Mutagenetix > Incidental Mutation

Incidental Mutation 'R5248:Nuak1'

398675

Institutional Source

Beutler Lab

Gene Symbol

Nuak1

Ensembl Gene

ENSMUSG00000020032

Gene Name

NUAK family, SNF1-like kinase, 1

Synonyms

B230104P22Rik

MMRRC Submission

042819-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5248 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84206769-84276461 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84245542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 101 (I101N)

Ref Sequence

ENSEMBL: ENSMUSP00000020220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020220]

AlphaFold

Q641K5

Predicted Effect

probably damaging
Transcript: ENSMUST00000020220
AA Change: I101N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020220
Gene: ENSMUSG00000020032
AA Change: I101N

Domain	Start	End	E-Value	Type
low complexity region	44	55	N/A	INTRINSIC
S_TKc	56	307	2.3e-105	SMART
low complexity region	475	490	N/A	INTRINSIC
low complexity region	559	589	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted disruption of this gene die perinatally displaying omphalocele with a failure in closure of the secondary body wall. No gross morphological defects are detected in brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,109,437 (GRCm39)	E344D	probably benign	Het
Acoxl	G	A	2: 127,917,855 (GRCm39)		probably null	Het
Adora1	A	T	1: 134,131,224 (GRCm39)	L149Q	possibly damaging	Het
Aebp1	C	A	11: 5,818,501 (GRCm39)	D115E	possibly damaging	Het
Ank3	A	G	10: 69,822,938 (GRCm39)	I1819V	probably benign	Het
Ankrd44	T	C	1: 54,706,539 (GRCm39)	H454R	probably damaging	Het
Ap4e1	C	T	2: 126,906,842 (GRCm39)	A1034V	possibly damaging	Het
B3galt2	T	A	1: 143,522,849 (GRCm39)	F328L	probably benign	Het
Bbip1	G	A	19: 53,919,786 (GRCm39)		probably benign	Het
Brsk1	G	A	7: 4,711,865 (GRCm39)	E572K	possibly damaging	Het
Clca3a1	G	T	3: 144,442,897 (GRCm39)	P716T	possibly damaging	Het
Clpx	T	C	9: 65,228,132 (GRCm39)	V380A	probably damaging	Het
Epha3	T	A	16: 63,418,620 (GRCm39)	Q608H	probably damaging	Het
Gprc6a	G	T	10: 51,491,089 (GRCm39)	P712T	probably damaging	Het
Itpr1	C	A	6: 108,519,023 (GRCm39)	Q2720K	probably damaging	Het
Kdm5b	A	G	1: 134,548,735 (GRCm39)	E1080G	probably benign	Het
Macf1	G	A	4: 123,295,567 (GRCm39)	R3163*	probably null	Het
Map4k5	T	C	12: 69,888,755 (GRCm39)	D292G	probably benign	Het
Mau2	A	T	8: 70,481,373 (GRCm39)	C217S	probably benign	Het
Mtf1	T	C	4: 124,714,220 (GRCm39)	F210L	probably damaging	Het
Mtif2	G	A	11: 29,486,889 (GRCm39)	V300M	probably damaging	Het
Mtmr2	T	C	9: 13,694,905 (GRCm39)		probably benign	Het
Mybpc3	C	A	2: 90,955,573 (GRCm39)		probably null	Het
Ncmap	T	C	4: 135,107,430 (GRCm39)		probably null	Het
Nek9	A	G	12: 85,355,751 (GRCm39)	F672S	probably damaging	Het
Or8s16	T	C	15: 98,211,311 (GRCm39)	N40S	probably damaging	Het
Pcdh7	T	A	5: 58,286,515 (GRCm39)	M1197K	probably damaging	Het
Pcdhb17	A	C	18: 37,618,939 (GRCm39)	Q243P	probably benign	Het
Pcf11	T	G	7: 92,310,699 (GRCm39)	K221Q	probably damaging	Het
Pkhd1	C	T	1: 20,604,769 (GRCm39)	R1182H	probably benign	Het
Ptprz1	C	A	6: 23,001,900 (GRCm39)	P1330Q	probably benign	Het
Rbm33	T	G	5: 28,542,050 (GRCm39)		probably null	Het
Rhobtb1	A	G	10: 69,084,615 (GRCm39)	D2G	probably damaging	Het
Rngtt	T	A	4: 33,325,110 (GRCm39)	C110*	probably null	Het
Setx	T	A	2: 29,038,430 (GRCm39)	N1638K	probably benign	Het
Slc24a3	A	T	2: 145,446,437 (GRCm39)	M282L	probably benign	Het
Slc7a1	A	T	5: 148,270,798 (GRCm39)	V556D	possibly damaging	Het
Sppl2c	A	T	11: 104,077,407 (GRCm39)	D69V	possibly damaging	Het
Srpk3	C	T	X: 72,818,555 (GRCm39)	R82*	probably null	Het
Tas2r120	A	T	6: 132,634,110 (GRCm39)	N64I	probably damaging	Het
Tcf25	G	T	8: 124,100,678 (GRCm39)	A23S	probably damaging	Het
Tigd2	A	T	6: 59,188,138 (GRCm39)	K335I	probably damaging	Het
Tlr6	A	G	5: 65,112,647 (GRCm39)	S87P	probably benign	Het
Tmem135	T	A	7: 88,797,200 (GRCm39)	Y352F	probably damaging	Het
Tob2	T	C	15: 81,735,918 (GRCm39)	Y17C	probably damaging	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Vmn1r179	T	C	7: 23,628,478 (GRCm39)	V223A	probably damaging	Het
Zfp946	T	C	17: 22,673,447 (GRCm39)	V67A	probably benign	Het
Zswim4	G	T	8: 84,946,561 (GRCm39)	N698K	probably benign	Het
Zzz3	A	G	3: 152,133,182 (GRCm39)	Q80R	probably damaging	Het

Other mutations in Nuak1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Nuak1	APN	10	84,210,998 (GRCm39)	missense	probably damaging	1.00
IGL01374:Nuak1	APN	10	84,210,532 (GRCm39)	missense	probably damaging	0.96
IGL02967:Nuak1	APN	10	84,276,085 (GRCm39)	missense	probably damaging	1.00
IGL03207:Nuak1	APN	10	84,275,993 (GRCm39)	missense	possibly damaging	0.84
R0002:Nuak1	UTSW	10	84,211,231 (GRCm39)	missense	probably damaging	1.00
R0277:Nuak1	UTSW	10	84,210,315 (GRCm39)	missense	probably benign	0.02
R0749:Nuak1	UTSW	10	84,210,648 (GRCm39)	missense	probably damaging	1.00
R0906:Nuak1	UTSW	10	84,211,144 (GRCm39)	missense	probably damaging	1.00
R1227:Nuak1	UTSW	10	84,276,173 (GRCm39)	missense	probably benign
R1367:Nuak1	UTSW	10	84,228,192 (GRCm39)	splice site	probably benign
R1778:Nuak1	UTSW	10	84,210,738 (GRCm39)	splice site	probably null
R2151:Nuak1	UTSW	10	84,245,509 (GRCm39)	missense	probably benign	0.00
R2877:Nuak1	UTSW	10	84,211,209 (GRCm39)	missense	possibly damaging	0.79
R3863:Nuak1	UTSW	10	84,213,951 (GRCm39)	splice site	probably null
R4386:Nuak1	UTSW	10	84,229,908 (GRCm39)	missense	probably damaging	1.00
R4849:Nuak1	UTSW	10	84,211,143 (GRCm39)	missense	probably damaging	1.00
R4962:Nuak1	UTSW	10	84,210,979 (GRCm39)	missense	probably damaging	1.00
R5118:Nuak1	UTSW	10	84,210,848 (GRCm39)	missense	probably benign	0.04
R5134:Nuak1	UTSW	10	84,210,214 (GRCm39)	missense	probably benign	0.01
R5590:Nuak1	UTSW	10	84,211,119 (GRCm39)	missense	probably benign
R5719:Nuak1	UTSW	10	84,245,584 (GRCm39)	missense	probably damaging	1.00
R5933:Nuak1	UTSW	10	84,210,666 (GRCm39)	missense	probably damaging	0.99
R7067:Nuak1	UTSW	10	84,276,158 (GRCm39)	missense	possibly damaging	0.59
R7169:Nuak1	UTSW	10	84,210,609 (GRCm39)	missense	probably damaging	1.00
R7342:Nuak1	UTSW	10	84,210,831 (GRCm39)	missense	probably damaging	1.00
R7549:Nuak1	UTSW	10	84,210,403 (GRCm39)	missense	probably benign	0.08
R8351:Nuak1	UTSW	10	84,229,981 (GRCm39)	missense	probably damaging	0.99
R8964:Nuak1	UTSW	10	84,210,734 (GRCm39)	missense	probably benign
R9007:Nuak1	UTSW	10	84,210,492 (GRCm39)	missense	probably damaging	1.00
R9143:Nuak1	UTSW	10	84,213,951 (GRCm39)	splice site	probably null
R9145:Nuak1	UTSW	10	84,210,587 (GRCm39)	missense	probably benign	0.00
R9311:Nuak1	UTSW	10	84,214,090 (GRCm39)	critical splice acceptor site	probably null
R9572:Nuak1	UTSW	10	84,228,179 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATTCAACGTAACCAGATAGG -3'
(R):5'- TGGTTGTCAGTTTGGCCAAC -3'

Sequencing Primer
(F):5'- CCAGATAGGAGATAACGCTTGGC -3'
(R):5'- GTTTGGCCAACAAGCAACATCTG -3'

Posted On

2016-07-06