Incidental Mutation 'R6278:Cenpc1'
| ID |
507772 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cenpc1
|
| Ensembl Gene |
ENSMUSG00000029253 |
| Gene Name |
centromere protein C1 |
| Synonyms |
|
| MMRRC Submission |
044448-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6278 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86159883-86213442 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86183394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 465
(K465R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031170]
|
| AlphaFold |
P49452 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031170
AA Change: K465R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031170
Gene: ENSMUSG00000029253
AA Change: K465R
| 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 |
0.0823 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
| Validation Efficiency |
100% (49/49) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
T |
C |
7: 119,373,072 (GRCm39) |
S192P |
probably damaging |
Het |
| Amy1 |
T |
A |
3: 113,355,339 (GRCm39) |
Y348F |
probably damaging |
Het |
| Brpf3 |
C |
A |
17: 29,040,258 (GRCm39) |
P893H |
probably benign |
Het |
| Cage1 |
T |
C |
13: 38,200,395 (GRCm39) |
T702A |
possibly damaging |
Het |
| Cdk11b |
A |
G |
4: 155,734,060 (GRCm39) |
|
probably benign |
Het |
| Cdk5rap3 |
T |
C |
11: 96,802,729 (GRCm39) |
Y207C |
probably damaging |
Het |
| Cldn14 |
A |
C |
16: 93,716,486 (GRCm39) |
L120R |
possibly damaging |
Het |
| Cyp2c69 |
A |
T |
19: 39,831,507 (GRCm39) |
C435* |
probably null |
Het |
| Dmxl2 |
T |
A |
9: 54,323,046 (GRCm39) |
E1446V |
probably damaging |
Het |
| Dnah17 |
T |
A |
11: 118,017,116 (GRCm39) |
D208V |
probably damaging |
Het |
| Eif4g3 |
G |
T |
4: 137,915,394 (GRCm39) |
G1430V |
possibly damaging |
Het |
| Eif5 |
T |
A |
12: 111,509,227 (GRCm39) |
D284E |
probably benign |
Het |
| Fam47e |
T |
C |
5: 92,710,376 (GRCm39) |
L125P |
probably damaging |
Het |
| Far1 |
A |
G |
7: 113,167,344 (GRCm39) |
I476M |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,819,242 (GRCm39) |
I4992L |
probably benign |
Het |
| Gli3 |
T |
A |
13: 15,899,698 (GRCm39) |
N1028K |
possibly damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,004,941 (GRCm39) |
K615E |
probably damaging |
Het |
| Gykl1 |
G |
T |
18: 52,828,280 (GRCm39) |
S496I |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,573,170 (GRCm39) |
|
probably null |
Het |
| Itga2 |
T |
A |
13: 114,982,424 (GRCm39) |
H1027L |
probably benign |
Het |
| Kif24 |
A |
T |
4: 41,423,498 (GRCm39) |
V251E |
probably damaging |
Het |
| Nupr1 |
T |
C |
7: 126,224,518 (GRCm39) |
Y30C |
probably damaging |
Het |
| Or5b119 |
T |
A |
19: 13,457,119 (GRCm39) |
M148L |
probably benign |
Het |
| Or5g29 |
A |
G |
2: 85,421,342 (GRCm39) |
I153V |
probably benign |
Het |
| Or5w14 |
A |
T |
2: 87,541,815 (GRCm39) |
L145* |
probably null |
Het |
| Or8g26 |
T |
A |
9: 39,095,594 (GRCm39) |
I40N |
probably damaging |
Het |
| P2ry1 |
T |
A |
3: 60,911,215 (GRCm39) |
I118N |
possibly damaging |
Het |
| Pcdh1 |
C |
T |
18: 38,332,263 (GRCm39) |
V247M |
probably benign |
Het |
| Pdia5 |
A |
G |
16: 35,250,293 (GRCm39) |
V222A |
possibly damaging |
Het |
| Plce1 |
G |
A |
19: 38,713,495 (GRCm39) |
|
probably null |
Het |
| Ppm1m |
T |
C |
9: 106,074,427 (GRCm39) |
R239G |
probably damaging |
Het |
| Pramel30 |
C |
T |
4: 144,056,837 (GRCm39) |
P7S |
probably damaging |
Het |
| Prkcz |
A |
T |
4: 155,352,652 (GRCm39) |
F492I |
probably damaging |
Het |
| Rpl6 |
T |
C |
5: 121,346,912 (GRCm39) |
I269T |
possibly damaging |
Het |
| Scoc |
T |
C |
8: 84,184,965 (GRCm39) |
S2G |
unknown |
Het |
| Spesp1 |
A |
T |
9: 62,179,921 (GRCm39) |
M329K |
probably benign |
Het |
| Ston2 |
T |
C |
12: 91,615,104 (GRCm39) |
K435E |
probably damaging |
Het |
| Synj2 |
A |
T |
17: 6,026,149 (GRCm39) |
L69F |
probably damaging |
Het |
| Tigd5 |
T |
C |
15: 75,781,842 (GRCm39) |
I68T |
probably damaging |
Het |
| Tmcc2 |
A |
T |
1: 132,286,720 (GRCm39) |
M577K |
probably damaging |
Het |
| Tmem131l |
A |
T |
3: 83,849,798 (GRCm39) |
I263N |
possibly damaging |
Het |
| Trip13 |
T |
C |
13: 74,061,439 (GRCm39) |
E408G |
probably benign |
Het |
| Txnl4b |
T |
C |
8: 110,295,735 (GRCm39) |
|
probably null |
Het |
| Ube2o |
T |
C |
11: 116,430,369 (GRCm39) |
E1123G |
probably damaging |
Het |
| Vmn1r123 |
A |
G |
7: 20,896,774 (GRCm39) |
H222R |
possibly damaging |
Het |
| Vmn2r73 |
G |
T |
7: 85,522,140 (GRCm39) |
H66Q |
probably benign |
Het |
| Zc3h13 |
T |
A |
14: 75,567,863 (GRCm39) |
V1052D |
probably benign |
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 |
|
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 |
|
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'- GAATGACTGTAGGGACCCTTC -3'
(R):5'- CAGGTACACACATTCCTCTTTTAG -3'
Sequencing Primer
(F):5'- TGACTGTAGGGACCCTTCAATAAAG -3'
(R):5'- TTAGTTTATGACAAGCAGTGAGC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation