Incidental Mutation 'R5813:Nek10'
ID |
447646 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nek10
|
Ensembl Gene |
ENSMUSG00000042567 |
Gene Name |
NIMA (never in mitosis gene a)- related kinase 10 |
Synonyms |
LOC238944 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5813 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
7457704-7666183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 14986704 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1014
(V1014A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108250
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112630]
[ENSMUST00000112631]
[ENSMUST00000224491]
|
AlphaFold |
Q3UGM2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000112630
AA Change: V1003A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000108249 Gene: ENSMUSG00000042567 AA Change: V1003A
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 |
probably benign
Transcript: ENSMUST00000112631
AA Change: V1014A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000108250 Gene: ENSMUSG00000042567 AA Change: V1014A
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 |
probably benign
Transcript: ENSMUST00000136826
|
SMART Domains |
Protein: ENSMUSP00000123151 Gene: ENSMUSG00000042567
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
1 |
87 |
5.1e-13 |
PFAM |
Pfam:Pkinase_Tyr
|
1 |
87 |
4.2e-8 |
PFAM |
low complexity region
|
103 |
115 |
N/A |
INTRINSIC |
low complexity region
|
143 |
167 |
N/A |
INTRINSIC |
low complexity region
|
212 |
230 |
N/A |
INTRINSIC |
low complexity region
|
257 |
268 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224491
AA Change: V1003A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam15 |
A |
G |
3: 89,253,135 (GRCm39) |
Y230H |
probably benign |
Het |
Ano7 |
G |
T |
1: 93,312,641 (GRCm39) |
|
probably null |
Het |
Arap2 |
T |
C |
5: 62,834,506 (GRCm39) |
Y792C |
probably damaging |
Het |
Art3 |
C |
A |
5: 92,560,100 (GRCm39) |
|
probably benign |
Het |
Atad2 |
C |
T |
15: 57,963,250 (GRCm39) |
G1085D |
probably benign |
Het |
Birc6 |
C |
A |
17: 74,953,497 (GRCm39) |
A3253E |
probably damaging |
Het |
C9 |
C |
T |
15: 6,526,607 (GRCm39) |
P547L |
probably benign |
Het |
Cecr2 |
T |
C |
6: 120,739,169 (GRCm39) |
S1271P |
probably damaging |
Het |
Ces1e |
T |
A |
8: 93,948,305 (GRCm39) |
K105* |
probably null |
Het |
Cpsf4 |
A |
G |
5: 145,115,683 (GRCm39) |
N204S |
probably benign |
Het |
Cracd |
A |
G |
5: 77,006,275 (GRCm39) |
T879A |
unknown |
Het |
Dgkz |
T |
C |
2: 91,769,733 (GRCm39) |
D615G |
possibly damaging |
Het |
Disp1 |
G |
T |
1: 182,869,974 (GRCm39) |
N815K |
probably damaging |
Het |
Enah |
A |
G |
1: 181,758,750 (GRCm39) |
|
probably benign |
Het |
Fcgbp |
A |
G |
7: 27,800,919 (GRCm39) |
T1322A |
possibly damaging |
Het |
Frem1 |
A |
G |
4: 82,918,395 (GRCm39) |
F516L |
probably damaging |
Het |
Fry |
G |
A |
5: 150,323,136 (GRCm39) |
A1096T |
probably damaging |
Het |
Fyco1 |
T |
C |
9: 123,660,413 (GRCm39) |
Y190C |
probably damaging |
Het |
Gfra1 |
T |
C |
19: 58,227,687 (GRCm39) |
D417G |
probably benign |
Het |
Gigyf2 |
T |
C |
1: 87,368,485 (GRCm39) |
I1055T |
probably damaging |
Het |
Invs |
A |
G |
4: 48,398,146 (GRCm39) |
E444G |
probably damaging |
Het |
Itga10 |
A |
G |
3: 96,559,901 (GRCm39) |
T519A |
probably benign |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kdm2b |
A |
G |
5: 123,009,931 (GRCm39) |
S727P |
probably benign |
Het |
Kidins220 |
A |
T |
12: 25,107,139 (GRCm39) |
K1531* |
probably null |
Het |
Ksr1 |
C |
T |
11: 78,929,024 (GRCm39) |
V266M |
probably damaging |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Lipi |
T |
C |
16: 75,370,798 (GRCm39) |
R140G |
possibly damaging |
Het |
Lrrc32 |
T |
C |
7: 98,147,618 (GRCm39) |
S133P |
probably damaging |
Het |
Map3k7 |
T |
A |
4: 31,964,318 (GRCm39) |
I19N |
probably damaging |
Het |
Marf1 |
A |
G |
16: 13,970,449 (GRCm39) |
V90A |
probably benign |
Het |
Mark3 |
T |
C |
12: 111,621,877 (GRCm39) |
L673P |
probably damaging |
Het |
Meis1 |
T |
C |
11: 18,966,229 (GRCm39) |
H48R |
probably benign |
Het |
Mettl26 |
G |
A |
17: 26,094,995 (GRCm39) |
V87M |
probably damaging |
Het |
Mknk2 |
T |
C |
10: 80,511,696 (GRCm39) |
R5G |
probably benign |
Het |
Mtcl3 |
G |
T |
10: 29,026,240 (GRCm39) |
V441F |
probably damaging |
Het |
Mterf1b |
T |
C |
5: 4,246,956 (GRCm39) |
V199A |
possibly damaging |
Het |
Ncs1 |
T |
A |
2: 31,170,666 (GRCm39) |
|
probably null |
Het |
Notch2 |
A |
G |
3: 98,042,744 (GRCm39) |
N1370D |
probably benign |
Het |
Nr2e3 |
TCCATCGGAGTGTTCCC |
TC |
9: 59,850,701 (GRCm39) |
|
probably benign |
Het |
Opn5 |
C |
G |
17: 42,903,897 (GRCm39) |
R146T |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or5m3 |
T |
C |
2: 85,838,636 (GRCm39) |
I172T |
probably damaging |
Het |
Or8b55 |
T |
A |
9: 38,726,952 (GRCm39) |
M51K |
probably benign |
Het |
Or8g33 |
A |
G |
9: 39,338,032 (GRCm39) |
C112R |
probably damaging |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Pcyox1l |
C |
T |
18: 61,832,359 (GRCm39) |
|
probably null |
Het |
Plxnb2 |
T |
C |
15: 89,044,962 (GRCm39) |
T1128A |
possibly damaging |
Het |
Prex1 |
T |
C |
2: 166,425,127 (GRCm39) |
T960A |
probably benign |
Het |
Prkaa2 |
A |
C |
4: 104,893,291 (GRCm39) |
*553G |
probably null |
Het |
Rasgrp4 |
A |
G |
7: 28,844,639 (GRCm39) |
D297G |
probably damaging |
Het |
Sdf4 |
G |
A |
4: 156,083,856 (GRCm39) |
V109I |
probably benign |
Het |
Serpinb3d |
T |
C |
1: 107,007,027 (GRCm39) |
K227R |
probably benign |
Het |
Sgsm1 |
A |
T |
5: 113,398,822 (GRCm39) |
I750N |
probably damaging |
Het |
Shtn1 |
T |
A |
19: 59,020,673 (GRCm39) |
K183M |
probably damaging |
Het |
Skic3 |
A |
G |
13: 76,303,852 (GRCm39) |
T1257A |
probably benign |
Het |
Slc22a30 |
T |
C |
19: 8,381,945 (GRCm39) |
T109A |
probably benign |
Het |
Slco1c1 |
A |
G |
6: 141,487,929 (GRCm39) |
D99G |
probably damaging |
Het |
Tcf25 |
T |
A |
8: 124,122,354 (GRCm39) |
|
probably null |
Het |
Tex10 |
A |
G |
4: 48,452,928 (GRCm39) |
V677A |
probably benign |
Het |
Tmem131l |
A |
G |
3: 83,847,879 (GRCm39) |
S329P |
probably benign |
Het |
Trappc10 |
T |
A |
10: 78,058,573 (GRCm39) |
N136I |
probably damaging |
Het |
Trpt1 |
T |
C |
19: 6,975,906 (GRCm39) |
F173L |
probably benign |
Het |
Ube4b |
G |
A |
4: 149,421,925 (GRCm39) |
R955C |
probably damaging |
Het |
Usp34 |
C |
A |
11: 23,371,340 (GRCm39) |
P1840T |
probably benign |
Het |
Vmn1r27 |
A |
T |
6: 58,192,985 (GRCm39) |
N6K |
possibly damaging |
Het |
Wdr25 |
T |
C |
12: 108,993,347 (GRCm39) |
V521A |
possibly damaging |
Het |
Wdr64 |
G |
A |
1: 175,639,623 (GRCm39) |
E1031K |
possibly damaging |
Het |
Wnt10a |
A |
G |
1: 74,839,755 (GRCm39) |
N147S |
probably damaging |
Het |
Zbed5 |
T |
C |
5: 129,931,059 (GRCm39) |
I336T |
possibly damaging |
Het |
Zfp758 |
T |
A |
17: 22,594,796 (GRCm39) |
H427Q |
probably damaging |
Het |
Zfp961 |
C |
A |
8: 72,722,070 (GRCm39) |
H194Q |
probably damaging |
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 |
R0142:Nek10
|
UTSW |
14 |
14,861,560 (GRCm38) |
missense |
possibly damaging |
0.96 |
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 |
|
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'- AATTTGCTAACTCAGAGTCCTCC -3'
(R):5'- CAGCCACCTGGAGCTAATAG -3'
Sequencing Primer
(F):5'- GCTAACTCAGAGTCCTCCTTAGG -3'
(R):5'- GGGAAGGTGGACCCATTTG -3'
|
Posted On |
2016-12-15 |