Incidental Mutation 'IGL03343:Cenpc1'
| ID |
417337 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cenpc1
|
| Ensembl Gene |
ENSMUSG00000029253 |
| Gene Name |
centromere protein C1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03343
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
86159883-86213442 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86164181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 813
(F813L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031170]
|
| AlphaFold |
P49452 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031170
AA Change: F813L
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031170
Gene: ENSMUSG00000029253
AA Change: F813L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CENP_C_N
|
7 |
121 |
6.1e-42 |
PFAM |
|
Pfam:CENP_C_N
|
115 |
261 |
2.6e-46 |
PFAM |
|
Pfam:CENP-C_mid
|
265 |
519 |
5.4e-100 |
PFAM |
|
PDB:4INM|W
|
700 |
724 |
5e-9 |
PDB |
|
Pfam:CENP-C_C
|
819 |
903 |
3.9e-28 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a centromeric protein component of a nucleosome-associated complex that plays a central role in kinetochore protein assembly, mitotic progression and chromosome segregation. The human ortholog encodes a protein with DNA-binding activity, that associates constitutively to kinetochores throughout the cell cycle, as part of a prekinetochore complex, together with centromeric protein-A and centromeric protein-B. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous mutation of this gene results in early embryonic lethality and mitotic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
A |
G |
7: 66,725,064 (GRCm39) |
H795R |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,565,016 (GRCm39) |
I188K |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,431,507 (GRCm39) |
Y5974H |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,778,623 (GRCm39) |
T336A |
probably damaging |
Het |
| Arhgap30 |
C |
A |
1: 171,236,662 (GRCm39) |
T1012N |
probably damaging |
Het |
| Asl |
A |
T |
5: 130,040,908 (GRCm39) |
Y178N |
probably damaging |
Het |
| Brd1 |
C |
A |
15: 88,591,454 (GRCm39) |
L714F |
possibly damaging |
Het |
| Ccdc47 |
A |
G |
11: 106,095,788 (GRCm39) |
S303P |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,848,420 (GRCm39) |
I858N |
probably damaging |
Het |
| Cdk16 |
A |
G |
X: 20,561,998 (GRCm39) |
K264E |
probably damaging |
Het |
| Cfp |
A |
C |
X: 20,794,248 (GRCm39) |
F291C |
possibly damaging |
Het |
| Chordc1 |
T |
G |
9: 18,223,762 (GRCm39) |
F276V |
probably damaging |
Het |
| Clic4 |
C |
T |
4: 134,945,889 (GRCm39) |
R176H |
possibly damaging |
Het |
| Fcer1a |
T |
G |
1: 173,053,040 (GRCm39) |
N52T |
possibly damaging |
Het |
| Fndc7 |
A |
T |
3: 108,774,624 (GRCm39) |
C545S |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,559,674 (GRCm39) |
D1611G |
probably damaging |
Het |
| Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
| Gga3 |
A |
T |
11: 115,483,312 (GRCm39) |
N82K |
probably damaging |
Het |
| Gm43638 |
G |
A |
5: 87,608,484 (GRCm39) |
P452S |
possibly damaging |
Het |
| Gpn1 |
T |
C |
5: 31,662,309 (GRCm39) |
S244P |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,787,828 (GRCm39) |
S665G |
probably benign |
Het |
| Htt |
A |
G |
5: 34,983,385 (GRCm39) |
I995V |
probably benign |
Het |
| Iars1 |
A |
T |
13: 49,878,223 (GRCm39) |
I916L |
probably benign |
Het |
| Ice1 |
C |
A |
13: 70,751,048 (GRCm39) |
L1679F |
probably damaging |
Het |
| Inpp1 |
A |
T |
1: 52,838,486 (GRCm39) |
D54E |
probably damaging |
Het |
| Irf2bpl |
T |
C |
12: 86,929,713 (GRCm39) |
E320G |
possibly damaging |
Het |
| Itprid1 |
T |
G |
6: 55,945,569 (GRCm39) |
D763E |
probably damaging |
Het |
| Kcnn2 |
T |
C |
18: 45,810,026 (GRCm39) |
V421A |
probably damaging |
Het |
| Micu2 |
A |
G |
14: 58,154,768 (GRCm39) |
V419A |
probably benign |
Het |
| Nek9 |
C |
T |
12: 85,350,383 (GRCm39) |
C897Y |
probably damaging |
Het |
| Ofcc1 |
A |
C |
13: 40,226,140 (GRCm39) |
H797Q |
probably benign |
Het |
| Or12d17 |
G |
A |
17: 37,777,300 (GRCm39) |
D68N |
probably damaging |
Het |
| Or2y16 |
C |
A |
11: 49,335,070 (GRCm39) |
H131N |
probably damaging |
Het |
| Or5m12 |
T |
C |
2: 85,735,285 (GRCm39) |
T38A |
probably benign |
Het |
| Or6c69c |
T |
G |
10: 129,911,125 (GRCm39) |
L282R |
probably damaging |
Het |
| Pakap |
C |
T |
4: 57,688,502 (GRCm39) |
T115M |
probably damaging |
Het |
| Papss1 |
G |
A |
3: 131,288,950 (GRCm39) |
G151S |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,943,780 (GRCm39) |
T1956A |
probably damaging |
Het |
| Pomt1 |
A |
G |
2: 32,143,724 (GRCm39) |
|
probably benign |
Het |
| Ppfibp2 |
T |
A |
7: 107,337,126 (GRCm39) |
Y570* |
probably null |
Het |
| Ppp1r9a |
A |
G |
6: 5,046,015 (GRCm39) |
E493G |
probably damaging |
Het |
| Ptk2b |
A |
G |
14: 66,406,870 (GRCm39) |
F621L |
probably benign |
Het |
| Ptpn13 |
G |
T |
5: 103,702,816 (GRCm39) |
D1261Y |
possibly damaging |
Het |
| Ptprd |
C |
T |
4: 75,977,966 (GRCm39) |
G181D |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,270,853 (GRCm39) |
T645A |
probably benign |
Het |
| Slc2a7 |
T |
C |
4: 150,252,797 (GRCm39) |
I479T |
probably damaging |
Het |
| Smc3 |
A |
G |
19: 53,602,273 (GRCm39) |
N40S |
probably damaging |
Het |
| Spata31 |
A |
T |
13: 65,067,587 (GRCm39) |
D83V |
probably benign |
Het |
| Sptb |
C |
T |
12: 76,630,330 (GRCm39) |
|
probably benign |
Het |
| Ssc4d |
A |
T |
5: 135,990,028 (GRCm39) |
C493* |
probably null |
Het |
| Styxl2 |
T |
C |
1: 165,927,017 (GRCm39) |
D865G |
probably benign |
Het |
| Ubr2 |
C |
A |
17: 47,262,844 (GRCm39) |
V1256L |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,803,490 (GRCm39) |
|
probably benign |
Het |
| Vmn2r105 |
C |
T |
17: 20,446,631 (GRCm39) |
W456* |
probably null |
Het |
| Vmn2r24 |
T |
A |
6: 123,793,070 (GRCm39) |
I799N |
probably damaging |
Het |
| Vps13b |
G |
A |
15: 35,917,316 (GRCm39) |
G3720D |
possibly damaging |
Het |
|
| Other mutations in Cenpc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00921:Cenpc1
|
APN |
5 |
86,185,387 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01287:Cenpc1
|
APN |
5 |
86,170,313 (GRCm39) |
nonsense |
probably null |
|
|
IGL01363:Cenpc1
|
APN |
5 |
86,194,390 (GRCm39) |
nonsense |
probably null |
|
|
IGL01720:Cenpc1
|
APN |
5 |
86,193,284 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02217:Cenpc1
|
APN |
5 |
86,177,059 (GRCm39) |
splice site |
probably benign |
|
|
IGL02665:Cenpc1
|
APN |
5 |
86,194,262 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03022:Cenpc1
|
APN |
5 |
86,170,234 (GRCm39) |
splice site |
probably benign |
|
|
IGL03162:Cenpc1
|
APN |
5 |
86,185,764 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0130:Cenpc1
|
UTSW |
5 |
86,194,405 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0193:Cenpc1
|
UTSW |
5 |
86,180,262 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0314:Cenpc1
|
UTSW |
5 |
86,185,230 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0932:Cenpc1
|
UTSW |
5 |
86,185,459 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0973:Cenpc1
|
UTSW |
5 |
86,185,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Cenpc1
|
UTSW |
5 |
86,185,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:Cenpc1
|
UTSW |
5 |
86,185,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1240:Cenpc1
|
UTSW |
5 |
86,183,369 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1454:Cenpc1
|
UTSW |
5 |
86,161,369 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1677:Cenpc1
|
UTSW |
5 |
86,209,857 (GRCm39) |
splice site |
probably benign |
|
|
R2044:Cenpc1
|
UTSW |
5 |
86,185,614 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2256:Cenpc1
|
UTSW |
5 |
86,164,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3085:Cenpc1
|
UTSW |
5 |
86,185,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4516:Cenpc1
|
UTSW |
5 |
86,195,446 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4518:Cenpc1
|
UTSW |
5 |
86,195,446 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4561:Cenpc1
|
UTSW |
5 |
86,195,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4827:Cenpc1
|
UTSW |
5 |
86,182,290 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4864:Cenpc1
|
UTSW |
5 |
86,193,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5222:Cenpc1
|
UTSW |
5 |
86,185,606 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5707:Cenpc1
|
UTSW |
5 |
86,183,293 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5920:Cenpc1
|
UTSW |
5 |
86,168,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5999:Cenpc1
|
UTSW |
5 |
86,160,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6073:Cenpc1
|
UTSW |
5 |
86,206,012 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6209:Cenpc1
|
UTSW |
5 |
86,181,509 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6244:Cenpc1
|
UTSW |
5 |
86,194,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6278:Cenpc1
|
UTSW |
5 |
86,183,394 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6395:Cenpc1
|
UTSW |
5 |
86,183,429 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7269:Cenpc1
|
UTSW |
5 |
86,180,277 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7269:Cenpc1
|
UTSW |
5 |
86,161,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7335:Cenpc1
|
UTSW |
5 |
86,182,212 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7378:Cenpc1
|
UTSW |
5 |
86,194,358 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7968:Cenpc1
|
UTSW |
5 |
86,181,551 (GRCm39) |
missense |
probably benign |
|
|
R8380:Cenpc1
|
UTSW |
5 |
86,194,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8780:Cenpc1
|
UTSW |
5 |
86,164,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8859:Cenpc1
|
UTSW |
5 |
86,160,153 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8982:Cenpc1
|
UTSW |
5 |
86,195,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9157:Cenpc1
|
UTSW |
5 |
86,166,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF018:Cenpc1
|
UTSW |
5 |
86,193,228 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2016-08-02 |
Incidental Mutation