Incidental Mutation 'IGL03162:Cenpc1'
ID |
411460 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cenpc1
|
Ensembl Gene |
ENSMUSG00000029253 |
Gene Name |
centromere protein C1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03162
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
86159883-86213442 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86185764 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 249
(V249A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031170
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031170]
|
AlphaFold |
P49452 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031170
AA Change: V249A
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000031170 Gene: ENSMUSG00000029253 AA Change: V249A
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 |
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
T |
A |
15: 60,791,581 (GRCm39) |
D92V |
probably damaging |
Het |
Acsl3 |
T |
C |
1: 78,676,887 (GRCm39) |
|
probably null |
Het |
Adam5 |
T |
C |
8: 25,271,620 (GRCm39) |
T596A |
probably benign |
Het |
Adh6a |
T |
A |
3: 138,034,880 (GRCm39) |
Y336* |
probably null |
Het |
Ak3 |
A |
T |
19: 29,000,236 (GRCm39) |
V225D |
possibly damaging |
Het |
Aldh1a7 |
T |
A |
19: 20,685,645 (GRCm39) |
I302F |
probably benign |
Het |
Amdhd1 |
T |
C |
10: 93,367,337 (GRCm39) |
|
probably null |
Het |
Arhgef18 |
G |
A |
8: 3,491,301 (GRCm39) |
|
probably null |
Het |
Caap1 |
A |
T |
4: 94,389,261 (GRCm39) |
|
probably benign |
Het |
Cdhr4 |
G |
A |
9: 107,875,210 (GRCm39) |
G70D |
probably damaging |
Het |
Celsr3 |
T |
C |
9: 108,719,757 (GRCm39) |
F2445S |
probably damaging |
Het |
Clca3a2 |
C |
A |
3: 144,512,177 (GRCm39) |
V80F |
probably damaging |
Het |
Col6a1 |
T |
A |
10: 76,553,885 (GRCm39) |
|
probably benign |
Het |
Commd10 |
T |
A |
18: 47,220,117 (GRCm39) |
L198Q |
probably damaging |
Het |
Cyp2d40 |
A |
G |
15: 82,644,243 (GRCm39) |
L294P |
unknown |
Het |
E2f6 |
T |
A |
12: 16,868,909 (GRCm39) |
D77E |
probably benign |
Het |
Elf5 |
T |
A |
2: 103,260,751 (GRCm39) |
H38Q |
possibly damaging |
Het |
Entrep1 |
T |
G |
19: 23,965,824 (GRCm39) |
H225P |
probably damaging |
Het |
Fcrl6 |
A |
G |
1: 172,425,820 (GRCm39) |
V227A |
probably damaging |
Het |
Fhip2b |
G |
T |
14: 70,824,994 (GRCm39) |
D447E |
probably damaging |
Het |
Gabarapl2 |
T |
A |
8: 112,669,168 (GRCm39) |
V42D |
probably benign |
Het |
Gm3543 |
A |
G |
14: 41,802,022 (GRCm39) |
I154T |
possibly damaging |
Het |
Gpr150 |
T |
A |
13: 76,204,950 (GRCm39) |
|
probably benign |
Het |
Gstp3 |
A |
G |
19: 4,109,255 (GRCm39) |
|
probably benign |
Het |
Gzmm |
C |
T |
10: 79,528,790 (GRCm39) |
T64I |
probably damaging |
Het |
Hs3st1 |
T |
A |
5: 39,771,792 (GRCm39) |
K284* |
probably null |
Het |
Ints7 |
A |
G |
1: 191,353,524 (GRCm39) |
|
probably benign |
Het |
Itih2 |
A |
T |
2: 10,131,055 (GRCm39) |
I94N |
probably damaging |
Het |
Kif26b |
A |
G |
1: 178,744,497 (GRCm39) |
N1531S |
probably benign |
Het |
Kif27 |
T |
C |
13: 58,459,021 (GRCm39) |
S937G |
probably benign |
Het |
Klhl2 |
A |
G |
8: 65,207,426 (GRCm39) |
V311A |
probably damaging |
Het |
Klrb1b |
T |
A |
6: 128,795,892 (GRCm39) |
Q109L |
probably null |
Het |
Lrig2 |
A |
G |
3: 104,371,613 (GRCm39) |
F697L |
probably damaging |
Het |
Lrrc66 |
T |
C |
5: 73,764,725 (GRCm39) |
R773G |
probably benign |
Het |
Mrgpra2b |
C |
T |
7: 47,113,815 (GRCm39) |
V306I |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,368,463 (GRCm39) |
H1127R |
probably benign |
Het |
Nr3c2 |
A |
T |
8: 77,944,213 (GRCm39) |
D816V |
probably damaging |
Het |
Ntmt2 |
T |
A |
1: 163,530,783 (GRCm39) |
I219L |
probably damaging |
Het |
Or10a3 |
T |
C |
7: 108,480,811 (GRCm39) |
M1V |
probably null |
Het |
Or5w19 |
A |
C |
2: 87,698,484 (GRCm39) |
M50L |
probably benign |
Het |
Pdxdc1 |
A |
G |
16: 13,675,281 (GRCm39) |
L350P |
probably damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Pnpla7 |
T |
C |
2: 24,905,301 (GRCm39) |
|
probably benign |
Het |
Ppan |
T |
G |
9: 20,802,608 (GRCm39) |
L283R |
probably damaging |
Het |
Rbfox3 |
A |
C |
11: 118,387,257 (GRCm39) |
S286A |
probably benign |
Het |
Rbl2 |
A |
G |
8: 91,812,330 (GRCm39) |
T273A |
probably benign |
Het |
Recql4 |
G |
T |
15: 76,590,296 (GRCm39) |
|
probably null |
Het |
Slc22a26 |
T |
A |
19: 7,779,466 (GRCm39) |
M117L |
probably benign |
Het |
Sult2a2 |
T |
A |
7: 13,468,822 (GRCm39) |
I96K |
probably damaging |
Het |
Tcf15 |
G |
A |
2: 151,990,626 (GRCm39) |
R175H |
probably benign |
Het |
Uggt1 |
A |
T |
1: 36,247,037 (GRCm39) |
V320D |
probably damaging |
Het |
Vmn2r102 |
A |
G |
17: 19,914,286 (GRCm39) |
N617S |
probably damaging |
Het |
Vpreb3 |
A |
G |
10: 75,785,133 (GRCm39) |
Y77C |
probably damaging |
Het |
Zbbx |
A |
T |
3: 74,978,930 (GRCm39) |
|
probably benign |
Het |
Zfand6 |
A |
T |
7: 84,283,185 (GRCm39) |
S57R |
probably benign |
Het |
Zmym2 |
A |
G |
14: 57,151,500 (GRCm39) |
I462V |
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 |
|
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 |
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 |
|
Posted On |
2016-08-02 |