Incidental Mutation 'IGL01753:Nek2'
| ID |
153150 |
| 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 # |
IGL01753
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
191553556-191565162 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 191557598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 187
(Q187*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027931]
|
| AlphaFold |
O35942 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027931
AA Change: Q187*
|
| SMART Domains |
Protein: ENSMUSP00000027931
Gene: ENSMUSG00000026622
AA Change: Q187*
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192600
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
G |
16: 85,599,112 (GRCm39) |
F163L |
probably benign |
Het |
| Ap2b1 |
A |
G |
11: 83,212,799 (GRCm39) |
T60A |
probably damaging |
Het |
| Casp3 |
A |
G |
8: 47,082,776 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,919,438 (GRCm39) |
Y118C |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,087,015 (GRCm39) |
|
probably benign |
Het |
| Clec4b2 |
A |
T |
6: 123,179,169 (GRCm39) |
Y157F |
possibly damaging |
Het |
| Crppa |
C |
T |
12: 36,523,176 (GRCm39) |
L202F |
probably damaging |
Het |
| Dlg4 |
T |
A |
11: 69,932,173 (GRCm39) |
F480I |
probably damaging |
Het |
| Dock8 |
T |
A |
19: 25,038,656 (GRCm39) |
|
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,530,906 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
T |
C |
1: 132,390,677 (GRCm39) |
Y830H |
probably damaging |
Het |
| Hook2 |
T |
C |
8: 85,719,865 (GRCm39) |
|
probably null |
Het |
| Ighv2-9-1 |
T |
C |
12: 113,733,548 (GRCm39) |
D91G |
probably damaging |
Het |
| Igkv12-41 |
T |
C |
6: 69,835,510 (GRCm39) |
R81G |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,067,794 (GRCm39) |
S1766T |
probably damaging |
Het |
| Mdn1 |
G |
A |
4: 32,708,483 (GRCm39) |
V1670I |
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,350,274 (GRCm39) |
F124L |
probably damaging |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pif1 |
G |
A |
9: 65,500,590 (GRCm39) |
G505D |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,287,413 (GRCm39) |
I495F |
probably benign |
Het |
| Ppp1r21 |
T |
C |
17: 88,869,530 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,444,802 (GRCm39) |
I282V |
probably benign |
Het |
| Pzp |
A |
T |
6: 128,479,146 (GRCm39) |
I669N |
possibly damaging |
Het |
| Sipa1l2 |
T |
A |
8: 126,180,031 (GRCm39) |
|
probably benign |
Het |
| Top2a |
T |
A |
11: 98,898,100 (GRCm39) |
T689S |
probably damaging |
Het |
| Trerf1 |
T |
A |
17: 47,626,362 (GRCm39) |
|
noncoding transcript |
Het |
| Uso1 |
T |
C |
5: 92,300,777 (GRCm39) |
|
probably null |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,674,139 (GRCm39) |
V399E |
probably damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,929,217 (GRCm39) |
I390V |
probably benign |
Het |
| Zfp90 |
C |
T |
8: 107,150,782 (GRCm39) |
T165I |
probably benign |
Het |
|
| Other mutations in Nek2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Nek2
|
APN |
1 |
191,559,490 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2014-02-04 |
Incidental Mutation