Incidental Mutation 'R5517:Chuk'
ID 431378
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 043076-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5517 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 44061774-44095919 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 44085972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199

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
SMART Domains Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199

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: ENSMUST00000146861
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147423
Meta Mutation Damage Score 0.9501 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.2%
  • 20x: 90.5%
Validation Efficiency 99% (67/68)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C T 17: 36,269,233 (GRCm39) R675K possibly damaging Het
Aire A T 10: 77,875,525 (GRCm39) S282T probably benign Het
Ak9 A G 10: 41,216,887 (GRCm39) E283G probably benign Het
Akap9 T A 5: 4,051,665 (GRCm39) D1477E possibly damaging Het
Ap2a1 T C 7: 44,556,405 (GRCm39) D273G possibly damaging Het
Apob T C 12: 8,040,906 (GRCm39) L664P probably damaging Het
Arhgap35 A T 7: 16,297,414 (GRCm39) F550L probably damaging Het
Armc2 T C 10: 41,839,846 (GRCm39) E373G probably benign Het
Atp8b2 C A 3: 89,853,338 (GRCm39) A726S probably benign Het
C030048H21Rik T A 2: 26,145,899 (GRCm39) Q87L probably damaging Het
Cd244a T A 1: 171,405,542 (GRCm39) probably benign Het
Cdk10 T A 8: 123,957,326 (GRCm39) probably null Het
Cenpe C A 3: 134,929,026 (GRCm39) P310Q probably damaging Het
Crebl2 T C 6: 134,828,139 (GRCm39) S104P probably benign Het
Ddo A G 10: 40,523,726 (GRCm39) K239E probably benign Het
Defb5 A G 8: 19,300,868 (GRCm39) probably null Het
Dhx35 T A 2: 158,676,832 (GRCm39) M422K probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Gatm G A 2: 122,426,024 (GRCm39) T409I probably damaging Het
Gdpd1 A T 11: 86,950,332 (GRCm39) D80E probably damaging Het
Gspt1 C A 16: 11,071,843 (GRCm39) G7C unknown Het
Hells G A 19: 38,943,244 (GRCm39) S516N probably benign Het
Ints1 A G 5: 139,738,542 (GRCm39) S2069P possibly damaging Het
Kank4 G A 4: 98,663,118 (GRCm39) T690M probably damaging Het
Kcnq4 T C 4: 120,573,006 (GRCm39) N265S possibly damaging Het
Kif5b C A 18: 6,220,954 (GRCm39) A385S probably benign Het
Map2 T C 1: 66,454,415 (GRCm39) S1102P probably benign Het
Mcm7 A G 5: 138,163,133 (GRCm39) S340P possibly damaging Het
Mcrs1 C T 15: 99,144,876 (GRCm39) R246H possibly damaging Het
Myo16 T A 8: 10,610,226 (GRCm39) M1189K probably benign Het
Or4d2 A T 11: 87,783,892 (GRCm39) I286N probably damaging Het
Or4k52 G T 2: 111,610,804 (GRCm39) M46I probably benign Het
Or7g29 G A 9: 19,287,063 (GRCm39) T38I probably damaging Het
Otog A G 7: 45,923,995 (GRCm39) N1118S probably damaging Het
Pakap T C 4: 57,855,987 (GRCm39) Y439H probably damaging Het
Pcdhb7 G T 18: 37,474,846 (GRCm39) probably benign Het
Picalm C T 7: 89,819,806 (GRCm39) T189I possibly damaging Het
Ptx4 T A 17: 25,343,760 (GRCm39) S337T possibly damaging Het
Rad51ap2 C T 12: 11,508,313 (GRCm39) S745L probably benign Het
Rspry1 G A 8: 95,363,388 (GRCm39) probably null Het
Scn5a T G 9: 119,324,779 (GRCm39) I1350L probably damaging Het
Sgk2 T C 2: 162,839,755 (GRCm39) L121P probably damaging Het
Slc17a1 A T 13: 24,056,575 (GRCm39) probably benign Het
Slc6a12 A G 6: 121,331,298 (GRCm39) N183S probably benign Het
Smg9 C A 7: 24,114,338 (GRCm39) probably benign Het
Spred1 G A 2: 117,008,195 (GRCm39) S367N probably damaging Het
Srpra T C 9: 35,122,646 (GRCm39) V21A probably benign Het
Taar2 A T 10: 23,816,627 (GRCm39) I56F possibly damaging Het
Taf1a T G 1: 183,177,323 (GRCm39) L67R probably damaging Het
Tbc1d10b C A 7: 126,797,779 (GRCm39) R787S possibly damaging Het
Topbp1 T A 9: 103,213,313 (GRCm39) N1044K probably benign Het
Usp24 A G 4: 106,232,871 (GRCm39) T886A probably benign Het
Vmn2r26 A G 6: 124,027,676 (GRCm39) D472G probably damaging Het
Zyg11a T C 4: 108,061,943 (GRCm39) N286S possibly 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
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'- TCTGGGGCCTTAAAATAGAAATTGC -3'
(R):5'- TGTGTTGTCTCAGAGCCCAG -3'

Sequencing Primer
(F):5'- TGCTTTAAGTGCCAACATTGTAAG -3'
(R):5'- GGACAACCTGCAGGAATTAGTTCTC -3'
Posted On 2016-10-05