Incidental Mutation 'R4638:Nek7'
| ID |
350778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nek7
|
| Ensembl Gene |
ENSMUSG00000026393 |
| Gene Name |
NIMA (never in mitosis gene a)-related expressed kinase 7 |
| Synonyms |
2810460C19Rik |
| MMRRC Submission |
041900-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4638 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
138411575-138547481 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 138472038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 34
(F34Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027642]
[ENSMUST00000186017]
[ENSMUST00000187407]
|
| AlphaFold |
Q9ES74 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027642
AA Change: F34Y
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000027642
Gene: ENSMUSG00000026393
AA Change: F34Y
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
34 |
299 |
1.86e-91 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186017
AA Change: F34Y
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000140903
Gene: ENSMUSG00000026393
AA Change: F34Y
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
34 |
299 |
1.86e-91 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187407
AA Change: F34Y
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000140635
Gene: ENSMUSG00000026393
AA Change: F34Y
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
34 |
299 |
1.86e-91 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188729
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191549
|
| Meta Mutation Damage Score |
0.0870 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
91% (40/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NIMA-related kinases share high amino acid sequence identity with the gene product of the Aspergillus nidulans 'never in mitosis A' gene, which controls initiation of mitosis.[supplied by OMIM, Jul 2002]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit infertility, decreased susceptibility to EAE, decreased body weight, abnormal gait, slight parasis and abnormal immune system response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
G |
17: 84,999,369 (GRCm39) |
D155G |
probably damaging |
Het |
| Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
| B4galt7 |
T |
C |
13: 55,747,959 (GRCm39) |
|
probably benign |
Het |
| Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Cebpa |
A |
G |
7: 34,819,687 (GRCm39) |
N282D |
probably damaging |
Het |
| Cngb1 |
G |
A |
8: 95,992,647 (GRCm39) |
T196M |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,929,581 (GRCm39) |
M619V |
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,450,151 (GRCm39) |
I566N |
probably damaging |
Het |
| Dpyd |
A |
T |
3: 119,059,726 (GRCm39) |
S808C |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,143,376 (GRCm39) |
V2893A |
probably benign |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Krba1 |
T |
A |
6: 48,386,685 (GRCm39) |
L441* |
probably null |
Het |
| Lama5 |
T |
C |
2: 179,832,206 (GRCm39) |
T1712A |
possibly damaging |
Het |
| Lnpep |
G |
A |
17: 17,795,569 (GRCm39) |
T314I |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,871,379 (GRCm39) |
|
probably null |
Het |
| Naa16 |
C |
A |
14: 79,577,473 (GRCm39) |
|
probably null |
Het |
| Or12e7 |
T |
C |
2: 87,288,327 (GRCm39) |
S273P |
possibly damaging |
Het |
| Or2ag17 |
A |
T |
7: 106,390,205 (GRCm39) |
M1K |
probably null |
Het |
| Park7 |
G |
A |
4: 150,991,556 (GRCm39) |
Q45* |
probably null |
Het |
| Pclo |
C |
A |
5: 14,730,447 (GRCm39) |
S2983* |
probably null |
Het |
| Pth1r |
A |
G |
9: 110,556,141 (GRCm39) |
L244P |
possibly damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Slc11a1 |
G |
A |
1: 74,414,437 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
T |
G |
16: 33,410,693 (GRCm39) |
S200A |
possibly damaging |
Het |
| Slc7a10 |
A |
G |
7: 34,897,355 (GRCm39) |
E262G |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,795,149 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
A |
G |
2: 26,255,314 (GRCm39) |
L1070P |
probably damaging |
Het |
| Sp2 |
A |
G |
11: 96,848,300 (GRCm39) |
I435T |
possibly damaging |
Het |
| Srp72 |
A |
G |
5: 77,138,142 (GRCm39) |
E309G |
probably benign |
Het |
| Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
| Tie1 |
C |
T |
4: 118,341,039 (GRCm39) |
R314H |
probably benign |
Het |
| Tmem198 |
G |
T |
1: 75,456,351 (GRCm39) |
G2* |
probably null |
Het |
| Tmem81 |
A |
G |
1: 132,435,943 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,652,821 (GRCm39) |
V10938E |
possibly damaging |
Het |
| Zfp773 |
T |
A |
7: 7,138,335 (GRCm39) |
Y100F |
probably damaging |
Het |
|
| Other mutations in Nek7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02151:Nek7
|
APN |
1 |
138,414,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Beauties
|
UTSW |
1 |
138,462,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cuties
|
UTSW |
1 |
138,471,980 (GRCm39) |
nonsense |
probably null |
|
|
Doubletake
|
UTSW |
1 |
138,443,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Nek7
|
UTSW |
1 |
138,471,942 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0103:Nek7
|
UTSW |
1 |
138,471,980 (GRCm39) |
nonsense |
probably null |
|
|
R0103:Nek7
|
UTSW |
1 |
138,471,980 (GRCm39) |
nonsense |
probably null |
|
|
R0646:Nek7
|
UTSW |
1 |
138,443,431 (GRCm39) |
frame shift |
probably null |
|
|
R3953:Nek7
|
UTSW |
1 |
138,462,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3955:Nek7
|
UTSW |
1 |
138,462,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3957:Nek7
|
UTSW |
1 |
138,462,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4750:Nek7
|
UTSW |
1 |
138,426,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5101:Nek7
|
UTSW |
1 |
138,443,431 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5331:Nek7
|
UTSW |
1 |
138,426,312 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5838:Nek7
|
UTSW |
1 |
138,462,101 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6083:Nek7
|
UTSW |
1 |
138,443,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6302:Nek7
|
UTSW |
1 |
138,426,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6855:Nek7
|
UTSW |
1 |
138,443,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6857:Nek7
|
UTSW |
1 |
138,443,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6941:Nek7
|
UTSW |
1 |
138,430,376 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7140:Nek7
|
UTSW |
1 |
138,414,793 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7808:Nek7
|
UTSW |
1 |
138,489,509 (GRCm39) |
start gained |
probably benign |
|
|
Z1088:Nek7
|
UTSW |
1 |
138,443,363 (GRCm39) |
missense |
probably null |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAAACTTAGTTTCCACCCC -3'
(R):5'- GGAACTCAAATATCTTTGGTGTGGG -3'
Sequencing Primer
(F):5'- GTTTCATGACCCAAATCATTCCAG -3'
(R):5'- GATGTTTGCAACTTTACTGTAGGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation