Incidental Mutation 'R7039:Nek10'
ID |
546963 |
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 |
045139-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7039 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
7457704-7666183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 14826946 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 48
(I48T)
|
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: I48T
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000108249 Gene: ENSMUSG00000042567 AA Change: I48T
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: I48T
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000108250 Gene: ENSMUSG00000042567 AA Change: I48T
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: ENSMUST00000224491
AA Change: I48T
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl7b |
A |
T |
4: 56,741,022 (GRCm39) |
L112Q |
probably damaging |
Het |
Agap3 |
A |
C |
5: 24,688,399 (GRCm39) |
I396L |
probably benign |
Het |
AI987944 |
G |
T |
7: 41,023,880 (GRCm39) |
S366R |
probably benign |
Het |
Aox3 |
A |
G |
1: 58,215,714 (GRCm39) |
T1049A |
probably damaging |
Het |
Ap1g2 |
A |
T |
14: 55,340,111 (GRCm39) |
L407* |
probably null |
Het |
Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
Brd3 |
T |
C |
2: 27,346,929 (GRCm39) |
K402E |
probably damaging |
Het |
Cc2d2b |
A |
T |
19: 40,790,845 (GRCm39) |
D935V |
probably damaging |
Het |
Cenpe |
A |
G |
3: 134,961,217 (GRCm39) |
N1904D |
probably benign |
Het |
Cfap74 |
G |
T |
4: 155,538,565 (GRCm39) |
|
probably null |
Het |
Chrdl2 |
A |
G |
7: 99,677,879 (GRCm39) |
T261A |
probably damaging |
Het |
Cyp4a14 |
G |
A |
4: 115,348,278 (GRCm39) |
R400C |
probably benign |
Het |
Dhfr |
G |
A |
13: 92,491,791 (GRCm39) |
V9I |
probably benign |
Het |
Epha4 |
A |
G |
1: 77,483,422 (GRCm39) |
S196P |
probably damaging |
Het |
Evc2 |
T |
A |
5: 37,579,232 (GRCm39) |
L1115Q |
probably damaging |
Het |
Fat3 |
T |
A |
9: 16,287,561 (GRCm39) |
E654V |
probably damaging |
Het |
Fcgbpl1 |
G |
A |
7: 27,839,573 (GRCm39) |
R462Q |
possibly damaging |
Het |
Fer1l4 |
C |
T |
2: 155,878,650 (GRCm39) |
V14I |
probably benign |
Het |
Frmd5 |
A |
T |
2: 121,378,128 (GRCm39) |
|
probably benign |
Het |
Helz |
T |
C |
11: 107,510,144 (GRCm39) |
|
probably null |
Het |
Igkv6-13 |
T |
C |
6: 70,434,498 (GRCm39) |
S116G |
probably benign |
Het |
Iscu |
T |
C |
5: 113,914,833 (GRCm39) |
V115A |
possibly damaging |
Het |
Jade2 |
C |
A |
11: 51,719,186 (GRCm39) |
K253N |
probably damaging |
Het |
Katnal2 |
A |
G |
18: 77,134,868 (GRCm39) |
|
probably null |
Het |
Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
Magi3 |
T |
C |
3: 103,958,699 (GRCm39) |
D462G |
probably damaging |
Het |
Map3k14 |
T |
C |
11: 103,111,861 (GRCm39) |
N940S |
probably damaging |
Het |
Masp2 |
A |
T |
4: 148,687,043 (GRCm39) |
M1L |
probably benign |
Het |
Mga |
G |
A |
2: 119,763,159 (GRCm39) |
V1272I |
probably benign |
Het |
Mib2 |
T |
C |
4: 155,744,158 (GRCm39) |
D168G |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Msto1 |
A |
C |
3: 88,818,697 (GRCm39) |
V287G |
probably damaging |
Het |
Myo5b |
T |
A |
18: 74,834,599 (GRCm39) |
D886E |
probably benign |
Het |
Nipsnap3a |
T |
C |
4: 53,000,130 (GRCm39) |
V194A |
probably damaging |
Het |
Nlrp9a |
A |
T |
7: 26,267,367 (GRCm39) |
T766S |
probably benign |
Het |
Nol10 |
T |
A |
12: 17,479,185 (GRCm39) |
S672T |
possibly damaging |
Het |
Or4a80 |
A |
T |
2: 89,583,095 (GRCm39) |
F26I |
probably benign |
Het |
Or4c121 |
A |
T |
2: 89,023,790 (GRCm39) |
I196N |
probably damaging |
Het |
Or8d1b |
T |
A |
9: 38,887,283 (GRCm39) |
F104I |
probably damaging |
Het |
Or8j3c |
A |
T |
2: 86,253,177 (GRCm39) |
I281K |
possibly damaging |
Het |
Patj |
T |
A |
4: 98,457,315 (GRCm39) |
N1272K |
probably damaging |
Het |
Peak1 |
T |
C |
9: 56,165,093 (GRCm39) |
E945G |
probably benign |
Het |
Peg3 |
C |
T |
7: 6,720,858 (GRCm39) |
D16N |
probably damaging |
Het |
Pik3r4 |
T |
G |
9: 105,554,089 (GRCm39) |
I1082M |
possibly damaging |
Het |
Plekhg5 |
T |
A |
4: 152,192,242 (GRCm39) |
M472K |
possibly damaging |
Het |
Plekhm1 |
T |
C |
11: 103,286,054 (GRCm39) |
D127G |
probably damaging |
Het |
Ppfia4 |
G |
A |
1: 134,239,853 (GRCm39) |
S908L |
probably damaging |
Het |
Psmc3 |
A |
G |
2: 90,885,391 (GRCm39) |
N60S |
probably benign |
Het |
Rapgef1 |
T |
A |
2: 29,616,226 (GRCm39) |
D697E |
probably damaging |
Het |
Rapgef3 |
T |
A |
15: 97,659,449 (GRCm39) |
H54L |
probably benign |
Het |
Rhobtb3 |
G |
A |
13: 76,020,572 (GRCm39) |
R577* |
probably null |
Het |
Safb2 |
T |
C |
17: 56,871,594 (GRCm39) |
E218G |
possibly damaging |
Het |
Scaf1 |
C |
T |
7: 44,657,850 (GRCm39) |
R343H |
probably damaging |
Het |
Snx24 |
G |
A |
18: 53,473,307 (GRCm39) |
|
probably null |
Het |
Tbc1d1 |
T |
C |
5: 64,442,100 (GRCm39) |
F707L |
probably benign |
Het |
Tcaf2 |
T |
C |
6: 42,603,074 (GRCm39) |
T829A |
probably damaging |
Het |
Tcea2 |
C |
T |
2: 181,328,711 (GRCm39) |
Q248* |
probably null |
Het |
Tcirg1 |
A |
T |
19: 3,946,666 (GRCm39) |
L729Q |
probably damaging |
Het |
Thap3 |
A |
G |
4: 152,070,149 (GRCm39) |
F82L |
probably damaging |
Het |
Ttk |
T |
A |
9: 83,750,145 (GRCm39) |
M700K |
probably damaging |
Het |
Ubap2l |
G |
T |
3: 89,909,662 (GRCm39) |
P56H |
probably damaging |
Het |
Ubr2 |
A |
G |
17: 47,321,139 (GRCm39) |
S3P |
probably benign |
Het |
Uchl3 |
C |
T |
14: 101,923,128 (GRCm39) |
|
probably benign |
Het |
Vmn2r111 |
T |
A |
17: 22,767,165 (GRCm39) |
E777D |
probably damaging |
Het |
Vmn2r20 |
A |
T |
6: 123,363,082 (GRCm39) |
D567E |
probably damaging |
Het |
Vps13c |
T |
G |
9: 67,845,045 (GRCm39) |
L2043R |
probably damaging |
Het |
Zan |
T |
G |
5: 137,398,396 (GRCm39) |
D4212A |
unknown |
Het |
Zap70 |
C |
T |
1: 36,817,832 (GRCm39) |
P278S |
probably benign |
Het |
Zbtb8b |
A |
T |
4: 129,321,478 (GRCm39) |
M461K |
possibly damaging |
Het |
Zfat |
T |
G |
15: 68,052,211 (GRCm39) |
I528L |
probably benign |
Het |
Zfp532 |
T |
G |
18: 65,771,834 (GRCm39) |
V784G |
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 |
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 |
|
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 |
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'- GGGGTAAATGCTACGGTAATCC -3'
(R):5'- CCCTATCCTGGGGAACATTTTAAATG -3'
Sequencing Primer
(F):5'- GGTAAATGCTACGGTAATCCTCACG -3'
(R):5'- GCAGACTTCAAATTTTCACTTCTGTG -3'
|
Posted On |
2019-05-13 |