Incidental Mutation 'IGL01607:Nuak2'
ID |
278600 |
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: 0.073)
|
Stock # |
IGL01607
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
132243864-132261226 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 132255878 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 184
(V184I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072039
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072177]
[ENSMUST00000082125]
|
AlphaFold |
Q8BZN4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072177
AA Change: V184I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000072039 Gene: ENSMUSG00000009772 AA Change: V184I
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: V176I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080769 Gene: ENSMUSG00000009772 AA Change: V176I
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: ENSMUST00000133246
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
A |
G |
11: 54,243,823 (GRCm39) |
K556E |
possibly damaging |
Het |
Adgre4 |
A |
C |
17: 56,101,748 (GRCm39) |
|
probably benign |
Het |
Ajap1 |
C |
T |
4: 153,516,736 (GRCm39) |
G202S |
probably damaging |
Het |
Catsperb |
G |
T |
12: 101,446,985 (GRCm39) |
|
probably benign |
Het |
Ccdc178 |
T |
A |
18: 22,200,778 (GRCm39) |
D393V |
probably benign |
Het |
Cfap74 |
A |
G |
4: 155,503,443 (GRCm39) |
T95A |
possibly damaging |
Het |
Dis3l2 |
A |
G |
1: 86,673,209 (GRCm39) |
T67A |
probably benign |
Het |
Dnaja3 |
T |
C |
16: 4,511,259 (GRCm39) |
F205L |
probably damaging |
Het |
Dsc1 |
C |
T |
18: 20,222,720 (GRCm39) |
C584Y |
probably damaging |
Het |
Duox2 |
C |
A |
2: 122,122,800 (GRCm39) |
V545L |
probably benign |
Het |
Etaa1 |
A |
G |
11: 17,903,637 (GRCm39) |
L53P |
probably benign |
Het |
Gm14184 |
C |
T |
11: 99,590,490 (GRCm39) |
C4Y |
unknown |
Het |
Inpp4b |
C |
T |
8: 82,737,292 (GRCm39) |
A563V |
probably benign |
Het |
Kcnc3 |
A |
G |
7: 44,240,728 (GRCm39) |
D140G |
probably damaging |
Het |
Ly6a |
A |
T |
15: 74,867,262 (GRCm39) |
M85K |
probably benign |
Het |
Map4k2 |
C |
T |
19: 6,395,623 (GRCm39) |
|
probably null |
Het |
Mttp |
T |
C |
3: 137,810,459 (GRCm39) |
Y652C |
probably damaging |
Het |
Neu1 |
A |
T |
17: 35,153,692 (GRCm39) |
N372I |
probably benign |
Het |
Phf11a |
T |
C |
14: 59,524,950 (GRCm39) |
I85V |
probably damaging |
Het |
Polr2e |
C |
A |
10: 79,875,467 (GRCm39) |
D3Y |
probably damaging |
Het |
Ralb |
A |
G |
1: 119,411,279 (GRCm39) |
V20A |
probably damaging |
Het |
Rln1 |
A |
T |
19: 29,309,260 (GRCm39) |
V173D |
probably benign |
Het |
Stk38l |
T |
A |
6: 146,673,152 (GRCm39) |
C304S |
probably damaging |
Het |
Stk38l |
T |
C |
6: 146,673,725 (GRCm39) |
|
probably benign |
Het |
Tjp1 |
G |
T |
7: 64,985,926 (GRCm39) |
D288E |
possibly damaging |
Het |
Trpm3 |
A |
G |
19: 22,964,491 (GRCm39) |
I1319V |
probably benign |
Het |
Zic2 |
T |
G |
14: 122,716,294 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Nuak2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01660:Nuak2
|
APN |
1 |
132,259,308 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02093:Nuak2
|
APN |
1 |
132,259,850 (GRCm39) |
missense |
probably benign |
|
IGL02731:Nuak2
|
APN |
1 |
132,244,095 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |