Incidental Mutation 'IGL00509:Nek2'
| ID |
12324 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nek2
|
| Ensembl Gene |
ENSMUSG00000026622 |
| Gene Name |
NIMA (never in mitosis gene a)-related expressed kinase 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00509
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
191553556-191565162 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 191559490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027931]
|
| AlphaFold |
O35942 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027931
|
| SMART Domains |
Protein: ENSMUSP00000027931
Gene: ENSMUSG00000026622
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
8 |
271 |
5.59e-86 |
SMART |
|
low complexity region
|
277 |
292 |
N/A |
INTRINSIC |
|
coiled coil region
|
339 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
426 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126446
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136733
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150839
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine-protein kinase that is involved in mitotic regulation. This protein is localized to the centrosome, and undetectable during G1 phase, but accumulates progressively throughout the S phase, reaching maximal levels in late G2 phase. Alternatively spliced transcript variants encoding different isoforms with distinct C-termini have been noted for this gene. [provided by RefSeq, Feb 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
T |
C |
5: 99,391,102 (GRCm39) |
|
probably null |
Het |
| Abr |
A |
G |
11: 76,313,915 (GRCm39) |
L514P |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,987,315 (GRCm39) |
D2866E |
possibly damaging |
Het |
| Bfsp1 |
T |
A |
2: 143,673,812 (GRCm39) |
T293S |
probably damaging |
Het |
| Ccr1 |
C |
T |
9: 123,764,090 (GRCm39) |
V147I |
probably benign |
Het |
| Cd84 |
T |
C |
1: 171,679,704 (GRCm39) |
|
probably null |
Het |
| Cep192 |
T |
C |
18: 67,991,939 (GRCm39) |
V1939A |
possibly damaging |
Het |
| Chrnb4 |
A |
T |
9: 54,943,878 (GRCm39) |
L80Q |
probably damaging |
Het |
| Ckmt2 |
A |
T |
13: 92,011,382 (GRCm39) |
L76H |
probably damaging |
Het |
| Cntnap2 |
C |
T |
6: 45,992,197 (GRCm39) |
P375S |
possibly damaging |
Het |
| Cped1 |
A |
T |
6: 22,215,522 (GRCm39) |
L685F |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,610,025 (GRCm39) |
S682P |
probably damaging |
Het |
| Dclk1 |
A |
T |
3: 55,154,707 (GRCm39) |
T46S |
probably damaging |
Het |
| Eif2d |
T |
A |
1: 131,094,089 (GRCm39) |
C427S |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,943,188 (GRCm39) |
Y694N |
probably damaging |
Het |
| Gm15217 |
T |
C |
14: 46,620,768 (GRCm39) |
|
probably benign |
Het |
| Gpr35 |
T |
C |
1: 92,910,594 (GRCm39) |
I102T |
probably damaging |
Het |
| Grk4 |
T |
A |
5: 34,873,634 (GRCm39) |
N233K |
probably damaging |
Het |
| Hdac3 |
T |
C |
18: 38,087,938 (GRCm39) |
D10G |
possibly damaging |
Het |
| Hexb |
G |
A |
13: 97,318,437 (GRCm39) |
T308M |
probably damaging |
Het |
| Inpp5j |
C |
A |
11: 3,451,595 (GRCm39) |
D436Y |
possibly damaging |
Het |
| Kif18a |
A |
G |
2: 109,148,333 (GRCm39) |
E609G |
possibly damaging |
Het |
| Kif24 |
T |
C |
4: 41,413,826 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
G |
A |
2: 91,316,519 (GRCm39) |
|
probably benign |
Het |
| Mat2b |
T |
C |
11: 40,575,554 (GRCm39) |
K161E |
possibly damaging |
Het |
| Numa1 |
A |
G |
7: 101,662,493 (GRCm39) |
T1965A |
possibly damaging |
Het |
| Oca2 |
G |
A |
7: 55,930,594 (GRCm39) |
G137D |
probably damaging |
Het |
| Pdcl2 |
T |
A |
5: 76,472,959 (GRCm39) |
D3V |
probably damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,443,402 (GRCm39) |
N91S |
probably benign |
Het |
| Siglech |
A |
T |
7: 55,418,635 (GRCm39) |
D146V |
possibly damaging |
Het |
| Slc4a3 |
C |
T |
1: 75,531,727 (GRCm39) |
T898M |
probably damaging |
Het |
| Sp3 |
A |
G |
2: 72,768,406 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
C |
T |
4: 43,542,719 (GRCm39) |
V1396I |
probably benign |
Het |
| Ugt2a3 |
T |
A |
5: 87,473,514 (GRCm39) |
M468L |
probably damaging |
Het |
|
| Other mutations in Nek2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01753:Nek2
|
APN |
1 |
191,557,598 (GRCm39) |
nonsense |
probably null |
|
|
IGL02086:Nek2
|
APN |
1 |
191,563,401 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02164:Nek2
|
APN |
1 |
191,559,416 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02550:Nek2
|
APN |
1 |
191,554,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Nek2
|
UTSW |
1 |
191,559,473 (GRCm39) |
missense |
probably benign |
|
|
R0610:Nek2
|
UTSW |
1 |
191,554,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0629:Nek2
|
UTSW |
1 |
191,563,429 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0646:Nek2
|
UTSW |
1 |
191,554,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0976:Nek2
|
UTSW |
1 |
191,559,349 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2054:Nek2
|
UTSW |
1 |
191,553,764 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2112:Nek2
|
UTSW |
1 |
191,559,320 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3873:Nek2
|
UTSW |
1 |
191,559,320 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4461:Nek2
|
UTSW |
1 |
191,554,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5947:Nek2
|
UTSW |
1 |
191,561,597 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6807:Nek2
|
UTSW |
1 |
191,554,729 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8032:Nek2
|
UTSW |
1 |
191,558,457 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8692:Nek2
|
UTSW |
1 |
191,554,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9709:Nek2
|
UTSW |
1 |
191,563,289 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9780:Nek2
|
UTSW |
1 |
191,554,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Nek2
|
UTSW |
1 |
191,559,351 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2012-12-06 |
Incidental Mutation