Incidental Mutation 'R6744:Nek9'
| ID |
532801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nek9
|
| Ensembl Gene |
ENSMUSG00000034290 |
| Gene Name |
NIMA (never in mitosis gene a)-related expressed kinase 9 |
| Synonyms |
C130021H08Rik |
| MMRRC Submission |
044861-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6744 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
85346288-85386136 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85376703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 226
(V226A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040992]
|
| AlphaFold |
Q8K1R7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040992
AA Change: V226A
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000049056
Gene: ENSMUSG00000034290
AA Change: V226A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
49 |
N/A |
INTRINSIC |
|
S_TKc
|
52 |
308 |
1.07e-73 |
SMART |
|
Pfam:RCC1
|
389 |
441 |
1.2e-9 |
PFAM |
|
Pfam:RCC1_2
|
428 |
457 |
1.5e-8 |
PFAM |
|
Pfam:RCC1
|
444 |
495 |
3.6e-13 |
PFAM |
|
Pfam:RCC1_2
|
482 |
511 |
3.6e-11 |
PFAM |
|
Pfam:RCC1
|
499 |
547 |
7.6e-14 |
PFAM |
|
Pfam:RCC1
|
615 |
665 |
4.2e-8 |
PFAM |
|
Pfam:RCC1_2
|
652 |
681 |
4.4e-7 |
PFAM |
|
low complexity region
|
752 |
767 |
N/A |
INTRINSIC |
|
low complexity region
|
889 |
900 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
927 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0693 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein is activated in mitosis and, in turn, activates other family members during mitosis. This protein also mediates cellular processes that are essential for interphase progression. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
A |
10: 20,841,466 (GRCm39) |
L251H |
probably damaging |
Het |
| Alk |
A |
T |
17: 72,910,077 (GRCm39) |
S210T |
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,906,281 (GRCm39) |
F246S |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 80,024,858 (GRCm39) |
N1749K |
probably benign |
Het |
| C87436 |
T |
A |
6: 86,423,046 (GRCm39) |
S207T |
probably damaging |
Het |
| C8b |
C |
T |
4: 104,631,543 (GRCm39) |
R53W |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,409,244 (GRCm39) |
V619A |
probably benign |
Het |
| Cdc73 |
G |
A |
1: 143,577,887 (GRCm39) |
|
probably benign |
Het |
| Cdh4 |
C |
A |
2: 179,489,180 (GRCm39) |
H297Q |
possibly damaging |
Het |
| Col3a1 |
G |
T |
1: 45,377,782 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,816,207 (GRCm39) |
N1328S |
probably damaging |
Het |
| Ctnnb1 |
T |
A |
9: 120,782,025 (GRCm39) |
V346E |
probably damaging |
Het |
| Ctns |
C |
T |
11: 73,076,111 (GRCm39) |
G308E |
probably damaging |
Het |
| Cxxc4 |
AGGCGGCGGCGGCGGCGGCGGCGGC |
AGGCGGCGGCGGCGGCGGCGGCGGCGGC |
3: 133,945,891 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,014,532 (GRCm39) |
I3685T |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,742,770 (GRCm39) |
H775R |
probably damaging |
Het |
| Eef1ece2 |
A |
T |
16: 20,449,116 (GRCm39) |
K165N |
probably damaging |
Het |
| Fbxl3 |
A |
T |
14: 103,320,730 (GRCm39) |
V239D |
probably damaging |
Het |
| Gh |
T |
A |
11: 106,192,230 (GRCm39) |
K55* |
probably null |
Het |
| Havcr2 |
T |
G |
11: 46,345,887 (GRCm39) |
|
probably null |
Het |
| Kcnq2 |
T |
A |
2: 180,727,099 (GRCm39) |
H576L |
possibly damaging |
Het |
| Kifap3 |
A |
G |
1: 163,676,239 (GRCm39) |
N398S |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Mblac1 |
A |
G |
5: 138,192,682 (GRCm39) |
E8G |
possibly damaging |
Het |
| Mtor |
C |
T |
4: 148,543,112 (GRCm39) |
T290I |
probably benign |
Het |
| Nceh1 |
T |
C |
3: 27,295,938 (GRCm39) |
Y400H |
probably damaging |
Het |
| Or10a3 |
T |
C |
7: 108,480,037 (GRCm39) |
T259A |
probably damaging |
Het |
| Or10al3 |
T |
A |
17: 38,012,336 (GRCm39) |
Y258* |
probably null |
Het |
| Or2d4 |
A |
G |
7: 106,543,741 (GRCm39) |
S156P |
probably damaging |
Het |
| Otud4 |
C |
A |
8: 80,400,407 (GRCm39) |
Y1039* |
probably null |
Het |
| Pax4 |
T |
C |
6: 28,442,396 (GRCm39) |
H331R |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,165,960 (GRCm39) |
Y2090* |
probably null |
Het |
| Ppp1r12a |
T |
A |
10: 108,066,395 (GRCm39) |
H195Q |
probably damaging |
Het |
| Ppp6r2 |
A |
G |
15: 89,140,864 (GRCm39) |
|
probably null |
Het |
| Prodh |
A |
G |
16: 17,897,064 (GRCm39) |
V23A |
probably benign |
Het |
| Psg20 |
G |
A |
7: 18,408,505 (GRCm39) |
T405I |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,093,562 (GRCm39) |
D360G |
probably benign |
Het |
| Qrfprl |
T |
A |
6: 65,418,324 (GRCm39) |
M164K |
possibly damaging |
Het |
| Rad18 |
A |
T |
6: 112,652,745 (GRCm39) |
M284K |
probably damaging |
Het |
| Rgs17 |
T |
C |
10: 5,792,567 (GRCm39) |
K60E |
possibly damaging |
Het |
| Sec31a |
G |
T |
5: 100,540,358 (GRCm39) |
Q39K |
possibly damaging |
Het |
| Slc22a22 |
G |
T |
15: 57,117,668 (GRCm39) |
T291K |
possibly damaging |
Het |
| Sult2a6 |
C |
T |
7: 13,956,470 (GRCm39) |
E264K |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,121,221 (GRCm39) |
R5896C |
probably damaging |
Het |
| Tctn1 |
A |
T |
5: 122,402,209 (GRCm39) |
V75D |
probably damaging |
Het |
| Tmem214 |
A |
G |
5: 31,031,372 (GRCm39) |
K409E |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,853,301 (GRCm39) |
Y553C |
probably damaging |
Het |
| Vmn1r49 |
C |
T |
6: 90,049,184 (GRCm39) |
V273I |
probably benign |
Het |
|
| Other mutations in Nek9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01431:Nek9
|
APN |
12 |
85,361,361 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01595:Nek9
|
APN |
12 |
85,361,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01603:Nek9
|
APN |
12 |
85,352,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01893:Nek9
|
APN |
12 |
85,383,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02017:Nek9
|
APN |
12 |
85,376,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02197:Nek9
|
APN |
12 |
85,354,704 (GRCm39) |
missense |
probably null |
|
|
IGL02207:Nek9
|
APN |
12 |
85,350,257 (GRCm39) |
nonsense |
probably null |
|
|
IGL02749:Nek9
|
APN |
12 |
85,352,281 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02756:Nek9
|
APN |
12 |
85,358,110 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03343:Nek9
|
APN |
12 |
85,350,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Rose_colored
|
UTSW |
12 |
85,350,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0048:Nek9
|
UTSW |
12 |
85,348,673 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0331:Nek9
|
UTSW |
12 |
85,374,149 (GRCm39) |
splice site |
probably benign |
|
|
R0499:Nek9
|
UTSW |
12 |
85,348,657 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1484:Nek9
|
UTSW |
12 |
85,348,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1760:Nek9
|
UTSW |
12 |
85,357,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1760:Nek9
|
UTSW |
12 |
85,352,364 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1883:Nek9
|
UTSW |
12 |
85,379,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1884:Nek9
|
UTSW |
12 |
85,379,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1999:Nek9
|
UTSW |
12 |
85,376,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2046:Nek9
|
UTSW |
12 |
85,367,481 (GRCm39) |
splice site |
probably benign |
|
|
R2096:Nek9
|
UTSW |
12 |
85,361,322 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2150:Nek9
|
UTSW |
12 |
85,376,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2368:Nek9
|
UTSW |
12 |
85,376,661 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2570:Nek9
|
UTSW |
12 |
85,379,320 (GRCm39) |
nonsense |
probably null |
|
|
R4381:Nek9
|
UTSW |
12 |
85,376,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4570:Nek9
|
UTSW |
12 |
85,367,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Nek9
|
UTSW |
12 |
85,367,666 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4669:Nek9
|
UTSW |
12 |
85,360,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4993:Nek9
|
UTSW |
12 |
85,357,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:Nek9
|
UTSW |
12 |
85,374,233 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5090:Nek9
|
UTSW |
12 |
85,376,616 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5248:Nek9
|
UTSW |
12 |
85,355,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5521:Nek9
|
UTSW |
12 |
85,374,219 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5734:Nek9
|
UTSW |
12 |
85,350,289 (GRCm39) |
missense |
probably benign |
|
|
R6039:Nek9
|
UTSW |
12 |
85,359,859 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6039:Nek9
|
UTSW |
12 |
85,359,859 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6269:Nek9
|
UTSW |
12 |
85,379,103 (GRCm39) |
splice site |
probably null |
|
|
R6353:Nek9
|
UTSW |
12 |
85,348,603 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6406:Nek9
|
UTSW |
12 |
85,385,946 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6922:Nek9
|
UTSW |
12 |
85,350,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7603:Nek9
|
UTSW |
12 |
85,350,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7686:Nek9
|
UTSW |
12 |
85,350,433 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7905:Nek9
|
UTSW |
12 |
85,352,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7964:Nek9
|
UTSW |
12 |
85,385,787 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8165:Nek9
|
UTSW |
12 |
85,350,417 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8330:Nek9
|
UTSW |
12 |
85,376,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8802:Nek9
|
UTSW |
12 |
85,374,192 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8859:Nek9
|
UTSW |
12 |
85,353,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Nek9
|
UTSW |
12 |
85,367,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9055:Nek9
|
UTSW |
12 |
85,348,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9261:Nek9
|
UTSW |
12 |
85,359,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9661:Nek9
|
UTSW |
12 |
85,361,253 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
X0052:Nek9
|
UTSW |
12 |
85,368,801 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Nek9
|
UTSW |
12 |
85,380,819 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACTACAGGTGATTTCTGTTCAGG -3'
(R):5'- ACTTGAGACCTTGAGTTGGC -3'
Sequencing Primer
(F):5'- TGTTCAGGAAATCAGAATTTTAGGAG -3'
(R):5'- AGACCTTGAGTTGGCATCGTCTC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation