Incidental Mutation 'R0974:Cenpc1'
| ID |
83007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cenpc1
|
| Ensembl Gene |
ENSMUSG00000029253 |
| Gene Name |
centromere protein C1 |
| Synonyms |
|
| MMRRC Submission |
039103-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0974 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
86159883-86213442 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86185767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 248
(V248E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031170]
|
| AlphaFold |
P49452 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031170
AA Change: V248E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031170
Gene: ENSMUSG00000029253
AA Change: V248E
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.5%
- 20x: 91.9%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
T |
A |
18: 70,600,997 (GRCm39) |
|
probably null |
Het |
| Adam18 |
T |
C |
8: 25,137,869 (GRCm39) |
T324A |
probably benign |
Het |
| AI429214 |
A |
G |
8: 37,461,473 (GRCm39) |
Q207R |
probably benign |
Het |
| Atp13a1 |
T |
C |
8: 70,254,794 (GRCm39) |
|
probably null |
Het |
| Atp6v0a1 |
T |
A |
11: 100,946,317 (GRCm39) |
L770* |
probably null |
Het |
| B3gnt5 |
T |
A |
16: 19,588,760 (GRCm39) |
D326E |
probably damaging |
Het |
| Btbd9 |
T |
A |
17: 30,518,607 (GRCm39) |
D451V |
probably damaging |
Het |
| Cd46 |
T |
C |
1: 194,724,300 (GRCm39) |
*366W |
probably null |
Het |
| Cdcp3 |
T |
C |
7: 130,839,911 (GRCm39) |
L611P |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,128,412 (GRCm39) |
S858P |
probably damaging |
Het |
| Cxcl1 |
A |
T |
5: 91,039,626 (GRCm39) |
K85* |
probably null |
Het |
| Daam1 |
A |
C |
12: 71,962,558 (GRCm39) |
K90T |
unknown |
Het |
| Dip2c |
G |
A |
13: 9,626,944 (GRCm39) |
A632T |
probably damaging |
Het |
| Dmtf1 |
T |
A |
5: 9,177,987 (GRCm39) |
I391F |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,579,710 (GRCm39) |
V3081A |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,896,663 (GRCm39) |
|
probably null |
Het |
| Efemp1 |
A |
G |
11: 28,804,538 (GRCm39) |
E22G |
probably damaging |
Het |
| Ephb6 |
A |
G |
6: 41,591,038 (GRCm39) |
D65G |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,807,436 (GRCm39) |
T1252S |
probably benign |
Het |
| Golga4 |
T |
C |
9: 118,366,341 (GRCm39) |
I365T |
probably damaging |
Het |
| Gp2 |
A |
T |
7: 119,053,766 (GRCm39) |
L65Q |
probably damaging |
Het |
| Ice1 |
C |
A |
13: 70,750,546 (GRCm39) |
V1847L |
probably benign |
Het |
| Kbtbd7 |
A |
G |
14: 79,664,870 (GRCm39) |
E234G |
possibly damaging |
Het |
| Khsrp |
T |
C |
17: 57,332,576 (GRCm39) |
T235A |
probably benign |
Het |
| Klk13 |
T |
C |
7: 43,370,582 (GRCm39) |
|
probably null |
Het |
| Lrfn5 |
G |
A |
12: 61,890,223 (GRCm39) |
G504D |
probably damaging |
Het |
| Map6 |
G |
A |
7: 98,985,950 (GRCm39) |
G821D |
possibly damaging |
Het |
| Myh13 |
T |
A |
11: 67,223,346 (GRCm39) |
I222N |
probably damaging |
Het |
| Myh7b |
G |
A |
2: 155,462,347 (GRCm39) |
C350Y |
probably benign |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Olfm3 |
C |
A |
3: 114,895,635 (GRCm39) |
S172R |
probably benign |
Het |
| Or13e8 |
A |
G |
4: 43,696,706 (GRCm39) |
S156P |
probably damaging |
Het |
| Or1j14 |
A |
G |
2: 36,418,020 (GRCm39) |
I199V |
probably benign |
Het |
| Or4c1 |
A |
T |
2: 89,133,528 (GRCm39) |
I136N |
probably damaging |
Het |
| Or5d40 |
A |
T |
2: 88,015,322 (GRCm39) |
T34S |
probably benign |
Het |
| Pacs1 |
A |
T |
19: 5,193,857 (GRCm39) |
D557E |
probably damaging |
Het |
| Phactr2 |
T |
C |
10: 13,122,883 (GRCm39) |
D343G |
possibly damaging |
Het |
| Pkd2l2 |
A |
G |
18: 34,561,305 (GRCm39) |
T438A |
probably damaging |
Het |
| Pld2 |
T |
C |
11: 70,447,907 (GRCm39) |
W857R |
probably damaging |
Het |
| Rilpl1 |
A |
G |
5: 124,639,951 (GRCm39) |
I122T |
possibly damaging |
Het |
| Rilpl1 |
A |
G |
5: 124,639,934 (GRCm39) |
S156P |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Saxo2 |
A |
G |
7: 82,284,078 (GRCm39) |
V260A |
probably benign |
Het |
| Slc33a1 |
A |
G |
3: 63,850,725 (GRCm39) |
F533S |
probably benign |
Het |
| Slc38a4 |
C |
T |
15: 96,903,739 (GRCm39) |
V421M |
probably benign |
Het |
| Snx14 |
A |
G |
9: 88,282,774 (GRCm39) |
|
probably null |
Het |
| Sri |
A |
T |
5: 8,109,381 (GRCm39) |
Q55L |
probably damaging |
Het |
| Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
| Tm9sf1 |
T |
C |
14: 55,880,392 (GRCm39) |
T2A |
possibly damaging |
Het |
| Tmco5 |
A |
G |
2: 116,713,699 (GRCm39) |
T122A |
probably benign |
Het |
| Tmem59l |
G |
A |
8: 70,938,710 (GRCm39) |
P124S |
possibly damaging |
Het |
| Trpv6 |
T |
A |
6: 41,602,122 (GRCm39) |
T396S |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,228,276 (GRCm39) |
Y780* |
probably null |
Het |
| Usp24 |
A |
G |
4: 106,270,875 (GRCm39) |
|
probably null |
Het |
| Utp25 |
A |
T |
1: 192,797,011 (GRCm39) |
N573K |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,335,319 (GRCm39) |
F114L |
probably damaging |
Het |
| Zfp626 |
G |
A |
7: 27,517,907 (GRCm39) |
R296H |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGCAGTGCAGTGTTTTCAGGA -3'
(R):5'- CATTTGACATCTGTGCATTTGGTGCTAT -3'
Sequencing Primer
(F):5'- GCAGTGTTTTCAGGAGATGGC -3'
(R):5'- GGGCATTAAAGTAGATACCCAGC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation