Incidental Mutation 'R2925:Nek4'
| ID |
255722 |
| 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 |
040510-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.368)
|
| Stock # |
R2925 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30673334-30710778 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30673667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 29
(G29S)
|
| 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 benign
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 benign
Transcript: ENSMUST00000226551
AA Change: G29S
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226833
AA Change: G29S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227602
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228328
AA Change: G29S
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228392
|
| Meta Mutation Damage Score |
0.0774 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
95% (40/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
T |
C |
14: 44,407,755 (GRCm39) |
T93A |
probably damaging |
Het |
| Acte1 |
A |
T |
7: 143,437,736 (GRCm39) |
R147* |
probably null |
Het |
| Akr1c21 |
A |
G |
13: 4,626,349 (GRCm39) |
|
probably null |
Het |
| Alk |
A |
G |
17: 72,910,202 (GRCm39) |
V168A |
probably benign |
Het |
| Ap4b1 |
A |
G |
3: 103,727,997 (GRCm39) |
E337G |
probably damaging |
Het |
| Bltp1 |
G |
T |
3: 37,061,271 (GRCm39) |
A3327S |
probably damaging |
Het |
| Btn2a2 |
A |
G |
13: 23,665,984 (GRCm39) |
S283P |
probably damaging |
Het |
| Ctcfl |
C |
T |
2: 172,936,489 (GRCm39) |
E628K |
probably damaging |
Het |
| Cul9 |
G |
A |
17: 46,821,907 (GRCm39) |
T1856M |
probably benign |
Het |
| Defb41 |
T |
C |
1: 18,330,857 (GRCm39) |
D30G |
probably damaging |
Het |
| Dnai1 |
A |
T |
4: 41,597,919 (GRCm39) |
I74F |
probably damaging |
Het |
| Ecpas |
T |
A |
4: 58,833,928 (GRCm39) |
K851* |
probably null |
Het |
| Fbln2 |
T |
A |
6: 91,242,837 (GRCm39) |
C846S |
probably damaging |
Het |
| Fuom |
T |
C |
7: 139,679,862 (GRCm39) |
T110A |
probably benign |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lyz3 |
C |
T |
10: 117,070,336 (GRCm39) |
R147Q |
probably benign |
Het |
| Man2b2 |
A |
G |
5: 36,981,446 (GRCm39) |
F224L |
probably benign |
Het |
| Mtbp |
G |
A |
15: 55,483,210 (GRCm39) |
R429Q |
probably benign |
Het |
| Ncapg2 |
C |
A |
12: 116,402,349 (GRCm39) |
T727K |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Nup214 |
A |
G |
2: 31,888,015 (GRCm39) |
K15E |
probably damaging |
Het |
| Or5ac24 |
A |
T |
16: 59,165,706 (GRCm39) |
Y119* |
probably null |
Het |
| Or5m11b |
T |
A |
2: 85,806,125 (GRCm39) |
C179* |
probably null |
Het |
| Or8k32 |
C |
T |
2: 86,368,891 (GRCm39) |
D121N |
probably damaging |
Het |
| Or9a4 |
T |
A |
6: 40,548,342 (GRCm39) |
S7R |
probably benign |
Het |
| P2ry13 |
G |
A |
3: 59,116,801 (GRCm39) |
H326Y |
probably benign |
Het |
| Plec |
A |
G |
15: 76,062,452 (GRCm39) |
F2563S |
probably damaging |
Het |
| Rc3h1 |
A |
G |
1: 160,782,546 (GRCm39) |
Y675C |
probably damaging |
Het |
| Samd3 |
T |
A |
10: 26,127,785 (GRCm39) |
S288T |
probably benign |
Het |
| Scaf4 |
G |
T |
16: 90,047,177 (GRCm39) |
P400Q |
unknown |
Het |
| Selplg |
T |
C |
5: 113,958,240 (GRCm39) |
D22G |
possibly damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,708,999 (GRCm39) |
|
probably benign |
Het |
| Syt3 |
T |
A |
7: 44,045,222 (GRCm39) |
V518E |
probably damaging |
Het |
| Tnks |
G |
A |
8: 35,432,815 (GRCm39) |
A2V |
unknown |
Het |
| Upk3a |
A |
G |
15: 84,902,350 (GRCm39) |
Y59C |
probably benign |
Het |
| Usp4 |
T |
C |
9: 108,245,055 (GRCm39) |
L331P |
probably damaging |
Het |
| Zbed5 |
A |
G |
5: 129,932,039 (GRCm39) |
T663A |
possibly damaging |
Het |
| Zbtb11 |
G |
A |
16: 55,794,447 (GRCm39) |
R8Q |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGAGTACTTCACCTCCCG -3'
(R):5'- GCCCCTGTTCTCAAGAAAATTTCAG -3'
Sequencing Primer
(F):5'- ACCTCCCGTCTGGCATGAG -3'
(R):5'- TCTCAAGAAAATTTCAGGTGACAGG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation