Incidental Mutation 'R5860:Nek11'
ID |
453851 |
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 |
044072-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5860 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
105039355-105272723 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 105270160 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 21
(Y21H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035181]
[ENSMUST00000038648]
[ENSMUST00000123807]
[ENSMUST00000140851]
[ENSMUST00000156256]
[ENSMUST00000176350]
[ENSMUST00000177029]
[ENSMUST00000177402]
[ENSMUST00000189758]
[ENSMUST00000176940]
|
AlphaFold |
Q8C0Q4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035181
|
SMART Domains |
Protein: ENSMUSP00000035181 Gene: ENSMUSG00000032567
Domain | Start | End | E-Value | Type |
Pfam:XPG_I_2
|
115 |
307 |
1e-18 |
PFAM |
low complexity region
|
476 |
488 |
N/A |
INTRINSIC |
low complexity region
|
621 |
634 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000038648
AA Change: Y21H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000038611 Gene: ENSMUSG00000035032 AA Change: Y21H
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: ENSMUST00000123807
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123807
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140851
AA Change: Y21H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000116864 Gene: ENSMUSG00000035032 AA Change: Y21H
Domain | Start | End | E-Value | Type |
S_TKc
|
30 |
288 |
3.87e-80 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156256
AA Change: Y21H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000116761 Gene: ENSMUSG00000035032 AA Change: Y21H
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
30 |
177 |
8.9e-36 |
PFAM |
Pfam:Pkinase_Tyr
|
30 |
178 |
8.9e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176350
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177029
AA Change: Y21H
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000135837 Gene: ENSMUSG00000035032 AA Change: Y21H
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: ENSMUST00000176597
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177402
|
SMART Domains |
Protein: ENSMUSP00000135318 Gene: ENSMUSG00000032567
Domain | Start | End | E-Value | Type |
low complexity region
|
59 |
71 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189758
|
SMART Domains |
Protein: ENSMUSP00000139854 Gene: ENSMUSG00000032567
Domain | Start | End | E-Value | Type |
low complexity region
|
59 |
71 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176940
|
Meta Mutation Damage Score |
0.0956 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.8%
|
Validation Efficiency |
97% (75/77) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568A12Rik |
A |
G |
1: 34,524,661 (GRCm39) |
|
noncoding transcript |
Het |
A2ml1 |
T |
C |
6: 128,518,024 (GRCm39) |
T1421A |
probably benign |
Het |
Actr8 |
T |
A |
14: 29,708,242 (GRCm39) |
Y150* |
probably null |
Het |
Adamts1 |
A |
G |
16: 85,595,432 (GRCm39) |
C249R |
probably damaging |
Het |
Adgre1 |
T |
A |
17: 57,752,034 (GRCm39) |
I594N |
probably damaging |
Het |
Atf6 |
A |
T |
1: 170,669,344 (GRCm39) |
L119H |
probably damaging |
Het |
Atf6 |
G |
A |
1: 170,669,345 (GRCm39) |
L119F |
possibly damaging |
Het |
B3gat2 |
G |
A |
1: 23,854,400 (GRCm39) |
W33* |
probably null |
Het |
Bach2 |
A |
G |
4: 32,580,268 (GRCm39) |
D831G |
probably damaging |
Het |
Ccnk |
A |
T |
12: 108,153,466 (GRCm39) |
I76F |
probably damaging |
Het |
Cdyl |
A |
C |
13: 36,042,066 (GRCm39) |
K368T |
possibly damaging |
Het |
Chi3l1 |
A |
G |
1: 134,112,909 (GRCm39) |
T114A |
probably benign |
Het |
Cnppd1 |
A |
G |
1: 75,113,131 (GRCm39) |
V379A |
probably benign |
Het |
Col11a2 |
C |
A |
17: 34,283,159 (GRCm39) |
|
probably benign |
Het |
Creb3l1 |
T |
C |
2: 91,854,399 (GRCm39) |
S18G |
probably benign |
Het |
Crybg3 |
A |
C |
16: 59,385,632 (GRCm39) |
D197E |
probably damaging |
Het |
Cryga |
T |
C |
1: 65,142,527 (GRCm39) |
|
probably benign |
Het |
Cthrc1 |
T |
C |
15: 38,950,080 (GRCm39) |
C146R |
probably damaging |
Het |
Cyp2c39 |
A |
T |
19: 39,525,270 (GRCm39) |
D191V |
probably damaging |
Het |
Dchs1 |
C |
T |
7: 105,421,242 (GRCm39) |
A393T |
probably damaging |
Het |
Dhx30 |
G |
A |
9: 109,913,645 (GRCm39) |
T1126I |
probably damaging |
Het |
Dock2 |
C |
T |
11: 34,206,562 (GRCm39) |
G1345R |
probably damaging |
Het |
Dsc1 |
T |
C |
18: 20,228,081 (GRCm39) |
E425G |
probably damaging |
Het |
Dynlt2b |
A |
G |
16: 32,247,614 (GRCm39) |
Y143C |
probably damaging |
Het |
Exosc8 |
C |
T |
3: 54,642,463 (GRCm39) |
|
probably benign |
Het |
Fat1 |
C |
T |
8: 45,504,166 (GRCm39) |
A4553V |
probably benign |
Het |
Flnb |
T |
A |
14: 7,931,135 (GRCm38) |
L2119Q |
probably damaging |
Het |
Fnbp4 |
T |
A |
2: 90,587,826 (GRCm39) |
D401E |
probably benign |
Het |
Glyctk |
T |
C |
9: 106,032,906 (GRCm39) |
E369G |
possibly damaging |
Het |
Gm14149 |
C |
A |
2: 151,066,225 (GRCm39) |
|
noncoding transcript |
Het |
Golga4 |
T |
C |
9: 118,387,174 (GRCm39) |
L1432P |
probably damaging |
Het |
Gtpbp4 |
A |
T |
13: 9,023,196 (GRCm39) |
S623T |
probably benign |
Het |
Insc |
A |
C |
7: 114,390,383 (GRCm39) |
S85R |
probably damaging |
Het |
Lgr4 |
G |
A |
2: 109,821,496 (GRCm39) |
R126H |
probably damaging |
Het |
M1ap |
T |
A |
6: 82,980,795 (GRCm39) |
L227Q |
probably damaging |
Het |
Marchf7 |
T |
C |
2: 60,067,187 (GRCm39) |
I569T |
probably damaging |
Het |
Mbd1 |
C |
A |
18: 74,409,768 (GRCm39) |
C339* |
probably null |
Het |
Moxd2 |
T |
A |
6: 40,857,341 (GRCm39) |
Y473F |
probably damaging |
Het |
Mrgpra6 |
T |
C |
7: 46,839,099 (GRCm39) |
H2R |
probably benign |
Het |
Mtus1 |
T |
G |
8: 41,529,303 (GRCm39) |
L742F |
probably damaging |
Het |
Notch4 |
G |
T |
17: 34,801,392 (GRCm39) |
C1080F |
probably damaging |
Het |
Nsd3 |
C |
A |
8: 26,156,107 (GRCm39) |
P558Q |
probably damaging |
Het |
Oas1e |
A |
T |
5: 120,930,015 (GRCm39) |
S168T |
probably benign |
Het |
Ogfr |
T |
C |
2: 180,234,285 (GRCm39) |
S119P |
probably damaging |
Het |
Or2y15 |
A |
G |
11: 49,350,563 (GRCm39) |
D19G |
probably damaging |
Het |
Or8g20 |
T |
A |
9: 39,395,767 (GRCm39) |
M261L |
probably benign |
Het |
Pde4dip |
A |
G |
3: 97,631,504 (GRCm39) |
I1135T |
possibly damaging |
Het |
Prex1 |
G |
A |
2: 166,486,604 (GRCm39) |
|
probably benign |
Het |
Ptprf |
T |
C |
4: 118,068,486 (GRCm39) |
|
probably benign |
Het |
Rapsn |
T |
C |
2: 90,875,859 (GRCm39) |
V359A |
probably damaging |
Het |
Ric1 |
A |
G |
19: 29,577,245 (GRCm39) |
S1050G |
possibly damaging |
Het |
Rnft2 |
A |
G |
5: 118,366,868 (GRCm39) |
I290T |
possibly damaging |
Het |
Senp7 |
C |
A |
16: 55,975,722 (GRCm39) |
A476E |
possibly damaging |
Het |
Serpinh1 |
G |
A |
7: 98,995,571 (GRCm39) |
S337L |
probably damaging |
Het |
Slc5a12 |
C |
A |
2: 110,427,969 (GRCm39) |
A8D |
probably benign |
Het |
Smg5 |
T |
A |
3: 88,250,214 (GRCm39) |
C109S |
probably damaging |
Het |
Speer4b |
T |
C |
5: 27,705,226 (GRCm39) |
H49R |
possibly damaging |
Het |
Tas2r109 |
T |
C |
6: 132,957,664 (GRCm39) |
I89V |
probably benign |
Het |
Tet1 |
A |
G |
10: 62,648,399 (GRCm39) |
|
probably null |
Het |
Tmed6 |
G |
T |
8: 107,790,786 (GRCm39) |
T87K |
probably damaging |
Het |
Tpgs1 |
G |
A |
10: 79,505,545 (GRCm39) |
G101D |
probably damaging |
Het |
Trim13 |
T |
G |
14: 61,842,188 (GRCm39) |
S68R |
probably damaging |
Het |
Vwf |
A |
G |
6: 125,620,053 (GRCm39) |
N1577S |
|
Het |
Vwf |
G |
T |
6: 125,656,228 (GRCm39) |
|
probably benign |
Het |
Xpr1 |
T |
C |
1: 155,207,868 (GRCm39) |
|
probably benign |
Het |
Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
Zftraf1 |
A |
T |
15: 76,532,391 (GRCm39) |
I239N |
probably damaging |
Het |
Zftraf1 |
T |
C |
15: 76,540,615 (GRCm39) |
Y101C |
probably damaging |
Het |
Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
probably 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 |
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 |
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'- TCCGTGTTCTAAAGCAGCC -3'
(R):5'- TGCAGGTATCATTGCCAAAAG -3'
Sequencing Primer
(F):5'- CTGTGGCTACGCACACATG -3'
(R):5'- GAATCTTGTAGTTGCTTTTAGACACG -3'
|
Posted On |
2017-02-10 |