Incidental Mutation 'IGL01720:Cenpc1'
| ID |
105061 |
| 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 # |
IGL01720
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
86159883-86213442 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86193284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 202
(S202P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031170]
|
| AlphaFold |
P49452 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031170
AA Change: S202P
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031170
Gene: ENSMUSG00000029253
AA Change: S202P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198059
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199392
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
G |
A |
6: 85,605,076 (GRCm39) |
R1773Q |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,150,333 (GRCm39) |
S1796P |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,658,382 (GRCm39) |
I2131F |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,938,847 (GRCm39) |
D833E |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,414,583 (GRCm39) |
E178G |
probably benign |
Het |
| Cenpf |
T |
C |
1: 189,383,412 (GRCm39) |
Y2636C |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,460,557 (GRCm39) |
D1173G |
probably benign |
Het |
| Chkb |
C |
T |
15: 89,312,155 (GRCm39) |
|
probably null |
Het |
| Cldn20 |
A |
G |
17: 3,583,375 (GRCm39) |
T183A |
probably benign |
Het |
| Cpne8 |
C |
T |
15: 90,385,703 (GRCm39) |
V442I |
probably benign |
Het |
| Cx3cl1 |
T |
A |
8: 95,504,701 (GRCm39) |
M39K |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,864,487 (GRCm39) |
L124Q |
probably damaging |
Het |
| Duxf4 |
A |
C |
10: 58,072,211 (GRCm39) |
M1R |
probably null |
Het |
| Fam180a |
T |
C |
6: 35,290,500 (GRCm39) |
H161R |
probably benign |
Het |
| Galt |
C |
A |
4: 41,757,463 (GRCm39) |
R212S |
probably damaging |
Het |
| Gja10 |
T |
C |
4: 32,601,007 (GRCm39) |
D459G |
probably benign |
Het |
| Glb1 |
T |
C |
9: 114,249,573 (GRCm39) |
|
probably null |
Het |
| Gm5709 |
A |
T |
3: 59,513,975 (GRCm39) |
|
noncoding transcript |
Het |
| Igf2r |
A |
G |
17: 12,920,200 (GRCm39) |
Y1380H |
probably damaging |
Het |
| Jag1 |
C |
T |
2: 136,929,023 (GRCm39) |
G811D |
probably damaging |
Het |
| Lrguk |
T |
C |
6: 34,020,412 (GRCm39) |
F52S |
probably damaging |
Het |
| Lrrc15 |
A |
T |
16: 30,092,138 (GRCm39) |
N400K |
probably benign |
Het |
| Map3k12 |
A |
G |
15: 102,410,621 (GRCm39) |
|
probably benign |
Het |
| Mbnl2 |
C |
T |
14: 120,562,682 (GRCm39) |
T11I |
probably damaging |
Het |
| Mettl22 |
T |
C |
16: 8,302,117 (GRCm39) |
|
probably benign |
Het |
| Mgat4a |
G |
A |
1: 37,483,979 (GRCm39) |
A497V |
probably damaging |
Het |
| Mrpl49 |
C |
A |
19: 6,105,187 (GRCm39) |
M91I |
possibly damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,416 (GRCm39) |
D84E |
probably damaging |
Het |
| Or2q1 |
G |
A |
6: 42,794,527 (GRCm39) |
V41I |
probably benign |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
| Ppp1r13b |
T |
C |
12: 111,824,694 (GRCm39) |
T102A |
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,423,410 (GRCm39) |
|
probably benign |
Het |
| Prodh2 |
A |
G |
7: 30,210,628 (GRCm39) |
D393G |
probably damaging |
Het |
| Pyroxd1 |
A |
G |
6: 142,296,784 (GRCm39) |
|
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,759,366 (GRCm39) |
C554S |
possibly damaging |
Het |
| Rapgef5 |
T |
C |
12: 117,577,055 (GRCm39) |
|
probably benign |
Het |
| Setdb2 |
A |
G |
14: 59,660,885 (GRCm39) |
V86A |
possibly damaging |
Het |
| Slc38a2 |
A |
T |
15: 96,589,092 (GRCm39) |
|
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,376,132 (GRCm39) |
Y406C |
probably damaging |
Het |
| Slit1 |
T |
C |
19: 41,622,653 (GRCm39) |
D702G |
probably benign |
Het |
| Stat3 |
T |
C |
11: 100,794,484 (GRCm39) |
H275R |
possibly damaging |
Het |
| Susd5 |
T |
A |
9: 113,893,052 (GRCm39) |
N43K |
possibly damaging |
Het |
| Ttc3 |
A |
T |
16: 94,186,228 (GRCm39) |
K124N |
probably damaging |
Het |
| Usp36 |
C |
A |
11: 118,165,828 (GRCm39) |
R165L |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,619,798 (GRCm39) |
R1492Q |
possibly damaging |
Het |
| Zbed6 |
A |
G |
1: 133,585,264 (GRCm39) |
V691A |
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 |
|
|
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 |
|
IGL03343:Cenpc1
|
APN |
5 |
86,164,181 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
2014-01-21 |
Incidental Mutation