Incidental Mutation 'R0257:Nek5'
| ID |
98857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nek5
|
| Ensembl Gene |
ENSMUSG00000037738 |
| Gene Name |
NIMA (never in mitosis gene a)-related expressed kinase 5 |
| Synonyms |
|
| MMRRC Submission |
038488-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R0257 (G1)
|
| Quality Score |
186 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
22563632-22615069 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 22613688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033865]
[ENSMUST00000110730]
[ENSMUST00000169834]
[ENSMUST00000178324]
[ENSMUST00000209656]
|
| AlphaFold |
Q7TSC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033865
|
| SMART Domains |
Protein: ENSMUSP00000033865
Gene: ENSMUSG00000031478
| 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 |
probably benign
Transcript: ENSMUST00000110730
|
| SMART Domains |
Protein: ENSMUSP00000106358
Gene: ENSMUSG00000031478
| 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: 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 benign
Transcript: ENSMUST00000178324
|
| SMART Domains |
Protein: ENSMUSP00000136876
Gene: ENSMUSG00000031478
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.5%
- 10x: 95.7%
- 20x: 92.2%
|
| Validation Efficiency |
99% (67/68) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit progressive hearing impairment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
T |
A |
11: 84,401,107 (GRCm39) |
E171D |
probably benign |
Het |
| Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
| Adgre5 |
T |
A |
8: 84,458,624 (GRCm39) |
H134L |
possibly damaging |
Het |
| Ahsg |
A |
T |
16: 22,717,790 (GRCm39) |
M256L |
probably benign |
Het |
| Alk |
A |
T |
17: 72,910,490 (GRCm39) |
L72Q |
probably damaging |
Het |
| Ano2 |
C |
A |
6: 125,857,676 (GRCm39) |
A505E |
probably benign |
Het |
| Bcas3 |
A |
G |
11: 85,712,865 (GRCm39) |
K908E |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,827,746 (GRCm39) |
V157A |
probably benign |
Het |
| Car2 |
C |
G |
3: 14,965,037 (GRCm39) |
H224D |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,071,773 (GRCm39) |
D287G |
probably benign |
Het |
| Disp3 |
G |
T |
4: 148,335,211 (GRCm39) |
N944K |
possibly damaging |
Het |
| Dlg1 |
A |
G |
16: 31,661,671 (GRCm39) |
|
probably benign |
Het |
| Dmbt1 |
A |
G |
7: 130,708,123 (GRCm39) |
E1281G |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,088,870 (GRCm39) |
|
probably benign |
Het |
| Dtx3 |
T |
C |
10: 127,028,761 (GRCm39) |
D159G |
probably benign |
Het |
| Ets2 |
T |
A |
16: 95,513,245 (GRCm39) |
C140* |
probably null |
Het |
| Fbf1 |
T |
C |
11: 116,045,917 (GRCm39) |
I226V |
probably benign |
Het |
| Fgd6 |
T |
A |
10: 93,879,777 (GRCm39) |
H210Q |
probably benign |
Het |
| Fktn |
A |
G |
4: 53,734,898 (GRCm39) |
T179A |
probably benign |
Het |
| Galnt10 |
T |
C |
11: 57,671,904 (GRCm39) |
M398T |
probably damaging |
Het |
| Grk5 |
G |
T |
19: 61,065,068 (GRCm39) |
|
probably benign |
Het |
| Gse1 |
A |
G |
8: 121,299,073 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,259,176 (GRCm39) |
|
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,861,052 (GRCm39) |
|
probably null |
Het |
| Lama4 |
T |
C |
10: 38,970,880 (GRCm39) |
|
probably benign |
Het |
| Luzp2 |
A |
G |
7: 54,899,194 (GRCm39) |
T271A |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,693,534 (GRCm39) |
V1053D |
probably damaging |
Het |
| Mrm1 |
A |
C |
11: 84,705,649 (GRCm39) |
|
probably benign |
Het |
| Msh5 |
G |
C |
17: 35,251,840 (GRCm39) |
R407G |
probably damaging |
Het |
| Myo1c |
A |
T |
11: 75,556,342 (GRCm39) |
|
probably null |
Het |
| Nrxn2 |
A |
G |
19: 6,540,728 (GRCm39) |
I894V |
possibly damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Pde4a |
C |
T |
9: 21,103,717 (GRCm39) |
P175L |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,150,930 (GRCm39) |
A628E |
possibly damaging |
Het |
| Piwil2 |
C |
T |
14: 70,660,080 (GRCm39) |
S139N |
probably benign |
Het |
| Prob1 |
T |
C |
18: 35,786,092 (GRCm39) |
K721E |
possibly damaging |
Het |
| Rps6ka2 |
C |
A |
17: 7,495,382 (GRCm39) |
S57Y |
probably damaging |
Het |
| Rxfp1 |
C |
T |
3: 79,589,842 (GRCm39) |
V100M |
possibly damaging |
Het |
| Serpinb9e |
A |
T |
13: 33,441,664 (GRCm39) |
M199L |
probably benign |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc4a8 |
G |
A |
15: 100,682,761 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
A |
T |
1: 93,192,819 (GRCm39) |
S369C |
possibly damaging |
Het |
| St18 |
T |
A |
1: 6,890,186 (GRCm39) |
F539L |
probably benign |
Het |
| Stam2 |
C |
T |
2: 52,584,794 (GRCm39) |
G500D |
possibly damaging |
Het |
| Stx16 |
G |
A |
2: 173,938,754 (GRCm39) |
V307M |
probably benign |
Het |
| Svep1 |
G |
A |
4: 58,179,610 (GRCm39) |
S211L |
possibly damaging |
Het |
| Tcf12 |
C |
T |
9: 71,765,904 (GRCm39) |
S512N |
probably benign |
Het |
| Tiam2 |
T |
C |
17: 3,501,088 (GRCm39) |
V909A |
possibly damaging |
Het |
| Tmem64 |
C |
T |
4: 15,266,343 (GRCm39) |
A131V |
probably damaging |
Het |
| Tnrc6b |
C |
A |
15: 80,778,556 (GRCm39) |
N1176K |
possibly damaging |
Het |
| Trrap |
C |
T |
5: 144,741,045 (GRCm39) |
S1264L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,640,775 (GRCm39) |
T13658S |
possibly damaging |
Het |
| Vmn2r104 |
G |
A |
17: 20,249,889 (GRCm39) |
T794I |
probably damaging |
Het |
| Vmn2r52 |
T |
A |
7: 9,904,982 (GRCm39) |
R286* |
probably null |
Het |
| Vps53 |
A |
T |
11: 76,068,211 (GRCm39) |
|
probably benign |
Het |
| Wdr18 |
A |
G |
10: 79,796,953 (GRCm39) |
|
probably benign |
Het |
| Wdr31 |
A |
G |
4: 62,378,755 (GRCm39) |
|
probably null |
Het |
| Zfp458 |
T |
A |
13: 67,407,706 (GRCm39) |
K47* |
probably null |
Het |
| Zfp983 |
A |
G |
17: 21,880,356 (GRCm39) |
T95A |
probably benign |
Het |
|
| Other mutations in Nek5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01287:Nek5
|
APN |
8 |
22,601,199 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01418:Nek5
|
APN |
8 |
22,585,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01485:Nek5
|
APN |
8 |
22,573,385 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01640:Nek5
|
APN |
8 |
22,610,856 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01894:Nek5
|
APN |
8 |
22,603,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01958:Nek5
|
APN |
8 |
22,586,842 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02332:Nek5
|
APN |
8 |
22,585,277 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02718:Nek5
|
APN |
8 |
22,587,479 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03203:Nek5
|
APN |
8 |
22,608,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03325:Nek5
|
APN |
8 |
22,569,158 (GRCm39) |
missense |
probably benign |
|
|
R0522:Nek5
|
UTSW |
8 |
22,578,813 (GRCm39) |
splice site |
probably benign |
|
|
R0525:Nek5
|
UTSW |
8 |
22,569,093 (GRCm39) |
unclassified |
probably benign |
|
|
R1476:Nek5
|
UTSW |
8 |
22,586,747 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1483:Nek5
|
UTSW |
8 |
22,586,806 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1764:Nek5
|
UTSW |
8 |
22,599,928 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1892:Nek5
|
UTSW |
8 |
22,597,745 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1989:Nek5
|
UTSW |
8 |
22,601,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2229:Nek5
|
UTSW |
8 |
22,603,648 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4114:Nek5
|
UTSW |
8 |
22,601,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4116:Nek5
|
UTSW |
8 |
22,601,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4709:Nek5
|
UTSW |
8 |
22,573,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4952:Nek5
|
UTSW |
8 |
22,569,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4952:Nek5
|
UTSW |
8 |
22,586,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5185:Nek5
|
UTSW |
8 |
22,573,397 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5816:Nek5
|
UTSW |
8 |
22,586,752 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5884:Nek5
|
UTSW |
8 |
22,578,817 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6009:Nek5
|
UTSW |
8 |
22,610,838 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6279:Nek5
|
UTSW |
8 |
22,597,737 (GRCm39) |
missense |
probably benign |
|
|
R6300:Nek5
|
UTSW |
8 |
22,597,737 (GRCm39) |
missense |
probably benign |
|
|
R6437:Nek5
|
UTSW |
8 |
22,575,476 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7034:Nek5
|
UTSW |
8 |
22,597,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7036:Nek5
|
UTSW |
8 |
22,597,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7278:Nek5
|
UTSW |
8 |
22,580,500 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7436:Nek5
|
UTSW |
8 |
22,598,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7666:Nek5
|
UTSW |
8 |
22,580,533 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7827:Nek5
|
UTSW |
8 |
22,573,403 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8057:Nek5
|
UTSW |
8 |
22,578,922 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8350:Nek5
|
UTSW |
8 |
22,603,688 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8847:Nek5
|
UTSW |
8 |
22,613,595 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8888:Nek5
|
UTSW |
8 |
22,580,495 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8933:Nek5
|
UTSW |
8 |
22,610,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8933:Nek5
|
UTSW |
8 |
22,601,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9353:Nek5
|
UTSW |
8 |
22,563,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9574:Nek5
|
UTSW |
8 |
22,564,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9745:Nek5
|
UTSW |
8 |
22,573,479 (GRCm39) |
missense |
probably benign |
0.04 |
|
X0012:Nek5
|
UTSW |
8 |
22,585,264 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
|
| Posted On |
2014-01-10 |
Incidental Mutation