Incidental Mutation 'R0051:Nek11'
ID |
64299 |
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 |
038345-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0051 (G1)
|
Quality Score |
110 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
105039355-105272723 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 105095738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038648]
[ENSMUST00000177029]
|
AlphaFold |
Q8C0Q4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038648
|
SMART Domains |
Protein: ENSMUSP00000038611 Gene: ENSMUSG00000035032
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: ENSMUST00000215670
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.8%
|
Validation Efficiency |
100% (64/64) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
A |
G |
7: 29,278,526 (GRCm39) |
|
noncoding transcript |
Het |
Abr |
T |
A |
11: 76,363,328 (GRCm39) |
Q163L |
probably benign |
Het |
Ankrd11 |
C |
A |
8: 123,616,481 (GRCm39) |
C2457F |
probably damaging |
Het |
Anks3 |
G |
C |
16: 4,765,613 (GRCm39) |
T163S |
probably benign |
Het |
Cacna1d |
G |
A |
14: 29,833,052 (GRCm39) |
P908S |
probably damaging |
Het |
Ccdc146 |
C |
A |
5: 21,521,902 (GRCm39) |
R374L |
possibly damaging |
Het |
Cdc45 |
G |
T |
16: 18,613,524 (GRCm39) |
A348E |
probably damaging |
Het |
Cfap46 |
A |
G |
7: 139,255,951 (GRCm39) |
C300R |
probably damaging |
Het |
Cimap1a |
C |
A |
7: 140,430,134 (GRCm39) |
|
probably benign |
Het |
Coq2 |
T |
C |
5: 100,811,551 (GRCm39) |
N146S |
probably benign |
Het |
Dalrd3 |
T |
C |
9: 108,449,414 (GRCm39) |
V120A |
possibly damaging |
Het |
Dcp2 |
T |
A |
18: 44,538,441 (GRCm39) |
|
probably benign |
Het |
Ddx39a |
A |
G |
8: 84,447,251 (GRCm39) |
K137R |
possibly damaging |
Het |
Diaph3 |
A |
G |
14: 87,274,890 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
G |
T |
7: 130,721,225 (GRCm39) |
R1668L |
possibly damaging |
Het |
Dnah7a |
T |
G |
1: 53,560,245 (GRCm39) |
|
probably benign |
Het |
Dpp7 |
A |
G |
2: 25,246,107 (GRCm39) |
Y49H |
possibly damaging |
Het |
Drd5 |
A |
G |
5: 38,477,957 (GRCm39) |
S317G |
probably benign |
Het |
Ecpas |
A |
G |
4: 58,832,729 (GRCm39) |
L877S |
probably damaging |
Het |
Ecsit |
C |
T |
9: 21,987,584 (GRCm39) |
V152I |
probably benign |
Het |
Eeig1 |
G |
A |
2: 32,448,065 (GRCm39) |
R58Q |
possibly damaging |
Het |
Emc1 |
T |
A |
4: 139,102,474 (GRCm39) |
M923K |
possibly damaging |
Het |
Fcrl6 |
A |
T |
1: 172,426,320 (GRCm39) |
L159Q |
probably benign |
Het |
Frrs1 |
T |
C |
3: 116,678,946 (GRCm39) |
|
probably benign |
Het |
Hspd1 |
A |
G |
1: 55,121,205 (GRCm39) |
|
probably benign |
Het |
Impg2 |
T |
A |
16: 56,078,411 (GRCm39) |
S458T |
probably damaging |
Het |
Klf17 |
T |
C |
4: 117,617,589 (GRCm39) |
Y256C |
probably damaging |
Het |
Lnx2 |
A |
G |
5: 146,966,163 (GRCm39) |
F319L |
probably damaging |
Het |
Mafg |
G |
T |
11: 120,520,430 (GRCm39) |
R57S |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,880,720 (GRCm39) |
W1271R |
probably damaging |
Het |
Mrgprb1 |
A |
G |
7: 48,096,962 (GRCm39) |
S24P |
probably benign |
Het |
Mtrf1l |
T |
C |
10: 5,763,384 (GRCm39) |
E315G |
probably damaging |
Het |
Naip1 |
T |
C |
13: 100,547,509 (GRCm39) |
E1239G |
probably damaging |
Het |
Ncaph2 |
T |
C |
15: 89,253,867 (GRCm39) |
S320P |
probably damaging |
Het |
Nlrp2 |
A |
T |
7: 5,325,333 (GRCm39) |
|
probably benign |
Het |
Rbm26 |
A |
C |
14: 105,389,976 (GRCm39) |
V216G |
possibly damaging |
Het |
Rnf115 |
A |
G |
3: 96,692,338 (GRCm39) |
D178G |
probably damaging |
Het |
Rtel1 |
C |
T |
2: 180,992,449 (GRCm39) |
Q424* |
probably null |
Het |
Rwdd4a |
A |
G |
8: 47,990,400 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,699,420 (GRCm39) |
D890G |
probably damaging |
Het |
Scarb1 |
C |
A |
5: 125,358,164 (GRCm39) |
|
probably null |
Het |
Serpina10 |
A |
G |
12: 103,593,156 (GRCm39) |
|
probably benign |
Het |
Slc12a5 |
T |
A |
2: 164,828,583 (GRCm39) |
W508R |
probably damaging |
Het |
Slc43a2 |
T |
C |
11: 75,453,676 (GRCm39) |
C225R |
probably damaging |
Het |
Slc6a9 |
T |
C |
4: 117,722,056 (GRCm39) |
F440L |
probably damaging |
Het |
Stac3 |
G |
A |
10: 127,344,017 (GRCm39) |
R305H |
probably damaging |
Het |
Stk32b |
A |
G |
5: 37,616,940 (GRCm39) |
|
probably benign |
Het |
Syna |
A |
T |
5: 134,588,397 (GRCm39) |
L184H |
probably damaging |
Het |
Tmprss7 |
T |
C |
16: 45,494,302 (GRCm39) |
N401S |
probably damaging |
Het |
Tut4 |
T |
G |
4: 108,384,201 (GRCm39) |
S1089R |
probably damaging |
Het |
Yeats2 |
T |
A |
16: 20,012,474 (GRCm39) |
Y557* |
probably null |
Het |
Zfp352 |
T |
C |
4: 90,112,522 (GRCm39) |
S221P |
probably damaging |
Het |
Zfp575 |
A |
G |
7: 24,285,512 (GRCm39) |
V43A |
probably benign |
Het |
Zfp775 |
A |
G |
6: 48,597,706 (GRCm39) |
T527A |
probably benign |
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 |
|
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 |
R4846:Nek11
|
UTSW |
9 |
105,040,362 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AATGTACTATGCACTGCCAGGCTG -3'
(R):5'- TGTAGAGCCTTGCACTCCCCAAAC -3'
Sequencing Primer
(F):5'- ATTTACTTCATTCTTCAAGGCTGG -3'
(R):5'- GGGATCTACAGATTGGTACACACAC -3'
|
Posted On |
2013-08-06 |