSW |
13 |
49,619,233 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8452:Cenpp
|
UTSW |
13 |
49,683,887 (GRCm39) |
splice site |
probably null |
|
|
R9602:Cenpp
|
UTSW |
13 |
49,801,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF023:Cenpp
|
UTSW |
13 |
49,803,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Cenpp
|
UTSW |
13 |
49,801,134 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation