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

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 #

R9717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44061774-44095919 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44071109 bp (GRCm39)

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: 81,668,900 (GRCm39)	N2552I	probably damaging	Het
Amph	G	T	13: 19,309,253 (GRCm39)	A444S	probably benign	Het
Ankrd52	A	G	10: 128,216,457 (GRCm39)	N157S	probably benign	Het
Arhgap29	T	C	3: 121,797,920 (GRCm39)	F537L	probably benign	Het
Asic1	A	C	15: 99,590,657 (GRCm39)	T136P	probably damaging	Het
Atg2b	T	C	12: 105,605,561 (GRCm39)	Y1468C	probably benign	Het
Atm	A	G	9: 53,427,817 (GRCm39)	L431P	probably damaging	Het
Atosb	T	C	4: 43,036,050 (GRCm39)	H227R	probably damaging	Het
Btaf1	A	G	19: 36,922,646 (GRCm39)	T17A	probably benign	Het
Car10	A	G	11: 93,195,367 (GRCm39)	N58S	probably benign	Het
Cd79b	A	T	11: 106,202,845 (GRCm39)	D252E	probably damaging	Het
Cdipt	C	T	7: 126,576,202 (GRCm39)		probably benign	Het
Cebpe	T	C	14: 54,949,165 (GRCm39)	D84G	probably damaging	Het
Cenpj	T	C	14: 56,790,453 (GRCm39)	E532G	probably benign	Het
Cherp	A	G	8: 73,216,920 (GRCm39)		probably null	Het
Clec1b	C	T	6: 129,374,603 (GRCm39)	T9I	probably benign	Het
Clspn	G	T	4: 126,458,756 (GRCm39)	A280S	possibly damaging	Het
Cts3	T	G	13: 61,712,799 (GRCm39)	Y307S	probably benign	Het
Cyp2c39	T	C	19: 39,556,493 (GRCm39)	M443T	possibly damaging	Het
Dhx57	C	T	17: 80,582,447 (GRCm39)	R386H	probably damaging	Het
Dhx58	A	T	11: 100,592,133 (GRCm39)	M305K	probably benign	Het
Dlgap3	T	C	4: 127,129,287 (GRCm39)	L894P	probably damaging	Het
Dnah3	A	T	7: 119,574,299 (GRCm39)	N2164K	probably damaging	Het
Dnajb14	A	G	3: 137,608,044 (GRCm39)	N183S	probably benign	Het
Drd5	G	T	5: 38,478,090 (GRCm39)	R361L	probably damaging	Het
Duoxa1	T	C	2: 122,135,622 (GRCm39)	E159G	probably damaging	Het
Exoc1	T	A	5: 76,711,079 (GRCm39)	S659R	probably benign	Het
Fbln7	T	C	2: 128,719,314 (GRCm39)	I37T	probably benign	Het
Fcgrt	T	G	7: 44,744,853 (GRCm39)	E205A	possibly damaging	Het
Fcho2	A	T	13: 98,900,202 (GRCm39)	S304T	probably damaging	Het
Gbp9	C	A	5: 105,253,587 (GRCm39)	G43*	probably null	Het
Gucy2d	A	G	7: 98,123,868 (GRCm39)	K151R	probably benign	Het
Heatr4	T	A	12: 84,024,829 (GRCm39)	I331F	probably damaging	Het
Hmcn1	G	A	1: 150,485,378 (GRCm39)	T4408I	probably damaging	Het
Hoxc9	C	T	15: 102,890,551 (GRCm39)	T156M	probably benign	Het
Hrnr	A	T	3: 93,227,987 (GRCm39)	E35V	probably damaging	Het
Idua	C	T	5: 108,818,037 (GRCm39)	Q70*	probably null	Het
Klf5	A	T	14: 99,539,189 (GRCm39)	I201F	probably damaging	Het
Lonrf1	T	C	8: 36,701,164 (GRCm39)	K349E	probably damaging	Het
Lrp1b	A	T	2: 41,158,395 (GRCm39)	D1721E		Het
Mdh1	T	A	11: 21,521,870 (GRCm39)		probably benign	Het
Mllt11	T	C	3: 95,127,521 (GRCm39)	H83R	probably benign	Het
Mrgprb4	A	C	7: 47,848,583 (GRCm39)	I115S	possibly damaging	Het
Mrpl38	A	G	11: 116,023,296 (GRCm39)	F319S	probably damaging	Het
Naif1	A	T	2: 32,344,907 (GRCm39)	M204L	probably benign	Het
Ncan	T	A	8: 70,554,628 (GRCm39)	D1063V	probably damaging	Het
Noto	A	T	6: 85,401,327 (GRCm39)	R119W	possibly damaging	Het
Or4c115	G	A	2: 88,927,573 (GRCm39)	L233F	probably benign	Het
Or51h7	A	T	7: 102,591,165 (GRCm39)	D206E	probably damaging	Het
Or6c69	T	A	10: 129,748,048 (GRCm39)	Y33F	probably damaging	Het
Or8b3	A	T	9: 38,314,841 (GRCm39)	I224F	probably damaging	Het
Ovch2	A	G	7: 107,393,584 (GRCm39)	W181R	probably damaging	Het
Palm	G	C	10: 79,655,117 (GRCm39)	G292R	probably damaging	Het
Pdgfrb	T	A	18: 61,205,787 (GRCm39)	L591*	probably null	Het
Pik3c2g	T	C	6: 139,841,910 (GRCm39)	S772P		Het
Prx	C	A	7: 27,217,411 (GRCm39)	D776E	probably benign	Het
Ptpra	A	G	2: 130,384,366 (GRCm39)	E562G	possibly damaging	Het
Rbm4b	A	G	19: 4,807,359 (GRCm39)	Y25C	probably damaging	Het
Reln	T	C	5: 22,136,427 (GRCm39)	T2534A	probably benign	Het
Rnf123	T	C	9: 107,954,963 (GRCm39)	S14G	probably benign	Het
Rock2	A	G	12: 17,015,602 (GRCm39)	H833R	probably benign	Het
Rxfp3	A	G	15: 11,037,111 (GRCm39)	V87A	possibly damaging	Het
S100b	G	A	10: 76,092,936 (GRCm39)	G23D	probably damaging	Het
Scn9a	T	A	2: 66,357,002 (GRCm39)	M1100L	probably benign	Het
Septin11	T	A	5: 93,296,266 (GRCm39)	S55T	possibly damaging	Het
Speer4a3	T	C	5: 26,154,829 (GRCm39)	E257G	probably damaging	Het
Sv2b	T	A	7: 74,769,676 (GRCm39)	Q622L	probably benign	Het
Taar7a	T	C	10: 23,868,799 (GRCm39)	D194G	probably benign	Het
Trappc3	T	C	4: 126,169,014 (GRCm39)	I168T	probably benign	Het
Trim27	T	C	13: 21,374,296 (GRCm39)		probably null	Het
Wdr49	G	A	3: 75,304,359 (GRCm39)	T109I	probably benign	Het
Wdr64	T	C	1: 175,544,854 (GRCm39)	Y96H	probably damaging	Het
Zfp219	A	T	14: 52,247,049 (GRCm39)	L26Q	probably damaging	Het
Zfp758	T	A	17: 22,593,829 (GRCm39)	V105D	possibly damaging	Het
Zfp975	C	G	7: 42,312,332 (GRCm39)	E94Q	possibly damaging	Het
Zfyve9	C	T	4: 108,539,334 (GRCm39)	A289T	probably benign	Het
Zscan5b	T	C	7: 6,234,525 (GRCm39)	S184P	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
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

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