Incidental Mutation 'R6161:Chuk'
ID 489900
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 044308-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6161 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 44061774-44095919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44071076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 543 (E543G)
Ref Sequence ENSEMBL: ENSMUSP00000026217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026217] [ENSMUST00000119591]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026217
AA Change: E543G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199
AA Change: E543G

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 damaging
Transcript: ENSMUST00000119591
AA Change: E543G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199
AA Change: E543G

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 100% (54/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,139,934 (GRCm39) K1533M probably damaging Het
Aldh1l2 C T 10: 83,356,202 (GRCm39) V63I probably benign Het
Atr A G 9: 95,747,372 (GRCm39) H218R probably benign Het
Atxn7l1 T A 12: 33,408,662 (GRCm39) S275T possibly damaging Het
Cacna1c T C 6: 119,034,263 (GRCm39) K88R probably damaging Het
Ccl7 T C 11: 81,937,412 (GRCm39) Y49H probably damaging Het
Cers5 A G 15: 99,636,544 (GRCm39) probably null Het
Dip2c T C 13: 9,697,043 (GRCm39) V1318A probably damaging Het
Ercc5 A G 1: 44,206,512 (GRCm39) H475R probably benign Het
Fat3 A G 9: 16,288,818 (GRCm39) L235P probably damaging Het
Fbn1 A T 2: 125,211,721 (GRCm39) C892* probably null Het
Fbxw8 T C 5: 118,230,740 (GRCm39) T354A possibly damaging Het
Fsip2 A C 2: 82,817,601 (GRCm39) T4445P possibly damaging Het
Gpld1 A T 13: 25,155,397 (GRCm39) Q344L probably benign Het
Hao1 A T 2: 134,347,545 (GRCm39) D253E probably benign Het
Hmcn2 A G 2: 31,246,266 (GRCm39) D745G probably benign Het
Kcnt1 A G 2: 25,793,397 (GRCm39) T658A probably benign Het
Klhl35 A G 7: 99,122,544 (GRCm39) probably benign Het
Lnx2 C T 5: 146,978,836 (GRCm39) probably null Het
Map3k5 T C 10: 19,876,321 (GRCm39) V160A probably damaging Het
Masp2 A T 4: 148,698,469 (GRCm39) I517F possibly damaging Het
Mc4r A T 18: 66,992,251 (GRCm39) Y287* probably null Het
Mthfr A G 4: 148,126,211 (GRCm39) D94G probably benign Het
Muc16 A G 9: 18,559,114 (GRCm39) I2393T unknown Het
Mybbp1a G T 11: 72,336,838 (GRCm39) V557L probably damaging Het
Mycbp2 A T 14: 103,536,183 (GRCm39) W256R probably damaging Het
Nacad G A 11: 6,550,902 (GRCm39) S763L probably benign Het
Nebl A G 2: 17,735,641 (GRCm39) V11A probably benign Het
Notch1 A T 2: 26,358,743 (GRCm39) C1363S probably damaging Het
Nphp3 A G 9: 103,909,105 (GRCm39) N772D probably benign Het
Nqo2 G A 13: 34,163,634 (GRCm39) V98M probably damaging Het
Pak4 A G 7: 28,264,692 (GRCm39) I70T possibly damaging Het
Pbx2 A G 17: 34,812,574 (GRCm39) K2E probably damaging Het
Pikfyve A G 1: 65,255,202 (GRCm39) T352A probably benign Het
Polr1g G A 7: 19,091,558 (GRCm39) T183I possibly damaging Het
Pop1 T C 15: 34,526,456 (GRCm39) Y684H probably damaging Het
Rpa1 A G 11: 75,205,721 (GRCm39) V212A probably damaging Het
Rpap2 A G 5: 107,768,536 (GRCm39) E458G probably damaging Het
Sin3a T C 9: 57,002,708 (GRCm39) V200A possibly damaging Het
Sla T C 15: 66,654,447 (GRCm39) T280A probably null Het
Slc22a26 A T 19: 7,763,812 (GRCm39) I406K possibly damaging Het
Slc24a1 T C 9: 64,844,545 (GRCm39) N606S unknown Het
Slc39a10 G A 1: 46,866,567 (GRCm39) T443M probably damaging Het
Smg1 A T 7: 117,762,553 (GRCm39) probably benign Het
Sra1 G A 18: 36,803,336 (GRCm39) A9V probably damaging Het
Stard4 A G 18: 33,342,109 (GRCm39) V47A probably damaging Het
Stat4 A T 1: 52,113,836 (GRCm39) D182V possibly damaging Het
Syt1 A G 10: 108,467,668 (GRCm39) F210L probably damaging Het
Ube2q1 T A 3: 89,688,667 (GRCm39) probably null Het
Vmn1r159 C T 7: 22,542,612 (GRCm39) C140Y possibly damaging Het
Wnt8a T C 18: 34,678,599 (GRCm39) F138L possibly damaging Het
Zfp623 T A 15: 75,820,470 (GRCm39) D475E probably benign Het
Zfp646 C T 7: 127,477,897 (GRCm39) R25W 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
R1433:Chuk UTSW 19 44,067,397 (GRCm39) missense probably null 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
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'- TCCCTATGACTAAGAAAGAGCTTC -3'
(R):5'- TAGCTTTAACCAGTCTAGTGTGC -3'

Sequencing Primer
(F):5'- AACCTGAGTTCAATTCCTGGG -3'
(R):5'- TACAGGTTCAAGACTAGTCTAGCC -3'
Posted On 2017-10-10