Incidental Mutation 'IGL01561:Nek3'
| ID |
90853 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nek3
|
| Ensembl Gene |
ENSMUSG00000031478 |
| Gene Name |
NIMA (never in mitosis gene a)-related expressed kinase 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01561
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
22618299-22656451 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22619472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 440
(F440S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033865]
[ENSMUST00000110730]
[ENSMUST00000169834]
[ENSMUST00000178324]
[ENSMUST00000209656]
|
| AlphaFold |
Q9R0A5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033865
AA Change: F438S
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000033865
Gene: ENSMUSG00000031478
AA Change: F438S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
259 |
1.11e-89 |
SMART |
|
Blast:S_TKc
|
267 |
444 |
8e-49 |
BLAST |
|
low complexity region
|
471 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
495 |
506 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110730
AA Change: F440S
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106358
Gene: ENSMUSG00000031478
AA Change: F440S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
259 |
1.11e-89 |
SMART |
|
Blast:S_TKc
|
267 |
446 |
1e-48 |
BLAST |
|
low complexity region
|
473 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
497 |
508 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151371
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169834
|
| SMART Domains |
Protein: ENSMUSP00000126705
Gene: ENSMUSG00000037738
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
255 |
3.77e-92 |
SMART |
|
Blast:S_TKc
|
396 |
497 |
3e-37 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178324
AA Change: F440S
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136876
Gene: ENSMUSG00000031478
AA Change: F440S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
259 |
1.11e-89 |
SMART |
|
Blast:S_TKc
|
267 |
446 |
1e-48 |
BLAST |
|
low complexity region
|
473 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
497 |
508 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209656
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210824
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp1 |
G |
A |
11: 5,821,349 (GRCm39) |
D583N |
probably damaging |
Het |
| Aoah |
G |
T |
13: 21,189,264 (GRCm39) |
D496Y |
probably damaging |
Het |
| Aoah |
T |
C |
13: 21,089,905 (GRCm39) |
|
probably benign |
Het |
| Cdh10 |
G |
T |
15: 19,000,012 (GRCm39) |
A486S |
possibly damaging |
Het |
| Cers2 |
A |
T |
3: 95,229,472 (GRCm39) |
|
probably null |
Het |
| Clec4a4 |
T |
A |
6: 123,000,975 (GRCm39) |
C229* |
probably null |
Het |
| Col15a1 |
T |
C |
4: 47,312,118 (GRCm39) |
V1311A |
possibly damaging |
Het |
| Fpr-rs3 |
C |
T |
17: 20,844,859 (GRCm39) |
G94D |
probably damaging |
Het |
| Fsd1 |
T |
A |
17: 56,302,363 (GRCm39) |
M269K |
probably benign |
Het |
| Golga2 |
A |
G |
2: 32,186,689 (GRCm39) |
M73V |
probably benign |
Het |
| Gusb |
A |
T |
5: 130,026,927 (GRCm39) |
V388E |
probably damaging |
Het |
| Heg1 |
A |
G |
16: 33,587,038 (GRCm39) |
N1267S |
probably benign |
Het |
| Htra4 |
A |
C |
8: 25,523,587 (GRCm39) |
I326S |
probably damaging |
Het |
| Klhl33 |
T |
C |
14: 51,128,888 (GRCm39) |
I780M |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,578,556 (GRCm39) |
S181P |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,202,851 (GRCm39) |
H1882R |
probably damaging |
Het |
| Muc13 |
A |
G |
16: 33,626,411 (GRCm39) |
K317E |
possibly damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,540,172 (GRCm39) |
R831H |
probably damaging |
Het |
| Or10w1 |
T |
C |
19: 13,632,269 (GRCm39) |
F159L |
probably benign |
Het |
| Or1q1 |
T |
A |
2: 36,886,955 (GRCm39) |
F44L |
probably benign |
Het |
| Or7e173 |
T |
C |
9: 19,938,818 (GRCm39) |
M139V |
probably benign |
Het |
| Palmd |
A |
T |
3: 116,717,742 (GRCm39) |
S252T |
probably damaging |
Het |
| Piezo2 |
C |
A |
18: 63,257,685 (GRCm39) |
M344I |
probably benign |
Het |
| Pygo1 |
T |
A |
9: 72,852,570 (GRCm39) |
N252K |
probably damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,106,221 (GRCm39) |
Q262R |
probably benign |
Het |
| Xpo1 |
T |
C |
11: 23,232,706 (GRCm39) |
Y409H |
possibly damaging |
Het |
| Zan |
T |
A |
5: 137,462,128 (GRCm39) |
E1017V |
unknown |
Het |
|
| Other mutations in Nek3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00569:Nek3
|
APN |
8 |
22,648,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02799:Nek3
|
APN |
8 |
22,648,735 (GRCm39) |
splice site |
probably benign |
|
|
IGL02826:Nek3
|
APN |
8 |
22,650,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0001:Nek3
|
UTSW |
8 |
22,648,628 (GRCm39) |
splice site |
probably benign |
|
|
R0390:Nek3
|
UTSW |
8 |
22,618,745 (GRCm39) |
unclassified |
probably benign |
|
|
R1367:Nek3
|
UTSW |
8 |
22,650,377 (GRCm39) |
splice site |
probably benign |
|
|
R1565:Nek3
|
UTSW |
8 |
22,622,217 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1758:Nek3
|
UTSW |
8 |
22,650,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1924:Nek3
|
UTSW |
8 |
22,647,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3905:Nek3
|
UTSW |
8 |
22,623,107 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4078:Nek3
|
UTSW |
8 |
22,622,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4089:Nek3
|
UTSW |
8 |
22,639,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4621:Nek3
|
UTSW |
8 |
22,647,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5207:Nek3
|
UTSW |
8 |
22,622,243 (GRCm39) |
intron |
probably benign |
|
|
R5432:Nek3
|
UTSW |
8 |
22,638,748 (GRCm39) |
splice site |
probably null |
|
|
R5790:Nek3
|
UTSW |
8 |
22,621,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5790:Nek3
|
UTSW |
8 |
22,621,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6856:Nek3
|
UTSW |
8 |
22,619,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8021:Nek3
|
UTSW |
8 |
22,647,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8056:Nek3
|
UTSW |
8 |
22,619,359 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8129:Nek3
|
UTSW |
8 |
22,639,908 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8132:Nek3
|
UTSW |
8 |
22,647,036 (GRCm39) |
nonsense |
probably null |
|
|
R9213:Nek3
|
UTSW |
8 |
22,638,677 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9708:Nek3
|
UTSW |
8 |
22,618,742 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation