Incidental Mutation 'R9769:Cenpk'
| ID |
733405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cenpk
|
| Ensembl Gene |
ENSMUSG00000021714 |
| Gene Name |
centromere protein K |
| Synonyms |
B130045K24Rik, C530004N04Rik, Solt |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.927)
|
| Stock # |
R9769 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
104365474-104386130 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 104381810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 245
(Q245*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022227]
[ENSMUST00000070761]
[ENSMUST00000224500]
[ENSMUST00000224857]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022227
AA Change: Q245*
|
| SMART Domains |
Protein: ENSMUSP00000022227
Gene: ENSMUSG00000021714
AA Change: Q245*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CENP-K
|
47 |
306 |
1.5e-124 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000070761
AA Change: Q210*
|
| SMART Domains |
Protein: ENSMUSP00000070910
Gene: ENSMUSG00000021714
AA Change: Q210*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CENP-K
|
1 |
231 |
1.1e-99 |
PFAM |
|
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224500
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224857
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CENPK is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
A |
T |
15: 94,251,459 (GRCm39) |
C443S |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,488,478 (GRCm39) |
S451P |
probably damaging |
Het |
| Atp13a5 |
T |
A |
16: 29,167,513 (GRCm39) |
K146* |
probably null |
Het |
| Atxn2l |
A |
T |
7: 126,095,692 (GRCm39) |
I481N |
probably benign |
Het |
| Cacna1i |
A |
T |
15: 80,253,793 (GRCm39) |
I677F |
probably damaging |
Het |
| Ccnb1 |
T |
C |
13: 100,917,393 (GRCm39) |
Y322C |
probably damaging |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Kel |
C |
T |
6: 41,678,990 (GRCm39) |
G158R |
probably damaging |
Het |
| Klhl28 |
A |
G |
12: 64,998,330 (GRCm39) |
V388A |
probably benign |
Het |
| Macc1 |
A |
G |
12: 119,407,241 (GRCm39) |
K33E |
probably benign |
Het |
| Mup15 |
T |
A |
4: 61,356,528 (GRCm39) |
D79V |
possibly damaging |
Het |
| Nbeal2 |
C |
A |
9: 110,455,347 (GRCm39) |
V2549L |
probably benign |
Het |
| Ogfod3 |
T |
C |
11: 121,074,357 (GRCm39) |
T231A |
probably damaging |
Het |
| Or2t35 |
C |
T |
14: 14,407,929 (GRCm38) |
R234W |
probably damaging |
Het |
| Or56b35 |
A |
G |
7: 104,963,933 (GRCm39) |
K241E |
probably damaging |
Het |
| Pramel1 |
T |
C |
4: 143,125,110 (GRCm39) |
S345P |
possibly damaging |
Het |
| Sdr16c6 |
T |
A |
4: 4,076,893 (GRCm39) |
N2I |
probably benign |
Het |
| Slc10a4 |
A |
G |
5: 73,164,423 (GRCm39) |
D5G |
unknown |
Het |
| Slc35f3 |
A |
G |
8: 127,121,336 (GRCm39) |
E399G |
probably damaging |
Het |
| Trim43b |
G |
A |
9: 88,967,458 (GRCm39) |
H393Y |
possibly damaging |
Het |
| Vmn1r88 |
A |
G |
7: 12,912,280 (GRCm39) |
H212R |
probably damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,005,443 (GRCm39) |
Y360C |
probably damaging |
Het |
|
| Other mutations in Cenpk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01140:Cenpk
|
APN |
13 |
104,372,742 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02885:Cenpk
|
APN |
13 |
104,385,903 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03107:Cenpk
|
APN |
13 |
104,379,280 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03122:Cenpk
|
APN |
13 |
104,378,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Cenpk
|
UTSW |
13 |
104,378,911 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0423:Cenpk
|
UTSW |
13 |
104,370,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1261:Cenpk
|
UTSW |
13 |
104,367,293 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1262:Cenpk
|
UTSW |
13 |
104,367,293 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2069:Cenpk
|
UTSW |
13 |
104,372,684 (GRCm39) |
unclassified |
probably benign |
|
|
R2105:Cenpk
|
UTSW |
13 |
104,366,105 (GRCm39) |
nonsense |
probably null |
|
|
R2183:Cenpk
|
UTSW |
13 |
104,370,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2509:Cenpk
|
UTSW |
13 |
104,370,675 (GRCm39) |
splice site |
probably null |
|
|
R4625:Cenpk
|
UTSW |
13 |
104,385,901 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4755:Cenpk
|
UTSW |
13 |
104,386,020 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4755:Cenpk
|
UTSW |
13 |
104,367,379 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5217:Cenpk
|
UTSW |
13 |
104,385,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5865:Cenpk
|
UTSW |
13 |
104,372,702 (GRCm39) |
makesense |
probably null |
|
|
R6928:Cenpk
|
UTSW |
13 |
104,365,500 (GRCm39) |
start gained |
probably benign |
|
|
R7109:Cenpk
|
UTSW |
13 |
104,367,256 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7444:Cenpk
|
UTSW |
13 |
104,386,025 (GRCm39) |
makesense |
probably null |
|
|
R8870:Cenpk
|
UTSW |
13 |
104,367,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9071:Cenpk
|
UTSW |
13 |
104,378,870 (GRCm39) |
nonsense |
probably null |
|
|
R9514:Cenpk
|
UTSW |
13 |
104,370,682 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCTCCGTGAAGTGTAGTAG -3'
(R):5'- GGTGCAAATAGTAAATGAGCAACTCTC -3'
Sequencing Primer
(F):5'- CCTCCGTGAAGTGTAGTAGAATAC -3'
(R):5'- TGGCTTTAACACTAATTGTTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation