Incidental Mutation 'IGL00662:Cenpn'
| ID |
9610 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cenpn
|
| Ensembl Gene |
ENSMUSG00000031756 |
| Gene Name |
centromere protein N |
| Synonyms |
2610510J17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
IGL00662
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
117648469-117668246 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 117655326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034205]
[ENSMUST00000212263]
[ENSMUST00000212775]
|
| AlphaFold |
Q9CZW2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034205
|
| SMART Domains |
Protein: ENSMUSP00000034205
Gene: ENSMUSG00000031756
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CENP-N
|
3 |
337 |
3.4e-81 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212184
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212263
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212775
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other proteins to the centromere. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg16l2 |
T |
C |
7: 100,939,103 (GRCm39) |
N587S |
probably benign |
Het |
| Bcar3 |
C |
T |
3: 122,306,585 (GRCm39) |
A186V |
probably benign |
Het |
| Bcr |
A |
T |
10: 75,003,932 (GRCm39) |
|
probably benign |
Het |
| Cd207 |
A |
G |
6: 83,652,908 (GRCm39) |
I74T |
possibly damaging |
Het |
| Chuk |
A |
T |
19: 44,085,649 (GRCm39) |
F228I |
possibly damaging |
Het |
| Cmss1 |
T |
C |
16: 57,124,092 (GRCm39) |
D233G |
probably damaging |
Het |
| Copg1 |
C |
T |
6: 87,879,352 (GRCm39) |
T466I |
possibly damaging |
Het |
| Ctsll3 |
A |
G |
13: 60,946,756 (GRCm39) |
S288P |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,907,723 (GRCm39) |
I2760F |
possibly damaging |
Het |
| Gpi1 |
A |
G |
7: 33,915,375 (GRCm39) |
|
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,581,081 (GRCm39) |
R318C |
probably benign |
Het |
| Kcnk9 |
A |
G |
15: 72,417,924 (GRCm39) |
S69P |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 57,995,897 (GRCm39) |
T127A |
probably damaging |
Het |
| Khk |
T |
C |
5: 31,087,019 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,850,502 (GRCm39) |
S703T |
possibly damaging |
Het |
| Nup98 |
T |
A |
7: 101,844,194 (GRCm39) |
N47I |
probably damaging |
Het |
| Rad1 |
A |
G |
15: 10,490,495 (GRCm39) |
N154S |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,220,389 (GRCm39) |
|
probably benign |
Het |
| Slc35f5 |
T |
A |
1: 125,515,161 (GRCm39) |
L438H |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,358,659 (GRCm39) |
Y334C |
possibly damaging |
Het |
| Spata17 |
T |
C |
1: 186,849,536 (GRCm39) |
N124S |
probably benign |
Het |
| Tfap2c |
T |
C |
2: 172,393,438 (GRCm39) |
Y118H |
probably damaging |
Het |
| Tnpo3 |
A |
T |
6: 29,565,845 (GRCm39) |
L503* |
probably null |
Het |
| Utrn |
C |
T |
10: 12,540,705 (GRCm39) |
E1907K |
probably damaging |
Het |
| Vav3 |
T |
A |
3: 109,435,708 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,681,904 (GRCm39) |
K1033I |
probably damaging |
Het |
| Zfp202 |
A |
G |
9: 40,122,339 (GRCm39) |
N367S |
probably benign |
Het |
|
| Other mutations in Cenpn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02084:Cenpn
|
APN |
8 |
117,667,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0791:Cenpn
|
UTSW |
8 |
117,667,559 (GRCm39) |
splice site |
probably benign |
|
|
R0843:Cenpn
|
UTSW |
8 |
117,660,045 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1166:Cenpn
|
UTSW |
8 |
117,652,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1650:Cenpn
|
UTSW |
8 |
117,661,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Cenpn
|
UTSW |
8 |
117,661,536 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4512:Cenpn
|
UTSW |
8 |
117,660,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4513:Cenpn
|
UTSW |
8 |
117,660,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4514:Cenpn
|
UTSW |
8 |
117,660,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Cenpn
|
UTSW |
8 |
117,661,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5969:Cenpn
|
UTSW |
8 |
117,667,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6518:Cenpn
|
UTSW |
8 |
117,663,904 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6795:Cenpn
|
UTSW |
8 |
117,652,887 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7143:Cenpn
|
UTSW |
8 |
117,663,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7556:Cenpn
|
UTSW |
8 |
117,664,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7961:Cenpn
|
UTSW |
8 |
117,663,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8009:Cenpn
|
UTSW |
8 |
117,663,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8172:Cenpn
|
UTSW |
8 |
117,658,333 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9034:Cenpn
|
UTSW |
8 |
117,661,478 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9196:Cenpn
|
UTSW |
8 |
117,658,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9199:Cenpn
|
UTSW |
8 |
117,664,014 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9534:Cenpn
|
UTSW |
8 |
117,661,474 (GRCm39) |
nonsense |
probably null |
|
|
R9574:Cenpn
|
UTSW |
8 |
117,660,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation