Incidental Mutation 'R8288:Nuak2'
| ID |
638511 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nuak2
|
| Ensembl Gene |
ENSMUSG00000009772 |
| Gene Name |
NUAK family, SNF1-like kinase, 2 |
| Synonyms |
1200013B22Rik, Snark |
| MMRRC Submission |
067710-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R8288 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
132243864-132261226 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 132255579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 178
(C178F)
|
| 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: C178F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072039
Gene: ENSMUSG00000009772
AA Change: C178F
| 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: C170F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080769
Gene: ENSMUSG00000009772
AA Change: C170F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3m2 |
C |
T |
8: 23,283,153 (GRCm39) |
A200T |
probably benign |
Het |
| Arpp19 |
T |
C |
9: 74,944,914 (GRCm39) |
M1T |
probably null |
Het |
| Baiap2 |
T |
A |
11: 119,888,465 (GRCm39) |
V407E |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,446,073 (GRCm39) |
T508A |
probably damaging |
Het |
| Cnnm3 |
C |
A |
1: 36,551,074 (GRCm39) |
A28E |
possibly damaging |
Het |
| Cpb1 |
A |
T |
3: 20,319,531 (GRCm39) |
C184* |
probably null |
Het |
| Ddb1 |
T |
C |
19: 10,585,712 (GRCm39) |
V142A |
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,620,762 (GRCm39) |
V498A |
probably damaging |
Het |
| Dmgdh |
T |
C |
13: 93,845,332 (GRCm39) |
Y442H |
probably damaging |
Het |
| Dync2i1 |
A |
G |
12: 116,177,345 (GRCm39) |
F811S |
probably damaging |
Het |
| Eef2k |
T |
A |
7: 120,502,604 (GRCm39) |
M722K |
probably damaging |
Het |
| Erbb4 |
A |
G |
1: 68,337,509 (GRCm39) |
F603S |
probably damaging |
Het |
| Filip1l |
C |
T |
16: 57,390,917 (GRCm39) |
R502C |
probably damaging |
Het |
| Gbp9 |
C |
T |
5: 105,253,599 (GRCm39) |
V39M |
probably damaging |
Het |
| Gm17079 |
T |
C |
14: 51,931,815 (GRCm39) |
Y98C |
|
Het |
| Gstz1 |
A |
G |
12: 87,194,604 (GRCm39) |
M1V |
probably null |
Het |
| Hsd17b13 |
T |
G |
5: 104,111,701 (GRCm39) |
I281L |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,233,661 (GRCm39) |
E1833G |
probably damaging |
Het |
| Irs1 |
G |
A |
1: 82,265,682 (GRCm39) |
Q845* |
probably null |
Het |
| Kctd11 |
C |
T |
11: 69,770,883 (GRCm39) |
G52R |
probably damaging |
Het |
| Kit |
T |
C |
5: 75,815,149 (GRCm39) |
S962P |
probably damaging |
Het |
| Lrrn1 |
C |
T |
6: 107,543,955 (GRCm39) |
|
probably benign |
Het |
| Mastl |
T |
C |
2: 23,023,371 (GRCm39) |
K451E |
probably damaging |
Het |
| Mptx2 |
A |
G |
1: 173,102,356 (GRCm39) |
V111A |
probably benign |
Het |
| Pah |
G |
A |
10: 87,374,047 (GRCm39) |
R71H |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,762,885 (GRCm39) |
T501K |
|
Het |
| Pla2g4e |
C |
T |
2: 120,018,990 (GRCm39) |
|
probably null |
Het |
| Polq |
A |
G |
16: 36,848,272 (GRCm39) |
E293G |
probably damaging |
Het |
| Rptor |
G |
A |
11: 119,748,763 (GRCm39) |
E782K |
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,506,318 (GRCm39) |
R1524W |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,203,237 (GRCm39) |
S46P |
probably benign |
Het |
| Srcap |
T |
A |
7: 127,130,528 (GRCm39) |
I664N |
probably damaging |
Het |
| Stk24 |
A |
C |
14: 121,530,841 (GRCm39) |
F372V |
possibly damaging |
Het |
| Szt2 |
T |
C |
4: 118,246,973 (GRCm39) |
S881G |
probably damaging |
Het |
| Trim40 |
T |
C |
17: 37,194,210 (GRCm39) |
D161G |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,860,643 (GRCm39) |
H234R |
possibly damaging |
Het |
| Trpc1 |
T |
C |
9: 95,603,434 (GRCm39) |
K366R |
probably damaging |
Het |
| Ugt2b35 |
T |
C |
5: 87,149,316 (GRCm39) |
L189P |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,512,509 (GRCm39) |
S140G |
probably benign |
Het |
| Zfp446 |
A |
G |
7: 12,711,885 (GRCm39) |
E36G |
probably benign |
Het |
| Zfp738 |
T |
A |
13: 67,818,908 (GRCm39) |
H361L |
possibly 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTATGTCCTGAGGTGGG -3'
(R):5'- TCTGGGATACAAATTCACAGGC -3'
Sequencing Primer
(F):5'- AGTGTGTTCTCCAGGAGGCC -3'
(R):5'- CACAGGCAAAGTTTAAGGCCTTTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation