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: 0.368)
|
Stock # |
R4342 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
30673334-30710778 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30675863 bp (GRCm39)
|
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: 45,827,421 (GRCm39) |
C488R |
probably benign |
Het |
Adamts19 |
A |
T |
18: 59,075,572 (GRCm39) |
H489L |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,989,447 (GRCm39) |
V3577A |
possibly damaging |
Het |
Ajm1 |
A |
G |
2: 25,469,120 (GRCm39) |
Y264H |
possibly damaging |
Het |
Arhgap44 |
G |
A |
11: 64,902,887 (GRCm39) |
R401* |
probably null |
Het |
Cbx3-ps2 |
T |
C |
13: 65,707,502 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc174 |
T |
A |
6: 91,862,337 (GRCm39) |
L86* |
probably null |
Het |
Cd38 |
A |
C |
5: 44,026,431 (GRCm39) |
I72L |
probably benign |
Het |
Cers4 |
T |
C |
8: 4,571,223 (GRCm39) |
L264P |
probably damaging |
Het |
Cldn23 |
A |
G |
8: 36,292,652 (GRCm39) |
S279P |
probably benign |
Het |
Cth |
T |
A |
3: 157,630,613 (GRCm39) |
T19S |
probably damaging |
Het |
Dnajc22 |
T |
A |
15: 99,002,345 (GRCm39) |
L330* |
probably null |
Het |
Epas1 |
G |
A |
17: 87,131,228 (GRCm39) |
C336Y |
probably damaging |
Het |
Evi5l |
A |
C |
8: 4,233,492 (GRCm39) |
|
probably benign |
Het |
Fbxl2 |
A |
T |
9: 113,814,374 (GRCm39) |
H272Q |
probably benign |
Het |
Fgd3 |
C |
T |
13: 49,427,185 (GRCm39) |
|
probably null |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Fscn1 |
T |
C |
5: 142,957,776 (GRCm39) |
Y308H |
probably damaging |
Het |
Garin3 |
A |
G |
11: 46,298,043 (GRCm39) |
D449G |
possibly damaging |
Het |
Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
Gpatch2l |
T |
C |
12: 86,307,453 (GRCm39) |
V277A |
probably benign |
Het |
Greb1l |
T |
A |
18: 10,544,561 (GRCm39) |
M1385K |
probably benign |
Het |
Grin2a |
A |
G |
16: 9,471,453 (GRCm39) |
I605T |
possibly damaging |
Het |
Hoxc11 |
C |
T |
15: 102,863,106 (GRCm39) |
S49F |
probably damaging |
Het |
Igf2r |
C |
T |
17: 12,928,398 (GRCm39) |
E982K |
possibly damaging |
Het |
Ighv10-3 |
A |
T |
12: 114,487,124 (GRCm39) |
M99K |
possibly damaging |
Het |
Itgb4 |
A |
T |
11: 115,879,555 (GRCm39) |
T614S |
probably benign |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Mast4 |
A |
G |
13: 102,910,756 (GRCm39) |
V461A |
probably damaging |
Het |
Mcts2 |
G |
A |
2: 152,529,584 (GRCm39) |
V132M |
probably damaging |
Het |
Mical3 |
C |
A |
6: 120,911,799 (GRCm39) |
E1083* |
probably null |
Het |
Nbeal2 |
A |
G |
9: 110,460,861 (GRCm39) |
|
probably benign |
Het |
Nfasc |
A |
G |
1: 132,559,443 (GRCm39) |
F229S |
probably damaging |
Het |
Nhsl1 |
T |
C |
10: 18,402,437 (GRCm39) |
F1221S |
probably damaging |
Het |
Nr1d1 |
T |
G |
11: 98,662,640 (GRCm39) |
K118Q |
probably damaging |
Het |
Ntaq1 |
T |
C |
15: 58,016,110 (GRCm39) |
S120P |
probably benign |
Het |
Ntm |
T |
C |
9: 29,020,727 (GRCm39) |
E164G |
probably damaging |
Het |
Or51a7 |
A |
G |
7: 102,615,231 (GRCm39) |
N308S |
probably benign |
Het |
Parp1 |
G |
T |
1: 180,414,894 (GRCm39) |
A411S |
probably benign |
Het |
Pds5b |
A |
G |
5: 150,724,319 (GRCm39) |
T1301A |
probably benign |
Het |
Pkhd1 |
A |
G |
1: 20,128,841 (GRCm39) |
V3954A |
probably benign |
Het |
Pkp4 |
A |
T |
2: 59,180,952 (GRCm39) |
K739I |
probably damaging |
Het |
Pla2g4e |
T |
C |
2: 120,016,927 (GRCm39) |
|
probably benign |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Ralgds |
T |
C |
2: 28,442,107 (GRCm39) |
L96P |
probably damaging |
Het |
Rbm6 |
A |
T |
9: 107,724,446 (GRCm39) |
|
probably benign |
Het |
Scp2d1 |
T |
C |
2: 144,666,087 (GRCm39) |
L142P |
probably damaging |
Het |
Setd5 |
AT |
ATT |
6: 113,088,281 (GRCm39) |
|
probably benign |
Het |
Sgf29 |
G |
A |
7: 126,270,949 (GRCm39) |
C143Y |
probably damaging |
Het |
Slc22a12 |
A |
G |
19: 6,591,129 (GRCm39) |
I156T |
probably benign |
Het |
Stambpl1 |
A |
G |
19: 34,211,446 (GRCm39) |
Q169R |
probably benign |
Het |
Tex2 |
T |
C |
11: 106,457,832 (GRCm39) |
|
probably benign |
Het |
Trip11 |
A |
T |
12: 101,850,575 (GRCm39) |
I878N |
probably damaging |
Het |
Ttf1 |
C |
T |
2: 28,955,488 (GRCm39) |
S284L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ugt2b5 |
A |
T |
5: 87,287,582 (GRCm39) |
V195E |
probably damaging |
Het |
Vmn1r14 |
T |
A |
6: 57,210,808 (GRCm39) |
Y85N |
probably benign |
Het |
Zfp131 |
C |
T |
13: 120,237,554 (GRCm39) |
R268H |
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 |
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'- ACGCTACTTCTGAACCGACAG -3'
(R):5'- TGGTGAAATCCTTCCCAGTCTATG -3'
Sequencing Primer
(F):5'- GAACCGACAGACTGTTTTCTTAC -3'
(R):5'- CAGTAGTTGTGAATGTGACAGTACC -3'
|
Posted On |
2015-06-24 |