Incidental Mutation 'R1367:Nuak1'
ID 156082
Institutional Source Beutler Lab
Gene Symbol Nuak1
Ensembl Gene ENSMUSG00000020032
Gene Name NUAK family, SNF1-like kinase, 1
Synonyms B230104P22Rik
MMRRC Submission 039432-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1367 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 84206769-84276461 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 84228192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020220]
AlphaFold Q641K5
Predicted Effect probably benign
Transcript: ENSMUST00000020220
SMART Domains Protein: ENSMUSP00000020220
Gene: ENSMUSG00000020032

DomainStartEndE-ValueType
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 silent
Transcript: ENSMUST00000129355
SMART Domains Protein: ENSMUSP00000122927
Gene: ENSMUSG00000020032

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 15 156 3.1e-19 PFAM
Pfam:Pkinase 19 158 3.5e-38 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 94.2%
  • 20x: 86.6%
Validation Efficiency 98% (48/49)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T C 16: 14,261,250 (GRCm39) V676A probably damaging Het
Acvr1b T C 15: 101,091,819 (GRCm39) L33P possibly damaging Het
Adamts12 T G 15: 11,256,980 (GRCm39) probably benign Het
Ank1 T A 8: 23,601,819 (GRCm39) probably benign Het
Arhgef10 T A 8: 14,990,225 (GRCm39) D233E probably damaging Het
Cd209e T C 8: 3,899,084 (GRCm39) *209W probably null Het
Cebpz A G 17: 79,230,742 (GRCm39) V825A probably benign Het
Cep170 A G 1: 176,563,290 (GRCm39) F1575L probably damaging Het
Exoc2 A T 13: 31,066,256 (GRCm39) Y473* probably null Het
F3 A G 3: 121,523,023 (GRCm39) T78A probably damaging Het
Fanca G A 8: 124,031,020 (GRCm39) probably benign Het
Gga2 G A 7: 121,598,138 (GRCm39) R319* probably null Het
Gid8 A G 2: 180,355,025 (GRCm39) I10M probably benign Het
Glrb A G 3: 80,769,311 (GRCm39) W139R probably damaging Het
H2-M1 A G 17: 36,982,059 (GRCm39) S181P probably benign Het
Hectd3 G T 4: 116,854,367 (GRCm39) V310L probably null Het
Insyn1 G T 9: 58,406,263 (GRCm39) D58Y probably damaging Het
Kif17 C A 4: 138,005,305 (GRCm39) S290* probably null Het
Kif26b A G 1: 178,744,028 (GRCm39) N1375D probably damaging Het
Lgr4 C G 2: 109,821,480 (GRCm39) P121A probably damaging Het
Ly75 A G 2: 60,124,102 (GRCm39) probably null Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Nek3 T C 8: 22,650,377 (GRCm39) probably benign Het
Nin A T 12: 70,090,703 (GRCm39) L904Q probably damaging Het
Nlrp14 A G 7: 106,782,018 (GRCm39) D405G probably benign Het
Or5h23 T A 16: 58,906,706 (GRCm39) I47F probably benign Het
Plcg2 T A 8: 118,341,977 (GRCm39) W1113R probably damaging Het
Pms2 G A 5: 143,862,731 (GRCm39) V613M probably damaging Het
Prl3b1 G A 13: 27,427,848 (GRCm39) A53T probably benign Het
Pxk T G 14: 8,150,915 (GRCm38) probably null Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rbm28 A T 6: 29,137,639 (GRCm39) I438N probably damaging Het
Rictor T C 15: 6,820,119 (GRCm39) probably benign Het
Slc41a1 A G 1: 131,771,746 (GRCm39) T387A probably benign Het
Slc44a2 T C 9: 21,254,322 (GRCm39) V228A probably benign Het
Slpi A G 2: 164,196,787 (GRCm39) probably benign Het
Tkfc A G 19: 10,570,838 (GRCm39) S481P probably benign Het
Tll2 G A 19: 41,108,667 (GRCm39) R328C probably damaging Het
Tns3 T C 11: 8,398,704 (GRCm39) H1216R probably benign Het
Ugt2b38 A T 5: 87,571,973 (GRCm39) S20T probably benign Het
Usp48 T A 4: 137,366,606 (GRCm39) D921E possibly damaging Het
Usp48 T A 4: 137,371,774 (GRCm39) S967T probably damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Zdhhc23 A G 16: 43,794,513 (GRCm39) S54P probably benign Het
Other mutations in Nuak1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGATGAGAGTCTTTCCCAGAGCCC -3'
(R):5'- AATGCTCTCCTGTCGCTGGTTG -3'

Sequencing Primer
(F):5'- CACCAACCAGCAGAGGGAG -3'
(R):5'- CGTCCTGACAGTGAGAGCAG -3'
Posted On 2014-02-11