Incidental Mutation 'R4846:Nek11'
ID |
372172 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nek11
|
Ensembl Gene |
ENSMUSG00000035032 |
Gene Name |
NIMA (never in mitosis gene a)-related expressed kinase 11 |
Synonyms |
4932416N14Rik |
MMRRC Submission |
042459-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4846 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
105039355-105272723 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 105040362 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 566
(E566D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038611
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038648]
[ENSMUST00000177029]
|
AlphaFold |
Q8C0Q4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038648
AA Change: E566D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038611 Gene: ENSMUSG00000035032 AA Change: E566D
Domain | Start | End | E-Value | Type |
S_TKc
|
30 |
288 |
3.87e-80 |
SMART |
coiled coil region
|
348 |
384 |
N/A |
INTRINSIC |
low complexity region
|
408 |
423 |
N/A |
INTRINSIC |
low complexity region
|
450 |
466 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177029
|
SMART Domains |
Protein: ENSMUSP00000135837 Gene: ENSMUSG00000035032
Domain | Start | End | E-Value | Type |
SCOP:d1h8fa_
|
11 |
80 |
1e-6 |
SMART |
Blast:S_TKc
|
30 |
70 |
1e-11 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192953
|
Meta Mutation Damage Score |
0.1186 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
100% (60/60) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the never in mitosis gene A family of kinases. The encoded protein localizes to the nucleoli, and may function with NEK2A in the S-phase checkpoint. The encoded protein appears to play roles in DNA replication and response to genotoxic stress. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930012K11Rik |
T |
A |
14: 70,393,392 (GRCm39) |
H299L |
probably damaging |
Het |
Abcb4 |
C |
T |
5: 8,985,180 (GRCm39) |
A687V |
probably benign |
Het |
Abtb3 |
A |
G |
10: 85,465,130 (GRCm39) |
T657A |
probably damaging |
Het |
Adam20 |
A |
G |
8: 41,248,048 (GRCm39) |
T53A |
probably benign |
Het |
Afg1l |
G |
A |
10: 42,330,490 (GRCm39) |
T59I |
probably benign |
Het |
AI837181 |
A |
G |
19: 5,476,329 (GRCm39) |
Q164R |
probably benign |
Het |
Anapc15 |
T |
A |
7: 101,546,974 (GRCm39) |
I12N |
probably benign |
Het |
Ankrd55 |
A |
C |
13: 112,499,988 (GRCm39) |
E278D |
probably benign |
Het |
Axin2 |
A |
G |
11: 108,833,125 (GRCm39) |
T437A |
probably benign |
Het |
BC051665 |
T |
C |
13: 60,931,895 (GRCm39) |
D168G |
probably damaging |
Het |
Cd200 |
C |
T |
16: 45,212,664 (GRCm39) |
R261H |
probably benign |
Het |
Clk1 |
G |
A |
1: 58,460,261 (GRCm39) |
S123L |
probably benign |
Het |
Csrnp2 |
A |
T |
15: 100,382,571 (GRCm39) |
D156E |
probably damaging |
Het |
Ctss |
C |
T |
3: 95,452,695 (GRCm39) |
Q159* |
probably null |
Het |
Dennd2b |
C |
A |
7: 109,156,043 (GRCm39) |
E236* |
probably null |
Het |
Dip2a |
A |
G |
10: 76,157,327 (GRCm39) |
S93P |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Ephb6 |
G |
A |
6: 41,593,743 (GRCm39) |
R542Q |
probably benign |
Het |
Fmo3 |
T |
C |
1: 162,781,880 (GRCm39) |
D491G |
possibly damaging |
Het |
Galnt14 |
A |
T |
17: 73,843,888 (GRCm39) |
M140K |
probably benign |
Het |
Ghsr |
T |
C |
3: 27,425,986 (GRCm39) |
V14A |
probably benign |
Het |
Gm17546 |
C |
A |
15: 95,727,843 (GRCm39) |
|
probably benign |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Hc |
A |
G |
2: 34,909,682 (GRCm39) |
V866A |
probably benign |
Het |
Hoxb6 |
G |
A |
11: 96,190,348 (GRCm39) |
G116R |
probably damaging |
Het |
Hykk |
A |
G |
9: 54,827,890 (GRCm39) |
Y43C |
probably damaging |
Het |
Jade2 |
T |
C |
11: 51,711,975 (GRCm39) |
T495A |
probably benign |
Het |
Kansl1 |
A |
T |
11: 104,233,798 (GRCm39) |
V755E |
possibly damaging |
Het |
Lrp2 |
T |
A |
2: 69,309,457 (GRCm39) |
D2814V |
probably damaging |
Het |
Mbd5 |
T |
A |
2: 49,147,009 (GRCm39) |
N406K |
probably damaging |
Het |
Met |
A |
T |
6: 17,491,928 (GRCm39) |
D230V |
probably damaging |
Het |
Mrgprx2 |
A |
T |
7: 48,132,584 (GRCm39) |
V78D |
probably damaging |
Het |
Mrpl20 |
A |
G |
4: 155,892,993 (GRCm39) |
T112A |
possibly damaging |
Het |
Nostrin |
T |
C |
2: 69,005,923 (GRCm39) |
S235P |
probably damaging |
Het |
Npas4 |
C |
A |
19: 5,036,805 (GRCm39) |
S453I |
probably benign |
Het |
Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
Psg18 |
A |
T |
7: 18,084,711 (GRCm39) |
Y128* |
probably null |
Het |
Ptges3l |
A |
T |
11: 101,310,010 (GRCm39) |
|
probably benign |
Het |
Pus1 |
T |
C |
5: 110,927,796 (GRCm39) |
|
probably benign |
Het |
Raf1 |
T |
A |
6: 115,621,544 (GRCm39) |
S12C |
possibly damaging |
Het |
Rps6-ps2 |
T |
G |
8: 89,533,206 (GRCm39) |
|
noncoding transcript |
Het |
Slc5a4b |
A |
G |
10: 75,898,073 (GRCm39) |
L547P |
probably damaging |
Het |
Socs3 |
A |
G |
11: 117,858,654 (GRCm39) |
S135P |
probably benign |
Het |
Spata31d1e |
T |
C |
13: 59,890,047 (GRCm39) |
D591G |
probably benign |
Het |
Stra6l |
G |
A |
4: 45,873,682 (GRCm39) |
V281M |
possibly damaging |
Het |
Suco |
G |
A |
1: 161,661,977 (GRCm39) |
T818I |
possibly damaging |
Het |
Syde1 |
A |
T |
10: 78,424,731 (GRCm39) |
V367D |
probably damaging |
Het |
Tet3 |
A |
T |
6: 83,353,865 (GRCm39) |
L932* |
probably null |
Het |
Trpm7 |
G |
A |
2: 126,655,105 (GRCm39) |
L1278F |
possibly damaging |
Het |
Vmn1r168 |
A |
T |
7: 23,240,490 (GRCm39) |
T116S |
probably damaging |
Het |
Wfdc6b |
A |
G |
2: 164,459,214 (GRCm39) |
Q92R |
possibly damaging |
Het |
|
Other mutations in Nek11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01348:Nek11
|
APN |
9 |
105,270,112 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01369:Nek11
|
APN |
9 |
105,177,259 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01958:Nek11
|
APN |
9 |
105,177,502 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03099:Nek11
|
APN |
9 |
105,164,852 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03256:Nek11
|
APN |
9 |
105,121,613 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03400:Nek11
|
APN |
9 |
105,082,065 (GRCm39) |
missense |
probably benign |
0.01 |
R0051:Nek11
|
UTSW |
9 |
105,095,738 (GRCm39) |
splice site |
probably benign |
|
R0051:Nek11
|
UTSW |
9 |
105,095,738 (GRCm39) |
splice site |
probably benign |
|
R0194:Nek11
|
UTSW |
9 |
105,270,151 (GRCm39) |
missense |
probably benign |
0.05 |
R0942:Nek11
|
UTSW |
9 |
105,172,570 (GRCm39) |
splice site |
probably null |
|
R1226:Nek11
|
UTSW |
9 |
105,270,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R1503:Nek11
|
UTSW |
9 |
105,040,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R1709:Nek11
|
UTSW |
9 |
105,225,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R1958:Nek11
|
UTSW |
9 |
105,170,916 (GRCm39) |
missense |
probably benign |
0.00 |
R2128:Nek11
|
UTSW |
9 |
105,177,560 (GRCm39) |
missense |
probably benign |
0.01 |
R3754:Nek11
|
UTSW |
9 |
105,191,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R4027:Nek11
|
UTSW |
9 |
105,121,589 (GRCm39) |
nonsense |
probably null |
|
R4594:Nek11
|
UTSW |
9 |
105,270,046 (GRCm39) |
critical splice donor site |
probably null |
|
R4650:Nek11
|
UTSW |
9 |
105,225,279 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4724:Nek11
|
UTSW |
9 |
105,270,169 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4903:Nek11
|
UTSW |
9 |
105,191,921 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4908:Nek11
|
UTSW |
9 |
105,175,488 (GRCm39) |
missense |
probably benign |
0.00 |
R4912:Nek11
|
UTSW |
9 |
105,164,857 (GRCm39) |
missense |
probably benign |
0.01 |
R4930:Nek11
|
UTSW |
9 |
105,177,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R5827:Nek11
|
UTSW |
9 |
105,191,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R5860:Nek11
|
UTSW |
9 |
105,270,160 (GRCm39) |
missense |
probably benign |
0.01 |
R6030:Nek11
|
UTSW |
9 |
105,082,087 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6030:Nek11
|
UTSW |
9 |
105,082,087 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6154:Nek11
|
UTSW |
9 |
105,200,368 (GRCm39) |
makesense |
probably null |
|
R6915:Nek11
|
UTSW |
9 |
105,270,256 (GRCm39) |
unclassified |
probably benign |
|
R7197:Nek11
|
UTSW |
9 |
105,121,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R8059:Nek11
|
UTSW |
9 |
105,040,173 (GRCm39) |
makesense |
probably null |
|
R8140:Nek11
|
UTSW |
9 |
105,270,156 (GRCm39) |
missense |
probably damaging |
0.99 |
R8357:Nek11
|
UTSW |
9 |
105,225,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R8457:Nek11
|
UTSW |
9 |
105,225,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R8536:Nek11
|
UTSW |
9 |
105,175,538 (GRCm39) |
missense |
probably benign |
0.04 |
R8752:Nek11
|
UTSW |
9 |
105,225,207 (GRCm39) |
missense |
probably benign |
0.00 |
R8885:Nek11
|
UTSW |
9 |
105,172,571 (GRCm39) |
critical splice donor site |
probably null |
|
R9098:Nek11
|
UTSW |
9 |
105,170,856 (GRCm39) |
missense |
probably benign |
0.32 |
R9616:Nek11
|
UTSW |
9 |
105,082,011 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Nek11
|
UTSW |
9 |
105,170,868 (GRCm39) |
missense |
probably benign |
0.28 |
|
Predicted Primers |
PCR Primer
(F):5'- AAATGAGTGCCCTTGACCGG -3'
(R):5'- GGGTGAGATTCTGCACCTTAG -3'
Sequencing Primer
(F):5'- TGACCGGCTTCTTCTGGGC -3'
(R):5'- GAGATTCTGCACCTTAGGGTCATC -3'
|
Posted On |
2016-03-01 |