Incidental Mutation 'R6171:Nek4'
| ID |
490457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nek4
|
| Ensembl Gene |
ENSMUSG00000021918 |
| Gene Name |
NIMA (never in mitosis gene a)-related expressed kinase 4 |
| Synonyms |
|
| MMRRC Submission |
044314-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.368)
|
| Stock # |
R6171 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30673334-30710778 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30692304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 376
(V376A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050171]
[ENSMUST00000226551]
[ENSMUST00000228328]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050171
AA Change: V376A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000057915
Gene: ENSMUSG00000021918
AA Change: V376A
| 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 |
unknown
Transcript: ENSMUST00000226146
AA Change: V251A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226551
AA Change: V383A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228328
AA Change: V383A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228392
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (47/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprs |
A |
G |
4: 126,211,110 (GRCm39) |
V269A |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,882,663 (GRCm39) |
V517D |
probably damaging |
Het |
| Atr |
C |
T |
9: 95,763,324 (GRCm39) |
Q1073* |
probably null |
Het |
| C87436 |
A |
C |
6: 86,422,449 (GRCm39) |
T8P |
probably benign |
Het |
| Clasrp |
T |
C |
7: 19,318,747 (GRCm39) |
|
probably benign |
Het |
| Creb3l1 |
G |
T |
2: 91,821,614 (GRCm39) |
Q254K |
probably damaging |
Het |
| Dapl1 |
C |
A |
2: 59,326,946 (GRCm39) |
T64K |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,313,868 (GRCm39) |
L4168Q |
probably damaging |
Het |
| Dnttip2 |
T |
A |
3: 122,072,511 (GRCm39) |
I597N |
probably damaging |
Het |
| Dyrk1b |
A |
T |
7: 27,885,975 (GRCm39) |
|
probably null |
Het |
| Elk3 |
G |
T |
10: 93,085,906 (GRCm39) |
P132Q |
probably damaging |
Het |
| Galt |
C |
T |
4: 41,757,541 (GRCm39) |
P238S |
probably damaging |
Het |
| Gm10322 |
T |
C |
10: 59,452,084 (GRCm39) |
V67A |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,754,850 (GRCm39) |
Y412C |
probably benign |
Het |
| Kcna1 |
A |
T |
6: 126,619,286 (GRCm39) |
Y345N |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,342,505 (GRCm39) |
Y419C |
probably damaging |
Het |
| Klf15 |
G |
T |
6: 90,443,601 (GRCm39) |
A59S |
possibly damaging |
Het |
| Mettl17 |
T |
A |
14: 52,126,236 (GRCm39) |
Y162N |
probably damaging |
Het |
| Myh10 |
G |
A |
11: 68,682,716 (GRCm39) |
R1050Q |
probably damaging |
Het |
| Nemp1 |
T |
A |
10: 127,525,319 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
T |
C |
7: 26,258,188 (GRCm39) |
I602T |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,628,906 (GRCm39) |
V764A |
probably damaging |
Het |
| Or12e1 |
T |
A |
2: 87,022,709 (GRCm39) |
V226E |
possibly damaging |
Het |
| Or8c17 |
C |
T |
9: 38,179,898 (GRCm39) |
Q22* |
probably null |
Het |
| Osbp2 |
A |
T |
11: 3,667,221 (GRCm39) |
|
probably null |
Het |
| Pax2 |
A |
G |
19: 44,779,179 (GRCm39) |
Y185C |
probably damaging |
Het |
| Pdyn |
A |
T |
2: 129,530,268 (GRCm39) |
S134T |
possibly damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Ppp1r13l |
A |
G |
7: 19,111,436 (GRCm39) |
M754V |
probably benign |
Het |
| Prr23a3 |
T |
A |
9: 98,747,731 (GRCm39) |
N228K |
probably benign |
Het |
| Psmd12 |
T |
C |
11: 107,382,733 (GRCm39) |
F213L |
probably damaging |
Het |
| Qser1 |
A |
T |
2: 104,619,628 (GRCm39) |
S395T |
probably damaging |
Het |
| Rab7b |
A |
G |
1: 131,626,372 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,738,709 (GRCm39) |
L2821* |
probably null |
Het |
| Rplp0 |
A |
G |
5: 115,699,219 (GRCm39) |
N127S |
probably benign |
Het |
| Serpina9 |
G |
T |
12: 103,974,678 (GRCm39) |
Y158* |
probably null |
Het |
| Sis |
G |
A |
3: 72,868,360 (GRCm39) |
T110M |
possibly damaging |
Het |
| Slc43a2 |
A |
G |
11: 75,453,876 (GRCm39) |
Y263C |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Stard13 |
A |
T |
5: 151,016,227 (GRCm39) |
V88E |
probably damaging |
Het |
| Trim29 |
G |
A |
9: 43,230,674 (GRCm39) |
E286K |
probably damaging |
Het |
| Vmn2r24 |
T |
C |
6: 123,764,205 (GRCm39) |
S361P |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,214,308 (GRCm39) |
T18A |
probably damaging |
Het |
| Xylb |
C |
T |
9: 119,210,657 (GRCm39) |
T380M |
probably damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,994,119 (GRCm39) |
T422A |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,602 (GRCm39) |
E657G |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTCCCAAGAGAAACCAGTG -3'
(R):5'- TGTGTACCACTCACCTGGTCTG -3'
Sequencing Primer
(F):5'- TCCCAAGAGAAACCAGTGGACATTG -3'
(R):5'- TTGAGGGATACAATGGCTTCACC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation