Incidental Mutation 'R0314:Cenpc1'
| ID |
25367 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cenpc1
|
| Ensembl Gene |
ENSMUSG00000029253 |
| Gene Name |
centromere protein C1 |
| Synonyms |
|
| MMRRC Submission |
038524-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0314 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86159883-86213442 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86185230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 427
(M427K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031170]
|
| AlphaFold |
P49452 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031170
AA Change: M427K
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000031170
Gene: ENSMUSG00000029253
AA Change: M427K
| 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 |
0.1078 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.9%
- 20x: 88.7%
|
| Validation Efficiency |
100% (41/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arih2 |
T |
C |
9: 108,485,878 (GRCm39) |
N345D |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,514,095 (GRCm39) |
S298L |
possibly damaging |
Het |
| Cacna1e |
A |
G |
1: 154,317,997 (GRCm39) |
Y1462H |
probably damaging |
Het |
| Car9 |
T |
C |
4: 43,509,212 (GRCm39) |
|
probably null |
Het |
| Chl1 |
T |
A |
6: 103,624,262 (GRCm39) |
C57S |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,397,342 (GRCm39) |
Y77C |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,919,865 (GRCm39) |
K1187E |
possibly damaging |
Het |
| Fkbpl |
C |
T |
17: 34,865,026 (GRCm39) |
H265Y |
possibly damaging |
Het |
| Fmo1 |
T |
G |
1: 162,687,031 (GRCm39) |
E32A |
probably damaging |
Het |
| Fnip2 |
G |
A |
3: 79,388,496 (GRCm39) |
T715I |
probably damaging |
Het |
| Fzd6 |
T |
A |
15: 38,889,128 (GRCm39) |
I82K |
possibly damaging |
Het |
| Grm5 |
T |
C |
7: 87,252,163 (GRCm39) |
S138P |
probably damaging |
Het |
| Klra5 |
T |
C |
6: 129,880,553 (GRCm39) |
Y115C |
probably damaging |
Het |
| Lgr4 |
T |
C |
2: 109,821,438 (GRCm39) |
|
probably benign |
Het |
| Limd1 |
T |
G |
9: 123,345,892 (GRCm39) |
I557S |
probably benign |
Het |
| Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
| Neb |
A |
T |
2: 52,133,343 (GRCm39) |
D3398E |
probably benign |
Het |
| Nup155 |
T |
C |
15: 8,176,736 (GRCm39) |
S1005P |
probably benign |
Het |
| Or2v2 |
A |
T |
11: 49,004,519 (GRCm39) |
D11E |
possibly damaging |
Het |
| Or52a5b |
T |
C |
7: 103,417,388 (GRCm39) |
D72G |
probably damaging |
Het |
| Pebp4 |
G |
T |
14: 70,297,103 (GRCm39) |
S214I |
possibly damaging |
Het |
| Pex26 |
T |
C |
6: 121,161,443 (GRCm39) |
|
probably null |
Het |
| Rbbp8 |
A |
T |
18: 11,848,875 (GRCm39) |
Q230L |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
G |
A |
16: 73,753,525 (GRCm39) |
T784M |
probably damaging |
Het |
| Slc5a1 |
T |
C |
5: 33,303,995 (GRCm39) |
I270T |
probably benign |
Het |
| Spag4 |
C |
T |
2: 155,909,229 (GRCm39) |
|
probably benign |
Het |
| Stt3a |
T |
C |
9: 36,660,841 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,096,331 (GRCm39) |
E1430K |
possibly damaging |
Het |
| Timd5 |
G |
A |
11: 46,419,364 (GRCm39) |
C60Y |
probably damaging |
Het |
| Uba6 |
A |
T |
5: 86,265,946 (GRCm39) |
V956E |
probably damaging |
Het |
| Ube2j1 |
T |
A |
4: 33,043,991 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
G |
15: 37,997,431 (GRCm39) |
S1741P |
probably damaging |
Het |
| Vmn2r1 |
A |
G |
3: 63,993,980 (GRCm39) |
T109A |
probably damaging |
Het |
| Vmn2r60 |
T |
C |
7: 41,784,985 (GRCm39) |
|
probably benign |
Het |
| Vstm2a |
A |
G |
11: 16,318,388 (GRCm39) |
|
probably benign |
Het |
| Zdhhc20 |
T |
A |
14: 58,094,076 (GRCm39) |
K195N |
probably damaging |
Het |
| Zfp683 |
A |
G |
4: 133,786,052 (GRCm39) |
Y393C |
probably benign |
Het |
| Zzz3 |
T |
C |
3: 152,133,085 (GRCm39) |
S48P |
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 |
|
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 |
|
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'- CCAAGAATAACCCCAAAGGTGGGTC -3'
(R):5'- GAGGAAGCTCAGCTCTCTGTTGAAG -3'
Sequencing Primer
(F):5'- CCAAAGGTGGGTCAACCTTTAG -3'
(R):5'- GCTCAGCTCTCTGTTGAAGAAAAC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation