Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01607:Nuak2'

278600

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) question?

Stock #

IGL01607

Quality Score

Status

Chromosome

Chromosomal Location

132243864-132261226 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 132255878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 184 (V184I)

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: V184I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072039
Gene: ENSMUSG00000009772
AA Change: V184I

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: V176I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080769
Gene: ENSMUSG00000009772
AA Change: V176I

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,243,823 (GRCm39)	K556E	possibly damaging	Het
Adgre4	A	C	17: 56,101,748 (GRCm39)		probably benign	Het
Ajap1	C	T	4: 153,516,736 (GRCm39)	G202S	probably damaging	Het
Catsperb	G	T	12: 101,446,985 (GRCm39)		probably benign	Het
Ccdc178	T	A	18: 22,200,778 (GRCm39)	D393V	probably benign	Het
Cfap74	A	G	4: 155,503,443 (GRCm39)	T95A	possibly damaging	Het
Dis3l2	A	G	1: 86,673,209 (GRCm39)	T67A	probably benign	Het
Dnaja3	T	C	16: 4,511,259 (GRCm39)	F205L	probably damaging	Het
Dsc1	C	T	18: 20,222,720 (GRCm39)	C584Y	probably damaging	Het
Duox2	C	A	2: 122,122,800 (GRCm39)	V545L	probably benign	Het
Etaa1	A	G	11: 17,903,637 (GRCm39)	L53P	probably benign	Het
Gm14184	C	T	11: 99,590,490 (GRCm39)	C4Y	unknown	Het
Inpp4b	C	T	8: 82,737,292 (GRCm39)	A563V	probably benign	Het
Kcnc3	A	G	7: 44,240,728 (GRCm39)	D140G	probably damaging	Het
Ly6a	A	T	15: 74,867,262 (GRCm39)	M85K	probably benign	Het
Map4k2	C	T	19: 6,395,623 (GRCm39)		probably null	Het
Mttp	T	C	3: 137,810,459 (GRCm39)	Y652C	probably damaging	Het
Neu1	A	T	17: 35,153,692 (GRCm39)	N372I	probably benign	Het
Phf11a	T	C	14: 59,524,950 (GRCm39)	I85V	probably damaging	Het
Polr2e	C	A	10: 79,875,467 (GRCm39)	D3Y	probably damaging	Het
Ralb	A	G	1: 119,411,279 (GRCm39)	V20A	probably damaging	Het
Rln1	A	T	19: 29,309,260 (GRCm39)	V173D	probably benign	Het
Stk38l	T	A	6: 146,673,152 (GRCm39)	C304S	probably damaging	Het
Stk38l	T	C	6: 146,673,725 (GRCm39)		probably benign	Het
Tjp1	G	T	7: 64,985,926 (GRCm39)	D288E	possibly damaging	Het
Trpm3	A	G	19: 22,964,491 (GRCm39)	I1319V	probably benign	Het
Zic2	T	G	14: 122,716,294 (GRCm39)		probably benign	Het

Other mutations in Nuak2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2015-04-16