Incidental Mutation 'IGL03231:Nuak2'
| ID |
413916 |
| 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 # |
IGL03231
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
132243864-132261226 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 132255915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 188
(D188V)
|
| 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: D196V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072039
Gene: ENSMUSG00000009772
AA Change: D196V
| 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: D188V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080769
Gene: ENSMUSG00000009772
AA Change: D188V
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
C |
11: 110,046,094 (GRCm39) |
F277V |
probably damaging |
Het |
| Arel1 |
T |
A |
12: 84,981,084 (GRCm39) |
T308S |
probably benign |
Het |
| Asic1 |
T |
A |
15: 99,596,983 (GRCm39) |
H548Q |
probably benign |
Het |
| B3galt1 |
T |
C |
2: 67,948,947 (GRCm39) |
Y221H |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,159,528 (GRCm39) |
T526A |
probably benign |
Het |
| Brs3 |
G |
T |
X: 56,090,804 (GRCm39) |
C221F |
probably benign |
Het |
| Capn7 |
G |
A |
14: 31,077,247 (GRCm39) |
G322R |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,409,528 (GRCm39) |
L619P |
probably damaging |
Het |
| Cdh22 |
C |
T |
2: 164,958,126 (GRCm39) |
V614I |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,311,294 (GRCm39) |
R1758W |
probably damaging |
Het |
| Dr1 |
T |
C |
5: 108,423,474 (GRCm39) |
V87A |
probably benign |
Het |
| F830045P16Rik |
A |
G |
2: 129,302,393 (GRCm39) |
S400P |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,853,147 (GRCm39) |
E1478G |
possibly damaging |
Het |
| Fyb2 |
T |
A |
4: 104,843,460 (GRCm39) |
Y353* |
probably null |
Het |
| Gm28043 |
A |
G |
17: 29,854,916 (GRCm39) |
D457G |
probably damaging |
Het |
| Gsap |
T |
C |
5: 21,434,164 (GRCm39) |
V260A |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,461,740 (GRCm39) |
|
probably benign |
Het |
| Magee2 |
A |
T |
X: 103,899,944 (GRCm39) |
L236M |
probably damaging |
Het |
| Map4k3 |
A |
T |
17: 80,905,104 (GRCm39) |
V729E |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,242,817 (GRCm39) |
E910G |
possibly damaging |
Het |
| Nbeal1 |
G |
T |
1: 60,275,618 (GRCm39) |
A651S |
probably benign |
Het |
| Nhsl3 |
C |
T |
4: 129,117,474 (GRCm39) |
V385I |
possibly damaging |
Het |
| Nup210l |
A |
G |
3: 90,096,852 (GRCm39) |
T1354A |
probably damaging |
Het |
| Or10q1 |
A |
T |
19: 13,726,749 (GRCm39) |
Q93L |
probably benign |
Het |
| Pof1b |
C |
T |
X: 111,554,987 (GRCm39) |
S506N |
possibly damaging |
Het |
| Prrt3 |
A |
G |
6: 113,474,485 (GRCm39) |
S246P |
possibly damaging |
Het |
| Rps6ka6 |
T |
A |
X: 110,360,018 (GRCm39) |
T43S |
probably benign |
Het |
| Slc19a2 |
G |
T |
1: 164,088,449 (GRCm39) |
W98L |
probably damaging |
Het |
| Snap29 |
C |
T |
16: 17,244,964 (GRCm39) |
S195L |
probably benign |
Het |
| Stt3b |
C |
T |
9: 115,073,062 (GRCm39) |
G815S |
unknown |
Het |
| Tm9sf2 |
T |
G |
14: 122,378,664 (GRCm39) |
I256R |
possibly damaging |
Het |
| Tpbpb |
A |
T |
13: 61,049,996 (GRCm39) |
N44K |
probably damaging |
Het |
| Trim13 |
A |
G |
14: 61,842,994 (GRCm39) |
E337G |
probably benign |
Het |
| Trmt6 |
A |
T |
2: 132,657,756 (GRCm39) |
D33E |
probably benign |
Het |
| Trpm6 |
T |
A |
19: 18,796,545 (GRCm39) |
S800R |
probably benign |
Het |
| V1rd19 |
A |
G |
7: 23,703,328 (GRCm39) |
I265V |
probably benign |
Het |
| Xkrx |
A |
G |
X: 133,051,391 (GRCm39) |
L420P |
probably damaging |
Het |
| Zfp618 |
T |
C |
4: 63,012,716 (GRCm39) |
Y167H |
probably damaging |
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 |
|
|
IGL02731:Nuak2
|
APN |
1 |
132,244,095 (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 |
2016-08-02 |
Incidental Mutation