Incidental Mutation 'R6279:Nek5'
| ID |
507832 |
| 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 |
044449-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R6279 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
22563632-22615069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22597737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 281
(M281L)
|
| 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: M281L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126705
Gene: ENSMUSG00000037738
AA Change: M281L
| 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: M281L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000210824
AA Change: H226L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213644
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
97% (58/60) |
| 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 |
|---|
| Ap1s3 |
T |
C |
1: 79,602,840 (GRCm39) |
K56E |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,057,769 (GRCm39) |
R2084* |
probably null |
Het |
| Arid1b |
C |
A |
17: 5,392,274 (GRCm39) |
L1935M |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,357,577 (GRCm39) |
V122A |
probably damaging |
Het |
| Bmal2 |
A |
G |
6: 146,723,444 (GRCm39) |
Y258C |
probably damaging |
Het |
| Cacna1e |
T |
A |
1: 154,301,678 (GRCm39) |
T1685S |
probably benign |
Het |
| Cd163 |
T |
A |
6: 124,294,950 (GRCm39) |
C671* |
probably null |
Het |
| Cul3 |
A |
G |
1: 80,264,669 (GRCm39) |
V211A |
probably damaging |
Het |
| Cyp2d22 |
C |
A |
15: 82,258,169 (GRCm39) |
K150N |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,042,798 (GRCm39) |
I3208N |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,365,046 (GRCm39) |
F3609S |
probably damaging |
Het |
| Endod1 |
T |
C |
9: 14,268,166 (GRCm39) |
T440A |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,285,246 (GRCm39) |
T776A |
possibly damaging |
Het |
| Faap24 |
A |
C |
7: 35,095,709 (GRCm39) |
V12G |
possibly damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,891,350 (GRCm39) |
|
probably null |
Het |
| Ggta1 |
A |
G |
2: 35,298,006 (GRCm39) |
Y148H |
probably damaging |
Het |
| Hspe1 |
T |
A |
1: 55,129,860 (GRCm39) |
|
probably null |
Het |
| Il12a |
A |
T |
3: 68,605,312 (GRCm39) |
I193F |
probably damaging |
Het |
| Il2rb |
T |
C |
15: 78,365,738 (GRCm39) |
N520D |
possibly damaging |
Het |
| Kat6a |
A |
G |
8: 23,429,628 (GRCm39) |
Q1661R |
unknown |
Het |
| Klhl18 |
T |
A |
9: 110,265,130 (GRCm39) |
N362I |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,256,171 (GRCm39) |
D1171G |
probably benign |
Het |
| Mef2b |
C |
T |
8: 70,619,769 (GRCm39) |
T285I |
possibly damaging |
Het |
| Mmrn2 |
T |
C |
14: 34,119,614 (GRCm39) |
S198P |
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,287,677 (GRCm39) |
W106R |
probably damaging |
Het |
| Or10w3 |
A |
G |
19: 13,704,029 (GRCm39) |
I135V |
probably benign |
Het |
| Or2y15 |
T |
A |
11: 49,351,039 (GRCm39) |
C178S |
probably damaging |
Het |
| Or4c105 |
A |
T |
2: 88,647,719 (GRCm39) |
D68V |
probably damaging |
Het |
| Or52e19 |
A |
T |
7: 102,959,636 (GRCm39) |
H236L |
probably benign |
Het |
| Or52e7 |
G |
A |
7: 104,684,878 (GRCm39) |
V158M |
probably benign |
Het |
| Pcdhgb5 |
T |
A |
18: 37,865,752 (GRCm39) |
F516I |
probably damaging |
Het |
| Pde10a |
T |
C |
17: 9,197,789 (GRCm39) |
I1026T |
probably damaging |
Het |
| Pde4dip |
A |
C |
3: 97,606,496 (GRCm39) |
L2126R |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,646,713 (GRCm39) |
N167K |
possibly damaging |
Het |
| Pkmyt1 |
C |
T |
17: 23,951,476 (GRCm39) |
P10L |
probably benign |
Het |
| Pphln1-ps1 |
T |
C |
16: 13,495,134 (GRCm39) |
S78P |
probably damaging |
Het |
| Prr5l |
A |
T |
2: 101,547,765 (GRCm39) |
Y253* |
probably null |
Het |
| Rdh9 |
A |
G |
10: 127,612,627 (GRCm39) |
T92A |
probably benign |
Het |
| Reln |
A |
G |
5: 22,101,839 (GRCm39) |
Y3364H |
probably damaging |
Het |
| Rufy4 |
T |
A |
1: 74,172,383 (GRCm39) |
S369T |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,786,853 (GRCm39) |
M1587K |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,695,885 (GRCm39) |
H2994L |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,870,226 (GRCm39) |
H950R |
possibly damaging |
Het |
| Sez6 |
T |
C |
11: 77,867,367 (GRCm39) |
V788A |
possibly damaging |
Het |
| Sfrp4 |
G |
A |
13: 19,808,023 (GRCm39) |
A141T |
probably damaging |
Het |
| Sh3d19 |
A |
T |
3: 86,011,409 (GRCm39) |
I332F |
possibly damaging |
Het |
| Skor1 |
A |
T |
9: 63,052,596 (GRCm39) |
W458R |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Slc19a2 |
C |
T |
1: 164,084,344 (GRCm39) |
T78M |
probably damaging |
Het |
| Slc8a3 |
T |
A |
12: 81,361,752 (GRCm39) |
I356F |
probably damaging |
Het |
| Slk |
A |
G |
19: 47,630,443 (GRCm39) |
T1205A |
probably damaging |
Het |
| Tcte1 |
T |
C |
17: 45,844,215 (GRCm39) |
S64P |
possibly damaging |
Het |
| Tnpo1 |
G |
A |
13: 99,027,216 (GRCm39) |
P25L |
possibly damaging |
Het |
| Top3a |
T |
C |
11: 60,640,234 (GRCm39) |
D488G |
probably benign |
Het |
| Tshz1 |
A |
T |
18: 84,033,436 (GRCm39) |
V324D |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,790,905 (GRCm39) |
S884P |
possibly damaging |
Het |
| Usp17lb |
A |
G |
7: 104,489,898 (GRCm39) |
L342P |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,381,623 (GRCm39) |
N3S |
probably damaging |
Het |
| Zfp672 |
A |
T |
11: 58,208,094 (GRCm39) |
C76S |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- GCCAGGCTCTCTTCATGATTG -3'
(R):5'- ACGTCCCTTTTGAAAAGACCC -3'
Sequencing Primer
(F):5'- AAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- AGACCCTTTTTAGAAACTCTCATTGC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation