Incidental Mutation 'R4516:Cenpc1'
| ID |
332908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cenpc1
|
| Ensembl Gene |
ENSMUSG00000029253 |
| Gene Name |
centromere protein C1 |
| Synonyms |
|
| MMRRC Submission |
041760-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4516 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86159883-86213442 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86195446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 108
(S108P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031170]
|
| AlphaFold |
P49452 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031170
AA Change: S108P
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000031170
Gene: ENSMUSG00000029253
AA Change: S108P
| 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
|
| Meta Mutation Damage Score |
0.0715 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 92.9%
|
| Validation Efficiency |
86% (51/59) |
| 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 |
|---|
| Bean1 |
T |
C |
8: 104,941,786 (GRCm39) |
S211P |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 36,949,460 (GRCm39) |
S369P |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,229,177 (GRCm39) |
S552P |
possibly damaging |
Het |
| Cdh11 |
T |
C |
8: 103,400,594 (GRCm39) |
T125A |
possibly damaging |
Het |
| Cdk5rap2 |
A |
T |
4: 70,194,952 (GRCm39) |
|
probably null |
Het |
| Cfap20dc |
A |
T |
14: 8,536,609 (GRCm38) |
D199E |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,294,227 (GRCm39) |
Y224* |
probably null |
Het |
| Cfap46 |
G |
A |
7: 139,239,998 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
G |
A |
2: 35,017,993 (GRCm39) |
V468I |
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,576,148 (GRCm39) |
V2071I |
possibly damaging |
Het |
| Coq7 |
A |
T |
7: 118,109,130 (GRCm39) |
L306Q |
unknown |
Het |
| D7Ertd443e |
C |
G |
7: 133,895,057 (GRCm39) |
Q591H |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,404,059 (GRCm39) |
V2828M |
probably damaging |
Het |
| Dzank1 |
T |
A |
2: 144,352,042 (GRCm39) |
|
probably benign |
Het |
| Elmo1 |
C |
T |
13: 20,467,084 (GRCm39) |
T235I |
probably benign |
Het |
| Elp3 |
A |
T |
14: 65,785,326 (GRCm39) |
F492I |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,231,671 (GRCm39) |
S90G |
probably benign |
Het |
| Fbxl20 |
T |
C |
11: 97,986,061 (GRCm39) |
|
probably benign |
Het |
| Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
| Got1 |
T |
C |
19: 43,493,280 (GRCm39) |
Y243C |
probably damaging |
Het |
| Hipk1 |
G |
T |
3: 103,657,688 (GRCm39) |
H799N |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,855,345 (GRCm39) |
M673K |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,628,415 (GRCm39) |
D1502E |
probably damaging |
Het |
| Limk1 |
A |
G |
5: 134,705,640 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,758,745 (GRCm39) |
Y242C |
probably damaging |
Het |
| Naa12 |
G |
A |
18: 80,254,791 (GRCm39) |
M28I |
probably benign |
Het |
| Ncbp1 |
T |
C |
4: 46,157,824 (GRCm39) |
V354A |
probably damaging |
Het |
| Ncoa2 |
T |
C |
1: 13,217,130 (GRCm39) |
D1380G |
probably damaging |
Het |
| Ntng1 |
A |
G |
3: 109,842,329 (GRCm39) |
I148T |
probably damaging |
Het |
| Oas1d |
A |
T |
5: 121,057,233 (GRCm39) |
T280S |
probably damaging |
Het |
| Or1e29 |
C |
T |
11: 73,667,866 (GRCm39) |
G96S |
probably benign |
Het |
| Or4c15b |
T |
A |
2: 89,113,187 (GRCm39) |
M118L |
probably benign |
Het |
| Pax7 |
T |
G |
4: 139,508,104 (GRCm39) |
D307A |
probably benign |
Het |
| Pdxdc1 |
G |
A |
16: 13,656,210 (GRCm39) |
Q621* |
probably null |
Het |
| Rab29 |
A |
T |
1: 131,795,469 (GRCm39) |
Y27F |
possibly damaging |
Het |
| Rab3gap2 |
G |
A |
1: 184,999,265 (GRCm39) |
V991I |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,548,165 (GRCm39) |
T278A |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc47a1 |
T |
C |
11: 61,235,339 (GRCm39) |
H498R |
probably benign |
Het |
| Spmip6 |
T |
C |
4: 41,517,200 (GRCm39) |
|
probably benign |
Het |
| Tas2r116 |
T |
C |
6: 132,833,113 (GRCm39) |
L238P |
probably damaging |
Het |
| Tigd5 |
A |
T |
15: 75,782,364 (GRCm39) |
R252* |
probably null |
Het |
| Tlr6 |
A |
G |
5: 65,112,247 (GRCm39) |
F220S |
possibly damaging |
Het |
| Tmem106b |
C |
T |
6: 13,075,098 (GRCm39) |
T95I |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn1r174 |
A |
G |
7: 23,453,768 (GRCm39) |
I145V |
probably benign |
Het |
| Vps26a |
T |
C |
10: 62,304,124 (GRCm39) |
M116V |
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 |
|
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 |
|
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'- TTCCCAACAAAATGATGGAAGC -3'
(R):5'- ATGCAATGTCCCAGCCTTTG -3'
Sequencing Primer
(F):5'- TGAGTCTATCAGCTCAAAGAGAATAG -3'
(R):5'- GCAATGTCCCAGCCTTTGTTAATTTC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation