Incidental Mutation 'R8982:Cenpc1'
| ID |
683771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cenpc1
|
| Ensembl Gene |
ENSMUSG00000029253 |
| Gene Name |
centromere protein C1 |
| Synonyms |
|
| MMRRC Submission |
068815-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8982 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
86159883-86213442 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86195533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 79
(S79P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031170]
|
| AlphaFold |
P49452 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031170
AA Change: S79P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031170
Gene: ENSMUSG00000029253
AA Change: S79P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
A |
G |
1: 78,677,485 (GRCm39) |
N493S |
probably benign |
Het |
| Actg2 |
T |
C |
6: 83,497,697 (GRCm39) |
D185G |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,748,750 (GRCm39) |
N1439S |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,293,316 (GRCm39) |
S745T |
probably damaging |
Het |
| Atxn2l |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
7: 126,093,420 (GRCm39) |
|
probably benign |
Het |
| C4b |
A |
G |
17: 34,953,338 (GRCm39) |
|
probably null |
Het |
| Cep295nl |
A |
T |
11: 118,224,671 (GRCm39) |
W58R |
probably damaging |
Het |
| Ces2f |
T |
A |
8: 105,679,667 (GRCm39) |
C387S |
probably benign |
Het |
| Cfap74 |
G |
A |
4: 155,521,187 (GRCm39) |
E620K |
|
Het |
| Ckap5 |
T |
C |
2: 91,437,923 (GRCm39) |
V1668A |
possibly damaging |
Het |
| Clock |
A |
G |
5: 76,364,559 (GRCm39) |
V852A |
unknown |
Het |
| Col22a1 |
A |
G |
15: 71,845,487 (GRCm39) |
|
probably null |
Het |
| Copb2 |
T |
C |
9: 98,456,164 (GRCm39) |
S233P |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,536,294 (GRCm39) |
Y684C |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,570,301 (GRCm39) |
E1835G |
probably benign |
Het |
| F830045P16Rik |
T |
A |
2: 129,314,812 (GRCm39) |
Q155L |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,729,895 (GRCm39) |
D36G |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,466,305 (GRCm39) |
V2412A |
probably benign |
Het |
| Hoxa13 |
T |
A |
6: 52,235,916 (GRCm39) |
K210* |
probably null |
Het |
| Hoxc5 |
T |
C |
15: 102,923,740 (GRCm39) |
Y179H |
probably damaging |
Het |
| Hrob |
G |
A |
11: 102,146,110 (GRCm39) |
A129T |
probably benign |
Het |
| Htr1d |
A |
T |
4: 136,170,866 (GRCm39) |
Q365L |
possibly damaging |
Het |
| Krt72 |
C |
T |
15: 101,690,059 (GRCm39) |
V253M |
possibly damaging |
Het |
| Mecom |
G |
A |
3: 30,017,255 (GRCm39) |
T470I |
probably damaging |
Het |
| Nefh |
G |
A |
11: 4,897,549 (GRCm39) |
A129V |
probably damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,327,978 (GRCm39) |
I692F |
probably damaging |
Het |
| Nr6a1 |
T |
A |
2: 38,762,613 (GRCm39) |
I61L |
probably benign |
Het |
| Or10aa1 |
T |
G |
1: 173,870,188 (GRCm39) |
V224G |
probably damaging |
Het |
| Or10j2 |
G |
A |
1: 173,098,306 (GRCm39) |
C188Y |
probably damaging |
Het |
| Or5d18 |
A |
T |
2: 87,864,613 (GRCm39) |
I290K |
probably damaging |
Het |
| Pck1 |
T |
C |
2: 172,999,112 (GRCm39) |
V426A |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,387,069 (GRCm39) |
L1314* |
probably null |
Het |
| Pogz |
G |
A |
3: 94,786,879 (GRCm39) |
V1156M |
probably damaging |
Het |
| Pramel23 |
T |
G |
4: 143,424,886 (GRCm39) |
I186L |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,102,134 (GRCm39) |
C736S |
probably damaging |
Het |
| Psg18 |
T |
A |
7: 18,083,300 (GRCm39) |
H285L |
probably benign |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,436,138 (GRCm39) |
D833V |
probably damaging |
Het |
| Rfx6 |
G |
A |
10: 51,599,915 (GRCm39) |
V554M |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,027,511 (GRCm39) |
T312A |
probably benign |
Het |
| Slfn5 |
G |
A |
11: 82,850,966 (GRCm39) |
W421* |
probably null |
Het |
| Srcin1 |
A |
G |
11: 97,426,624 (GRCm39) |
I291T |
probably damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,658,069 (GRCm39) |
N15D |
probably damaging |
Het |
| Tmem179 |
A |
T |
12: 112,468,301 (GRCm39) |
L193Q |
probably damaging |
Het |
| Tmem200b |
T |
A |
4: 131,649,668 (GRCm39) |
L196Q |
probably damaging |
Het |
| Trim71 |
T |
C |
9: 114,342,804 (GRCm39) |
T493A |
possibly damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,263,001 (GRCm39) |
|
probably null |
Het |
| Zbtb47 |
A |
G |
9: 121,592,334 (GRCm39) |
E218G |
probably benign |
Het |
| Zbtb7c |
G |
A |
18: 76,279,344 (GRCm39) |
G601S |
probably damaging |
Het |
| Zdhhc3 |
A |
G |
9: 122,929,578 (GRCm39) |
L19P |
probably benign |
Het |
| Zfp385b |
G |
T |
2: 77,242,300 (GRCm39) |
T473K |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,066,172 (GRCm39) |
K48E |
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 |
|
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 |
|
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'- TGCAATGTCCCAGCCTTTG -3'
Sequencing Primer
(F):5'- TGAGTCTATCAGCTCAAAGAGAATAG -3'
(R):5'- GCAATGTCCCAGCCTTTGTTAATTTC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation