Incidental Mutation 'IGL01746:Nek4'
| ID |
153035 |
| 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: 0.368)
|
| Stock # |
IGL01746
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
30673334-30710778 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 30699541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050171]
[ENSMUST00000226551]
[ENSMUST00000228328]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000050171
|
| SMART Domains |
Protein: ENSMUSP00000057915
Gene: ENSMUSG00000021918
| 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
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000226551
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228328
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,982,276 (GRCm39) |
M1187V |
possibly damaging |
Het |
| Ctsm |
T |
C |
13: 61,687,630 (GRCm39) |
E76G |
probably benign |
Het |
| Ctsm |
T |
C |
13: 61,686,717 (GRCm39) |
|
probably benign |
Het |
| Egfl8 |
T |
C |
17: 34,833,890 (GRCm39) |
T63A |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,045,880 (GRCm39) |
C3966* |
probably null |
Het |
| Fsd2 |
T |
C |
7: 81,202,755 (GRCm39) |
T275A |
probably benign |
Het |
| Fyb2 |
A |
T |
4: 104,802,404 (GRCm39) |
H102L |
probably benign |
Het |
| Galnt9 |
T |
C |
5: 110,736,188 (GRCm39) |
I168T |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,947,338 (GRCm39) |
Y59H |
probably damaging |
Het |
| Khnyn |
T |
C |
14: 56,124,439 (GRCm39) |
V231A |
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,208,160 (GRCm39) |
V378E |
probably damaging |
Het |
| Lbx1 |
A |
T |
19: 45,222,214 (GRCm39) |
S270T |
possibly damaging |
Het |
| Mcm6 |
G |
A |
1: 128,281,261 (GRCm39) |
R101* |
probably null |
Het |
| Mcph1 |
T |
C |
8: 18,721,143 (GRCm39) |
L657P |
probably damaging |
Het |
| Ndst2 |
G |
T |
14: 20,779,482 (GRCm39) |
P253T |
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,424,328 (GRCm39) |
|
probably null |
Het |
| Oc90 |
A |
G |
15: 65,761,250 (GRCm39) |
|
probably benign |
Het |
| Plcl2 |
T |
A |
17: 50,914,724 (GRCm39) |
S578T |
probably benign |
Het |
| Ranbp3l |
T |
A |
15: 9,063,167 (GRCm39) |
C325* |
probably null |
Het |
| Rps19bp1 |
T |
C |
15: 80,145,198 (GRCm39) |
Y140C |
probably damaging |
Het |
| Sec62 |
T |
A |
3: 30,868,395 (GRCm39) |
I208K |
probably benign |
Het |
| Slc25a48 |
T |
A |
13: 56,618,166 (GRCm39) |
F268I |
probably damaging |
Het |
| Slc35e3 |
T |
C |
10: 117,580,807 (GRCm39) |
T166A |
possibly damaging |
Het |
| Tmem253 |
G |
A |
14: 52,254,614 (GRCm39) |
W23* |
probably null |
Het |
| Tmem97 |
T |
C |
11: 78,433,586 (GRCm39) |
Y103C |
probably damaging |
Het |
| Traf6 |
A |
G |
2: 101,527,237 (GRCm39) |
E329G |
possibly damaging |
Het |
| Ttll12 |
A |
G |
15: 83,462,877 (GRCm39) |
F530L |
probably damaging |
Het |
| Ugt3a1 |
C |
T |
15: 9,361,754 (GRCm39) |
P177S |
probably damaging |
Het |
| Veph1 |
T |
C |
3: 66,065,508 (GRCm39) |
T520A |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,286,713 (GRCm39) |
Y404N |
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 |
|
IGL02403:Nek4
|
APN |
14 |
30,686,008 (GRCm39) |
nonsense |
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 |
2014-02-04 |
Incidental Mutation