Incidental Mutation 'IGL03231:Nuak2'
ID413916
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nuak2
Ensembl Gene ENSMUSG00000009772
Gene NameNUAK family, SNF1-like kinase, 2
SynonymsSnark, 1200013B22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.223) question?
Stock #IGL03231
Quality Score
Status
Chromosome1
Chromosomal Location132316126-132333488 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 132328177 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik A G 11: 78,268,702 T526A probably benign Het
9530053A07Rik A G 7: 28,153,722 E1478G possibly damaging Het
Abca9 A C 11: 110,155,268 F277V probably damaging Het
Arel1 T A 12: 84,934,310 T308S probably benign Het
Asic1 T A 15: 99,699,102 H548Q probably benign Het
B3galt1 T C 2: 68,118,603 Y221H probably damaging Het
Brs3 G T X: 57,045,444 C221F probably benign Het
C77080 C T 4: 129,223,681 V385I possibly damaging Het
Capn7 G A 14: 31,355,290 G322R probably damaging Het
Ccdc138 T C 10: 58,573,706 L619P probably damaging Het
Cdh22 C T 2: 165,116,206 V614I probably benign Het
Dnah5 C T 15: 28,311,148 R1758W probably damaging Het
Dr1 T C 5: 108,275,608 V87A probably benign Het
F830045P16Rik A G 2: 129,460,473 S400P probably damaging Het
Fyb2 T A 4: 104,986,263 Y353* probably null Het
Gm28043 A G 17: 29,635,942 D457G probably damaging Het
Gsap T C 5: 21,229,166 V260A probably damaging Het
Kcnt2 A T 1: 140,534,002 probably benign Het
Magee2 A T X: 104,856,338 L236M probably damaging Het
Map4k3 A T 17: 80,597,675 V729E probably damaging Het
Myh13 A G 11: 67,351,991 E910G possibly damaging Het
Nbeal1 G T 1: 60,236,459 A651S probably benign Het
Nup210l A G 3: 90,189,545 T1354A probably damaging Het
Olfr1494 A T 19: 13,749,385 Q93L probably benign Het
Pof1b C T X: 112,645,290 S506N possibly damaging Het
Prrt3 A G 6: 113,497,524 S246P possibly damaging Het
Rps6ka6 T A X: 111,450,321 T43S probably benign Het
Slc19a2 G T 1: 164,260,880 W98L probably damaging Het
Snap29 C T 16: 17,427,100 S195L probably benign Het
Stt3b C T 9: 115,243,994 G815S unknown Het
Tm9sf2 T G 14: 122,141,252 I256R possibly damaging Het
Tpbpb A T 13: 60,902,182 N44K probably damaging Het
Trim13 A G 14: 61,605,545 E337G probably benign Het
Trmt6 A T 2: 132,815,836 D33E probably benign Het
Trpm6 T A 19: 18,819,181 S800R probably benign Het
V1rd19 A G 7: 24,003,903 I265V probably benign Het
Xkrx A G X: 134,150,642 L420P probably damaging Het
Zfp618 T C 4: 63,094,479 Y167H probably damaging Het
Other mutations in Nuak2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01607:Nuak2 APN 1 132328140 missense probably damaging 1.00
IGL01660:Nuak2 APN 1 132331570 missense probably benign 0.12
IGL02093:Nuak2 APN 1 132332112 missense probably benign
IGL02731:Nuak2 APN 1 132316357 missense probably damaging 1.00
R0547:Nuak2 UTSW 1 132332203 missense probably benign 0.09
R1972:Nuak2 UTSW 1 132330602 missense probably damaging 0.98
R1973:Nuak2 UTSW 1 132330602 missense probably damaging 0.98
R2897:Nuak2 UTSW 1 132325053 missense probably damaging 1.00
R3420:Nuak2 UTSW 1 132332080 missense probably benign 0.00
R3421:Nuak2 UTSW 1 132332080 missense probably benign 0.00
R3422:Nuak2 UTSW 1 132332080 missense probably benign 0.00
R3890:Nuak2 UTSW 1 132331485 missense possibly damaging 0.79
R3891:Nuak2 UTSW 1 132331485 missense possibly damaging 0.79
R3892:Nuak2 UTSW 1 132331485 missense possibly damaging 0.79
R4899:Nuak2 UTSW 1 132324986 nonsense probably null
R5068:Nuak2 UTSW 1 132331771 missense probably benign 0.04
R6243:Nuak2 UTSW 1 132332367 missense probably benign 0.01
R6310:Nuak2 UTSW 1 132329961 missense probably damaging 1.00
R6505:Nuak2 UTSW 1 132316394 missense probably damaging 1.00
R6694:Nuak2 UTSW 1 132332310 missense probably damaging 1.00
R6966:Nuak2 UTSW 1 132325032 missense possibly damaging 0.95
Posted On2016-08-02