Incidental Mutation 'R4561:Cenpc1'
| ID |
343087 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cenpc1
|
| Ensembl Gene |
ENSMUSG00000029253 |
| Gene Name |
centromere protein C1 |
| Synonyms |
|
| MMRRC Submission |
041786-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4561 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
86159883-86213442 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 86195491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 93
(A93S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031170]
|
| AlphaFold |
P49452 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031170
AA Change: A93S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031170
Gene: ENSMUSG00000029253
AA Change: A93S
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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 |
|---|
| Ank3 |
T |
C |
10: 69,837,848 (GRCm39) |
S1601P |
probably damaging |
Het |
| Arnt |
A |
G |
3: 95,359,924 (GRCm39) |
N56D |
probably damaging |
Het |
| Atad5 |
A |
G |
11: 79,986,715 (GRCm39) |
T601A |
probably benign |
Het |
| Calr4 |
A |
G |
4: 109,103,379 (GRCm39) |
N163S |
probably damaging |
Het |
| Cep135 |
C |
T |
5: 76,786,040 (GRCm39) |
H1048Y |
possibly damaging |
Het |
| Ctnna2 |
A |
G |
6: 77,613,696 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
T |
C |
8: 62,395,495 (GRCm39) |
L144P |
probably damaging |
Het |
| Dera |
A |
T |
6: 137,757,736 (GRCm39) |
T96S |
possibly damaging |
Het |
| Dock9 |
T |
A |
14: 121,796,419 (GRCm39) |
M1853L |
probably benign |
Het |
| Erbb4 |
G |
A |
1: 68,383,080 (GRCm39) |
R306* |
probably null |
Het |
| Glyat |
G |
T |
19: 12,628,644 (GRCm39) |
L146F |
possibly damaging |
Het |
| Grk4 |
C |
A |
5: 34,852,157 (GRCm39) |
Q134K |
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,245,618 (GRCm39) |
Q181R |
probably benign |
Het |
| Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
| Ipo4 |
C |
T |
14: 55,867,546 (GRCm39) |
|
probably benign |
Het |
| Ivl |
CCTGCTGCTGCT |
CCTGCTGCTGCTGCT |
3: 92,479,262 (GRCm39) |
|
probably benign |
Het |
| Kcnd2 |
A |
G |
6: 21,216,395 (GRCm39) |
Q33R |
probably benign |
Het |
| Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
| Klhl30 |
A |
T |
1: 91,288,753 (GRCm39) |
H504L |
probably damaging |
Het |
| Map4 |
A |
G |
9: 109,881,439 (GRCm39) |
Y101C |
possibly damaging |
Het |
| Mfn2 |
C |
A |
4: 147,961,492 (GRCm39) |
R707L |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,911,438 (GRCm39) |
N1511D |
probably benign |
Het |
| Neb |
A |
T |
2: 52,176,167 (GRCm39) |
Y1431N |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,203,774 (GRCm39) |
T625A |
probably damaging |
Het |
| Or5g27 |
G |
T |
2: 85,409,964 (GRCm39) |
C127F |
probably damaging |
Het |
| Pax2 |
A |
G |
19: 44,824,402 (GRCm39) |
Y374C |
unknown |
Het |
| Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,604,943 (GRCm39) |
L1124Q |
possibly damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,754,681 (GRCm39) |
F189L |
probably damaging |
Het |
| Prex2 |
G |
A |
1: 11,254,769 (GRCm39) |
|
probably null |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Slc22a22 |
T |
A |
15: 57,126,781 (GRCm39) |
Q77L |
probably damaging |
Het |
| Slc24a2 |
A |
T |
4: 87,145,634 (GRCm39) |
V140D |
probably damaging |
Het |
| Slc35g2 |
C |
A |
9: 100,435,287 (GRCm39) |
R128L |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
| Spag7 |
T |
C |
11: 70,555,816 (GRCm39) |
I80M |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,758,015 (GRCm39) |
M164T |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,452,468 (GRCm39) |
|
probably null |
Het |
| Tcte2 |
T |
C |
17: 13,942,864 (GRCm39) |
|
probably benign |
Het |
| Tmem117 |
A |
T |
15: 94,992,677 (GRCm39) |
M446L |
probably benign |
Het |
| Tmtc4 |
T |
C |
14: 123,200,710 (GRCm39) |
T194A |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,016,562 (GRCm39) |
Y1269C |
probably damaging |
Het |
| Zfp236 |
A |
T |
18: 82,638,531 (GRCm39) |
I1363N |
probably damaging |
Het |
| Zfp760 |
T |
A |
17: 21,942,648 (GRCm39) |
S608T |
probably benign |
Het |
| Zfp947 |
G |
T |
17: 22,365,124 (GRCm39) |
Y183* |
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATTCCCAACAAAATGATGGAAGC -3'
(R):5'- ATGCAATGTCCCAGCCTTTG -3'
Sequencing Primer
(F):5'- TGAGTCTATCAGCTCAAAGAGAATAG -3'
(R):5'- GCAATGTCCCAGCCTTTGTTAATTTC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation