Incidental Mutation 'R7087:Cenpo'
| ID |
549968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cenpo
|
| Ensembl Gene |
ENSMUSG00000020652 |
| Gene Name |
centromere protein O |
| Synonyms |
8430427C03Rik, 2810429O05Rik, D12Ertd482e |
| MMRRC Submission |
045181-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7087 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
4246004-4284294 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4265307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 238
(E238K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020981]
[ENSMUST00000020984]
[ENSMUST00000111169]
[ENSMUST00000124505]
[ENSMUST00000127756]
[ENSMUST00000128466]
[ENSMUST00000140975]
[ENSMUST00000152065]
|
| AlphaFold |
Q8K015 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020981
AA Change: E117K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000020981
Gene: ENSMUSG00000020652
AA Change: E117K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CENP-O
|
1 |
74 |
2.1e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020984
|
| SMART Domains |
Protein: ENSMUSP00000020984
Gene: ENSMUSG00000020654
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
transmembrane domain
|
105 |
125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
transmembrane domain
|
170 |
187 |
N/A |
INTRINSIC |
|
transmembrane domain
|
189 |
211 |
N/A |
INTRINSIC |
|
transmembrane domain
|
226 |
245 |
N/A |
INTRINSIC |
|
CYCc
|
270 |
472 |
2.17e-61 |
SMART |
|
low complexity region
|
516 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
554 |
N/A |
INTRINSIC |
|
coiled coil region
|
567 |
600 |
N/A |
INTRINSIC |
|
transmembrane domain
|
631 |
650 |
N/A |
INTRINSIC |
|
transmembrane domain
|
660 |
682 |
N/A |
INTRINSIC |
|
transmembrane domain
|
710 |
732 |
N/A |
INTRINSIC |
|
transmembrane domain
|
752 |
771 |
N/A |
INTRINSIC |
|
transmembrane domain
|
776 |
798 |
N/A |
INTRINSIC |
|
transmembrane domain
|
841 |
858 |
N/A |
INTRINSIC |
|
CYCc
|
884 |
1103 |
2.02e-70 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111169
|
| SMART Domains |
Protein: ENSMUSP00000106799
Gene: ENSMUSG00000020652
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
39 |
74 |
N/A |
INTRINSIC |
|
Pfam:CENP-O
|
118 |
195 |
2.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124505
|
| SMART Domains |
Protein: ENSMUSP00000122073
Gene: ENSMUSG00000020654
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
transmembrane domain
|
105 |
125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
transmembrane domain
|
170 |
187 |
N/A |
INTRINSIC |
|
transmembrane domain
|
189 |
211 |
N/A |
INTRINSIC |
|
transmembrane domain
|
226 |
245 |
N/A |
INTRINSIC |
|
CYCc
|
270 |
472 |
2.17e-61 |
SMART |
|
low complexity region
|
516 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
554 |
N/A |
INTRINSIC |
|
coiled coil region
|
567 |
600 |
N/A |
INTRINSIC |
|
transmembrane domain
|
631 |
650 |
N/A |
INTRINSIC |
|
transmembrane domain
|
660 |
682 |
N/A |
INTRINSIC |
|
transmembrane domain
|
710 |
732 |
N/A |
INTRINSIC |
|
transmembrane domain
|
752 |
771 |
N/A |
INTRINSIC |
|
transmembrane domain
|
776 |
798 |
N/A |
INTRINSIC |
|
transmembrane domain
|
840 |
857 |
N/A |
INTRINSIC |
|
CYCc
|
883 |
1102 |
2.02e-70 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127756
|
| SMART Domains |
Protein: ENSMUSP00000115406
Gene: ENSMUSG00000020654
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
197 |
N/A |
INTRINSIC |
|
CYCc
|
270 |
472 |
2.17e-61 |
SMART |
|
low complexity region
|
516 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
554 |
N/A |
INTRINSIC |
|
coiled coil region
|
567 |
600 |
N/A |
INTRINSIC |
|
transmembrane domain
|
631 |
650 |
N/A |
INTRINSIC |
|
transmembrane domain
|
660 |
682 |
N/A |
INTRINSIC |
|
transmembrane domain
|
710 |
732 |
N/A |
INTRINSIC |
|
transmembrane domain
|
752 |
771 |
N/A |
INTRINSIC |
|
transmembrane domain
|
776 |
798 |
N/A |
INTRINSIC |
|
transmembrane domain
|
841 |
858 |
N/A |
INTRINSIC |
|
CYCc
|
884 |
1103 |
2.02e-70 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128466
|
| SMART Domains |
Protein: ENSMUSP00000121258
Gene: ENSMUSG00000020652
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
40 |
75 |
N/A |
INTRINSIC |
|
Pfam:CENP-O
|
119 |
196 |
7.1e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140975
AA Change: E238K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119136
Gene: ENSMUSG00000020652
AA Change: E238K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
39 |
74 |
N/A |
INTRINSIC |
|
Pfam:CENP-O
|
117 |
231 |
9.4e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146261
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152065
|
| SMART Domains |
Protein: ENSMUSP00000115644
Gene: ENSMUSG00000020654
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
transmembrane domain
|
105 |
125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
transmembrane domain
|
170 |
187 |
N/A |
INTRINSIC |
|
transmembrane domain
|
189 |
211 |
N/A |
INTRINSIC |
|
transmembrane domain
|
226 |
245 |
N/A |
INTRINSIC |
|
CYCc
|
270 |
472 |
2.17e-61 |
SMART |
|
low complexity region
|
516 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
554 |
N/A |
INTRINSIC |
|
coiled coil region
|
567 |
600 |
N/A |
INTRINSIC |
|
transmembrane domain
|
631 |
650 |
N/A |
INTRINSIC |
|
transmembrane domain
|
660 |
682 |
N/A |
INTRINSIC |
|
transmembrane domain
|
710 |
732 |
N/A |
INTRINSIC |
|
transmembrane domain
|
752 |
771 |
N/A |
INTRINSIC |
|
transmembrane domain
|
776 |
798 |
N/A |
INTRINSIC |
|
transmembrane domain
|
840 |
857 |
N/A |
INTRINSIC |
|
CYCc
|
883 |
1102 |
2.02e-70 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (43/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the interphase centromere complex. The encoded protein is localized to the centromere throughout the cell cycle and is required for bipolar spindle assembly, chromosome segregation and checkpoint signaling during mitosis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
T |
A |
7: 119,373,870 (GRCm39) |
V252D |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,271,856 (GRCm39) |
L1634P |
probably damaging |
Het |
| Arhgef4 |
A |
T |
1: 34,850,767 (GRCm39) |
R438W |
probably damaging |
Het |
| Asb3 |
A |
C |
11: 30,948,321 (GRCm39) |
K38T |
probably benign |
Het |
| Atp1a4 |
A |
T |
1: 172,074,269 (GRCm39) |
L328Q |
probably damaging |
Het |
| BC030500 |
T |
A |
8: 59,365,388 (GRCm39) |
I13N |
unknown |
Het |
| Cbarp |
A |
G |
10: 79,972,242 (GRCm39) |
S136P |
probably damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,343,988 (GRCm39) |
D910E |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,227,483 (GRCm39) |
V2535A |
probably benign |
Het |
| Ddx39b |
C |
T |
17: 35,472,025 (GRCm39) |
R355C |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,570,543 (GRCm39) |
T338A |
probably benign |
Het |
| Dpysl3 |
T |
C |
18: 43,496,595 (GRCm39) |
D147G |
probably damaging |
Het |
| Eif3i |
G |
T |
4: 129,486,104 (GRCm39) |
H284Q |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,779,650 (GRCm39) |
L42Q |
probably null |
Het |
| Exoc3l2 |
A |
G |
7: 19,203,582 (GRCm39) |
E58G |
|
Het |
| Fgf18 |
C |
T |
11: 33,074,677 (GRCm39) |
R98Q |
probably damaging |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gp2 |
T |
A |
7: 119,049,455 (GRCm39) |
T361S |
probably damaging |
Het |
| Gtsf1 |
A |
T |
15: 103,333,876 (GRCm39) |
H33Q |
probably damaging |
Het |
| Hoxa4 |
G |
A |
6: 52,168,271 (GRCm39) |
T133M |
probably damaging |
Het |
| Hspb7 |
C |
A |
4: 141,149,866 (GRCm39) |
T84K |
possibly damaging |
Het |
| Kcnq4 |
C |
T |
4: 120,561,596 (GRCm39) |
R491H |
probably damaging |
Het |
| Kdm7a |
C |
T |
6: 39,152,315 (GRCm39) |
R127H |
probably benign |
Het |
| Lsm10 |
C |
T |
4: 125,991,952 (GRCm39) |
R103C |
probably damaging |
Het |
| Mgme1 |
T |
C |
2: 144,114,101 (GRCm39) |
S68P |
probably damaging |
Het |
| Nes |
G |
T |
3: 87,887,065 (GRCm39) |
V1775L |
probably benign |
Het |
| Nfrkb |
C |
T |
9: 31,331,228 (GRCm39) |
Q1250* |
probably null |
Het |
| Or4s2 |
T |
C |
2: 88,473,197 (GRCm39) |
F29L |
probably damaging |
Het |
| Phf21b |
A |
T |
15: 84,676,033 (GRCm39) |
L338H |
probably damaging |
Het |
| Pira12 |
G |
A |
7: 3,900,218 (GRCm39) |
A128V |
probably benign |
Het |
| Ppp2r5b |
A |
G |
19: 6,282,580 (GRCm39) |
V190A |
possibly damaging |
Het |
| Prmt1 |
T |
C |
7: 44,631,007 (GRCm39) |
|
probably null |
Het |
| Rusc1 |
A |
G |
3: 88,996,799 (GRCm39) |
V639A |
probably damaging |
Het |
| Slc24a2 |
T |
A |
4: 86,909,456 (GRCm39) |
|
probably null |
Het |
| Slc39a10 |
T |
C |
1: 46,874,880 (GRCm39) |
T141A |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,002,076 (GRCm39) |
M69L |
probably benign |
Het |
| St8sia5 |
A |
C |
18: 77,342,238 (GRCm39) |
Q316P |
possibly damaging |
Het |
| Svs3a |
T |
C |
2: 164,131,717 (GRCm39) |
I96T |
possibly damaging |
Het |
| Syne1 |
T |
A |
10: 5,492,024 (GRCm39) |
|
probably benign |
Het |
| Trappc3 |
T |
C |
4: 126,166,474 (GRCm39) |
S16P |
probably benign |
Het |
| Vmn2r44 |
A |
T |
7: 8,381,366 (GRCm39) |
F176I |
probably benign |
Het |
| Wnk1 |
C |
T |
6: 120,014,491 (GRCm39) |
E35K |
possibly damaging |
Het |
| Zfp354c |
A |
G |
11: 50,706,040 (GRCm39) |
L345P |
probably damaging |
Het |
| Zfp608 |
T |
A |
18: 55,032,469 (GRCm39) |
K490N |
probably damaging |
Het |
| Zfp687 |
A |
C |
3: 94,917,524 (GRCm39) |
S709A |
probably benign |
Het |
|
| Other mutations in Cenpo |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00540:Cenpo
|
APN |
12 |
4,266,685 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01661:Cenpo
|
APN |
12 |
4,284,023 (GRCm39) |
splice site |
probably null |
|
|
IGL02716:Cenpo
|
APN |
12 |
4,265,390 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0305:Cenpo
|
UTSW |
12 |
4,266,660 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0811:Cenpo
|
UTSW |
12 |
4,266,643 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0812:Cenpo
|
UTSW |
12 |
4,266,643 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1574:Cenpo
|
UTSW |
12 |
4,265,433 (GRCm39) |
splice site |
probably null |
|
|
R1574:Cenpo
|
UTSW |
12 |
4,265,433 (GRCm39) |
splice site |
probably null |
|
|
R1916:Cenpo
|
UTSW |
12 |
4,266,683 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2174:Cenpo
|
UTSW |
12 |
4,267,318 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5384:Cenpo
|
UTSW |
12 |
4,266,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6211:Cenpo
|
UTSW |
12 |
4,266,733 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6238:Cenpo
|
UTSW |
12 |
4,281,968 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6630:Cenpo
|
UTSW |
12 |
4,267,236 (GRCm39) |
unclassified |
probably benign |
|
|
R6862:Cenpo
|
UTSW |
12 |
4,266,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7086:Cenpo
|
UTSW |
12 |
4,265,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7088:Cenpo
|
UTSW |
12 |
4,265,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7351:Cenpo
|
UTSW |
12 |
4,266,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7790:Cenpo
|
UTSW |
12 |
4,264,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7877:Cenpo
|
UTSW |
12 |
4,264,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9371:Cenpo
|
UTSW |
12 |
4,266,686 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGCCAATCTGGGAAAGG -3'
(R):5'- CAGTACCTCTGGTGCAGTAATTGC -3'
Sequencing Primer
(F):5'- AAGGGATAGGGTACTTAGCGTTTAC -3'
(R):5'- CAGTAATTGCCCTCTCCATCC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation