Incidental Mutation 'IGL02731:Nuak2'
ID |
305462 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nuak2
|
Ensembl Gene |
ENSMUSG00000009772 |
Gene Name |
NUAK family, SNF1-like kinase, 2 |
Synonyms |
1200013B22Rik, Snark |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
IGL02731
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
132243864-132261226 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 132244095 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 43
(A43E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080769
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072177]
[ENSMUST00000082125]
|
AlphaFold |
Q8BZN4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072177
AA Change: A43E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072039 Gene: ENSMUSG00000009772 AA Change: A43E
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
28 |
N/A |
INTRINSIC |
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
S_TKc
|
57 |
315 |
5.53e-99 |
SMART |
low complexity region
|
471 |
485 |
N/A |
INTRINSIC |
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000082125
AA Change: A43E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080769 Gene: ENSMUSG00000009772 AA Change: A43E
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
28 |
N/A |
INTRINSIC |
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
S_TKc
|
57 |
307 |
6.1e-106 |
SMART |
low complexity region
|
463 |
477 |
N/A |
INTRINSIC |
low complexity region
|
535 |
549 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128661
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Most homozygous null mice are exencephalic and die at E16.5 while survivors show a higher number of azoxymethane (AOM)-induced aberrant crypt foci (ACF) in colon. Heterozygotes show increased susceptibility to AOM-induced ACF formation and colon tumors, mature-onset obesity and metabolic disorders. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap10 |
A |
T |
11: 61,784,302 (GRCm39) |
D515E |
possibly damaging |
Het |
Ankrd13b |
A |
T |
11: 77,367,045 (GRCm39) |
S9R |
probably damaging |
Het |
Ano9 |
G |
A |
7: 140,687,117 (GRCm39) |
A374V |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cep78 |
T |
A |
19: 15,933,670 (GRCm39) |
H636L |
probably benign |
Het |
Chd2 |
A |
G |
7: 73,143,204 (GRCm39) |
V563A |
probably damaging |
Het |
Cndp1 |
G |
T |
18: 84,650,083 (GRCm39) |
D203E |
probably damaging |
Het |
Col16a1 |
G |
A |
4: 129,947,323 (GRCm39) |
|
probably benign |
Het |
Copa |
T |
C |
1: 171,929,785 (GRCm39) |
V284A |
possibly damaging |
Het |
Dlec1 |
A |
G |
9: 118,976,188 (GRCm39) |
T1656A |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,369,434 (GRCm39) |
I89T |
probably damaging |
Het |
Eif2ak4 |
T |
C |
2: 118,219,295 (GRCm39) |
S36P |
probably benign |
Het |
Ep300 |
A |
T |
15: 81,532,615 (GRCm39) |
I1618F |
unknown |
Het |
Fan1 |
G |
A |
7: 64,022,741 (GRCm39) |
L171F |
possibly damaging |
Het |
Fancm |
A |
G |
12: 65,135,079 (GRCm39) |
T291A |
probably benign |
Het |
Gm14325 |
T |
C |
2: 177,474,779 (GRCm39) |
K101R |
probably damaging |
Het |
Hmx3 |
A |
T |
7: 131,145,692 (GRCm39) |
|
probably null |
Het |
Htt |
G |
T |
5: 34,961,137 (GRCm39) |
V255L |
probably benign |
Het |
L3mbtl3 |
C |
T |
10: 26,220,074 (GRCm39) |
|
probably null |
Het |
Lmbr1l |
A |
G |
15: 98,815,777 (GRCm39) |
L9P |
probably damaging |
Het |
Lyzl6 |
A |
T |
11: 103,525,903 (GRCm39) |
Y72* |
probably null |
Het |
Mib1 |
A |
G |
18: 10,800,115 (GRCm39) |
E818G |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,050,715 (GRCm39) |
T6405A |
probably damaging |
Het |
Npas3 |
A |
G |
12: 54,114,578 (GRCm39) |
D482G |
probably benign |
Het |
Or10ag2 |
G |
A |
2: 87,249,051 (GRCm39) |
V220I |
probably benign |
Het |
Or4a70 |
T |
C |
2: 89,323,801 (GRCm39) |
Y285C |
probably damaging |
Het |
Or4f4b |
A |
T |
2: 111,313,873 (GRCm39) |
I33L |
probably benign |
Het |
Or5an1 |
T |
C |
19: 12,261,206 (GRCm39) |
S265P |
probably damaging |
Het |
Pde11a |
C |
A |
2: 75,821,583 (GRCm39) |
A899S |
probably benign |
Het |
Ppfibp2 |
A |
T |
7: 107,345,629 (GRCm39) |
I884F |
possibly damaging |
Het |
Pus7l |
A |
G |
15: 94,421,345 (GRCm39) |
V655A |
probably benign |
Het |
Rad51ap2 |
A |
G |
12: 11,506,897 (GRCm39) |
D273G |
probably damaging |
Het |
Rc3h2 |
T |
C |
2: 37,272,823 (GRCm39) |
D751G |
probably benign |
Het |
Sdk1 |
C |
T |
5: 142,158,299 (GRCm39) |
A1863V |
probably damaging |
Het |
Spns3 |
T |
C |
11: 72,420,403 (GRCm39) |
Y361C |
probably damaging |
Het |
Srp72 |
T |
A |
5: 77,142,062 (GRCm39) |
I372N |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tcf20 |
A |
G |
15: 82,737,438 (GRCm39) |
S1338P |
probably benign |
Het |
Tcte1 |
G |
A |
17: 45,850,812 (GRCm39) |
V363I |
probably benign |
Het |
Vmn1r42 |
T |
C |
6: 89,822,407 (GRCm39) |
K54R |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,917,274 (GRCm39) |
N3706S |
probably benign |
Het |
Vwde |
T |
C |
6: 13,192,613 (GRCm39) |
Y430C |
probably damaging |
Het |
Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
Zfp959 |
G |
A |
17: 56,202,956 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Nuak2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01607:Nuak2
|
APN |
1 |
132,255,878 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01660:Nuak2
|
APN |
1 |
132,259,308 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02093:Nuak2
|
APN |
1 |
132,259,850 (GRCm39) |
missense |
probably benign |
|
IGL03231:Nuak2
|
APN |
1 |
132,255,915 (GRCm39) |
missense |
probably damaging |
1.00 |
R0547:Nuak2
|
UTSW |
1 |
132,259,941 (GRCm39) |
missense |
probably benign |
0.09 |
R1972:Nuak2
|
UTSW |
1 |
132,258,340 (GRCm39) |
missense |
probably damaging |
0.98 |
R1973:Nuak2
|
UTSW |
1 |
132,258,340 (GRCm39) |
missense |
probably damaging |
0.98 |
R2897:Nuak2
|
UTSW |
1 |
132,252,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R3420:Nuak2
|
UTSW |
1 |
132,259,818 (GRCm39) |
missense |
probably benign |
0.00 |
R3421:Nuak2
|
UTSW |
1 |
132,259,818 (GRCm39) |
missense |
probably benign |
0.00 |
R3422:Nuak2
|
UTSW |
1 |
132,259,818 (GRCm39) |
missense |
probably benign |
0.00 |
R3890:Nuak2
|
UTSW |
1 |
132,259,223 (GRCm39) |
missense |
possibly damaging |
0.79 |
R3891:Nuak2
|
UTSW |
1 |
132,259,223 (GRCm39) |
missense |
possibly damaging |
0.79 |
R3892:Nuak2
|
UTSW |
1 |
132,259,223 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4899:Nuak2
|
UTSW |
1 |
132,252,724 (GRCm39) |
nonsense |
probably null |
|
R5068:Nuak2
|
UTSW |
1 |
132,259,509 (GRCm39) |
missense |
probably benign |
0.04 |
R6243:Nuak2
|
UTSW |
1 |
132,260,105 (GRCm39) |
missense |
probably benign |
0.01 |
R6310:Nuak2
|
UTSW |
1 |
132,257,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R6505:Nuak2
|
UTSW |
1 |
132,244,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R6694:Nuak2
|
UTSW |
1 |
132,260,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R6966:Nuak2
|
UTSW |
1 |
132,252,770 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7569:Nuak2
|
UTSW |
1 |
132,244,019 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7708:Nuak2
|
UTSW |
1 |
132,252,770 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7879:Nuak2
|
UTSW |
1 |
132,259,695 (GRCm39) |
missense |
probably benign |
|
R8288:Nuak2
|
UTSW |
1 |
132,255,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R8927:Nuak2
|
UTSW |
1 |
132,255,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R8928:Nuak2
|
UTSW |
1 |
132,255,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |