Incidental Mutation 'IGL01287:Nek5'
ID |
72751 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nek5
|
Ensembl Gene |
ENSMUSG00000037738 |
Gene Name |
NIMA (never in mitosis gene a)-related expressed kinase 5 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
IGL01287
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
22563632-22615069 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 22601199 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 174
(N174S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148211
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169834]
[ENSMUST00000209656]
|
AlphaFold |
Q7TSC3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169834
AA Change: N174S
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000126705 Gene: ENSMUSG00000037738 AA Change: N174S
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
255 |
3.77e-92 |
SMART |
Blast:S_TKc
|
396 |
497 |
3e-37 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209656
AA Change: N174S
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000210824
AA Change: N124S
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213644
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
T |
C |
9: 57,165,040 (GRCm39) |
K445E |
probably damaging |
Het |
Abca15 |
A |
T |
7: 119,932,081 (GRCm39) |
|
probably benign |
Het |
Acsbg3 |
C |
T |
17: 57,189,203 (GRCm39) |
Q204* |
probably null |
Het |
Acvr1c |
A |
T |
2: 58,170,254 (GRCm39) |
C371* |
probably null |
Het |
Brs3 |
T |
C |
X: 56,092,727 (GRCm39) |
|
probably benign |
Het |
Car14 |
C |
T |
3: 95,806,871 (GRCm39) |
V198M |
possibly damaging |
Het |
Cenpc1 |
G |
A |
5: 86,170,313 (GRCm39) |
R704* |
probably null |
Het |
Crybg1 |
C |
T |
10: 43,868,490 (GRCm39) |
R1396H |
possibly damaging |
Het |
Cubn |
A |
G |
2: 13,315,377 (GRCm39) |
S3019P |
probably damaging |
Het |
Cyp2j9 |
T |
C |
4: 96,471,665 (GRCm39) |
E222G |
probably benign |
Het |
Defb50 |
C |
A |
8: 22,321,187 (GRCm39) |
T59K |
probably benign |
Het |
Dlg3 |
T |
C |
X: 99,850,848 (GRCm39) |
I587T |
possibly damaging |
Het |
Doc2a |
C |
T |
7: 126,450,173 (GRCm39) |
R204C |
probably damaging |
Het |
Galc |
T |
C |
12: 98,212,503 (GRCm39) |
|
probably benign |
Het |
Gm8257 |
A |
T |
14: 44,892,800 (GRCm39) |
F67I |
probably damaging |
Het |
Hnrnpul1 |
A |
T |
7: 25,426,323 (GRCm39) |
N509K |
probably damaging |
Het |
Iars2 |
T |
A |
1: 185,028,625 (GRCm39) |
I678F |
possibly damaging |
Het |
Ifit1 |
A |
G |
19: 34,625,533 (GRCm39) |
E223G |
possibly damaging |
Het |
Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
Lrp4 |
C |
A |
2: 91,304,293 (GRCm39) |
D157E |
probably damaging |
Het |
Ltk |
T |
A |
2: 119,586,186 (GRCm39) |
T21S |
probably benign |
Het |
Lvrn |
A |
T |
18: 46,997,733 (GRCm39) |
|
probably benign |
Het |
Maob |
G |
A |
X: 16,578,881 (GRCm39) |
A424V |
probably damaging |
Het |
Myo1g |
C |
A |
11: 6,465,856 (GRCm39) |
V410F |
possibly damaging |
Het |
Myorg |
T |
A |
4: 41,498,923 (GRCm39) |
I236F |
possibly damaging |
Het |
Naxe |
T |
C |
3: 87,963,981 (GRCm39) |
H250R |
probably damaging |
Het |
Or2y3 |
G |
T |
17: 38,392,998 (GRCm39) |
N290K |
probably damaging |
Het |
Or51l14 |
C |
T |
7: 103,101,002 (GRCm39) |
R153W |
probably damaging |
Het |
Or9m2 |
A |
G |
2: 87,821,288 (GRCm39) |
T278A |
probably benign |
Het |
Pex1 |
A |
G |
5: 3,656,027 (GRCm39) |
T285A |
probably benign |
Het |
Pfas |
A |
G |
11: 68,892,086 (GRCm39) |
S141P |
probably benign |
Het |
Pmm1 |
T |
C |
15: 81,839,945 (GRCm39) |
T127A |
probably damaging |
Het |
Proc |
C |
A |
18: 32,256,873 (GRCm39) |
|
probably benign |
Het |
Ranbp9 |
T |
C |
13: 43,633,980 (GRCm39) |
E142G |
probably damaging |
Het |
Recql4 |
C |
A |
15: 76,594,112 (GRCm39) |
|
probably benign |
Het |
Robo4 |
C |
T |
9: 37,324,336 (GRCm39) |
P955S |
possibly damaging |
Het |
Ryr3 |
T |
A |
2: 112,539,418 (GRCm39) |
N3274I |
probably damaging |
Het |
Serpinb10 |
T |
C |
1: 107,468,612 (GRCm39) |
|
probably benign |
Het |
Slc9c1 |
A |
T |
16: 45,404,811 (GRCm39) |
K848* |
probably null |
Het |
Slfn5 |
A |
G |
11: 82,847,807 (GRCm39) |
T231A |
probably damaging |
Het |
Syncrip |
T |
C |
9: 88,338,660 (GRCm39) |
|
probably benign |
Het |
Syt16 |
A |
T |
12: 74,313,513 (GRCm39) |
T480S |
probably damaging |
Het |
Taf1c |
G |
A |
8: 120,327,931 (GRCm39) |
T293M |
probably benign |
Het |
Tbc1d5 |
T |
C |
17: 51,120,826 (GRCm39) |
D430G |
possibly damaging |
Het |
Tbx18 |
T |
C |
9: 87,606,384 (GRCm39) |
T254A |
probably damaging |
Het |
Tpm1 |
C |
T |
9: 66,943,337 (GRCm39) |
R105H |
probably damaging |
Het |
Usp17la |
T |
C |
7: 104,510,522 (GRCm39) |
S376P |
probably benign |
Het |
Vmn1r19 |
A |
G |
6: 57,382,179 (GRCm39) |
D244G |
probably damaging |
Het |
Vmn1r58 |
A |
T |
7: 5,414,054 (GRCm39) |
F59I |
probably benign |
Het |
Vmn2r45 |
A |
T |
7: 8,488,622 (GRCm39) |
M136K |
probably benign |
Het |
Vmn2r70 |
T |
A |
7: 85,218,227 (GRCm39) |
R24* |
probably null |
Het |
Vmn2r75 |
T |
A |
7: 85,797,801 (GRCm39) |
I671F |
probably damaging |
Het |
|
Other mutations in Nek5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R0257:Nek5
|
UTSW |
8 |
22,613,688 (GRCm39) |
intron |
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 |
|
Posted On |
2013-10-07 |