Mutagenetix > Incidental Mutation

Incidental Mutation 'R2877:Nuak1'

260624

Institutional Source

Beutler Lab

Gene Symbol

Nuak1

Ensembl Gene

ENSMUSG00000020032

Gene Name

NUAK family, SNF1-like kinase, 1

Synonyms

B230104P22Rik

MMRRC Submission

040465-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84206769-84276461 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84211209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 293 (D293G)

Ref Sequence

ENSEMBL: ENSMUSP00000020220 (fasta)

Gene Model

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

AlphaFold

Q641K5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020220
AA Change: D293G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020220
Gene: ENSMUSG00000020032
AA Change: D293G

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

Predicted Effect

unknown
Transcript: ENSMUST00000129355
AA Change: D143G

SMART Domains

Protein: ENSMUSP00000122927
Gene: ENSMUSG00000020032
AA Change: D143G

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	15	156	3.1e-19	PFAM
Pfam:Pkinase	19	158	3.5e-38	PFAM

Meta Mutation Damage Score

0.0980

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

96% (66/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	C	5: 109,886,811 (GRCm39)		probably benign	Het
Abca13	C	T	11: 9,241,889 (GRCm39)	L1251F	possibly damaging	Het
Accsl	A	T	2: 93,689,755 (GRCm39)	M384K	probably damaging	Het
Adss1	A	C	12: 112,600,623 (GRCm39)	K197N	probably damaging	Het
Alg11	A	G	8: 22,555,374 (GRCm39)	N170D	possibly damaging	Het
Ambn	T	C	5: 88,608,559 (GRCm39)		probably benign	Het
Anapc7	T	C	5: 122,566,219 (GRCm39)	Y43H	probably benign	Het
Anxa10	T	A	8: 62,513,373 (GRCm39)	I255F	probably damaging	Het
Atg2b	A	T	12: 105,630,268 (GRCm39)	Y374*	probably null	Het
Axl	T	A	7: 25,465,949 (GRCm39)	M563L	probably damaging	Het
Carmil2	A	G	8: 106,422,055 (GRCm39)	E1108G	probably damaging	Het
Casp1	T	C	9: 5,303,110 (GRCm39)	M188T	probably damaging	Het
Chd3	A	T	11: 69,251,998 (GRCm39)	C87*	probably null	Het
Col6a3	G	A	1: 90,703,321 (GRCm39)	T2475I	unknown	Het
Creb3l4	A	T	3: 90,149,615 (GRCm39)	S83R	probably damaging	Het
Cyp2a4	G	A	7: 26,011,612 (GRCm39)	E278K	possibly damaging	Het
Dync1li2	A	C	8: 105,156,047 (GRCm39)	Y265D	probably damaging	Het
Eif3f	G	A	7: 108,534,019 (GRCm39)		probably null	Het
Eipr1	C	T	12: 28,810,091 (GRCm39)	T22I	possibly damaging	Het
Fbxo48	A	G	11: 16,903,382 (GRCm39)	K3E	possibly damaging	Het
Fbxw13	A	G	9: 109,010,534 (GRCm39)	F368S	probably damaging	Het
Fbxw19	A	T	9: 109,315,038 (GRCm39)	W175R	probably damaging	Het
Fibcd1	G	A	2: 31,728,678 (GRCm39)	P60S	probably benign	Het
Foxa3	A	T	7: 18,748,805 (GRCm39)	M107K	probably benign	Het
Foxj2	G	A	6: 122,819,791 (GRCm39)	D560N	probably damaging	Het
Gfm2	A	G	13: 97,289,757 (GRCm39)	R181G	possibly damaging	Het
Gpr25	C	T	1: 136,188,553 (GRCm39)	G20D	possibly damaging	Het
Grin1	A	G	2: 25,187,641 (GRCm39)	V594A	probably damaging	Het
Itpripl1	A	G	2: 126,983,534 (GRCm39)	V196A	probably benign	Het
Kcns1	A	G	2: 164,006,682 (GRCm39)	I427T	probably damaging	Het
Kiz	T	C	2: 146,731,476 (GRCm39)	V322A	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Muc19	T	A	15: 91,777,200 (GRCm39)		noncoding transcript	Het
Naa16	A	G	14: 79,580,738 (GRCm39)	M592T	probably benign	Het
Naa80	A	T	9: 107,460,367 (GRCm39)	E87D	possibly damaging	Het
Ncapd3	T	A	9: 26,955,783 (GRCm39)		probably null	Het
Nebl	C	A	2: 17,439,740 (GRCm39)	D178Y	probably damaging	Het
Nedd1	T	A	10: 92,549,988 (GRCm39)	N99I	possibly damaging	Het
Or5b123	A	T	19: 13,596,996 (GRCm39)	I157F	probably damaging	Het
Or5m9b	T	C	2: 85,905,675 (GRCm39)	M197T	possibly damaging	Het
Palb2	A	G	7: 121,713,652 (GRCm39)	V877A	probably damaging	Het
Rassf6	C	T	5: 90,754,664 (GRCm39)	V205I	probably damaging	Het
Rbak	A	G	5: 143,159,860 (GRCm39)	Y398H	probably damaging	Het
Rcbtb1	A	G	14: 59,448,041 (GRCm39)		probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Smpdl3a	C	A	10: 57,685,181 (GRCm39)	T317K	probably damaging	Het
Speer4e1	C	T	5: 14,987,130 (GRCm39)	V92M	probably damaging	Het
Syne2	A	G	12: 76,047,605 (GRCm39)	I4009V	probably benign	Het
Tarbp1	G	A	8: 127,154,571 (GRCm39)	L1474F	probably damaging	Het
Tchh	A	G	3: 93,351,535 (GRCm39)	E325G	unknown	Het
Trpc4	T	C	3: 54,198,761 (GRCm39)	S562P	probably damaging	Het
Ttn	T	C	2: 76,567,409 (GRCm39)	D27828G	probably damaging	Het
Ulk4	T	C	9: 121,089,105 (GRCm39)	D258G	probably benign	Het
Vmn1r215	A	G	13: 23,260,731 (GRCm39)	H257R	probably benign	Het
Vmn2r56	A	C	7: 12,444,954 (GRCm39)	M433R	probably benign	Het
Vmn2r76	C	A	7: 85,875,201 (GRCm39)	C592F	probably benign	Het
Zcchc8	C	T	5: 123,838,766 (GRCm39)	V591I	probably benign	Het
Znhit6	G	C	3: 145,282,409 (GRCm39)	G96A	probably benign	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
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
R5248:Nuak1	UTSW	10	84,245,542 (GRCm39)	missense	probably damaging	1.00
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'- AGACCCTTCATCTTGGCTTCAG -3'
(R):5'- AGACTTCCACTTTCTGCTTGA -3'

Sequencing Primer
(F):5'- TTCAGCCTCAGCCTGCAG -3'
(R):5'- GCATGAAGCTGGAACACTCC -3'

Posted On

2015-01-23