Incidental Mutation 'R4114:Nek5'
| ID |
368259 |
| 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 |
040990-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R4114 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
22563632-22615069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 22601178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 181
(T181M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148211
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169834]
[ENSMUST00000209656]
|
| AlphaFold |
Q7TSC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169834
AA Change: T181M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126705
Gene: ENSMUSG00000037738
AA Change: T181M
| 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 damaging
Transcript: ENSMUST00000209656
AA Change: T181M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000210824
AA Change: T131M
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213644
|
| Meta Mutation Damage Score |
0.2982 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (37/37) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
T |
G |
11: 117,693,793 (GRCm39) |
S87A |
probably damaging |
Het |
| Abca16 |
T |
C |
7: 120,126,290 (GRCm39) |
F1149L |
probably benign |
Het |
| Abcf1 |
A |
T |
17: 36,270,146 (GRCm39) |
D637E |
probably benign |
Het |
| Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,256,819 (GRCm39) |
|
probably null |
Het |
| Cep44 |
T |
C |
8: 56,998,457 (GRCm39) |
T74A |
probably benign |
Het |
| Colq |
T |
A |
14: 31,279,824 (GRCm39) |
M1L |
probably benign |
Het |
| Cym |
A |
T |
3: 107,127,065 (GRCm39) |
L30Q |
probably damaging |
Het |
| Dpp6 |
T |
A |
5: 27,674,485 (GRCm39) |
|
probably null |
Het |
| Gbe1 |
G |
T |
16: 70,280,715 (GRCm39) |
G372V |
possibly damaging |
Het |
| Hdc |
T |
A |
2: 126,443,738 (GRCm39) |
M314L |
probably benign |
Het |
| Ino80b |
A |
G |
6: 83,101,121 (GRCm39) |
S149P |
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
| Mpped1 |
A |
G |
15: 83,680,910 (GRCm39) |
|
probably benign |
Het |
| Nlrp4a |
T |
G |
7: 26,149,365 (GRCm39) |
F324C |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,118,593 (GRCm39) |
|
probably null |
Het |
| Or6c6c |
T |
C |
10: 129,541,668 (GRCm39) |
L307S |
probably benign |
Het |
| Or8u9 |
A |
T |
2: 86,001,759 (GRCm39) |
V134D |
possibly damaging |
Het |
| Pcdhb3 |
A |
G |
18: 37,435,093 (GRCm39) |
N353S |
probably benign |
Het |
| Pde8a |
T |
A |
7: 80,932,555 (GRCm39) |
|
probably null |
Het |
| Pramel29 |
A |
T |
4: 143,936,173 (GRCm39) |
L29H |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,707,568 (GRCm39) |
R2823H |
probably damaging |
Het |
| Scart2 |
T |
C |
7: 139,877,823 (GRCm39) |
V935A |
probably damaging |
Het |
| Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
| Slc7a1 |
T |
C |
5: 148,278,867 (GRCm39) |
T302A |
probably damaging |
Het |
| Sult2a2 |
A |
T |
7: 13,468,708 (GRCm39) |
Q58L |
probably benign |
Het |
| Tek |
T |
C |
4: 94,737,920 (GRCm39) |
S657P |
probably damaging |
Het |
| Trim5 |
A |
G |
7: 103,914,947 (GRCm39) |
L374P |
probably damaging |
Het |
| Tspan18 |
C |
A |
2: 93,142,291 (GRCm39) |
|
probably null |
Het |
| Vmn2r37 |
T |
A |
7: 9,213,092 (GRCm39) |
|
probably null |
Het |
| Zbbx |
T |
C |
3: 75,046,905 (GRCm39) |
T121A |
probably benign |
Het |
| Zfp35 |
A |
C |
18: 24,135,766 (GRCm39) |
I37L |
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 |
|
|
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 |
|
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 |
PCR Primer
(F):5'- TTTAAGTCCAAAGGCTTCAGGG -3'
(R):5'- GTCTGTGGTTCATATGCAATGTCTTAC -3'
Sequencing Primer
(F):5'- GGCTTCAGGGAATATTATTCGTCAC -3'
(R):5'- GAACTCACTTTGTAGACCAGGCTG -3'
|
| Posted On |
2016-01-13 |
Incidental Mutation