Incidental Mutation 'R0660:Cenpp'
| ID |
61818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cenpp
|
| Ensembl Gene |
ENSMUSG00000021391 |
| Gene Name |
centromere protein P |
| Synonyms |
1700022C02Rik, 4921518G09Rik |
| MMRRC Submission |
038845-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.315)
|
| Stock # |
R0660 (G1)
|
| Quality Score |
109 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
49617499-49806261 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 49618173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 244
(R244Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021818
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021817]
[ENSMUST00000021818]
[ENSMUST00000220447]
[ENSMUST00000220856]
|
| AlphaFold |
Q9CZ92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021817
|
| SMART Domains |
Protein: ENSMUSP00000021817
Gene: ENSMUSG00000021385
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ins_P5_2-kin
|
13 |
455 |
1.9e-96 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021818
AA Change: R244Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391
AA Change: R244Q
| 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 |
probably benign
Transcript: ENSMUST00000220447
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220856
|
| Meta Mutation Damage Score |
0.0596 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
100% (43/43) |
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
T |
C |
17: 48,473,759 (GRCm39) |
I53V |
probably benign |
Het |
| Abtb3 |
G |
A |
10: 85,224,234 (GRCm39) |
A348T |
possibly damaging |
Het |
| Actr3 |
T |
A |
1: 125,336,304 (GRCm39) |
I129L |
probably benign |
Het |
| Armcx2 |
G |
A |
X: 133,706,385 (GRCm39) |
T416I |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,385,502 (GRCm39) |
M382K |
probably benign |
Het |
| Cacna1b |
A |
G |
2: 24,544,458 (GRCm39) |
S1243P |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,198,621 (GRCm39) |
S1444P |
probably damaging |
Het |
| Fmo4 |
T |
C |
1: 162,637,417 (GRCm39) |
N25S |
probably benign |
Het |
| Ipo8 |
A |
T |
6: 148,701,711 (GRCm39) |
L466I |
probably benign |
Het |
| Or5p6 |
T |
C |
7: 107,630,822 (GRCm39) |
T243A |
probably damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,572,269 (GRCm39) |
|
probably benign |
Het |
| Prkcb |
T |
C |
7: 122,024,182 (GRCm39) |
V69A |
possibly damaging |
Het |
| Sars1 |
G |
A |
3: 108,338,789 (GRCm39) |
L247F |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,758,467 (GRCm39) |
I515V |
probably benign |
Het |
| Tanc1 |
A |
T |
2: 59,674,228 (GRCm39) |
K1778* |
probably null |
Het |
| Zkscan3 |
A |
T |
13: 21,572,630 (GRCm39) |
I167N |
probably damaging |
Het |
|
| Other mutations in Cenpp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Cenpp
|
APN |
13 |
49,801,132 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCACCTGTAACCCAAGGCAGAG -3'
(R):5'- TGGAACTCATCAGACATCCTCCTCC -3'
Sequencing Primer
(F):5'- CTTCAGGAAAGTGGCTTCTTC -3'
(R):5'- ATCAGACATCCTCCTCCTCTGTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation