Mutagenetix > Incidental Mutation

Incidental Mutation 'R0107:Chuk'

17835

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

038393-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0107 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

44061774-44095919 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44085358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 263 (S263C)

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: S263C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199
AA Change: S263C

Domain	Start	End	E-Value	Type
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: ENSMUST00000119591
AA Change: S263C

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199
AA Change: S263C

Domain	Start	End	E-Value	Type
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

0.1669

Coding Region Coverage

10x: 7.6%
20x: 2.0%

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: 3 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Fut1	C	A	7: 45,268,270 (GRCm39)	Q20K	possibly damaging	Het
Tmem184c	A	G	8: 78,323,702 (GRCm39)	S387P	possibly damaging	Het
Zftraf1	C	T	15: 76,530,547 (GRCm39)	D258N	possibly damaging	Het

Other mutations in Chuk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2013-03-25