Incidental Mutation 'IGL01660:Nuak2'
ID103147
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: 0.092) question?
Stock #IGL01660
Quality Score
Status
Chromosome1
Chromosomal Location132316126-132333488 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 132331570 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 362 (V362A)
Ref Sequence ENSEMBL: ENSMUSP00000080769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072177] [ENSMUST00000082125]
Predicted Effect probably benign
Transcript: ENSMUST00000072177
AA Change: V370A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072039
Gene: ENSMUSG00000009772
AA Change: V370A

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 benign
Transcript: ENSMUST00000082125
AA Change: V362A

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000080769
Gene: ENSMUSG00000009772
AA Change: V362A

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
9130011E15Rik A T 19: 45,940,476 L393H probably damaging Het
Acta2 A G 19: 34,251,791 I66T probably damaging Het
Actl11 T C 9: 107,929,048 V190A probably benign Het
Ankub1 T A 3: 57,690,396 Y51F possibly damaging Het
Ccdc63 G A 5: 122,110,964 S434L possibly damaging Het
Cdan1 T A 2: 120,725,653 I711F possibly damaging Het
Cep170b C A 12: 112,744,160 N1474K probably damaging Het
Cyp2c40 A G 19: 39,786,810 S333P probably damaging Het
Dars A G 1: 128,415,344 probably benign Het
Dock3 T A 9: 107,032,364 probably benign Het
Dsp A G 13: 38,176,495 I359V possibly damaging Het
Fut8 T G 12: 77,450,258 L414* probably null Het
Gja1 A G 10: 56,388,448 Y301C probably damaging Het
Glipr1l1 T C 10: 112,072,279 S161P probably damaging Het
Gpat4 A T 8: 23,175,338 probably null Het
Grhl1 T A 12: 24,608,578 probably null Het
Hectd3 T C 4: 116,996,372 V181A possibly damaging Het
Htr2a T A 14: 74,705,754 I258N probably damaging Het
Hyou1 T A 9: 44,381,117 D83E possibly damaging Het
Myh10 T A 11: 68,785,889 L862Q probably benign Het
Nkx2-2 T C 2: 147,185,913 S36G probably benign Het
Nsun2 T A 13: 69,623,249 V326E probably benign Het
Nyap2 G A 1: 81,191,927 C133Y probably damaging Het
Oas2 T C 5: 120,741,223 T351A probably benign Het
Olfr1025-ps1 T C 2: 85,918,564 I213T probably benign Het
Olfr279 C T 15: 98,498,195 T241I probably damaging Het
Pde4d A T 13: 109,938,072 I404F probably damaging Het
Pga5 A G 19: 10,675,092 S95P probably damaging Het
Pitpnm2 A T 5: 124,123,194 D947E probably damaging Het
Pla2g10 C T 16: 13,728,086 R28H probably damaging Het
Prlr A G 15: 10,317,590 D84G probably damaging Het
Rbm15b C T 9: 106,885,709 G420D probably damaging Het
Tbcd A G 11: 121,605,327 T1063A probably benign Het
Tmc2 C T 2: 130,260,224 Q770* probably null Het
Tpo T C 12: 30,119,400 probably benign Het
Vim A G 2: 13,574,813 N128D probably damaging Het
Vmn1r21 A T 6: 57,844,237 I74N probably damaging Het
Vmn2r52 A C 7: 10,159,180 I677M probably damaging Het
Other mutations in Nuak2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01607:Nuak2 APN 1 132328140 missense probably damaging 1.00
IGL02093:Nuak2 APN 1 132332112 missense probably benign
IGL02731:Nuak2 APN 1 132316357 missense probably damaging 1.00
IGL03231:Nuak2 APN 1 132328177 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
R7569:Nuak2 UTSW 1 132316281 missense possibly damaging 0.85
R7708:Nuak2 UTSW 1 132325032 missense possibly damaging 0.95
R7879:Nuak2 UTSW 1 132331957 missense probably benign
R8288:Nuak2 UTSW 1 132327841 missense probably damaging 1.00
Posted On2014-01-21