Mutagenetix > Incidental Mutation

Incidental Mutation 'R6694:Nuak2'

528478

Institutional Source

Beutler Lab

Gene Symbol

Nuak2

Ensembl Gene

ENSMUSG00000009772

Gene Name

NUAK family, SNF1-like kinase, 2

Synonyms

Snark, 1200013B22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R6694 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132316126-132333488 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 132332310 bp (GRCm38)

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
1600015I10Rik	G	A	6: 48,930,546	S160N	probably benign	Het
4930444G20Rik	T	C	10: 22,067,721	E120G	probably damaging	Het
Arap3	A	C	18: 37,991,537		probably null	Het
Arhgap10	A	G	8: 77,411,063	F300L	probably benign	Het
Ccdc116	T	C	16: 17,142,791	E54G	probably benign	Het
Cd53	T	A	3: 106,767,386	I122F	probably benign	Het
Ctnnd1	T	C	2: 84,624,505		probably benign	Het
Ddx60	A	G	8: 62,037,070	D1691G	probably damaging	Het
Dnah11	T	C	12: 118,186,882		probably null	Het
Exoc1	T	A	5: 76,549,552	M392K	probably damaging	Het
Exoc3l	G	C	8: 105,290,490	R622G	probably benign	Het
Grid2	C	G	6: 63,931,047	R224G	possibly damaging	Het
Kif20a	A	G	18: 34,625,526	E16G	probably damaging	Het
Kit	T	C	5: 75,640,757	V568A	possibly damaging	Het
Lhx4	T	C	1: 155,704,710	S257G	probably benign	Het
Med18	C	T	4: 132,459,982	V114I	probably benign	Het
Mrps30	C	T	13: 118,386,961	V92M	possibly damaging	Het
Mtrr	C	T	13: 68,564,333	V645I	probably benign	Het
Olfr1393	A	T	11: 49,280,552	I135F	probably benign	Het
Plk4	T	C	3: 40,801,828	V58A	probably damaging	Het
Polq	T	A	16: 37,015,173	F145L	probably null	Het
Rab11fip2	T	C	19: 59,937,275	K170R	probably damaging	Het
Rapgef3	A	G	15: 97,759,984	V246A	probably benign	Het
Rc3h2	A	G	2: 37,400,543	S316P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Rsf1	GCGGCGGC	GCGGCGGCGACGGCGGC	7: 97,579,928		probably benign	Het
Sae1	G	T	7: 16,368,536	A171E	probably damaging	Het
Setd5	T	A	6: 113,143,708	N959K	probably benign	Het
Siae	T	A	9: 37,616,823	Y31N	probably damaging	Het
Sit1	C	T	4: 43,483,311	G51D	probably damaging	Het
Slc5a11	A	G	7: 123,267,789	I436V	possibly damaging	Het
Tcfl5	A	G	2: 180,622,654	S470P	probably damaging	Het
Timd2	A	T	11: 46,670,952	C288*	probably null	Het
Timeless	T	G	10: 128,239,999		probably null	Het
Ubxn8	G	T	8: 33,621,544	Q274K	possibly damaging	Het
Usp29	A	G	7: 6,962,277	E373G	probably benign	Het
Zap70	A	G	1: 36,782,517	Y597C	probably damaging	Het
Zfp523	T	G	17: 28,200,472	Y195D	probably damaging	Het
Zfp74	G	A	7: 29,935,134	A383V	probably damaging	Het
Zfp93	A	T	7: 24,275,913	Q441L	probably damaging	Het
Zfp976	A	T	7: 42,614,186	Y76N	probably damaging	Het

Other mutations in Nuak2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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
R8927:Nuak2	UTSW	1	132328178	missense	probably damaging	1.00
R8928:Nuak2	UTSW	1	132328178	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