Incidental Mutation 'R9380:Chuk'
ID 709984
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9380 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 44061774-44095919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44062958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 744 (A744S)
Ref Sequence ENSEMBL: ENSMUSP00000026217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026217] [ENSMUST00000071698] [ENSMUST00000112028] [ENSMUST00000119591] [ENSMUST00000169092] [ENSMUST00000170801] [ENSMUST00000172041]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000026217
AA Change: A744S
SMART Domains Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199
AA Change: A744S

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 benign
Transcript: ENSMUST00000071698
SMART Domains Protein: ENSMUSP00000071618
Gene: ENSMUSG00000025198

DomainStartEndE-ValueType
PHB 23 189 1.26e-38 SMART
Blast:PHB 217 253 2e-12 BLAST
low complexity region 254 271 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112028
SMART Domains Protein: ENSMUSP00000107659
Gene: ENSMUSG00000025198

DomainStartEndE-ValueType
PHB 23 189 1.26e-38 SMART
Blast:PHB 217 253 2e-12 BLAST
low complexity region 254 271 N/A INTRINSIC
Predicted Effect probably benign
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 probably benign
Transcript: ENSMUST00000169092
Predicted Effect probably benign
Transcript: ENSMUST00000170801
SMART Domains Protein: ENSMUSP00000129684
Gene: ENSMUSG00000025198

DomainStartEndE-ValueType
PHB 23 189 1.26e-38 SMART
Blast:PHB 217 253 2e-12 BLAST
low complexity region 254 271 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172041
SMART Domains Protein: ENSMUSP00000131012
Gene: ENSMUSG00000025198

DomainStartEndE-ValueType
PHB 23 158 8.76e-15 SMART
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (79/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 T G 1: 78,659,602 (GRCm39) C85G possibly damaging Het
Alox12e A T 11: 70,206,994 (GRCm39) probably null Het
Aoc1l2 T C 6: 48,910,064 (GRCm39) I667T probably damaging Het
Asb10 A C 5: 24,739,103 (GRCm39) probably null Het
B3galt9 G A 2: 34,729,029 (GRCm39) C276Y probably damaging Het
Bcl2a1d G A 9: 88,613,935 (GRCm39) probably benign Het
Camsap3 A T 8: 3,653,999 (GRCm39) K556N probably benign Het
Cd300lf T A 11: 115,015,153 (GRCm39) T146S probably benign Het
Clint1 A T 11: 45,742,988 (GRCm39) M4L probably benign Het
Cnot4 T C 6: 35,029,865 (GRCm39) I344M possibly damaging Het
Cpne1 T C 2: 155,920,721 (GRCm39) D135G probably benign Het
Csgalnact2 C A 6: 118,105,840 (GRCm39) L159F probably damaging Het
Dnai2 T C 11: 114,635,989 (GRCm39) F325L probably benign Het
Dnal4 G A 15: 79,647,790 (GRCm39) S25L possibly damaging Het
Ep300 T C 15: 81,500,245 (GRCm39) M515T unknown Het
Ewsr1 T C 11: 5,043,730 (GRCm39) Y18C possibly damaging Het
Fam25a T C 14: 34,073,957 (GRCm39) T72A possibly damaging Het
Flii T C 11: 60,606,297 (GRCm39) Y1131C probably benign Het
Foxj1 C T 11: 116,222,547 (GRCm39) A419T possibly damaging Het
Fsd1l A G 4: 53,693,991 (GRCm39) T323A possibly damaging Het
Furin T C 7: 80,041,506 (GRCm39) I551V probably benign Het
Gbp11 A G 5: 105,475,202 (GRCm39) V382A probably benign Het
Gfod1 A C 13: 43,354,320 (GRCm39) D218E probably damaging Het
Glp2r A T 11: 67,637,572 (GRCm39) I153N possibly damaging Het
Gm11214 G T 4: 63,580,850 (GRCm39) P100T possibly damaging Het
Gne A T 4: 44,066,807 (GRCm39) F69I probably benign Het
Hsd3b2 T C 3: 98,619,453 (GRCm39) K164R probably damaging Het
Hspa1b T C 17: 35,177,170 (GRCm39) R272G probably damaging Het
Hydin C A 8: 111,290,504 (GRCm39) T3321N probably benign Het
Impg1 A T 9: 80,289,077 (GRCm39) S327T probably benign Het
Izumo2 T C 7: 44,364,812 (GRCm39) V159A probably benign Het
Kat6b T C 14: 21,678,926 (GRCm39) S430P probably damaging Het
Kcnj9 T A 1: 172,153,447 (GRCm39) T226S probably benign Het
Kl T A 5: 150,912,342 (GRCm39) M697K possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lrrk1 G A 7: 65,928,331 (GRCm39) P1266S probably damaging Het
Med13 A T 11: 86,177,598 (GRCm39) N1499K probably benign Het
Mybbp1a A G 11: 72,333,668 (GRCm39) I182V probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nin A G 12: 70,074,805 (GRCm39) L1859P Het
Nlrp4e C G 7: 23,020,755 (GRCm39) A414G probably benign Het
Or2y10 A G 11: 49,454,904 (GRCm39) D52G possibly damaging Het
Or4a67 A T 2: 88,598,530 (GRCm39) I43N probably damaging Het
Or4k1 C A 14: 50,377,770 (GRCm39) G109W probably damaging Het
Or8b50 A G 9: 38,518,415 (GRCm39) Y218C probably damaging Het
Osbpl8 T A 10: 111,108,980 (GRCm39) S421T probably damaging Het
Paqr7 A G 4: 134,234,350 (GRCm39) N69S probably damaging Het
Pcare A T 17: 72,056,351 (GRCm39) S1109T possibly damaging Het
Pdgfrb G A 18: 61,197,920 (GRCm39) G231D probably damaging Het
Pip5k1b A G 19: 24,356,417 (GRCm39) Y174H probably damaging Het
Pkd1 T A 17: 24,769,262 (GRCm39) L9Q unknown Het
Psmg4 A T 13: 34,350,080 (GRCm39) T71S probably benign Het
Ptpn23 A G 9: 110,221,581 (GRCm39) I173T possibly damaging Het
Qser1 G A 2: 104,619,691 (GRCm39) Q284* probably null Het
Rcc2 G T 4: 140,429,702 (GRCm39) A79S probably benign Het
Rgl3 G T 9: 21,888,123 (GRCm39) Q464K probably damaging Het
Rhov C A 2: 119,100,604 (GRCm39) R211L probably benign Het
Rp1l1 A G 14: 64,266,475 (GRCm39) D687G probably benign Het
Selenbp2 A G 3: 94,609,654 (GRCm39) I291V probably benign Het
Sh3glb2 A T 2: 30,238,625 (GRCm39) V189E probably damaging Het
Slc46a2 A G 4: 59,913,867 (GRCm39) I352T probably damaging Het
Sucla2 T A 14: 73,828,312 (GRCm39) N306K probably benign Het
Suco A G 1: 161,646,074 (GRCm39) V1209A possibly damaging Het
Tacc2 T A 7: 130,226,771 (GRCm39) L1152Q possibly damaging Het
Tanc1 A T 2: 59,665,796 (GRCm39) K1185M probably damaging Het
Tas2r114 A G 6: 131,666,381 (GRCm39) F216L probably benign Het
Tead1 A T 7: 112,441,105 (GRCm39) H78L possibly damaging Het
Tex12 T C 9: 50,469,586 (GRCm39) I64V possibly damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Trank1 A G 9: 111,221,738 (GRCm39) E2825G probably benign Het
Trappc13 T A 13: 104,280,707 (GRCm39) Y399F probably damaging Het
Trim21 T C 7: 102,212,992 (GRCm39) D102G probably damaging Het
Trim27 G T 13: 21,364,680 (GRCm39) V6L probably benign Het
Trim55 A G 3: 19,728,559 (GRCm39) T457A probably benign Het
Trrap A G 5: 144,769,981 (GRCm39) E2716G probably benign Het
Usp10 T G 8: 120,682,943 (GRCm39) L712R probably damaging Het
Vldlr T A 19: 27,216,192 (GRCm39) C338S possibly damaging Het
Zfp946 A G 17: 22,673,680 (GRCm39) I145V probably benign 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
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
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'- ATGATCTCCCTCATTAGTTGCG -3'
(R):5'- TGAGTTCCCAGAAGATAAAGTAAGC -3'

Sequencing Primer
(F):5'- CCCTCATTAGTTGCGGTGTTAAAAAG -3'
(R):5'- TAAAAGTGAACTCTACATTCAG -3'
Posted On 2022-04-18