Incidental Mutation 'R4563:Nek6'
| ID |
343181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nek6
|
| Ensembl Gene |
ENSMUSG00000026749 |
| Gene Name |
NIMA (never in mitosis gene a)-related expressed kinase 6 |
| Synonyms |
1300007C09Rik |
| MMRRC Submission |
041788-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R4563 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
38401655-38484618 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 38475305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 282
(V282G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028083]
[ENSMUST00000054234]
[ENSMUST00000112895]
[ENSMUST00000112902]
|
| AlphaFold |
Q9ES70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028083
|
| SMART Domains |
Protein: ENSMUSP00000028083
Gene: ENSMUSG00000026750
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
40 |
221 |
5.4e-52 |
PFAM |
|
Pfam:Pr_beta_C
|
235 |
271 |
2e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054234
AA Change: V282G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049723
Gene: ENSMUSG00000026749
AA Change: V282G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
45 |
310 |
3.01e-91 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112895
AA Change: V282G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108516
Gene: ENSMUSG00000026749
AA Change: V282G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
45 |
310 |
3.01e-91 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112902
AA Change: V271G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108523
Gene: ENSMUSG00000026749
AA Change: V271G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
34 |
299 |
3.01e-91 |
SMART |
|
| Meta Mutation Damage Score |
0.7948 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (40/40) |
| 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 kinase required for progression through the metaphase portion of mitosis. Inhibition of the encoded protein can lead to apoptosis. This protein also can enhance tumorigenesis by suppressing tumor cell senescence. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: No significant homozygous or heterozygous mutant phenotype was detected in a high throughput screen of a targeted mutation, however these homozygotes exhibit an increased response of the heart to induced stress, with aggravated cardiac hypertrophy. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(128) : Targeted(3) Gene trapped(125)
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
G |
12: 21,382,089 (GRCm39) |
C591R |
probably damaging |
Het |
| Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
| Calm5 |
C |
A |
13: 3,904,402 (GRCm39) |
S32* |
probably null |
Het |
| Ccdc198 |
T |
A |
14: 49,471,955 (GRCm39) |
M152L |
probably benign |
Het |
| Cln3 |
G |
T |
7: 126,171,730 (GRCm39) |
S346R |
probably damaging |
Het |
| G6pd2 |
G |
A |
5: 61,967,686 (GRCm39) |
R487H |
possibly damaging |
Het |
| Glipr2 |
A |
T |
4: 43,977,600 (GRCm39) |
N77Y |
probably damaging |
Het |
| Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,766,264 (GRCm39) |
V37A |
probably benign |
Het |
| Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
| Mcm3 |
G |
T |
1: 20,879,869 (GRCm39) |
R543S |
probably benign |
Het |
| Mgat4a |
T |
C |
1: 37,505,660 (GRCm39) |
D43G |
probably damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,928,457 (GRCm39) |
Y703H |
probably benign |
Het |
| Ncf2 |
T |
C |
1: 152,683,976 (GRCm39) |
|
probably benign |
Het |
| Nhlrc1 |
T |
C |
13: 47,167,666 (GRCm39) |
D197G |
possibly damaging |
Het |
| Nup93 |
G |
T |
8: 95,034,520 (GRCm39) |
V612F |
probably damaging |
Het |
| Or5be3 |
C |
T |
2: 86,864,028 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or9i14 |
A |
G |
19: 13,792,646 (GRCm39) |
F103L |
probably benign |
Het |
| Pafah1b2 |
T |
C |
9: 45,887,404 (GRCm39) |
K36E |
probably damaging |
Het |
| Paqr9 |
A |
G |
9: 95,442,997 (GRCm39) |
E329G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,571,383 (GRCm39) |
Q256R |
probably damaging |
Het |
| Pctp |
A |
T |
11: 89,879,578 (GRCm39) |
D94E |
probably benign |
Het |
| Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
| Pex14 |
A |
T |
4: 149,126,225 (GRCm39) |
V41D |
probably damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Rasal2 |
T |
C |
1: 157,003,561 (GRCm39) |
K366R |
probably damaging |
Het |
| Rprd1a |
A |
C |
18: 24,640,160 (GRCm39) |
|
probably null |
Het |
| Senp8 |
A |
C |
9: 59,657,546 (GRCm39) |
M1R |
probably null |
Het |
| Slc49a4 |
T |
C |
16: 35,518,312 (GRCm39) |
Y467C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
| Strc |
T |
C |
2: 121,196,286 (GRCm39) |
T1581A |
probably benign |
Het |
| Tmem117 |
T |
C |
15: 94,536,035 (GRCm39) |
I23T |
possibly damaging |
Het |
| Ttc13 |
A |
G |
8: 125,402,016 (GRCm39) |
L657P |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,443,622 (GRCm39) |
|
probably benign |
Het |
| Vmn1r125 |
A |
G |
7: 21,006,308 (GRCm39) |
T69A |
probably damaging |
Het |
|
| Other mutations in Nek6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03112:Nek6
|
APN |
2 |
38,450,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0005:Nek6
|
UTSW |
2 |
38,459,749 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0014:Nek6
|
UTSW |
2 |
38,448,856 (GRCm39) |
splice site |
probably benign |
|
|
R0674:Nek6
|
UTSW |
2 |
38,448,916 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0709:Nek6
|
UTSW |
2 |
38,447,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0835:Nek6
|
UTSW |
2 |
38,459,643 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1548:Nek6
|
UTSW |
2 |
38,458,907 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1773:Nek6
|
UTSW |
2 |
38,472,431 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1901:Nek6
|
UTSW |
2 |
38,472,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4080:Nek6
|
UTSW |
2 |
38,440,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6207:Nek6
|
UTSW |
2 |
38,447,846 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6865:Nek6
|
UTSW |
2 |
38,459,678 (GRCm39) |
missense |
probably benign |
|
|
R7339:Nek6
|
UTSW |
2 |
38,450,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8536:Nek6
|
UTSW |
2 |
38,404,797 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGGTCTCAAAGCATCGC -3'
(R):5'- ACCATAGCCCAGCTGTTTTC -3'
Sequencing Primer
(F):5'- AGCATCGCCTTTGGAACTAG -3'
(R):5'- CAGCTGAGAGTCCTCTAGTCTTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation