Incidental Mutation 'IGL01140:Cenpk'
| ID |
52610 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cenpk
|
| Ensembl Gene |
ENSMUSG00000021714 |
| Gene Name |
centromere protein K |
| Synonyms |
B130045K24Rik, C530004N04Rik, Solt |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.927)
|
| Stock # |
IGL01140
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
104365474-104386130 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 104372742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022227]
[ENSMUST00000070761]
[ENSMUST00000224500]
[ENSMUST00000224857]
[ENSMUST00000225557]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022227
|
| SMART Domains |
Protein: ENSMUSP00000022227
Gene: ENSMUSG00000021714
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CENP-K
|
47 |
306 |
1.5e-124 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070761
|
| SMART Domains |
Protein: ENSMUSP00000070910
Gene: ENSMUSG00000021714
| 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 |
noncoding transcript
Transcript: ENSMUST00000224098
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224500
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224857
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225939
|
| Coding Region Coverage |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
A |
G |
5: 90,672,726 (GRCm39) |
E187G |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,256,317 (GRCm39) |
V205A |
probably damaging |
Het |
| Atg16l1 |
A |
G |
1: 87,702,575 (GRCm39) |
I279V |
probably benign |
Het |
| Atp2b2 |
C |
T |
6: 113,766,932 (GRCm39) |
V436I |
possibly damaging |
Het |
| Cald1 |
T |
A |
6: 34,739,196 (GRCm39) |
S640T |
possibly damaging |
Het |
| Cdc23 |
A |
G |
18: 34,769,385 (GRCm39) |
Y460H |
probably benign |
Het |
| Ctss |
A |
G |
3: 95,446,036 (GRCm39) |
E52G |
probably damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,913,523 (GRCm39) |
C365S |
probably damaging |
Het |
| Cyp2c55 |
T |
C |
19: 39,007,093 (GRCm39) |
L163P |
probably benign |
Het |
| Cyp4f37 |
T |
C |
17: 32,848,027 (GRCm39) |
S182P |
probably benign |
Het |
| Flt4 |
G |
T |
11: 49,525,770 (GRCm39) |
E740* |
probably null |
Het |
| Galntl6 |
T |
A |
8: 58,411,356 (GRCm39) |
R291S |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,124,694 (GRCm39) |
V568I |
probably benign |
Het |
| Ift70a1 |
A |
G |
2: 75,810,259 (GRCm39) |
V608A |
probably benign |
Het |
| Kcnab3 |
A |
G |
11: 69,220,705 (GRCm39) |
K145R |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,109,928 (GRCm39) |
V2183A |
probably benign |
Het |
| Lrmda |
C |
T |
14: 22,646,585 (GRCm39) |
A75V |
possibly damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,815,258 (GRCm39) |
E282G |
probably damaging |
Het |
| Muc19 |
A |
T |
15: 91,783,593 (GRCm39) |
|
noncoding transcript |
Het |
| Mug1 |
A |
G |
6: 121,859,693 (GRCm39) |
T1231A |
probably benign |
Het |
| Nkpd1 |
A |
G |
7: 19,257,387 (GRCm39) |
T389A |
possibly damaging |
Het |
| Nudt19 |
A |
G |
7: 35,247,336 (GRCm39) |
*358Q |
probably null |
Het |
| Nup160 |
G |
T |
2: 90,530,909 (GRCm39) |
M522I |
possibly damaging |
Het |
| Obsl1 |
T |
A |
1: 75,466,400 (GRCm39) |
|
probably benign |
Het |
| Or4m1 |
T |
A |
14: 50,557,732 (GRCm39) |
I187F |
probably damaging |
Het |
| Or5ak24 |
T |
C |
2: 85,260,484 (GRCm39) |
T230A |
probably benign |
Het |
| Or5b119 |
G |
A |
19: 13,457,151 (GRCm39) |
T137I |
possibly damaging |
Het |
| Osbpl10 |
C |
T |
9: 115,005,070 (GRCm39) |
P341S |
probably benign |
Het |
| Papola |
C |
A |
12: 105,775,856 (GRCm39) |
C7* |
probably null |
Het |
| Pld1 |
C |
A |
3: 28,132,386 (GRCm39) |
L525I |
probably benign |
Het |
| Prom2 |
T |
C |
2: 127,373,125 (GRCm39) |
|
probably benign |
Het |
| Psmb5 |
G |
A |
14: 54,855,264 (GRCm39) |
T62I |
possibly damaging |
Het |
| Sag |
A |
G |
1: 87,751,086 (GRCm39) |
E184G |
probably benign |
Het |
| Slc16a10 |
T |
C |
10: 39,952,921 (GRCm39) |
Y191C |
probably damaging |
Het |
| Slc22a22 |
T |
C |
15: 57,126,734 (GRCm39) |
T93A |
probably damaging |
Het |
| Ssx2ip |
A |
G |
3: 146,133,598 (GRCm39) |
Y231C |
probably benign |
Het |
| Trib1 |
A |
G |
15: 59,523,476 (GRCm39) |
Y170C |
probably damaging |
Het |
| Trmt10a |
G |
A |
3: 137,862,459 (GRCm39) |
|
probably benign |
Het |
| Troap |
G |
T |
15: 98,980,027 (GRCm39) |
Q402H |
probably damaging |
Het |
| Vmn2r70 |
G |
A |
7: 85,214,379 (GRCm39) |
Q258* |
probably null |
Het |
| Zfp128 |
A |
G |
7: 12,624,949 (GRCm39) |
Y439C |
probably benign |
Het |
| Zmym1 |
A |
G |
4: 126,943,435 (GRCm39) |
F318L |
probably damaging |
Het |
| Zswim2 |
A |
G |
2: 83,745,672 (GRCm39) |
S589P |
probably benign |
Het |
|
| Other mutations in Cenpk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R9769:Cenpk
|
UTSW |
13 |
104,381,810 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation