Incidental Mutation 'R6694:Nuak2'
ID |
528478 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nuak2
|
Ensembl Gene |
ENSMUSG00000009772 |
Gene Name |
NUAK family, SNF1-like kinase, 2 |
Synonyms |
1200013B22Rik, Snark |
MMRRC Submission |
044812-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R6694 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
132243864-132261226 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 132260048 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 609
(S609A)
|
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: S617A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000072039 Gene: ENSMUSG00000009772 AA Change: S617A
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: S609A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080769 Gene: ENSMUSG00000009772 AA Change: S609A
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
Validation Efficiency |
95% (41/43) |
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 |
Aoc1l2 |
G |
A |
6: 48,907,480 (GRCm39) |
S160N |
probably benign |
Het |
Arap3 |
A |
C |
18: 38,124,590 (GRCm39) |
|
probably null |
Het |
Arhgap10 |
A |
G |
8: 78,137,692 (GRCm39) |
F300L |
probably benign |
Het |
Ccdc116 |
T |
C |
16: 16,960,655 (GRCm39) |
E54G |
probably benign |
Het |
Cd53 |
T |
A |
3: 106,674,702 (GRCm39) |
I122F |
probably benign |
Het |
Ctnnd1 |
T |
C |
2: 84,454,849 (GRCm39) |
|
probably benign |
Het |
Ddx60 |
A |
G |
8: 62,490,104 (GRCm39) |
D1691G |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,150,617 (GRCm39) |
|
probably null |
Het |
Exoc1 |
T |
A |
5: 76,697,399 (GRCm39) |
M392K |
probably damaging |
Het |
Exoc3l |
G |
C |
8: 106,017,122 (GRCm39) |
R622G |
probably benign |
Het |
Grid2 |
C |
G |
6: 63,908,031 (GRCm39) |
R224G |
possibly damaging |
Het |
Kif20a |
A |
G |
18: 34,758,579 (GRCm39) |
E16G |
probably damaging |
Het |
Kit |
T |
C |
5: 75,801,417 (GRCm39) |
V568A |
possibly damaging |
Het |
Lhx4 |
T |
C |
1: 155,580,456 (GRCm39) |
S257G |
probably benign |
Het |
Med18 |
C |
T |
4: 132,187,293 (GRCm39) |
V114I |
probably benign |
Het |
Mrps30 |
C |
T |
13: 118,523,497 (GRCm39) |
V92M |
possibly damaging |
Het |
Mtrr |
C |
T |
13: 68,712,452 (GRCm39) |
V645I |
probably benign |
Het |
Or2y1g |
A |
T |
11: 49,171,379 (GRCm39) |
I135F |
probably benign |
Het |
Plk4 |
T |
C |
3: 40,756,263 (GRCm39) |
V58A |
probably damaging |
Het |
Polq |
T |
A |
16: 36,835,535 (GRCm39) |
F145L |
probably null |
Het |
Rab11fip2 |
T |
C |
19: 59,925,707 (GRCm39) |
K170R |
probably damaging |
Het |
Rapgef3 |
A |
G |
15: 97,657,865 (GRCm39) |
V246A |
probably benign |
Het |
Rc3h2 |
A |
G |
2: 37,290,555 (GRCm39) |
S316P |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
Rsf1 |
GCGGCGGC |
GCGGCGGCGACGGCGGC |
7: 97,229,135 (GRCm39) |
|
probably benign |
Het |
Sae1 |
G |
T |
7: 16,102,461 (GRCm39) |
A171E |
probably damaging |
Het |
Semp2l2b |
T |
C |
10: 21,943,620 (GRCm39) |
E120G |
probably damaging |
Het |
Setd5 |
T |
A |
6: 113,120,669 (GRCm39) |
N959K |
probably benign |
Het |
Siae |
T |
A |
9: 37,528,119 (GRCm39) |
Y31N |
probably damaging |
Het |
Sit1 |
C |
T |
4: 43,483,311 (GRCm39) |
G51D |
probably damaging |
Het |
Slc5a11 |
A |
G |
7: 122,867,012 (GRCm39) |
I436V |
possibly damaging |
Het |
Tcfl5 |
A |
G |
2: 180,264,447 (GRCm39) |
S470P |
probably damaging |
Het |
Timd2 |
A |
T |
11: 46,561,779 (GRCm39) |
C288* |
probably null |
Het |
Timeless |
T |
G |
10: 128,075,868 (GRCm39) |
|
probably null |
Het |
Ubxn8 |
G |
T |
8: 34,111,572 (GRCm39) |
Q274K |
possibly damaging |
Het |
Usp29 |
A |
G |
7: 6,965,276 (GRCm39) |
E373G |
probably benign |
Het |
Zap70 |
A |
G |
1: 36,821,598 (GRCm39) |
Y597C |
probably damaging |
Het |
Zfp523 |
T |
G |
17: 28,419,446 (GRCm39) |
Y195D |
probably damaging |
Het |
Zfp74 |
G |
A |
7: 29,634,559 (GRCm39) |
A383V |
probably damaging |
Het |
Zfp93 |
A |
T |
7: 23,975,338 (GRCm39) |
Q441L |
probably damaging |
Het |
Zfp976 |
A |
T |
7: 42,263,610 (GRCm39) |
Y76N |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTACCCCTAGCACCTTTGG -3'
(R):5'- CGTAGAGCCCTTGATGTACTC -3'
Sequencing Primer
(F):5'- TTGGCTCCCTGGACCAACTG -3'
(R):5'- GTACTCTATTCACTGGAGGAATCCG -3'
|
Posted On |
2018-07-24 |