Incidental Mutation 'R3955:Nek7'
ID |
310623 |
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 |
040832-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3955 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
138411575-138547481 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 138462127 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 79
(C79F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140635
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027642]
[ENSMUST00000186017]
[ENSMUST00000187407]
|
AlphaFold |
Q9ES74 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027642
AA Change: C79F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027642 Gene: ENSMUSG00000026393 AA Change: C79F
Domain | Start | End | E-Value | Type |
S_TKc
|
34 |
299 |
1.86e-91 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000186017
AA Change: C79F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140903 Gene: ENSMUSG00000026393 AA Change: C79F
Domain | Start | End | E-Value | Type |
S_TKc
|
34 |
299 |
1.86e-91 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187407
AA Change: C79F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140635 Gene: ENSMUSG00000026393 AA Change: C79F
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 |
0.7988 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
100% (56/56) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,773,834 (GRCm39) |
T1008A |
probably benign |
Het |
Abcc5 |
G |
C |
16: 20,224,293 (GRCm39) |
H97D |
probably damaging |
Het |
Acbd7 |
T |
C |
2: 3,337,250 (GRCm39) |
S2P |
probably benign |
Het |
Acta2 |
G |
T |
19: 34,229,126 (GRCm39) |
|
probably benign |
Het |
Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
Ajm1 |
G |
T |
2: 25,467,583 (GRCm39) |
S776* |
probably null |
Het |
Ccnq |
C |
A |
11: 78,641,849 (GRCm39) |
E214* |
probably null |
Het |
Cd69 |
A |
T |
6: 129,245,343 (GRCm39) |
|
probably null |
Het |
Cpsf3 |
A |
G |
12: 21,363,806 (GRCm39) |
D632G |
probably benign |
Het |
Dennd5a |
A |
G |
7: 109,504,906 (GRCm39) |
M868T |
probably benign |
Het |
Dscc1 |
T |
C |
15: 54,946,949 (GRCm39) |
T259A |
probably benign |
Het |
Dsg4 |
G |
A |
18: 20,582,432 (GRCm39) |
|
probably null |
Het |
Igfn1 |
A |
G |
1: 135,894,918 (GRCm39) |
Y1883H |
possibly damaging |
Het |
Insyn1 |
A |
T |
9: 58,406,906 (GRCm39) |
D272V |
probably damaging |
Het |
Krt20 |
G |
A |
11: 99,323,037 (GRCm39) |
Q262* |
probably null |
Het |
Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
Lmod2 |
G |
T |
6: 24,603,870 (GRCm39) |
V282L |
probably benign |
Het |
Lrrc49 |
A |
G |
9: 60,578,642 (GRCm39) |
I228T |
probably damaging |
Het |
Matn1 |
G |
A |
4: 130,678,726 (GRCm39) |
|
probably null |
Het |
Nmt2 |
A |
G |
2: 3,313,535 (GRCm39) |
D132G |
probably benign |
Het |
Nup210l |
A |
T |
3: 90,100,361 (GRCm39) |
R1462S |
possibly damaging |
Het |
Obscn |
G |
A |
11: 58,927,594 (GRCm39) |
S6118F |
probably damaging |
Het |
Or14j6 |
A |
T |
17: 38,214,500 (GRCm39) |
H21L |
probably benign |
Het |
Or1j21 |
T |
A |
2: 36,683,565 (GRCm39) |
L106M |
probably benign |
Het |
Or4c12 |
T |
A |
2: 89,774,172 (GRCm39) |
M96L |
possibly damaging |
Het |
Or51f1 |
A |
G |
7: 102,505,824 (GRCm39) |
C222R |
probably damaging |
Het |
Or5al1 |
A |
G |
2: 85,990,282 (GRCm39) |
V144A |
probably benign |
Het |
Plxnb3 |
T |
C |
X: 72,814,826 (GRCm39) |
V1789A |
probably benign |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Qrfprl |
A |
T |
6: 65,430,092 (GRCm39) |
I263L |
possibly damaging |
Het |
Rab3gap1 |
A |
G |
1: 127,862,254 (GRCm39) |
Q675R |
probably damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,130,974 (GRCm39) |
S696P |
probably damaging |
Het |
Sergef |
T |
A |
7: 46,268,176 (GRCm39) |
E210V |
possibly damaging |
Het |
Sik3 |
C |
A |
9: 46,109,891 (GRCm39) |
N541K |
probably damaging |
Het |
Slc26a1 |
T |
C |
5: 108,821,448 (GRCm39) |
D147G |
possibly damaging |
Het |
Tbc1d14 |
G |
A |
5: 36,700,559 (GRCm39) |
R270* |
probably null |
Het |
Tbc1d9 |
C |
T |
8: 83,960,161 (GRCm39) |
T138I |
probably damaging |
Het |
Tdp2 |
C |
T |
13: 25,020,082 (GRCm39) |
T123I |
probably benign |
Het |
Tec |
T |
C |
5: 72,939,520 (GRCm39) |
|
probably null |
Het |
Tmf1 |
C |
A |
6: 97,153,167 (GRCm39) |
R302L |
probably damaging |
Het |
Tnip3 |
A |
T |
6: 65,574,379 (GRCm39) |
T137S |
possibly damaging |
Het |
Trim30d |
C |
T |
7: 104,121,728 (GRCm39) |
G339D |
probably damaging |
Het |
Tspan32 |
T |
A |
7: 142,560,735 (GRCm39) |
M61K |
probably damaging |
Het |
Ttc6 |
T |
C |
12: 57,744,238 (GRCm39) |
V1290A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,799,593 (GRCm39) |
V429A |
possibly damaging |
Het |
Unc13b |
A |
G |
4: 43,256,834 (GRCm39) |
Y3962C |
probably damaging |
Het |
Vmn2r95 |
T |
A |
17: 18,660,358 (GRCm39) |
Y257N |
possibly damaging |
Het |
Zfp677 |
A |
G |
17: 21,618,079 (GRCm39) |
K379E |
possibly damaging |
Het |
Zfp865 |
T |
A |
7: 5,035,013 (GRCm39) |
D999E |
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 |
R3957:Nek7
|
UTSW |
1 |
138,462,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R4638:Nek7
|
UTSW |
1 |
138,472,038 (GRCm39) |
missense |
probably benign |
0.22 |
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'- ACACACATGCTCTAACTTATGCAG -3'
(R):5'- AATAAAGCTTGCATCTGTGTGAGTG -3'
Sequencing Primer
(F):5'- GTGTTACTTAGAACCAGTGTGTCACC -3'
(R):5'- CATCTGTGTGAGTGTGTGGATAC -3'
|
Posted On |
2015-04-29 |