Mutagenetix > Incidental Mutation

Incidental Mutation 'R9717:Chuk'

730576

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44073335-44107480 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44082670 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 532 (D532G)

Ref Sequence

ENSEMBL: ENSMUSP00000026217 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026217
AA Change: D532G

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026217
Gene: ENSMUSG00000025199
AA Change: D532G

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: D532G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113809
Gene: ENSMUSG00000025199
AA Change: D532G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,520,781	N2552I	probably damaging	Het
Amph	G	T	13: 19,125,083	A444S	probably benign	Het
Ankrd52	A	G	10: 128,380,588	N157S	probably benign	Het
Arhgap29	T	C	3: 122,004,271	F537L	probably benign	Het
Asic1	A	C	15: 99,692,776	T136P	probably damaging	Het
Atg2b	T	C	12: 105,639,302	Y1468C	probably benign	Het
Atm	A	G	9: 53,516,517	L431P	probably damaging	Het
Btaf1	A	G	19: 36,945,246	T17A	probably benign	Het
Car10	A	G	11: 93,304,541	N58S	probably benign	Het
Cd79b	A	T	11: 106,312,019	D252E	probably damaging	Het
Cdipt	C	T	7: 126,977,030		probably benign	Het
Cebpe	T	C	14: 54,711,708	D84G	probably damaging	Het
Cenpj	T	C	14: 56,552,996	E532G	probably benign	Het
Cherp	A	G	8: 72,463,076		probably null	Het
Clec1b	C	T	6: 129,397,640	T9I	probably benign	Het
Clspn	G	T	4: 126,564,963	A280S	possibly damaging	Het
Cts3	T	G	13: 61,564,985	Y307S	probably benign	Het
Cyp2c39	T	C	19: 39,568,049	M443T	possibly damaging	Het
Dhx57	C	T	17: 80,275,018	R386H	probably damaging	Het
Dhx58	A	T	11: 100,701,307	M305K	probably benign	Het
Dlgap3	T	C	4: 127,235,494	L894P	probably damaging	Het
Dnah3	A	T	7: 119,975,076	N2164K	probably damaging	Het
Dnajb14	A	G	3: 137,902,283	N183S	probably benign	Het
Drd5	G	T	5: 38,320,747	R361L	probably damaging	Het
Duoxa1	T	C	2: 122,305,141	E159G	probably damaging	Het
Exoc1	T	A	5: 76,563,232	S659R	probably benign	Het
Fam214b	T	C	4: 43,036,050	H227R	probably damaging	Het
Fbln7	T	C	2: 128,877,394	I37T	probably benign	Het
Fcgrt	T	G	7: 45,095,429	E205A	possibly damaging	Het
Fcho2	A	T	13: 98,763,694	S304T	probably damaging	Het
Gbp9	C	A	5: 105,105,721	G43*	probably null	Het
Gm21671	T	C	5: 25,949,831	E257G	probably damaging	Het
Gucy2d	A	G	7: 98,474,661	K151R	probably benign	Het
Heatr4	T	A	12: 83,978,055	I331F	probably damaging	Het
Hmcn1	G	A	1: 150,609,627	T4408I	probably damaging	Het
Hoxc9	C	T	15: 102,982,119	T156M	probably benign	Het
Hrnr	A	T	3: 93,320,680	E35V	probably damaging	Het
Idua	C	T	5: 108,670,171	Q70*	probably null	Het
Klf5	A	T	14: 99,301,753	I201F	probably damaging	Het
Lonrf1	T	C	8: 36,234,010	K349E	probably damaging	Het
Lrp1b	A	T	2: 41,268,383	D1721E		Het
Mdh1	T	A	11: 21,571,870		probably benign	Het
Mllt11	T	C	3: 95,220,210	H83R	probably benign	Het
Mrgprb4	A	C	7: 48,198,835	I115S	possibly damaging	Het
Mrpl38	A	G	11: 116,132,470	F319S	probably damaging	Het
Naif1	A	T	2: 32,454,895	M204L	probably benign	Het
Ncan	T	A	8: 70,101,978	D1063V	probably damaging	Het
Noto	A	T	6: 85,424,345	R119W	possibly damaging	Het
Olfr1220	G	A	2: 89,097,229	L233F	probably benign	Het
Olfr147	A	T	9: 38,403,545	I224F	probably damaging	Het
Olfr573-ps1	A	T	7: 102,941,958	D206E	probably damaging	Het
Olfr816	T	A	10: 129,912,179	Y33F	probably damaging	Het
Ovch2	A	G	7: 107,794,377	W181R	probably damaging	Het
Palm	G	C	10: 79,819,283	G292R	probably damaging	Het
Pdgfrb	T	A	18: 61,072,715	L591*	probably null	Het
Pik3c2g	T	C	6: 139,896,184	S772P		Het
Prx	C	A	7: 27,517,986	D776E	probably benign	Het
Ptpra	A	G	2: 130,542,446	E562G	possibly damaging	Het
Rbm4b	A	G	19: 4,757,331	Y25C	probably damaging	Het
Reln	T	C	5: 21,931,429	T2534A	probably benign	Het
Rnf123	T	C	9: 108,077,764	S14G	probably benign	Het
Rock2	A	G	12: 16,965,601	H833R	probably benign	Het
Rxfp3	A	G	15: 11,037,025	V87A	possibly damaging	Het
S100b	G	A	10: 76,257,102	G23D	probably damaging	Het
Scn9a	T	A	2: 66,526,658	M1100L	probably benign	Het
Sept11	T	A	5: 93,148,407	S55T	possibly damaging	Het
Sv2b	T	A	7: 75,119,928	Q622L	probably benign	Het
Taar7a	T	C	10: 23,992,901	D194G	probably benign	Het
Trappc3	T	C	4: 126,275,221	I168T	probably benign	Het
Trim27	T	C	13: 21,190,126		probably null	Het
Wdr49	G	A	3: 75,397,052	T109I	probably benign	Het
Wdr64	T	C	1: 175,717,288	Y96H	probably damaging	Het
Zfp219	A	T	14: 52,009,592	L26Q	probably damaging	Het
Zfp758	T	A	17: 22,374,848	V105D	possibly damaging	Het
Zfp975	C	G	7: 42,662,908	E94Q	possibly damaging	Het
Zfyve9	C	T	4: 108,682,137	A289T	probably benign	Het
Zscan5b	T	C	7: 6,231,526	S184P	possibly 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
R0731:Chuk	UTSW	19	44103766	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

Predicted Primers

PCR Primer
(F):5'- TCCCTATGACTAAGAAAGAGCTTC -3'
(R):5'- CTTTAACCAGTCTAGTGTGCTTTAC -3'

Sequencing Primer
(F):5'- AACCTGAGTTCAATTCCTGGG -3'
(R):5'- TACAGGTTCAAGACTAGTCTAGCC -3'

Posted On

2022-10-06