Incidental Mutation 'R4952:Nek10'
ID |
382092 |
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 |
042549-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4952 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
14803415-15012059 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 14860986 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 513
(L513M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153142
(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: L513M
PolyPhen 2
Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000108249 Gene: ENSMUSG00000042567 AA Change: L513M
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: L513M
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000108250 Gene: ENSMUSG00000042567 AA Change: L513M
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: L513M
PolyPhen 2
Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
|
Meta Mutation Damage Score |
0.0762  |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.0%
|
Validation Efficiency |
99% (93/94) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
G |
5: 109,739,197 (GRCm38) |
|
probably null |
Het |
4933421I07Rik |
T |
C |
7: 42,447,659 (GRCm38) |
Y76C |
possibly damaging |
Het |
Adcy4 |
C |
T |
14: 55,779,029 (GRCm38) |
D322N |
probably damaging |
Het |
Ak9 |
A |
G |
10: 41,420,589 (GRCm38) |
M1444V |
probably benign |
Het |
Amfr |
A |
G |
8: 93,973,159 (GRCm38) |
|
probably benign |
Het |
Ankef1 |
A |
G |
2: 136,550,529 (GRCm38) |
E546G |
probably damaging |
Het |
Ankrd24 |
A |
G |
10: 81,647,148 (GRCm38) |
M977V |
probably benign |
Het |
Ap3m1 |
A |
T |
14: 21,040,066 (GRCm38) |
S5T |
probably benign |
Het |
Aqr |
C |
A |
2: 114,109,937 (GRCm38) |
D1243Y |
probably damaging |
Het |
Arhgef2 |
T |
C |
3: 88,642,462 (GRCm38) |
L591P |
probably damaging |
Het |
Arid4a |
C |
A |
12: 71,023,525 (GRCm38) |
T70K |
possibly damaging |
Het |
Asphd1 |
C |
T |
7: 126,948,685 (GRCm38) |
A149T |
probably benign |
Het |
Avpr1a |
T |
A |
10: 122,449,754 (GRCm38) |
M317K |
probably damaging |
Het |
Birc2 |
T |
C |
9: 7,836,740 (GRCm38) |
I109V |
probably damaging |
Het |
Catsperd |
A |
G |
17: 56,632,303 (GRCm38) |
Y44C |
probably damaging |
Het |
Ccdc114 |
A |
C |
7: 45,942,191 (GRCm38) |
E293A |
probably damaging |
Het |
Crygb |
T |
G |
1: 65,082,109 (GRCm38) |
S20R |
probably benign |
Het |
Cyp3a25 |
T |
C |
5: 145,991,524 (GRCm38) |
N237S |
probably benign |
Het |
Dkk3 |
C |
T |
7: 112,118,351 (GRCm38) |
A304T |
probably benign |
Het |
Dst |
T |
C |
1: 34,271,422 (GRCm38) |
L4101S |
probably damaging |
Het |
Dysf |
A |
G |
6: 84,149,986 (GRCm38) |
N1407S |
possibly damaging |
Het |
Epb41 |
A |
G |
4: 132,000,270 (GRCm38) |
V265A |
probably damaging |
Het |
Faim2 |
C |
T |
15: 99,521,228 (GRCm38) |
E75K |
possibly damaging |
Het |
Fbn1 |
T |
A |
2: 125,317,534 (GRCm38) |
D2208V |
probably damaging |
Het |
Fbxo28 |
A |
G |
1: 182,326,385 (GRCm38) |
S129P |
probably damaging |
Het |
Fbxw14 |
T |
A |
9: 109,276,201 (GRCm38) |
I299L |
probably benign |
Het |
Fras1 |
C |
T |
5: 96,647,498 (GRCm38) |
A1050V |
probably benign |
Het |
Fyb |
C |
A |
15: 6,638,811 (GRCm38) |
T495K |
probably damaging |
Het |
Ghdc |
A |
T |
11: 100,769,151 (GRCm38) |
W257R |
probably damaging |
Het |
Gm10719 |
T |
C |
9: 3,018,962 (GRCm38) |
L69S |
probably benign |
Het |
Gm11492 |
A |
G |
11: 87,567,772 (GRCm38) |
N324S |
probably benign |
Het |
Gm12250 |
G |
T |
11: 58,188,384 (GRCm38) |
|
noncoding transcript |
Het |
Gm4846 |
A |
T |
1: 166,483,934 (GRCm38) |
F452Y |
probably damaging |
Het |
Gm8773 |
T |
A |
5: 5,575,387 (GRCm38) |
F28I |
probably benign |
Het |
Gm884 |
T |
C |
11: 103,614,207 (GRCm38) |
T2312A |
possibly damaging |
Het |
Gpbp1 |
T |
C |
13: 111,440,750 (GRCm38) |
D202G |
probably damaging |
Het |
Gpd2 |
C |
A |
2: 57,307,013 (GRCm38) |
Y193* |
probably null |
Het |
Grhl2 |
G |
T |
15: 37,287,249 (GRCm38) |
R229L |
probably benign |
Het |
Gtf2a1 |
A |
G |
12: 91,575,749 (GRCm38) |
F59L |
possibly damaging |
Het |
Heatr1 |
G |
T |
13: 12,410,599 (GRCm38) |
W640L |
probably benign |
Het |
Kalrn |
A |
T |
16: 34,357,415 (GRCm38) |
|
probably null |
Het |
Keap1 |
T |
C |
9: 21,237,286 (GRCm38) |
T142A |
probably damaging |
Het |
Kpna2 |
G |
A |
11: 106,991,235 (GRCm38) |
T255M |
probably damaging |
Het |
Kpna3 |
A |
G |
14: 61,370,389 (GRCm38) |
C456R |
probably damaging |
Het |
Lama1 |
G |
A |
17: 67,767,566 (GRCm38) |
|
probably null |
Het |
Mag |
C |
A |
7: 30,909,156 (GRCm38) |
E178* |
probably null |
Het |
Map3k13 |
A |
G |
16: 21,911,019 (GRCm38) |
I467V |
probably benign |
Het |
Mga |
A |
G |
2: 119,903,301 (GRCm38) |
E210G |
probably damaging |
Het |
Msi2 |
C |
T |
11: 88,366,784 (GRCm38) |
|
probably null |
Het |
Naa16 |
A |
T |
14: 79,345,085 (GRCm38) |
D521E |
probably damaging |
Het |
Nav2 |
C |
T |
7: 49,304,540 (GRCm38) |
|
probably benign |
Het |
Nek5 |
T |
A |
8: 22,079,088 (GRCm38) |
I573L |
probably benign |
Het |
Nek5 |
T |
C |
8: 22,096,799 (GRCm38) |
K332R |
probably benign |
Het |
Ntn1 |
CCTTCTTCT |
CCTTCT |
11: 68,213,026 (GRCm38) |
|
probably benign |
Het |
Olfr111 |
A |
T |
17: 37,530,750 (GRCm38) |
T258S |
possibly damaging |
Het |
Olfr263 |
G |
A |
13: 21,133,344 (GRCm38) |
V190I |
probably benign |
Het |
Olfr773 |
T |
A |
10: 129,186,597 (GRCm38) |
T275S |
probably benign |
Het |
Olfr875 |
T |
A |
9: 37,773,064 (GRCm38) |
M135K |
probably damaging |
Het |
Orai1 |
T |
G |
5: 123,029,250 (GRCm38) |
V162G |
probably damaging |
Het |
P2rx6 |
T |
C |
16: 17,567,444 (GRCm38) |
S134P |
probably damaging |
Het |
Pappa2 |
G |
A |
1: 158,857,136 (GRCm38) |
T811I |
probably null |
Het |
Pcdhga10 |
T |
C |
18: 37,747,160 (GRCm38) |
|
probably benign |
Het |
Pex16 |
C |
T |
2: 92,379,060 (GRCm38) |
R241* |
probably null |
Het |
Plxnb1 |
T |
C |
9: 109,114,836 (GRCm38) |
F1969L |
probably damaging |
Het |
Postn |
A |
G |
3: 54,390,315 (GRCm38) |
|
probably benign |
Het |
Prdm15 |
A |
T |
16: 97,806,077 (GRCm38) |
I752N |
probably damaging |
Het |
Rasgef1c |
A |
T |
11: 49,979,512 (GRCm38) |
K468M |
probably damaging |
Het |
Rbfox1 |
A |
G |
16: 7,277,088 (GRCm38) |
S111G |
probably benign |
Het |
Rbm28 |
T |
C |
6: 29,138,598 (GRCm38) |
D405G |
probably damaging |
Het |
Rell1 |
A |
G |
5: 63,939,667 (GRCm38) |
|
probably benign |
Het |
Rfx3 |
A |
G |
19: 27,830,672 (GRCm38) |
S224P |
probably damaging |
Het |
Scarb2 |
A |
T |
5: 92,454,777 (GRCm38) |
I260K |
probably damaging |
Het |
Slc15a4 |
A |
G |
5: 127,603,837 (GRCm38) |
F72L |
probably damaging |
Het |
Spg7 |
C |
A |
8: 123,090,171 (GRCm38) |
R534S |
probably damaging |
Het |
Stoml2 |
T |
C |
4: 43,029,589 (GRCm38) |
T164A |
probably benign |
Het |
Syt11 |
C |
T |
3: 88,762,283 (GRCm38) |
G101S |
possibly damaging |
Het |
Traj12 |
A |
G |
14: 54,206,556 (GRCm38) |
|
probably benign |
Het |
Traj7 |
A |
T |
14: 54,211,524 (GRCm38) |
|
probably benign |
Het |
Tysnd1 |
C |
T |
10: 61,702,076 (GRCm38) |
T175I |
possibly damaging |
Het |
Usp48 |
T |
G |
4: 137,606,693 (GRCm38) |
Y139* |
probably null |
Het |
Vmn2r72 |
A |
G |
7: 85,751,109 (GRCm38) |
L244P |
probably benign |
Het |
Wasf1 |
C |
A |
10: 40,936,190 (GRCm38) |
P325Q |
unknown |
Het |
Zc3h18 |
T |
A |
8: 122,410,900 (GRCm38) |
|
probably benign |
Het |
Zfp712 |
A |
G |
13: 67,040,841 (GRCm38) |
S541P |
possibly 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 |
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'- GCTTATAAGGACTTGGTATCACAGTTG -3'
(R):5'- TGAGAGCCAAGGCAACACTC -3'
Sequencing Primer
(F):5'- GGACTTGGTATCACAGTTGAATTTAC -3'
(R):5'- CATAATTACCACCCAGTGTTGG -3'
|
Posted On |
2016-04-27 |