Incidental Mutation 'R6437:Nek5'
ID |
518818 |
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 |
044575-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R6437 (G1)
|
Quality Score |
167.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
22563632-22615069 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 22575476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 491
(D491V)
|
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: D491V
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000126705 Gene: ENSMUSG00000037738 AA Change: D491V
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: D491V
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210824
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (52/52) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg2a |
T |
A |
3: 37,582,347 (GRCm39) |
V794E |
probably damaging |
Het |
Agrn |
C |
T |
4: 156,261,235 (GRCm39) |
V514I |
probably damaging |
Het |
Atg16l1 |
T |
C |
1: 87,718,370 (GRCm39) |
L545P |
probably damaging |
Het |
Ces3b |
T |
A |
8: 105,819,238 (GRCm39) |
D431E |
probably damaging |
Het |
Cracr2a |
A |
G |
6: 127,608,794 (GRCm39) |
D291G |
probably damaging |
Het |
Csmd2 |
T |
G |
4: 127,881,893 (GRCm39) |
C11G |
probably benign |
Het |
Cstdc3 |
A |
G |
16: 36,132,999 (GRCm39) |
E92G |
probably damaging |
Het |
Dido1 |
A |
G |
2: 180,316,806 (GRCm39) |
I127T |
probably damaging |
Het |
Dpp8 |
A |
T |
9: 64,981,860 (GRCm39) |
Y714F |
probably benign |
Het |
Efcab5 |
G |
A |
11: 77,028,728 (GRCm39) |
A201V |
probably benign |
Het |
Eif3h |
C |
T |
15: 51,662,660 (GRCm39) |
V129I |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fars2 |
G |
A |
13: 36,388,846 (GRCm39) |
V112I |
probably benign |
Het |
Fbn2 |
T |
G |
18: 58,246,435 (GRCm39) |
D489A |
probably damaging |
Het |
Frmd4b |
G |
T |
6: 97,273,228 (GRCm39) |
S675R |
probably damaging |
Het |
Fsip2 |
C |
T |
2: 82,813,836 (GRCm39) |
S3385F |
possibly damaging |
Het |
Gtpbp10 |
A |
G |
5: 5,607,406 (GRCm39) |
Y12H |
probably damaging |
Het |
Kcng3 |
A |
G |
17: 83,938,558 (GRCm39) |
S164P |
probably damaging |
Het |
Kifap3 |
T |
A |
1: 163,685,095 (GRCm39) |
L483Q |
probably damaging |
Het |
Klk10 |
A |
G |
7: 43,432,241 (GRCm39) |
H58R |
probably benign |
Het |
Kntc1 |
T |
G |
5: 123,907,754 (GRCm39) |
W452G |
probably damaging |
Het |
Krt87 |
C |
T |
15: 101,336,273 (GRCm39) |
D127N |
possibly damaging |
Het |
Ldaf1 |
A |
T |
7: 119,715,584 (GRCm39) |
|
probably null |
Het |
Lipm |
A |
G |
19: 34,098,657 (GRCm39) |
Y377C |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,240,669 (GRCm39) |
R1453H |
probably damaging |
Het |
Nat1 |
T |
C |
8: 67,944,388 (GRCm39) |
F255L |
possibly damaging |
Het |
Neb |
C |
T |
2: 52,147,569 (GRCm39) |
|
probably null |
Het |
Nynrin |
T |
C |
14: 56,109,227 (GRCm39) |
S1445P |
probably benign |
Het |
Oog2 |
T |
A |
4: 143,921,678 (GRCm39) |
|
probably null |
Het |
Or2j6 |
C |
T |
7: 139,980,434 (GRCm39) |
C175Y |
probably damaging |
Het |
Pafah1b1 |
T |
C |
11: 74,568,557 (GRCm39) |
T391A |
probably benign |
Het |
Pcdhb7 |
T |
C |
18: 37,475,743 (GRCm39) |
L293P |
probably damaging |
Het |
Plce1 |
A |
T |
19: 38,513,576 (GRCm39) |
T292S |
probably benign |
Het |
Pold1 |
G |
A |
7: 44,188,202 (GRCm39) |
R559C |
probably damaging |
Het |
Rfx7 |
A |
G |
9: 72,525,768 (GRCm39) |
Q986R |
possibly damaging |
Het |
Rrp9 |
G |
T |
9: 106,360,150 (GRCm39) |
R186L |
probably benign |
Het |
Samm50 |
T |
A |
15: 84,088,298 (GRCm39) |
|
probably null |
Het |
Scoc |
T |
C |
8: 84,164,616 (GRCm39) |
D7G |
probably benign |
Het |
Smad9 |
C |
T |
3: 54,693,505 (GRCm39) |
P145S |
probably benign |
Het |
Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
Snrk |
A |
G |
9: 121,995,879 (GRCm39) |
R553G |
probably damaging |
Het |
Srcap |
T |
A |
7: 127,127,722 (GRCm39) |
|
probably null |
Het |
Syne2 |
T |
A |
12: 76,037,188 (GRCm39) |
V3789E |
possibly damaging |
Het |
Thsd7b |
T |
C |
1: 129,744,419 (GRCm39) |
I769T |
probably damaging |
Het |
Ttc7 |
A |
G |
17: 87,637,534 (GRCm39) |
K430E |
probably damaging |
Het |
Ubr4 |
T |
A |
4: 139,124,525 (GRCm39) |
|
probably null |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Vmn2r37 |
G |
T |
7: 9,220,850 (GRCm39) |
Q338K |
probably damaging |
Het |
Yod1 |
T |
C |
1: 130,646,885 (GRCm39) |
V254A |
probably damaging |
Het |
Zfpm2 |
T |
C |
15: 40,962,793 (GRCm39) |
S152P |
probably benign |
Het |
Zmym2 |
T |
A |
14: 57,140,461 (GRCm39) |
L100H |
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 |
R6279:Nek5
|
UTSW |
8 |
22,597,737 (GRCm39) |
missense |
probably benign |
|
R6300:Nek5
|
UTSW |
8 |
22,597,737 (GRCm39) |
missense |
probably benign |
|
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'- ATTCTGTCCTGTCGAATGACTG -3'
(R):5'- CAGTCCTGTTGTTAGACTCTGG -3'
Sequencing Primer
(F):5'- GCTAGGATAATGAGCACTCAAGTCTC -3'
(R):5'- ACTCTGGCTGCAGTGGAACTAATC -3'
|
Posted On |
2018-05-24 |