Incidental Mutation 'R4890:Nek10'
| ID |
377282 |
| 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 |
042495-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4890 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
7457704-7666183 bp(-) (GRCm39) |
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
| Validation Efficiency |
99% (81/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
T |
C |
1: 130,668,725 (GRCm39) |
|
probably benign |
Het |
| Adcy4 |
C |
T |
14: 56,016,486 (GRCm39) |
D322N |
probably damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,260,908 (GRCm39) |
N916S |
probably damaging |
Het |
| Aox1 |
T |
C |
1: 58,373,862 (GRCm39) |
V841A |
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,756,383 (GRCm39) |
M983K |
probably damaging |
Het |
| C2cd2l |
A |
G |
9: 44,222,430 (GRCm39) |
F682L |
probably damaging |
Het |
| Ccsap |
T |
G |
8: 124,572,160 (GRCm39) |
E114A |
possibly damaging |
Het |
| Cept1 |
T |
A |
3: 106,413,123 (GRCm39) |
T201S |
probably damaging |
Het |
| Cfap221 |
T |
C |
1: 119,883,476 (GRCm39) |
M232V |
probably benign |
Het |
| Chsy1 |
A |
G |
7: 65,759,974 (GRCm39) |
R106G |
probably benign |
Het |
| Cit |
C |
T |
5: 116,126,182 (GRCm39) |
|
probably benign |
Het |
| Cldn7 |
G |
A |
11: 69,857,918 (GRCm39) |
V42I |
probably benign |
Het |
| Cnnm4 |
T |
A |
1: 36,511,345 (GRCm39) |
V191E |
probably benign |
Het |
| Cntf |
A |
T |
19: 12,741,326 (GRCm39) |
V178D |
possibly damaging |
Het |
| Ctsz |
C |
A |
2: 174,270,393 (GRCm39) |
R263L |
probably damaging |
Het |
| Dclk1 |
T |
C |
3: 55,429,353 (GRCm39) |
M407T |
probably benign |
Het |
| Dennd1a |
A |
T |
2: 38,066,238 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,306,164 (GRCm39) |
I368V |
possibly damaging |
Het |
| Gak |
A |
T |
5: 108,728,742 (GRCm39) |
|
probably benign |
Het |
| Hepacam2 |
A |
T |
6: 3,487,231 (GRCm39) |
V42D |
probably damaging |
Het |
| Il1rl2 |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
1: 40,366,470 (GRCm39) |
|
probably benign |
Het |
| Insr |
T |
A |
8: 3,248,234 (GRCm39) |
Q437L |
probably benign |
Het |
| Itga8 |
G |
A |
2: 12,198,102 (GRCm39) |
|
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,233,868 (GRCm39) |
C732S |
probably benign |
Het |
| Kdsr |
T |
C |
1: 106,680,964 (GRCm39) |
K78R |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,414,868 (GRCm39) |
S785P |
possibly damaging |
Het |
| Lbr |
C |
A |
1: 181,645,133 (GRCm39) |
L506F |
probably benign |
Het |
| Macf1 |
C |
A |
4: 123,342,031 (GRCm39) |
C2720F |
probably damaging |
Het |
| Mapt |
G |
A |
11: 104,218,975 (GRCm39) |
D738N |
probably damaging |
Het |
| Mroh9 |
T |
C |
1: 162,854,093 (GRCm39) |
Y769C |
probably damaging |
Het |
| Mylk2 |
A |
G |
2: 152,762,274 (GRCm39) |
N515S |
possibly damaging |
Het |
| Myorg |
G |
A |
4: 41,498,877 (GRCm39) |
T251M |
probably benign |
Het |
| Nrxn2 |
A |
T |
19: 6,498,308 (GRCm39) |
S258C |
possibly damaging |
Het |
| Nudt16l2 |
A |
T |
9: 105,021,786 (GRCm39) |
S87T |
possibly damaging |
Het |
| Or52e15 |
G |
A |
7: 104,645,311 (GRCm39) |
H267Y |
probably benign |
Het |
| Or5m12 |
C |
T |
2: 85,735,092 (GRCm39) |
C102Y |
possibly damaging |
Het |
| Or6c1b |
C |
T |
10: 129,272,948 (GRCm39) |
T89I |
probably benign |
Het |
| Or6z5 |
T |
A |
7: 6,477,848 (GRCm39) |
C246* |
probably null |
Het |
| Or8c15 |
G |
T |
9: 38,120,586 (GRCm39) |
C79F |
probably benign |
Het |
| Osgin2 |
G |
A |
4: 16,013,739 (GRCm39) |
|
probably benign |
Het |
| Otud3 |
G |
A |
4: 138,641,060 (GRCm39) |
R27W |
probably damaging |
Het |
| Pcare |
C |
T |
17: 72,059,306 (GRCm39) |
V124I |
possibly damaging |
Het |
| Pcdhga12 |
T |
A |
18: 37,901,290 (GRCm39) |
F707L |
possibly damaging |
Het |
| Pik3r1 |
T |
C |
13: 101,894,118 (GRCm39) |
E17G |
probably damaging |
Het |
| Pramel19 |
A |
G |
4: 101,798,788 (GRCm39) |
E253G |
probably damaging |
Het |
| Prickle4 |
AAGAGAGAGAGAGAGA |
AAGAGAGAGAGAGA |
17: 48,000,806 (GRCm39) |
|
probably benign |
Het |
| Prokr1 |
G |
A |
6: 87,565,678 (GRCm39) |
R56W |
probably benign |
Het |
| Ptprz1 |
G |
A |
6: 23,024,957 (GRCm39) |
C1731Y |
probably damaging |
Het |
| Rbm15b |
A |
T |
9: 106,763,028 (GRCm39) |
F380Y |
possibly damaging |
Het |
| Rfc5 |
G |
A |
5: 117,524,885 (GRCm39) |
L56F |
probably damaging |
Het |
| Rhpn2 |
A |
T |
7: 35,090,228 (GRCm39) |
M617L |
probably benign |
Het |
| Rusc1 |
T |
C |
3: 88,995,577 (GRCm39) |
|
probably null |
Het |
| Sec23ip |
A |
G |
7: 128,354,634 (GRCm39) |
N297D |
probably damaging |
Het |
| Sema3c |
A |
T |
5: 17,880,157 (GRCm39) |
H259L |
probably benign |
Het |
| Sgsm1 |
G |
A |
5: 113,428,328 (GRCm39) |
|
probably benign |
Het |
| Shisal2a |
A |
G |
4: 108,224,998 (GRCm39) |
V188A |
probably benign |
Het |
| Sipa1l2 |
T |
A |
8: 126,218,606 (GRCm39) |
S244C |
probably damaging |
Het |
| Slc39a5 |
T |
C |
10: 128,234,316 (GRCm39) |
I196V |
probably benign |
Het |
| Smim22 |
G |
A |
16: 4,825,722 (GRCm39) |
A36T |
probably damaging |
Het |
| Spag6 |
A |
G |
2: 18,747,588 (GRCm39) |
I408V |
probably benign |
Het |
| Sult2a5 |
A |
G |
7: 13,359,311 (GRCm39) |
I96V |
probably benign |
Het |
| Tmcc2 |
C |
A |
1: 132,308,517 (GRCm39) |
A126S |
probably benign |
Het |
| Tsc2 |
A |
T |
17: 24,819,009 (GRCm39) |
S1276T |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,788,103 (GRCm39) |
S843G |
probably benign |
Het |
| Tubd1 |
G |
C |
11: 86,443,621 (GRCm39) |
V110L |
possibly damaging |
Het |
| Ugt1a2 |
T |
A |
1: 88,128,534 (GRCm39) |
V59D |
probably damaging |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,697,024 (GRCm39) |
R687G |
probably damaging |
Het |
| Vsig8 |
T |
A |
1: 172,389,142 (GRCm39) |
H131Q |
probably benign |
Het |
| Zbtb42 |
C |
A |
12: 112,646,861 (GRCm39) |
Y345* |
probably null |
Het |
| Zfp612 |
T |
A |
8: 110,816,576 (GRCm39) |
C594* |
probably null |
Het |
| Zfp940 |
A |
G |
7: 29,544,824 (GRCm39) |
V361A |
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 |
|
|
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'- GCTTATAAGGACTTGGTATCACAGTTG -3'
(R):5'- TGAGAGCCAAGGCAACACTC -3'
Sequencing Primer
(F):5'- GGACTTGGTATCACAGTTGAATTTAC -3'
(R):5'- CATAATTACCACCCAGTGTTGG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation