Incidental Mutation 'R4342:Nek4'
| ID |
324198 |
| 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 |
041100-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.321)
|
| Stock # |
R4342 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30951377-30988821 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30953906 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 66
(V66A)
|
| 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 damaging
Transcript: ENSMUST00000050171
AA Change: V59A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057915
Gene: ENSMUSG00000021918
AA Change: V59A
| 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: ENSMUST00000226146
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226551
AA Change: V66A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226833
AA Change: V66A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227602
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228328
AA Change: V66A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228392
|
| Meta Mutation Damage Score |
0.6434 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
99% (68/69) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
C |
17: 45,516,495 (GRCm38) |
C488R |
probably benign |
Het |
| Adamts19 |
A |
T |
18: 58,942,500 (GRCm38) |
H489L |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 9,012,083 (GRCm38) |
V3577A |
possibly damaging |
Het |
| Arhgap44 |
G |
A |
11: 65,012,061 (GRCm38) |
R401* |
probably null |
Het |
| Cbx3-ps2 |
T |
C |
13: 65,559,688 (GRCm38) |
|
noncoding transcript |
Het |
| Ccdc174 |
T |
A |
6: 91,885,356 (GRCm38) |
L86* |
probably null |
Het |
| Cd38 |
A |
C |
5: 43,869,089 (GRCm38) |
I72L |
probably benign |
Het |
| Cers4 |
T |
C |
8: 4,521,223 (GRCm38) |
L264P |
probably damaging |
Het |
| Cldn23 |
A |
G |
8: 35,825,498 (GRCm38) |
S279P |
probably benign |
Het |
| Cth |
T |
A |
3: 157,924,976 (GRCm38) |
T19S |
probably damaging |
Het |
| Dnajc22 |
T |
A |
15: 99,104,464 (GRCm38) |
L330* |
probably null |
Het |
| Epas1 |
G |
A |
17: 86,823,800 (GRCm38) |
C336Y |
probably damaging |
Het |
| Evi5l |
A |
C |
8: 4,183,492 (GRCm38) |
|
probably benign |
Het |
| Fam71b |
A |
G |
11: 46,407,216 (GRCm38) |
D449G |
possibly damaging |
Het |
| Fbxl2 |
A |
T |
9: 113,985,306 (GRCm38) |
H272Q |
probably benign |
Het |
| Fgd3 |
C |
T |
13: 49,273,709 (GRCm38) |
|
probably null |
Het |
| Fhdc1 |
C |
A |
3: 84,444,826 (GRCm38) |
V1031F |
probably benign |
Het |
| Fscn1 |
T |
C |
5: 142,972,021 (GRCm38) |
Y308H |
probably damaging |
Het |
| Gm5878 |
G |
A |
6: 85,125,651 (GRCm38) |
R31* |
probably null |
Het |
| Gm996 |
A |
G |
2: 25,579,108 (GRCm38) |
Y264H |
possibly damaging |
Het |
| Gpatch2l |
T |
C |
12: 86,260,679 (GRCm38) |
V277A |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,544,561 (GRCm38) |
M1385K |
probably benign |
Het |
| Grin2a |
A |
G |
16: 9,653,589 (GRCm38) |
I605T |
possibly damaging |
Het |
| Hoxc11 |
C |
T |
15: 102,954,671 (GRCm38) |
S49F |
probably damaging |
Het |
| Igf2r |
C |
T |
17: 12,709,511 (GRCm38) |
E982K |
possibly damaging |
Het |
| Ighv10-3 |
A |
T |
12: 114,523,504 (GRCm38) |
M99K |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,988,729 (GRCm38) |
T614S |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 45,114,444 (GRCm38) |
T66M |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,774,248 (GRCm38) |
V461A |
probably damaging |
Het |
| Mcts2 |
G |
A |
2: 152,687,664 (GRCm38) |
V132M |
probably damaging |
Het |
| Mical3 |
C |
A |
6: 120,934,838 (GRCm38) |
E1083* |
probably null |
Het |
| Nbeal2 |
A |
G |
9: 110,631,793 (GRCm38) |
|
probably benign |
Het |
| Nfasc |
A |
G |
1: 132,631,705 (GRCm38) |
F229S |
probably damaging |
Het |
| Nhsl1 |
T |
C |
10: 18,526,689 (GRCm38) |
F1221S |
probably damaging |
Het |
| Nr1d1 |
T |
G |
11: 98,771,814 (GRCm38) |
K118Q |
probably damaging |
Het |
| Ntm |
T |
C |
9: 29,109,431 (GRCm38) |
E164G |
probably damaging |
Het |
| Olfr576 |
A |
G |
7: 102,966,024 (GRCm38) |
N308S |
probably benign |
Het |
| Parp1 |
G |
T |
1: 180,587,329 (GRCm38) |
A411S |
probably benign |
Het |
| Pds5b |
A |
G |
5: 150,800,854 (GRCm38) |
T1301A |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,058,617 (GRCm38) |
V3954A |
probably benign |
Het |
| Pkp4 |
A |
T |
2: 59,350,608 (GRCm38) |
K739I |
probably damaging |
Het |
| Pla2g4e |
T |
C |
2: 120,186,446 (GRCm38) |
|
probably benign |
Het |
| Plod3 |
G |
C |
5: 136,988,146 (GRCm38) |
A50P |
probably benign |
Het |
| Ralgds |
T |
C |
2: 28,552,095 (GRCm38) |
L96P |
probably damaging |
Het |
| Rbm6 |
A |
T |
9: 107,847,247 (GRCm38) |
|
probably benign |
Het |
| Scp2d1 |
T |
C |
2: 144,824,167 (GRCm38) |
L142P |
probably damaging |
Het |
| Setd5 |
AT |
ATT |
6: 113,111,320 (GRCm38) |
|
probably benign |
Het |
| Sgf29 |
G |
A |
7: 126,671,777 (GRCm38) |
C143Y |
probably damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,541,099 (GRCm38) |
I156T |
probably benign |
Het |
| Stambpl1 |
A |
G |
19: 34,234,046 (GRCm38) |
Q169R |
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,567,006 (GRCm38) |
|
probably benign |
Het |
| Trip11 |
A |
T |
12: 101,884,316 (GRCm38) |
I878N |
probably damaging |
Het |
| Ttf1 |
C |
T |
2: 29,065,476 (GRCm38) |
S284L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,811,243 (GRCm38) |
L5176Q |
possibly damaging |
Het |
| Ugt2b5 |
A |
T |
5: 87,139,723 (GRCm38) |
V195E |
probably damaging |
Het |
| Vmn1r14 |
T |
A |
6: 57,233,823 (GRCm38) |
Y85N |
probably benign |
Het |
| Wdyhv1 |
T |
C |
15: 58,152,714 (GRCm38) |
S120P |
probably benign |
Het |
| Zfp131 |
C |
T |
13: 119,776,018 (GRCm38) |
R268H |
probably damaging |
Het |
|
| Other mutations in Nek4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01124:Nek4
|
APN |
14 |
30,970,262 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01746:Nek4
|
APN |
14 |
30,977,584 (GRCm38) |
splice site |
probably null |
|
|
IGL02403:Nek4
|
APN |
14 |
30,964,051 (GRCm38) |
nonsense |
probably null |
|
|
IGL02606:Nek4
|
APN |
14 |
30,963,959 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03261:Nek4
|
APN |
14 |
30,975,290 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0266:Nek4
|
UTSW |
14 |
30,957,296 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0436:Nek4
|
UTSW |
14 |
30,970,472 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0520:Nek4
|
UTSW |
14 |
30,959,306 (GRCm38) |
splice site |
probably benign |
|
|
R0523:Nek4
|
UTSW |
14 |
30,980,038 (GRCm38) |
missense |
probably benign |
0.18 |
|
R0849:Nek4
|
UTSW |
14 |
30,957,296 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1167:Nek4
|
UTSW |
14 |
30,974,345 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1465:Nek4
|
UTSW |
14 |
30,956,887 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1465:Nek4
|
UTSW |
14 |
30,956,887 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1484:Nek4
|
UTSW |
14 |
30,982,333 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R1563:Nek4
|
UTSW |
14 |
30,982,451 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1616:Nek4
|
UTSW |
14 |
30,987,137 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1670:Nek4
|
UTSW |
14 |
30,982,427 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1991:Nek4
|
UTSW |
14 |
30,956,953 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2045:Nek4
|
UTSW |
14 |
30,953,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2157:Nek4
|
UTSW |
14 |
30,979,968 (GRCm38) |
splice site |
probably null |
|
|
R2925:Nek4
|
UTSW |
14 |
30,951,710 (GRCm38) |
missense |
probably benign |
0.29 |
|
R5964:Nek4
|
UTSW |
14 |
30,957,079 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6030:Nek4
|
UTSW |
14 |
30,956,933 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6030:Nek4
|
UTSW |
14 |
30,956,933 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6171:Nek4
|
UTSW |
14 |
30,970,347 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7145:Nek4
|
UTSW |
14 |
30,982,348 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7286:Nek4
|
UTSW |
14 |
30,957,292 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8098:Nek4
|
UTSW |
14 |
30,963,951 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8300:Nek4
|
UTSW |
14 |
30,970,395 (GRCm38) |
missense |
|
|
|
R8397:Nek4
|
UTSW |
14 |
30,970,548 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8481:Nek4
|
UTSW |
14 |
30,964,034 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8962:Nek4
|
UTSW |
14 |
30,953,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8988:Nek4
|
UTSW |
14 |
30,963,967 (GRCm38) |
missense |
|
|
|
R9003:Nek4
|
UTSW |
14 |
30,982,514 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9531:Nek4
|
UTSW |
14 |
30,970,350 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9608:Nek4
|
UTSW |
14 |
30,953,947 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9748:Nek4
|
UTSW |
14 |
30,987,157 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R9777:Nek4
|
UTSW |
14 |
30,984,444 (GRCm38) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCTACTTCTGAACCGACAG -3'
(R):5'- TGGTGAAATCCTTCCCAGTCTATG -3'
Sequencing Primer
(F):5'- GAACCGACAGACTGTTTTCTTAC -3'
(R):5'- CAGTAGTTGTGAATGTGACAGTACC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation