Incidental Mutation 'R0142:Nek10'
| ID |
26567 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nek10
|
| Ensembl Gene |
ENSMUSG00000042567 |
| Gene Name |
NIMA (never in mitosis gene a)- related kinase 10 |
| Synonyms |
LOC238944 |
| MMRRC Submission |
038427-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0142 (G1)
|
| Quality Score |
118 |
|
Status
|
Validated
(trace)
|
| Chromosome |
14 |
| Chromosomal Location |
7457704-7666183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 14861560 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 539
(R539C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112630]
[ENSMUST00000112631]
[ENSMUST00000224491]
|
| AlphaFold |
Q3UGM2 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000063220
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112630
AA Change: R539C
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108249
Gene: ENSMUSG00000042567
AA Change: R539C
| Domain | Start | End | E-Value | Type |
|---|
|
ARM
|
197 |
238 |
8.23e1 |
SMART |
|
ARM
|
278 |
320 |
5.18e0 |
SMART |
|
low complexity region
|
387 |
400 |
N/A |
INTRINSIC |
|
ARM
|
401 |
448 |
7.09e1 |
SMART |
|
S_TKc
|
519 |
791 |
2.36e-75 |
SMART |
|
low complexity region
|
799 |
811 |
N/A |
INTRINSIC |
|
low complexity region
|
839 |
863 |
N/A |
INTRINSIC |
|
low complexity region
|
908 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112631
AA Change: R539C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108250
Gene: ENSMUSG00000042567
AA Change: R539C
| Domain | Start | End | E-Value | Type |
|---|
|
ARM
|
197 |
238 |
8.23e1 |
SMART |
|
ARM
|
278 |
320 |
5.18e0 |
SMART |
|
low complexity region
|
387 |
400 |
N/A |
INTRINSIC |
|
ARM
|
401 |
448 |
7.09e1 |
SMART |
|
S_TKc
|
519 |
791 |
2.36e-75 |
SMART |
|
low complexity region
|
799 |
811 |
N/A |
INTRINSIC |
|
low complexity region
|
839 |
863 |
N/A |
INTRINSIC |
|
low complexity region
|
908 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134866
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224491
AA Change: R539C
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 87.6%
|
| Validation Efficiency |
92% (61/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
G |
11: 110,079,467 (GRCm39) |
D1229A |
probably damaging |
Het |
| Abhd8 |
A |
C |
8: 71,914,506 (GRCm39) |
F41V |
probably damaging |
Het |
| Ago4 |
T |
G |
4: 126,410,725 (GRCm39) |
E222A |
probably benign |
Het |
| Ap3b2 |
T |
C |
7: 81,122,828 (GRCm39) |
I470V |
probably damaging |
Het |
| Bcl9l |
C |
T |
9: 44,418,409 (GRCm39) |
T749M |
probably benign |
Het |
| Bicc1 |
T |
C |
10: 70,761,200 (GRCm39) |
K937E |
probably damaging |
Het |
| Bmi1 |
G |
A |
2: 18,688,095 (GRCm39) |
|
probably null |
Het |
| Boc |
A |
C |
16: 44,310,604 (GRCm39) |
I772S |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,695,654 (GRCm39) |
S1347P |
possibly damaging |
Het |
| C2 |
T |
A |
17: 35,092,504 (GRCm39) |
I178F |
possibly damaging |
Het |
| Cacna1c |
G |
T |
6: 118,580,843 (GRCm39) |
A1416E |
probably damaging |
Het |
| Chst10 |
A |
G |
1: 38,910,810 (GRCm39) |
L118P |
probably damaging |
Het |
| Crybg1 |
G |
A |
10: 43,875,059 (GRCm39) |
T683I |
possibly damaging |
Het |
| Cul5 |
C |
T |
9: 53,546,350 (GRCm39) |
V314I |
probably damaging |
Het |
| Dnajc17 |
C |
A |
2: 119,010,415 (GRCm39) |
R211I |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,071,264 (GRCm39) |
T16A |
probably benign |
Het |
| Ercc6l2 |
A |
C |
13: 64,020,320 (GRCm39) |
|
probably benign |
Het |
| Fsd2 |
T |
A |
7: 81,209,683 (GRCm39) |
D53V |
probably damaging |
Het |
| Galnt13 |
A |
G |
2: 54,988,615 (GRCm39) |
D479G |
probably damaging |
Het |
| Grk3 |
A |
T |
5: 113,062,919 (GRCm39) |
W643R |
probably damaging |
Het |
| Hdgf |
G |
A |
3: 87,820,416 (GRCm39) |
A4T |
possibly damaging |
Het |
| Hnrnpr |
T |
A |
4: 136,054,593 (GRCm39) |
V182E |
probably damaging |
Het |
| Ipo13 |
A |
C |
4: 117,762,766 (GRCm39) |
L279R |
probably damaging |
Het |
| Itga9 |
C |
A |
9: 118,465,654 (GRCm39) |
N169K |
probably damaging |
Het |
| Jph3 |
A |
G |
8: 122,480,110 (GRCm39) |
T263A |
possibly damaging |
Het |
| Jph4 |
G |
T |
14: 55,345,783 (GRCm39) |
Q625K |
probably benign |
Het |
| Kctd3 |
A |
C |
1: 188,728,595 (GRCm39) |
|
probably null |
Het |
| Kif26b |
A |
T |
1: 178,742,954 (GRCm39) |
S570C |
probably damaging |
Het |
| Klhl5 |
G |
A |
5: 65,300,693 (GRCm39) |
W164* |
probably null |
Het |
| Lacc1 |
A |
T |
14: 77,268,239 (GRCm39) |
H357Q |
probably benign |
Het |
| Lama2 |
A |
G |
10: 27,063,841 (GRCm39) |
I1316T |
probably benign |
Het |
| Lcp2 |
C |
T |
11: 34,032,418 (GRCm39) |
P332L |
probably damaging |
Het |
| Map3k6 |
A |
T |
4: 132,978,257 (GRCm39) |
H1033L |
probably benign |
Het |
| Mfsd2b |
A |
G |
12: 4,916,234 (GRCm39) |
V252A |
probably benign |
Het |
| Myo16 |
T |
A |
8: 10,619,790 (GRCm39) |
I1447N |
probably benign |
Het |
| Myo19 |
G |
A |
11: 84,785,429 (GRCm39) |
R224H |
probably damaging |
Het |
| Myo5a |
C |
T |
9: 75,067,856 (GRCm39) |
H637Y |
probably benign |
Het |
| Nfix |
A |
T |
8: 85,448,315 (GRCm39) |
V404E |
probably damaging |
Het |
| Nr1i2 |
T |
C |
16: 38,073,368 (GRCm39) |
R203G |
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,079,420 (GRCm39) |
G968D |
probably damaging |
Het |
| Or10q1 |
A |
T |
19: 13,726,619 (GRCm39) |
I50F |
probably benign |
Het |
| Or2ag15 |
G |
T |
7: 106,340,972 (GRCm39) |
H56Q |
probably benign |
Het |
| Or8b37 |
A |
T |
9: 37,959,406 (GRCm39) |
H296L |
probably benign |
Het |
| Phlpp2 |
C |
T |
8: 110,634,145 (GRCm39) |
R242W |
probably damaging |
Het |
| Plcz1 |
A |
G |
6: 139,953,423 (GRCm39) |
F398S |
probably damaging |
Het |
| Ppfibp2 |
C |
A |
7: 107,343,384 (GRCm39) |
P808T |
probably damaging |
Het |
| Srpk2 |
T |
C |
5: 23,732,928 (GRCm39) |
K239E |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,118,232 (GRCm39) |
V830A |
probably benign |
Het |
| Tesc |
A |
T |
5: 118,194,635 (GRCm39) |
I149F |
possibly damaging |
Het |
| Thsd7a |
A |
G |
6: 12,418,334 (GRCm39) |
W632R |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,730,212 (GRCm39) |
D704G |
possibly damaging |
Het |
| Tob1 |
T |
C |
11: 94,105,423 (GRCm39) |
Y320H |
probably damaging |
Het |
| Trpm3 |
G |
T |
19: 22,965,280 (GRCm39) |
D1582Y |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,425,323 (GRCm39) |
K1716R |
probably benign |
Het |
| Uqcrfs1 |
A |
G |
13: 30,724,925 (GRCm39) |
V205A |
probably benign |
Het |
| Usp29 |
G |
A |
7: 6,965,334 (GRCm39) |
M392I |
probably benign |
Het |
| Uspl1 |
A |
T |
5: 149,125,159 (GRCm39) |
Y22F |
possibly damaging |
Het |
| Virma |
C |
A |
4: 11,548,783 (GRCm39) |
N1780K |
probably benign |
Het |
| Vmn1r56 |
C |
T |
7: 5,199,372 (GRCm39) |
A82T |
probably benign |
Het |
| Vmn2r5 |
A |
T |
3: 64,400,009 (GRCm39) |
C553S |
probably damaging |
Het |
| Vwce |
A |
T |
19: 10,641,976 (GRCm39) |
R901W |
probably damaging |
Het |
| Wdpcp |
C |
A |
11: 21,807,444 (GRCm39) |
|
probably null |
Het |
| Zfp423 |
A |
T |
8: 88,506,968 (GRCm39) |
C1000* |
probably null |
Het |
| Zscan20 |
A |
G |
4: 128,479,630 (GRCm39) |
F954L |
probably benign |
Het |
|
| Other mutations in Nek10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01361:Nek10
|
APN |
14 |
14,850,957 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02067:Nek10
|
APN |
14 |
14,861,639 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL02361:Nek10
|
APN |
14 |
14,843,856 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02687:Nek10
|
APN |
14 |
14,840,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02929:Nek10
|
APN |
14 |
14,821,119 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL03229:Nek10
|
APN |
14 |
14,986,686 (GRCm38) |
missense |
probably benign |
0.10 |
|
P0041:Nek10
|
UTSW |
14 |
14,861,603 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0007:Nek10
|
UTSW |
14 |
14,840,574 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0007:Nek10
|
UTSW |
14 |
14,840,574 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0433:Nek10
|
UTSW |
14 |
14,860,927 (GRCm38) |
missense |
probably benign |
0.32 |
|
R0633:Nek10
|
UTSW |
14 |
14,857,782 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1087:Nek10
|
UTSW |
14 |
14,827,059 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R1184:Nek10
|
UTSW |
14 |
14,931,325 (GRCm38) |
splice site |
probably benign |
|
|
R1250:Nek10
|
UTSW |
14 |
14,853,887 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1371:Nek10
|
UTSW |
14 |
14,850,983 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1506:Nek10
|
UTSW |
14 |
14,999,078 (GRCm38) |
splice site |
probably benign |
|
|
R1829:Nek10
|
UTSW |
14 |
14,863,454 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1831:Nek10
|
UTSW |
14 |
14,842,789 (GRCm38) |
missense |
probably benign |
|
|
R1833:Nek10
|
UTSW |
14 |
14,842,789 (GRCm38) |
missense |
probably benign |
|
|
R1990:Nek10
|
UTSW |
14 |
14,860,764 (GRCm38) |
missense |
probably benign |
|
|
R1997:Nek10
|
UTSW |
14 |
14,827,003 (GRCm38) |
missense |
probably benign |
0.09 |
|
R2011:Nek10
|
UTSW |
14 |
14,885,122 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2158:Nek10
|
UTSW |
14 |
14,885,047 (GRCm38) |
splice site |
probably null |
|
|
R2288:Nek10
|
UTSW |
14 |
14,853,956 (GRCm38) |
nonsense |
probably null |
|
|
R2568:Nek10
|
UTSW |
14 |
14,999,112 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R2907:Nek10
|
UTSW |
14 |
14,980,613 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R2965:Nek10
|
UTSW |
14 |
14,836,202 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3922:Nek10
|
UTSW |
14 |
14,861,585 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4032:Nek10
|
UTSW |
14 |
14,853,877 (GRCm38) |
splice site |
probably null |
|
|
R4700:Nek10
|
UTSW |
14 |
14,842,841 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R4742:Nek10
|
UTSW |
14 |
14,861,624 (GRCm38) |
missense |
probably null |
0.03 |
|
R4785:Nek10
|
UTSW |
14 |
14,855,714 (GRCm38) |
missense |
probably benign |
|
|
R4890:Nek10
|
UTSW |
14 |
14,860,986 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4891:Nek10
|
UTSW |
14 |
14,860,986 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4920:Nek10
|
UTSW |
14 |
14,860,986 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4924:Nek10
|
UTSW |
14 |
14,846,594 (GRCm38) |
splice site |
probably null |
|
|
R4928:Nek10
|
UTSW |
14 |
14,930,577 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4948:Nek10
|
UTSW |
14 |
14,860,986 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4952:Nek10
|
UTSW |
14 |
14,860,986 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4953:Nek10
|
UTSW |
14 |
14,860,986 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R5092:Nek10
|
UTSW |
14 |
14,820,851 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5097:Nek10
|
UTSW |
14 |
14,857,851 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5593:Nek10
|
UTSW |
14 |
14,980,544 (GRCm38) |
nonsense |
probably null |
|
|
R5696:Nek10
|
UTSW |
14 |
14,860,736 (GRCm38) |
splice site |
probably null |
|
|
R5813:Nek10
|
UTSW |
14 |
14,986,704 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5829:Nek10
|
UTSW |
14 |
14,865,404 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5872:Nek10
|
UTSW |
14 |
14,850,896 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5939:Nek10
|
UTSW |
14 |
14,931,290 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R6025:Nek10
|
UTSW |
14 |
14,865,633 (GRCm38) |
missense |
probably benign |
0.41 |
|
R6235:Nek10
|
UTSW |
14 |
14,821,113 (GRCm38) |
nonsense |
probably null |
|
|
R6539:Nek10
|
UTSW |
14 |
14,860,789 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6542:Nek10
|
UTSW |
14 |
14,999,108 (GRCm38) |
missense |
probably benign |
0.44 |
|
R6561:Nek10
|
UTSW |
14 |
14,828,448 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R6659:Nek10
|
UTSW |
14 |
14,861,684 (GRCm38) |
missense |
probably benign |
0.29 |
|
R7039:Nek10
|
UTSW |
14 |
14,986,700 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7039:Nek10
|
UTSW |
14 |
14,826,946 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7102:Nek10
|
UTSW |
14 |
14,828,517 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7185:Nek10
|
UTSW |
14 |
14,846,621 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7198:Nek10
|
UTSW |
14 |
14,850,947 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7202:Nek10
|
UTSW |
14 |
14,836,171 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7251:Nek10
|
UTSW |
14 |
14,853,965 (GRCm38) |
missense |
probably benign |
|
|
R7345:Nek10
|
UTSW |
14 |
14,955,503 (GRCm38) |
missense |
probably benign |
|
|
R7590:Nek10
|
UTSW |
14 |
15,006,693 (GRCm38) |
makesense |
probably null |
|
|
R7593:Nek10
|
UTSW |
14 |
14,826,955 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7616:Nek10
|
UTSW |
14 |
14,937,759 (GRCm38) |
missense |
probably benign |
0.27 |
|
R7635:Nek10
|
UTSW |
14 |
14,850,932 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7817:Nek10
|
UTSW |
14 |
15,001,017 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7826:Nek10
|
UTSW |
14 |
14,860,846 (GRCm38) |
splice site |
probably null |
|
|
R7986:Nek10
|
UTSW |
14 |
15,001,020 (GRCm38) |
missense |
probably benign |
0.17 |
|
R8765:Nek10
|
UTSW |
14 |
14,999,104 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8856:Nek10
|
UTSW |
14 |
14,937,610 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8973:Nek10
|
UTSW |
14 |
14,931,321 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9002:Nek10
|
UTSW |
14 |
14,980,590 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9088:Nek10
|
UTSW |
14 |
14,931,314 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9195:Nek10
|
UTSW |
14 |
14,821,139 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9464:Nek10
|
UTSW |
14 |
14,937,766 (GRCm38) |
missense |
probably benign |
|
|
R9511:Nek10
|
UTSW |
14 |
14,828,511 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9529:Nek10
|
UTSW |
14 |
14,850,833 (GRCm38) |
missense |
probably benign |
|
|
R9590:Nek10
|
UTSW |
14 |
14,853,888 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Nek10
|
UTSW |
14 |
15,001,157 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Nek10
|
UTSW |
14 |
14,853,948 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTCTACACCTGCCCAGGGAAAG -3'
(R):5'- GCATCCAAGGCCCTGCTATAAACTC -3'
Sequencing Primer
(F):5'- AAAGCCTGTTGAGTCCTGC -3'
(R):5'- ACCAATGTCCAGTATTTCATACCG -3'
|
| Posted On |
2013-04-17 |
Incidental Mutation