Incidental Mutation 'IGL02403:Nek4'
| ID |
291953 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nek4
|
| Ensembl Gene |
ENSMUSG00000021918 |
| Gene Name |
NIMA (never in mitosis gene a)-related expressed kinase 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
IGL02403
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
30673334-30710778 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 30686008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 314
(E314*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050171]
[ENSMUST00000226551]
[ENSMUST00000226833]
[ENSMUST00000228328]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000050171
AA Change: E307*
|
| SMART Domains |
Protein: ENSMUSP00000057915
Gene: ENSMUSG00000021918
AA Change: E307*
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
6 |
261 |
6.93e-91 |
SMART |
|
low complexity region
|
429 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
627 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
767 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000226146
AA Change: E182*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000226551
AA Change: E314*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227199
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228328
AA Change: E314*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228392
|
| 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 is a serine/threonine protein kinase required for normal entry into replicative senescence. The encoded protein also is involved in cell cycle arrest in response to double-stranded DNA damage. Finally, this protein plays a role in maintaining cilium integrity, and defects in this gene have been associated with ciliopathies. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,755,227 (GRCm39) |
|
probably null |
Het |
| Alk |
C |
A |
17: 72,208,388 (GRCm39) |
G944V |
probably damaging |
Het |
| Alox15 |
T |
C |
11: 70,236,727 (GRCm39) |
D446G |
probably damaging |
Het |
| Apof |
A |
G |
10: 128,105,353 (GRCm39) |
|
probably null |
Het |
| Arhgap28 |
T |
G |
17: 68,180,154 (GRCm39) |
D81A |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,084,813 (GRCm39) |
S3922P |
probably benign |
Het |
| Bms1 |
T |
C |
6: 118,382,185 (GRCm39) |
E451G |
possibly damaging |
Het |
| C9orf72 |
A |
G |
4: 35,205,887 (GRCm39) |
|
probably benign |
Het |
| Capn13 |
T |
A |
17: 73,658,421 (GRCm39) |
T216S |
possibly damaging |
Het |
| Ccdc28a |
A |
T |
10: 18,089,931 (GRCm39) |
|
probably benign |
Het |
| Cdip1 |
T |
C |
16: 4,586,676 (GRCm39) |
T150A |
probably damaging |
Het |
| Chrnb3 |
T |
A |
8: 27,883,836 (GRCm39) |
L191Q |
probably damaging |
Het |
| Chst2 |
G |
A |
9: 95,287,285 (GRCm39) |
Q354* |
probably null |
Het |
| Cldn11 |
T |
C |
3: 31,204,345 (GRCm39) |
V16A |
probably benign |
Het |
| Cyp4f18 |
A |
G |
8: 72,752,072 (GRCm39) |
M198T |
probably damaging |
Het |
| Dhx30 |
A |
G |
9: 109,920,587 (GRCm39) |
L280P |
probably damaging |
Het |
| Disc1 |
A |
G |
8: 125,862,258 (GRCm39) |
|
probably benign |
Het |
| Dnm1l |
T |
C |
16: 16,154,840 (GRCm39) |
I172V |
possibly damaging |
Het |
| Edem2 |
T |
C |
2: 155,550,983 (GRCm39) |
D328G |
possibly damaging |
Het |
| Fbxo10 |
G |
A |
4: 45,062,517 (GRCm39) |
T3M |
probably benign |
Het |
| Fdxacb1 |
T |
A |
9: 50,682,863 (GRCm39) |
S275R |
possibly damaging |
Het |
| Gm7275 |
C |
A |
16: 47,893,991 (GRCm39) |
|
noncoding transcript |
Het |
| Helz2 |
A |
T |
2: 180,872,815 (GRCm39) |
I2468N |
probably damaging |
Het |
| Ift46 |
C |
A |
9: 44,698,176 (GRCm39) |
P213Q |
probably damaging |
Het |
| Ift56 |
A |
G |
6: 38,386,373 (GRCm39) |
M365V |
possibly damaging |
Het |
| Irf2 |
G |
T |
8: 47,299,207 (GRCm39) |
V334F |
probably damaging |
Het |
| Lrp4 |
T |
A |
2: 91,338,927 (GRCm39) |
V1786E |
probably benign |
Het |
| Mfsd5 |
A |
G |
15: 102,188,973 (GRCm39) |
Y115C |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,357,187 (GRCm39) |
R1154G |
possibly damaging |
Het |
| Oas2 |
C |
T |
5: 120,886,815 (GRCm39) |
G117D |
possibly damaging |
Het |
| Or8j3b |
A |
T |
2: 86,204,867 (GRCm39) |
D296E |
probably benign |
Het |
| Pikfyve |
C |
T |
1: 65,283,663 (GRCm39) |
H767Y |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,632,642 (GRCm39) |
H591R |
probably benign |
Het |
| Pygl |
T |
A |
12: 70,241,032 (GRCm39) |
I672F |
probably benign |
Het |
| Rft1 |
G |
T |
14: 30,382,278 (GRCm39) |
|
probably benign |
Het |
| Ripor3 |
A |
C |
2: 167,831,250 (GRCm39) |
L517R |
probably damaging |
Het |
| Serpina3b |
A |
G |
12: 104,096,721 (GRCm39) |
M1V |
probably null |
Het |
| Sgce |
C |
T |
6: 4,694,059 (GRCm39) |
R263Q |
probably damaging |
Het |
| Stard6 |
A |
T |
18: 70,629,183 (GRCm39) |
|
probably null |
Het |
| Them4 |
T |
C |
3: 94,230,978 (GRCm39) |
F117L |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Vmn2r116 |
G |
T |
17: 23,606,338 (GRCm39) |
D417Y |
probably damaging |
Het |
|
| Other mutations in Nek4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01124:Nek4
|
APN |
14 |
30,692,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01746:Nek4
|
APN |
14 |
30,699,541 (GRCm39) |
splice site |
probably null |
|
|
IGL02606:Nek4
|
APN |
14 |
30,685,916 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03261:Nek4
|
APN |
14 |
30,697,247 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0266:Nek4
|
UTSW |
14 |
30,679,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0436:Nek4
|
UTSW |
14 |
30,692,429 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0520:Nek4
|
UTSW |
14 |
30,681,263 (GRCm39) |
splice site |
probably benign |
|
|
R0523:Nek4
|
UTSW |
14 |
30,701,995 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0849:Nek4
|
UTSW |
14 |
30,679,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1167:Nek4
|
UTSW |
14 |
30,696,302 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1465:Nek4
|
UTSW |
14 |
30,678,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Nek4
|
UTSW |
14 |
30,678,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1484:Nek4
|
UTSW |
14 |
30,704,290 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1563:Nek4
|
UTSW |
14 |
30,704,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1616:Nek4
|
UTSW |
14 |
30,709,094 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1670:Nek4
|
UTSW |
14 |
30,704,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Nek4
|
UTSW |
14 |
30,678,910 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2045:Nek4
|
UTSW |
14 |
30,675,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2157:Nek4
|
UTSW |
14 |
30,701,925 (GRCm39) |
splice site |
probably null |
|
|
R2925:Nek4
|
UTSW |
14 |
30,673,667 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4342:Nek4
|
UTSW |
14 |
30,675,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5964:Nek4
|
UTSW |
14 |
30,679,036 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6030:Nek4
|
UTSW |
14 |
30,678,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Nek4
|
UTSW |
14 |
30,678,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6171:Nek4
|
UTSW |
14 |
30,692,304 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7145:Nek4
|
UTSW |
14 |
30,704,305 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7286:Nek4
|
UTSW |
14 |
30,679,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8098:Nek4
|
UTSW |
14 |
30,685,908 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8300:Nek4
|
UTSW |
14 |
30,692,352 (GRCm39) |
missense |
|
|
|
R8397:Nek4
|
UTSW |
14 |
30,692,505 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8481:Nek4
|
UTSW |
14 |
30,685,991 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8962:Nek4
|
UTSW |
14 |
30,675,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8988:Nek4
|
UTSW |
14 |
30,685,924 (GRCm39) |
missense |
|
|
|
R9003:Nek4
|
UTSW |
14 |
30,704,471 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9531:Nek4
|
UTSW |
14 |
30,692,307 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9608:Nek4
|
UTSW |
14 |
30,675,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9748:Nek4
|
UTSW |
14 |
30,709,114 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9777:Nek4
|
UTSW |
14 |
30,706,401 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Posted On |
2015-04-16 |
Incidental Mutation