Incidental Mutation 'R1433:Chuk'
ID 159351
Institutional Source Beutler Lab
Gene Symbol Chuk
Ensembl Gene ENSMUSG00000025199
Gene Name conserved helix-loop-helix ubiquitous kinase
Synonyms IKK1, IKK alpha, IKK[a], IKKalpha, IKK-1, IKK-alpha, Chuk1, IkappaB kinase alpha, IKK 1
MMRRC Submission 039488-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1433 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 44061774-44095919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44067397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 586 (M586K)
Ref Sequence ENSEMBL: ENSMUSP00000113809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026217] [ENSMUST00000119591]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000026217
AA Change: M586K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199
AA Change: M586K

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:Pkinase_Tyr 15 254 3.5e-39 PFAM
Pfam:Pkinase 15 298 8.3e-55 PFAM
Blast:PHB 589 659 1e-38 BLAST
IKKbetaNEMObind 706 743 1.64e-15 SMART
Predicted Effect probably null
Transcript: ENSMUST00000119591
AA Change: M586K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199
AA Change: M586K

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:Pkinase_Tyr 15 253 9.1e-38 PFAM
Pfam:Pkinase 15 298 8.5e-54 PFAM
Blast:PHB 589 659 8e-39 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134495
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144286
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149091
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 87.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die neonataly and exhibit thickened, taut, adhesive skin that prevents appendages from protruding from the trunk, absence of whiskers, skeletal abnormalities, and closed esophagus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp1 C T 12: 30,945,934 (GRCm39) E140K possibly damaging Het
Acsm4 T A 7: 119,293,042 (GRCm39) D57E probably damaging Het
Adamts9 A G 6: 92,826,271 (GRCm39) probably null Het
Aen T A 7: 78,557,060 (GRCm39) Y303N probably damaging Het
Alcam T C 16: 52,116,115 (GRCm39) probably null Het
Apol7b A G 15: 77,309,746 (GRCm39) L17P probably damaging Het
Cacna1c A T 6: 118,629,754 (GRCm39) Y1058* probably null Het
Camk2d T C 3: 126,601,873 (GRCm39) V354A probably benign Het
Carf T G 1: 60,164,017 (GRCm39) M43R probably damaging Het
Casp8 T A 1: 58,863,283 (GRCm39) F81Y probably damaging Het
Cd74 G A 18: 60,937,064 (GRCm39) R20H probably benign Het
Cers5 A T 15: 99,643,812 (GRCm39) Y16* probably null Het
D130043K22Rik C A 13: 25,055,324 (GRCm39) P496Q probably damaging Het
Dab2 A G 15: 6,459,419 (GRCm39) R311G probably damaging Het
Depp1 A T 6: 116,629,223 (GRCm39) S189C possibly damaging Het
Diaph1 A T 18: 38,038,187 (GRCm39) I48N unknown Het
Dnajc13 T C 9: 104,057,320 (GRCm39) D1560G probably damaging Het
Dsg2 T C 18: 20,715,780 (GRCm39) S241P probably damaging Het
Efcab5 T C 11: 76,996,204 (GRCm39) D1119G probably benign Het
Efr3a G T 15: 65,740,906 (GRCm39) probably benign Het
Evc2 A G 5: 37,550,427 (GRCm39) K814E probably damaging Het
Hic2 A G 16: 17,076,686 (GRCm39) D505G probably benign Het
Ing1 T A 8: 11,607,010 (GRCm39) V34D probably damaging Het
Inpp5k A G 11: 75,528,317 (GRCm39) M172V probably benign Het
Itgae T C 11: 73,006,418 (GRCm39) V362A probably damaging Het
Lama2 T A 10: 27,063,750 (GRCm39) R1346S probably damaging Het
Lrrc7 T C 3: 157,882,943 (GRCm39) N450S probably damaging Het
Lrrn3 T A 12: 41,502,583 (GRCm39) Y578F possibly damaging Het
Maml2 A T 9: 13,617,797 (GRCm39) N381I probably damaging Het
Mettl15 T G 2: 108,923,266 (GRCm39) E385D probably benign Het
Mthfr T A 4: 148,139,900 (GRCm39) I623N possibly damaging Het
Muc4 A C 16: 32,574,448 (GRCm39) N966T probably benign Het
Myoc A G 1: 162,476,565 (GRCm39) Y423C probably damaging Het
Ncoa2 A T 1: 13,218,602 (GRCm39) M1409K probably benign Het
Ncor2 T C 5: 125,187,039 (GRCm39) probably benign Het
Numb T C 12: 83,844,033 (GRCm39) E395G probably damaging Het
Oas1g A G 5: 121,020,012 (GRCm39) F198S probably damaging Het
Or2b28 T C 13: 21,531,194 (GRCm39) V32A probably benign Het
Or5k17 A G 16: 58,746,049 (GRCm39) V295A probably benign Het
Prdm13 T A 4: 21,678,909 (GRCm39) Y527F probably damaging Het
Prr14l A G 5: 32,986,177 (GRCm39) L1106P probably damaging Het
Ptbp1 T A 10: 79,699,107 (GRCm39) I555N probably damaging Het
Ptchd4 A T 17: 42,814,606 (GRCm39) T836S possibly damaging Het
Rlbp1 T C 7: 79,033,686 (GRCm39) D3G probably benign Het
Sdk2 T C 11: 113,685,871 (GRCm39) E1883G probably damaging Het
Serpinc1 A T 1: 160,820,974 (GRCm39) K140N probably damaging Het
Serpind1 A T 16: 17,160,249 (GRCm39) Y382F probably damaging Het
Slc28a3 T C 13: 58,710,920 (GRCm39) E534G probably damaging Het
Slco1a7 A G 6: 141,711,429 (GRCm39) M94T probably benign Het
Ttyh2 T A 11: 114,601,005 (GRCm39) I418N probably benign Het
Tubgcp4 C T 2: 121,005,905 (GRCm39) Q98* probably null Het
Ugt2a2 A G 5: 87,611,965 (GRCm39) L315P probably damaging Het
Vwa1 A T 4: 155,857,358 (GRCm39) S147T probably damaging Het
Xylt1 T C 7: 117,191,179 (GRCm39) V325A possibly damaging Het
Zfp335 T C 2: 164,741,376 (GRCm39) H685R probably damaging Het
Other mutations in Chuk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Chuk APN 19 44,076,462 (GRCm39) missense possibly damaging 0.56
IGL00585:Chuk APN 19 44,066,751 (GRCm39) missense probably damaging 0.99
IGL00662:Chuk APN 19 44,085,649 (GRCm39) missense possibly damaging 0.64
IGL01419:Chuk APN 19 44,085,420 (GRCm39) missense probably damaging 1.00
IGL01728:Chuk APN 19 44,087,085 (GRCm39) missense possibly damaging 0.94
IGL01753:Chuk APN 19 44,087,015 (GRCm39) splice site probably benign
woodchuck UTSW 19 44,067,416 (GRCm39) missense probably damaging 1.00
PIT4362001:Chuk UTSW 19 44,087,022 (GRCm39) critical splice donor site probably null
PIT4382001:Chuk UTSW 19 44,087,046 (GRCm39) missense probably damaging 0.99
R0107:Chuk UTSW 19 44,085,358 (GRCm39) missense probably damaging 1.00
R0107:Chuk UTSW 19 44,085,358 (GRCm39) missense probably damaging 1.00
R0504:Chuk UTSW 19 44,070,377 (GRCm39) splice site probably benign
R0731:Chuk UTSW 19 44,092,205 (GRCm39) splice site probably benign
R0846:Chuk UTSW 19 44,079,467 (GRCm39) missense probably damaging 1.00
R1585:Chuk UTSW 19 44,065,812 (GRCm39) missense possibly damaging 0.89
R2020:Chuk UTSW 19 44,095,782 (GRCm39) missense possibly damaging 0.59
R2179:Chuk UTSW 19 44,092,160 (GRCm39) missense possibly damaging 0.95
R2441:Chuk UTSW 19 44,085,360 (GRCm39) missense probably damaging 1.00
R4125:Chuk UTSW 19 44,088,613 (GRCm39) missense probably null 0.00
R4180:Chuk UTSW 19 44,090,279 (GRCm39) missense probably benign 0.01
R4746:Chuk UTSW 19 44,077,210 (GRCm39) missense possibly damaging 0.86
R4815:Chuk UTSW 19 44,065,686 (GRCm39) nonsense probably null
R4852:Chuk UTSW 19 44,077,197 (GRCm39) missense possibly damaging 0.91
R5330:Chuk UTSW 19 44,067,394 (GRCm39) missense probably damaging 1.00
R5331:Chuk UTSW 19 44,067,394 (GRCm39) missense probably damaging 1.00
R5517:Chuk UTSW 19 44,085,972 (GRCm39) critical splice acceptor site probably null
R5854:Chuk UTSW 19 44,070,396 (GRCm39) missense probably benign 0.00
R6149:Chuk UTSW 19 44,090,270 (GRCm39) missense probably damaging 1.00
R6161:Chuk UTSW 19 44,071,076 (GRCm39) missense probably damaging 1.00
R6232:Chuk UTSW 19 44,085,431 (GRCm39) missense probably benign 0.21
R6768:Chuk UTSW 19 44,085,390 (GRCm39) missense probably damaging 0.96
R6865:Chuk UTSW 19 44,075,354 (GRCm39) nonsense probably null
R7916:Chuk UTSW 19 44,085,420 (GRCm39) missense probably damaging 1.00
R8038:Chuk UTSW 19 44,067,416 (GRCm39) missense probably damaging 1.00
R8064:Chuk UTSW 19 44,071,115 (GRCm39) missense probably damaging 1.00
R8187:Chuk UTSW 19 44,079,551 (GRCm39) missense probably benign 0.05
R8272:Chuk UTSW 19 44,092,175 (GRCm39) missense possibly damaging 0.75
R8481:Chuk UTSW 19 44,084,678 (GRCm39) missense probably benign 0.00
R8739:Chuk UTSW 19 44,077,135 (GRCm39) missense probably benign 0.01
R8852:Chuk UTSW 19 44,076,407 (GRCm39) missense possibly damaging 0.96
R8860:Chuk UTSW 19 44,076,407 (GRCm39) missense possibly damaging 0.96
R9176:Chuk UTSW 19 44,076,442 (GRCm39) missense probably damaging 1.00
R9228:Chuk UTSW 19 44,095,789 (GRCm39) missense probably damaging 1.00
R9328:Chuk UTSW 19 44,085,422 (GRCm39) nonsense probably null
R9380:Chuk UTSW 19 44,062,958 (GRCm39) missense unknown
R9444:Chuk UTSW 19 44,075,385 (GRCm39) missense
R9717:Chuk UTSW 19 44,071,109 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- CGGATGGCCTCAAAAGCAGTGAATG -3'
(R):5'- AGCAGTGCCACACTTCAAGGAC -3'

Sequencing Primer
(F):5'- cccagcaccagtcacatc -3'
(R):5'- ACAGTGTTCTTCAGCAAAAGG -3'
Posted On 2014-03-14