Incidental Mutation 'IGL02202:Cenph'
| ID |
284366 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cenph
|
| Ensembl Gene |
ENSMUSG00000045273 |
| Gene Name |
centromere protein H |
| Synonyms |
2610042E16Rik, CENP-H, 2410018A12Rik, ENP, 2810046K12Rik, 1700021I11Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02202
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
100896182-100912407 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100898381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 174
(N174S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075550]
|
| AlphaFold |
Q9QYM8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075550
AA Change: N174S
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000074988
Gene: ENSMUSG00000045273
AA Change: N174S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
63 |
101 |
N/A |
INTRINSIC |
|
Pfam:CENP-H
|
133 |
233 |
1.3e-27 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Centromere and kinetochore proteins play a critical role in centromere structure, kinetochore formation, and sister chromatid separation. The protein encoded by this gene colocalizes with inner kinetochore plate proteins CENP-A and CENP-C in both interphase and metaphase. It localizes outside of centromeric heterochromatin, where CENP-B is localized, and inside the kinetochore corona, where CENP-E is localized during prometaphase. It is thought that this protein can bind to itself, as well as to CENP-A, CENP-B or CENP-C. Multimers of the protein localize constitutively to the inner kinetochore plate and play an important role in the organization and function of the active centromere-kinetochore complex. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,238,529 (GRCm39) |
T709I |
possibly damaging |
Het |
| Acte1 |
T |
A |
7: 143,447,910 (GRCm39) |
M251K |
possibly damaging |
Het |
| Arhgef1 |
T |
A |
7: 24,612,854 (GRCm39) |
Y185* |
probably null |
Het |
| Atxn7l1 |
T |
C |
12: 33,392,077 (GRCm39) |
S218P |
probably benign |
Het |
| Cd200r2 |
T |
A |
16: 44,729,723 (GRCm39) |
L126Q |
probably damaging |
Het |
| Cdc6 |
T |
A |
11: 98,811,641 (GRCm39) |
|
probably null |
Het |
| Cep192 |
A |
G |
18: 67,936,207 (GRCm39) |
R49G |
possibly damaging |
Het |
| Edrf1 |
A |
G |
7: 133,258,699 (GRCm39) |
T692A |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,562,220 (GRCm39) |
H762Q |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,764,596 (GRCm39) |
D1185G |
probably damaging |
Het |
| Hsd3b2 |
T |
A |
3: 98,619,183 (GRCm39) |
Y254F |
possibly damaging |
Het |
| Itgal |
C |
A |
7: 126,929,351 (GRCm39) |
Y1089* |
probably null |
Het |
| Klf11 |
T |
G |
12: 24,703,631 (GRCm39) |
V22G |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,667,749 (GRCm39) |
V636A |
probably benign |
Het |
| Nin |
T |
A |
12: 70,102,210 (GRCm39) |
D330V |
probably damaging |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Ntsr2 |
T |
A |
12: 16,703,661 (GRCm39) |
V54E |
probably damaging |
Het |
| Or7g27 |
C |
A |
9: 19,250,545 (GRCm39) |
A263E |
probably benign |
Het |
| Pdha2 |
T |
C |
3: 140,916,412 (GRCm39) |
I365M |
probably benign |
Het |
| Prr19 |
T |
C |
7: 25,003,462 (GRCm39) |
S359P |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,745,274 (GRCm39) |
K2040E |
probably damaging |
Het |
| Ryr2 |
C |
A |
13: 11,762,544 (GRCm39) |
|
probably benign |
Het |
| Sema4a |
G |
T |
3: 88,357,050 (GRCm39) |
A307E |
probably damaging |
Het |
| Setd5 |
T |
A |
6: 113,127,976 (GRCm39) |
S1310T |
probably benign |
Het |
| Tph1 |
A |
T |
7: 46,303,185 (GRCm39) |
D264E |
probably benign |
Het |
| Zc3h6 |
T |
C |
2: 128,858,501 (GRCm39) |
L844P |
probably damaging |
Het |
|
| Other mutations in Cenph |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02392:Cenph
|
APN |
13 |
100,909,269 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0544:Cenph
|
UTSW |
13 |
100,909,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2507:Cenph
|
UTSW |
13 |
100,907,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3974:Cenph
|
UTSW |
13 |
100,900,075 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5251:Cenph
|
UTSW |
13 |
100,898,348 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5333:Cenph
|
UTSW |
13 |
100,898,280 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6692:Cenph
|
UTSW |
13 |
100,909,243 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7143:Cenph
|
UTSW |
13 |
100,898,285 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2015-04-16 |
Incidental Mutation