Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Chuk'

67599

Institutional Source

Beutler Lab

Gene Symbol

Chuk

Ensembl Gene

ENSMUSG00000025199

Gene Name

conserved helix-loop-helix ubiquitous kinase

Synonyms

Chuk1, IKK 1, IKK alpha, IkappaB kinase alpha, IKKalpha, IKK-1, IKK-alpha, IKK[a], IKK1

MMRRC Submission

038912-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0731 (G1)

Quality Score

112

Status

Validated

Chromosome

Chromosomal Location

44073335-44107480 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 44103766 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026217] [ENSMUST00000026218] [ENSMUST00000119591]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026217

SMART Domains

Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199

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: ENSMUST00000026218

SMART Domains

Protein: ENSMUSP00000026218
Gene: ENSMUSG00000025200

Domain	Start	End	E-Value	Type
Pfam:CwfJ_C_1	314	433	5.6e-37	PFAM
Pfam:CwfJ_C_2	439	534	2.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119591

SMART Domains

Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199

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

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	T	C	10: 100,586,203	T66A	probably damaging	Het
4933406M09Rik	A	C	1: 134,389,975	M162L	probably benign	Het
Acsm3	A	T	7: 119,768,024	R27*	probably null	Het
Actg1	A	G	11: 120,346,949	F255S	probably damaging	Het
Ahdc1	T	A	4: 133,062,951	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,305,390	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,997,495		probably null	Het
Cacnb2	A	G	2: 14,985,706	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,579,143	K398N	probably damaging	Het
Cd79b	G	T	11: 106,312,433	S145R	probably damaging	Het
Cdh11	T	A	8: 102,668,019	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,901,597	D2892G	probably benign	Het
Clk3	T	C	9: 57,751,126		probably benign	Het
Dcaf8	A	T	1: 172,172,509	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,183,089	T87A	probably damaging	Het
Ddx50	T	C	10: 62,616,249	N732D	unknown	Het
Dnah5	A	T	15: 28,311,143	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,969,856	V858E	probably damaging	Het
Fer1l4	A	G	2: 156,024,070	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,113,854	I125V	probably benign	Het
Fuca2	C	T	10: 13,506,027	P228L	probably benign	Het
Galntl6	A	G	8: 58,535,984	F57L	probably benign	Het
Gigyf2	T	A	1: 87,407,727		probably benign	Het
Gm16505	A	T	13: 3,361,329		noncoding transcript	Het
Gm4781	T	C	10: 100,396,777		noncoding transcript	Het
Gm9956	T	A	10: 56,745,543	Y100*	probably null	Het
Gpr137c	T	A	14: 45,246,349	C178S	probably damaging	Het
Gpr83	A	G	9: 14,868,644	R331G	probably benign	Het
Hlcs	T	A	16: 94,131,852	H851L	probably damaging	Het
Kbtbd6	C	A	14: 79,451,884	Y6*	probably null	Het
Kif23	T	C	9: 61,925,032	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,105,733	T487I	probably damaging	Het
Klra5	A	C	6: 129,908,796	D133E	possibly damaging	Het
Klra6	T	C	6: 130,022,705	E100G	probably damaging	Het
Klre1	T	A	6: 129,585,568		probably benign	Het
Lancl1	C	T	1: 67,009,910		probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Man1b1	A	G	2: 25,338,155	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,874,264		probably benign	Het
Mast3	A	G	8: 70,781,321	S178P	probably damaging	Het
Mau2	A	G	8: 70,023,612		probably null	Het
Mkrn2	A	T	6: 115,614,651	N312Y	probably damaging	Het
Mrvi1	T	C	7: 110,876,900	S615G	probably benign	Het
Myh1	A	G	11: 67,202,533	E150G	probably damaging	Het
Myo7b	T	A	18: 31,961,825		probably null	Het
Nyap1	A	G	5: 137,735,298	V491A	probably damaging	Het
Olfr1284	A	G	2: 111,379,293	M98V	probably damaging	Het
Olfr484	T	C	7: 108,124,734	I176M	probably benign	Het
Olfr518	A	T	7: 108,881,533	N24K	probably damaging	Het
Olfr954	T	C	9: 39,461,532	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893	H385Q	probably damaging	Het
Pbld2	T	C	10: 63,056,811	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,029,305	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,351,541	H266Q	probably damaging	Het
Rbfox2	A	G	15: 77,099,279	S141P	probably benign	Het
Rdx	A	G	9: 52,068,218	T214A	probably benign	Het
Ripor2	A	T	13: 24,680,644	E219V	probably damaging	Het
Rufy2	G	A	10: 63,011,844		probably benign	Het
Slf2	T	A	19: 44,975,726		probably benign	Het
Snrnp200	G	T	2: 127,226,145		probably benign	Het
Snx7	T	A	3: 117,829,671		probably benign	Het
Stt3a	T	C	9: 36,735,512	I602V	probably damaging	Het
Tacr3	G	A	3: 134,855,000		probably null	Het
Tcerg1	C	T	18: 42,571,840	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,788,269	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,365,488	D860G	probably damaging	Het
Try4	T	C	6: 41,304,367	L81P	probably benign	Het
Ucp1	T	C	8: 83,297,847		probably benign	Het
Ugt2b38	G	A	5: 87,420,452	A328V	probably damaging	Het
Wfikkn1	T	A	17: 25,878,017	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,410,632	T875A	probably benign	Het
Zfp11	A	G	5: 129,657,264	S378P	probably damaging	Het
Zfp984	T	A	4: 147,756,232	N54I	probably damaging	Het

Other mutations in Chuk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Chuk	APN	19	44088023	missense	possibly damaging	0.56
IGL00585:Chuk	APN	19	44078312	missense	probably damaging	0.99
IGL00662:Chuk	APN	19	44097210	missense	possibly damaging	0.64
IGL01419:Chuk	APN	19	44096981	missense	probably damaging	1.00
IGL01728:Chuk	APN	19	44098646	missense	possibly damaging	0.94
IGL01753:Chuk	APN	19	44098576	splice site	probably benign
woodchuck	UTSW	19	44078977	missense	probably damaging	1.00
PIT4362001:Chuk	UTSW	19	44098583	critical splice donor site	probably null
PIT4382001:Chuk	UTSW	19	44098607	missense	probably damaging	0.99
R0107:Chuk	UTSW	19	44096919	missense	probably damaging	1.00
R0107:Chuk	UTSW	19	44096919	missense	probably damaging	1.00
R0504:Chuk	UTSW	19	44081938	splice site	probably benign
R0846:Chuk	UTSW	19	44091028	missense	probably damaging	1.00
R1433:Chuk	UTSW	19	44078958	missense	probably null	1.00
R1585:Chuk	UTSW	19	44077373	missense	possibly damaging	0.89
R2020:Chuk	UTSW	19	44107343	missense	possibly damaging	0.59
R2179:Chuk	UTSW	19	44103721	missense	possibly damaging	0.95
R2441:Chuk	UTSW	19	44096921	missense	probably damaging	1.00
R4125:Chuk	UTSW	19	44100174	missense	probably null	0.00
R4180:Chuk	UTSW	19	44101840	missense	probably benign	0.01
R4746:Chuk	UTSW	19	44088771	missense	possibly damaging	0.86
R4815:Chuk	UTSW	19	44077247	nonsense	probably null
R4852:Chuk	UTSW	19	44088758	missense	possibly damaging	0.91
R5330:Chuk	UTSW	19	44078955	missense	probably damaging	1.00
R5331:Chuk	UTSW	19	44078955	missense	probably damaging	1.00
R5517:Chuk	UTSW	19	44097533	critical splice acceptor site	probably null
R5854:Chuk	UTSW	19	44081957	missense	probably benign	0.00
R6149:Chuk	UTSW	19	44101831	missense	probably damaging	1.00
R6161:Chuk	UTSW	19	44082637	missense	probably damaging	1.00
R6232:Chuk	UTSW	19	44096992	missense	probably benign	0.21
R6768:Chuk	UTSW	19	44096951	missense	probably damaging	0.96
R6865:Chuk	UTSW	19	44086915	nonsense	probably null
R7916:Chuk	UTSW	19	44096981	missense	probably damaging	1.00
R8038:Chuk	UTSW	19	44078977	missense	probably damaging	1.00
R8064:Chuk	UTSW	19	44082676	missense	probably damaging	1.00
R8187:Chuk	UTSW	19	44091112	missense	probably benign	0.05
R8272:Chuk	UTSW	19	44103736	missense	possibly damaging	0.75
R8481:Chuk	UTSW	19	44096239	missense	probably benign	0.00
R8739:Chuk	UTSW	19	44088696	missense	probably benign	0.01
R8852:Chuk	UTSW	19	44087968	missense	possibly damaging	0.96
R8860:Chuk	UTSW	19	44087968	missense	possibly damaging	0.96
R9176:Chuk	UTSW	19	44088003	missense	probably damaging	1.00
R9228:Chuk	UTSW	19	44107350	missense	probably damaging	1.00
R9328:Chuk	UTSW	19	44096983	nonsense	probably null
R9380:Chuk	UTSW	19	44074519	missense	unknown
R9444:Chuk	UTSW	19	44086946	missense
R9717:Chuk	UTSW	19	44082670	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- GCCGTAGAACTGAAGAACCTAAGTCC -3'
(R):5'- CCGTGCCATTTGAAATGTAAAGGTTGG -3'

Sequencing Primer
(F):5'- ATTTCATGGCACCATCGCTC -3'
(R):5'- ACGTTGGCTAAAGAGAGCTGTG -3'

Posted On

2013-09-03