Incidental Mutation 'R6149:Chuk'
ID 489111
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 044296-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6149 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 44061774-44095919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44090270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 74 (V74A)
Ref Sequence ENSEMBL: ENSMUSP00000113809 (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: V74A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199
AA Change: V74A

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: V74A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199
AA Change: V74A

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 0.6061 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency 99% (69/70)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930558K02Rik T A 1: 161,777,211 (GRCm39) R115S probably benign Het
Adgre1 A G 17: 57,752,018 (GRCm39) K589E probably benign Het
Adgrv1 A T 13: 81,330,893 (GRCm39) L74Q probably damaging Het
Avil A G 10: 126,842,451 (GRCm39) I77V probably benign Het
Best2 T C 8: 85,739,896 (GRCm39) E57G probably benign Het
Cacna1a T C 8: 85,296,581 (GRCm39) C1200R probably damaging Het
Catsperb T A 12: 101,516,098 (GRCm39) I578K probably damaging Het
Chsy1 A G 7: 65,775,133 (GRCm39) Y154C probably damaging Het
Ckb T C 12: 111,638,248 (GRCm39) S49G probably damaging Het
Crtac1 A G 19: 42,272,048 (GRCm39) Y632H unknown Het
Ern1 C A 11: 106,296,641 (GRCm39) E770* probably null Het
Fam114a2 A C 11: 57,378,415 (GRCm39) V450G probably benign Het
Fgf15 C T 7: 144,453,506 (GRCm39) Q125* probably null Het
Frem2 A T 3: 53,458,762 (GRCm39) S2036T probably damaging Het
Fxr2 G A 11: 69,540,030 (GRCm39) V296I probably benign Het
Gm15264 C A 3: 94,640,736 (GRCm39) noncoding transcript Het
Ifi213 A T 1: 173,421,581 (GRCm39) S103T probably benign Het
Igkv5-37 T A 6: 69,940,472 (GRCm39) Q57H probably damaging Het
Il1rap A G 16: 26,530,969 (GRCm39) Y435C probably damaging Het
Kl T A 5: 150,912,318 (GRCm39) M689K possibly damaging Het
Lcor T A 19: 41,573,641 (GRCm39) W799R probably damaging Het
Lnp1 C T 16: 56,737,735 (GRCm39) E118K probably benign Het
Lrif1 A C 3: 106,639,643 (GRCm39) K243Q possibly damaging Het
Lrp1b G T 2: 40,765,165 (GRCm39) probably null Het
Lvrn G A 18: 47,017,499 (GRCm39) V610I probably benign Het
Med1 T C 11: 98,074,679 (GRCm39) K67R possibly damaging Het
Midn T C 10: 79,990,291 (GRCm39) S278P probably damaging Het
Nrap A G 19: 56,377,885 (GRCm39) V35A possibly damaging Het
Nynrin A T 14: 56,091,780 (GRCm39) Q32L possibly damaging Het
Oog1 C T 12: 87,653,043 (GRCm39) T113I possibly damaging Het
Or10ak7 A G 4: 118,791,628 (GRCm39) L139P probably damaging Het
Or10j3 G T 1: 173,031,582 (GRCm39) V220F probably benign Het
Or4x11 C T 2: 89,867,860 (GRCm39) A199V probably benign Het
Or5b21 A T 19: 12,839,723 (GRCm39) I195F probably benign Het
Or6a2 T C 7: 106,600,807 (GRCm39) I87V probably benign Het
Otogl C T 10: 107,717,314 (GRCm39) V386I probably benign Het
Patj A G 4: 98,312,562 (GRCm39) N300S possibly damaging Het
Pcdhb16 T A 18: 37,612,208 (GRCm39) D389E possibly damaging Het
Pdcd6ip T C 9: 113,488,939 (GRCm39) I699V probably benign Het
Pfas A G 11: 68,882,771 (GRCm39) V790A probably benign Het
Plppr4 A T 3: 117,116,043 (GRCm39) C605S probably benign Het
Ppl G A 16: 4,925,460 (GRCm39) Q60* probably null Het
Ppp1r1c A G 2: 79,586,810 (GRCm39) K52R possibly damaging Het
Pramel29 A G 4: 143,933,983 (GRCm39) S375P probably damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Rpe65 G A 3: 159,319,780 (GRCm39) E217K probably benign Het
Rufy4 T C 1: 74,186,892 (GRCm39) I560T probably benign Het
Ryr2 T C 13: 11,683,903 (GRCm39) S3054G probably benign Het
Serpinb6a A T 13: 34,102,343 (GRCm39) L273H probably damaging Het
Sf3b1 A T 1: 55,046,666 (GRCm39) W293R probably damaging Het
Sik1 A T 17: 32,067,771 (GRCm39) S435T possibly damaging Het
Slc2a12 G T 10: 22,540,401 (GRCm39) M85I probably benign Het
Stk36 T C 1: 74,673,388 (GRCm39) S1094P probably benign Het
Tctn1 A T 5: 122,384,649 (GRCm39) Y393N probably benign Het
Tex9 C T 9: 72,369,282 (GRCm39) probably null Het
Thbs2 A G 17: 14,899,942 (GRCm39) probably null Het
Tmprss7 A T 16: 45,494,268 (GRCm39) C412* probably null Het
Tpp1 T C 7: 105,396,934 (GRCm39) T399A probably benign Het
Trim25 T A 11: 88,906,362 (GRCm39) V387D probably benign Het
Usp45 A C 4: 21,810,797 (GRCm39) D331A probably damaging Het
Vill T G 9: 118,887,482 (GRCm39) V82G possibly damaging Het
Vmn1r189 T C 13: 22,286,054 (GRCm39) D261G probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r111 G A 17: 22,767,796 (GRCm39) T567I probably benign Het
Vmn2r60 A G 7: 41,786,400 (GRCm39) Y401C probably damaging Het
Zc3h11a G A 1: 133,566,613 (GRCm39) R69* probably null 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
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'- GGACCGTATCACATGTGACTCAG -3'
(R):5'- CAGAAATGTGGTCATAACAGTGATG -3'

Sequencing Primer
(F):5'- GTGACTCAGAAACGGCTAATGTTTG -3'
(R):5'- TGGTCATAACAGTGATGGTATTTTTC -3'
Posted On 2017-10-10