Incidental Mutation 'IGL03112:Nek6'
| ID |
419222 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nek6
|
| Ensembl Gene |
ENSMUSG00000026749 |
| Gene Name |
NIMA (never in mitosis gene a)-related expressed kinase 6 |
| Synonyms |
1300007C09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
IGL03112
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
38401655-38484618 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38450914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 106
(I106V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054234]
[ENSMUST00000112895]
[ENSMUST00000112902]
[ENSMUST00000151683]
[ENSMUST00000156726]
|
| AlphaFold |
Q9ES70 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054234
AA Change: I106V
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049723
Gene: ENSMUSG00000026749
AA Change: I106V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
45 |
310 |
3.01e-91 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112895
AA Change: I106V
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108516
Gene: ENSMUSG00000026749
AA Change: I106V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
45 |
310 |
3.01e-91 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112902
AA Change: I95V
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108523
Gene: ENSMUSG00000026749
AA Change: I95V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
34 |
299 |
3.01e-91 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151683
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156726
AA Change: I106V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114376
Gene: ENSMUSG00000026749
AA Change: I106V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
45 |
108 |
6.6e-13 |
PFAM |
|
Pfam:Pkinase_Tyr
|
45 |
108 |
1.5e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203964
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
T |
C |
8: 43,974,549 (GRCm39) |
N151S |
probably benign |
Het |
| Adgre1 |
G |
A |
17: 57,755,029 (GRCm39) |
|
probably null |
Het |
| Apol11a |
T |
A |
15: 77,401,509 (GRCm39) |
L332Q |
probably damaging |
Het |
| B430306N03Rik |
C |
T |
17: 48,623,834 (GRCm39) |
S45L |
probably benign |
Het |
| Cend1 |
G |
A |
7: 141,007,640 (GRCm39) |
T60M |
probably benign |
Het |
| Col6a3 |
C |
A |
1: 90,739,242 (GRCm39) |
E329* |
probably null |
Het |
| Col9a3 |
A |
G |
2: 180,249,435 (GRCm39) |
R266G |
possibly damaging |
Het |
| Defb48 |
C |
T |
14: 63,221,854 (GRCm39) |
|
probably benign |
Het |
| Eps8l2 |
T |
G |
7: 140,941,649 (GRCm39) |
L640R |
probably damaging |
Het |
| Exoc2 |
T |
A |
13: 31,090,570 (GRCm39) |
|
probably benign |
Het |
| Fam149a |
C |
T |
8: 45,801,580 (GRCm39) |
V514M |
possibly damaging |
Het |
| Fbxo25 |
A |
T |
8: 13,971,034 (GRCm39) |
D74V |
probably benign |
Het |
| Gm11733 |
A |
G |
11: 117,377,966 (GRCm39) |
*126W |
probably null |
Het |
| Grm8 |
C |
T |
6: 27,363,262 (GRCm39) |
C751Y |
probably damaging |
Het |
| Kctd16 |
A |
T |
18: 40,391,853 (GRCm39) |
D147V |
probably benign |
Het |
| Lclat1 |
A |
T |
17: 73,546,742 (GRCm39) |
T220S |
probably damaging |
Het |
| Lgi1 |
T |
A |
19: 38,272,478 (GRCm39) |
H116Q |
possibly damaging |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Lsm4 |
T |
A |
8: 71,130,656 (GRCm39) |
I60N |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,177,601 (GRCm39) |
Y178N |
probably damaging |
Het |
| Mybl2 |
A |
G |
2: 162,904,456 (GRCm39) |
E89G |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 113,021,856 (GRCm39) |
E512G |
probably benign |
Het |
| Myrfl |
A |
T |
10: 116,639,311 (GRCm39) |
S583T |
probably benign |
Het |
| Oas1a |
A |
T |
5: 121,036,412 (GRCm39) |
D338E |
possibly damaging |
Het |
| Or10ag52 |
T |
A |
2: 87,043,944 (GRCm39) |
I236N |
probably damaging |
Het |
| Or4a76 |
G |
A |
2: 89,460,678 (GRCm39) |
T188I |
probably benign |
Het |
| Or6c1 |
A |
G |
10: 129,517,792 (GRCm39) |
V272A |
probably benign |
Het |
| Pitrm1 |
C |
A |
13: 6,615,044 (GRCm39) |
Q508K |
probably benign |
Het |
| S100b |
A |
G |
10: 76,095,808 (GRCm39) |
D62G |
probably damaging |
Het |
| Sesn3 |
A |
G |
9: 14,221,557 (GRCm39) |
H119R |
probably damaging |
Het |
| Sez6l |
T |
A |
5: 112,621,333 (GRCm39) |
E247V |
probably damaging |
Het |
| Shoc1 |
G |
T |
4: 59,049,355 (GRCm39) |
Q1069K |
probably benign |
Het |
| Shq1 |
C |
A |
6: 100,550,574 (GRCm39) |
E455* |
probably null |
Het |
| Slc9b1 |
T |
A |
3: 135,103,433 (GRCm39) |
M521K |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,413,855 (GRCm39) |
F543L |
probably damaging |
Het |
| Tcf25 |
T |
C |
8: 124,109,258 (GRCm39) |
|
probably benign |
Het |
| Usp48 |
C |
A |
4: 137,335,375 (GRCm39) |
Q183K |
probably damaging |
Het |
| Vmn1r178 |
G |
A |
7: 23,593,086 (GRCm39) |
G45S |
probably damaging |
Het |
| Vmn1r237 |
T |
A |
17: 21,534,368 (GRCm39) |
Y30* |
probably null |
Het |
|
| Other mutations in Nek6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4563:Nek6
|
UTSW |
2 |
38,475,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation