Incidental Mutation 'IGL02718:Nek5'
| ID |
304863 |
| 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 # |
IGL02718
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
22563632-22615069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 22587479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 314
(R314S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148211
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169834]
[ENSMUST00000209656]
|
| AlphaFold |
Q7TSC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169834
AA Change: R314S
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000126705
Gene: ENSMUSG00000037738
AA Change: R314S
| 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: ENSMUST00000209656
AA Change: R314S
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210824
|
| 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 |
|---|
| 2200002J24Rik |
A |
G |
7: 30,399,329 (GRCm39) |
D41G |
probably damaging |
Het |
| 2210408I21Rik |
T |
A |
13: 77,322,991 (GRCm39) |
Y7N |
probably damaging |
Het |
| Atf1 |
C |
A |
15: 100,152,100 (GRCm39) |
Q151K |
probably damaging |
Het |
| Brdt |
T |
C |
5: 107,497,934 (GRCm39) |
|
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,237,049 (GRCm39) |
|
probably null |
Het |
| Ctnnd2 |
A |
G |
15: 31,027,762 (GRCm39) |
S1229G |
probably damaging |
Het |
| Dcaf15 |
T |
A |
8: 84,825,005 (GRCm39) |
I476L |
possibly damaging |
Het |
| Dlec1 |
A |
G |
9: 118,966,354 (GRCm39) |
I1108V |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,777,466 (GRCm39) |
H3694L |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,501,535 (GRCm39) |
D1838E |
probably benign |
Het |
| Dusp12 |
A |
T |
1: 170,708,226 (GRCm39) |
Y164N |
probably damaging |
Het |
| Ephx1 |
A |
G |
1: 180,827,351 (GRCm39) |
F101L |
probably damaging |
Het |
| Fbn1 |
C |
A |
2: 125,211,806 (GRCm39) |
C864F |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,453,858 (GRCm39) |
E96G |
possibly damaging |
Het |
| Glt1d1 |
C |
A |
5: 127,727,763 (GRCm39) |
F78L |
probably damaging |
Het |
| Gm9602 |
A |
T |
14: 15,932,620 (GRCm39) |
R21* |
probably null |
Het |
| Grip1 |
T |
A |
10: 119,911,420 (GRCm39) |
*713K |
probably null |
Het |
| Hecw1 |
T |
C |
13: 14,481,520 (GRCm39) |
|
probably null |
Het |
| Il31ra |
G |
A |
13: 112,666,903 (GRCm39) |
R392* |
probably null |
Het |
| L3hypdh |
T |
G |
12: 72,131,630 (GRCm39) |
S101R |
probably damaging |
Het |
| Lpar5 |
T |
A |
6: 125,059,207 (GRCm39) |
D309E |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,295,043 (GRCm39) |
Y406C |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,303,439 (GRCm39) |
I166M |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,539,483 (GRCm39) |
Y2759* |
probably null |
Het |
| Ncf1 |
A |
T |
5: 134,256,302 (GRCm39) |
|
probably null |
Het |
| Nifk |
A |
C |
1: 118,255,362 (GRCm39) |
N38T |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,968,684 (GRCm39) |
V2772M |
probably damaging |
Het |
| Or10g9 |
A |
T |
9: 39,912,182 (GRCm39) |
Y114N |
probably damaging |
Het |
| Or10z1 |
G |
T |
1: 174,078,273 (GRCm39) |
Y73* |
probably null |
Het |
| Or2b28 |
T |
C |
13: 21,531,554 (GRCm39) |
L152P |
probably damaging |
Het |
| Or2d3 |
A |
T |
7: 106,490,536 (GRCm39) |
M260K |
probably damaging |
Het |
| Or52r1c |
C |
A |
7: 102,734,790 (GRCm39) |
L22I |
probably benign |
Het |
| Or5k17 |
T |
C |
16: 58,746,459 (GRCm39) |
I158M |
possibly damaging |
Het |
| Pbxip1 |
A |
G |
3: 89,355,311 (GRCm39) |
E610G |
probably damaging |
Het |
| Pfas |
G |
T |
11: 68,890,971 (GRCm39) |
|
probably benign |
Het |
| Plk4 |
T |
C |
3: 40,769,456 (GRCm39) |
S102P |
probably damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,001,348 (GRCm39) |
T1146I |
possibly damaging |
Het |
| Pum2 |
T |
A |
12: 8,783,344 (GRCm39) |
S598T |
probably benign |
Het |
| Ric1 |
T |
A |
19: 29,510,640 (GRCm39) |
W74R |
probably damaging |
Het |
| Riok3 |
C |
A |
18: 12,286,053 (GRCm39) |
S427* |
probably null |
Het |
| Ros1 |
A |
T |
10: 51,994,328 (GRCm39) |
D1317E |
probably damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,406,842 (GRCm39) |
D47G |
possibly damaging |
Het |
| Slc12a1 |
C |
T |
2: 125,002,999 (GRCm39) |
R177* |
probably null |
Het |
| Snai3 |
C |
A |
8: 123,182,861 (GRCm39) |
|
probably null |
Het |
| Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
| Soat1 |
A |
T |
1: 156,268,999 (GRCm39) |
S151T |
probably benign |
Het |
| Spmip4 |
G |
T |
6: 50,561,367 (GRCm39) |
T184K |
probably damaging |
Het |
| Stbd1 |
A |
G |
5: 92,751,077 (GRCm39) |
E37G |
possibly damaging |
Het |
| Syt10 |
A |
G |
15: 89,698,282 (GRCm39) |
I354T |
probably damaging |
Het |
| Trip11 |
A |
C |
12: 101,852,284 (GRCm39) |
S593R |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,745,364 (GRCm39) |
E908G |
probably damaging |
Het |
| Yy1 |
T |
C |
12: 108,781,405 (GRCm39) |
F357L |
probably damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation