Mutagenetix > Incidental Mutation

Incidental Mutation 'R9436:Nfkbib'

713282

Institutional Source

Beutler Lab

Gene Symbol

Nfkbib

Ensembl Gene

ENSMUSG00000030595

Gene Name

nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, beta

Synonyms

IkB, IKappaBbeta

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R9436 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28457676-28466069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 28465800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Cysteine at position 16 (W16C)

Ref Sequence

ENSEMBL: ENSMUSP00000032815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032815] [ENSMUST00000072965] [ENSMUST00000085851] [ENSMUST00000122915] [ENSMUST00000137121] [ENSMUST00000155327] [ENSMUST00000170068]

AlphaFold

Q60778

PDB Structure

X-ray crystal structure of the IkBb/NF-kB p65 homodimer complex [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF AN IKBBETA/NF-KB P65 HOMODIMER COMPLEX [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000032815
AA Change: W16C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032815
Gene: ENSMUSG00000030595
AA Change: W16C

Domain	Start	End	E-Value	Type
low complexity region	19	45	N/A	INTRINSIC
ANK	57	86	4.13e-2	SMART
ANK	93	122	1.6e1	SMART
ANK	126	155	5.98e1	SMART
low complexity region	183	191	N/A	INTRINSIC
ANK	206	235	5.12e-7	SMART
ANK	240	269	1.76e-5	SMART
ANK	273	303	1.37e2	SMART
low complexity region	305	327	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072965

SMART Domains

Protein: ENSMUSP00000072732
Gene: ENSMUSG00000015149

Domain	Start	End	E-Value	Type
low complexity region	22	37	N/A	INTRINSIC
Pfam:SIR2	84	268	2.6e-60	PFAM
low complexity region	297	307	N/A	INTRINSIC
low complexity region	373	387	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000085851
AA Change: W16C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083012
Gene: ENSMUSG00000030595
AA Change: W16C

Domain	Start	End	E-Value	Type
low complexity region	19	45	N/A	INTRINSIC
ANK	57	86	4.13e-2	SMART
ANK	93	122	1.6e1	SMART
ANK	126	155	5.98e1	SMART
low complexity region	183	191	N/A	INTRINSIC
ANK	206	235	5.12e-7	SMART
ANK	240	269	1.76e-5	SMART
ANK	273	303	1.37e2	SMART
low complexity region	305	327	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122915

Predicted Effect

probably damaging
Transcript: ENSMUST00000137121
AA Change: W16C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117769
Gene: ENSMUSG00000030595
AA Change: W16C

Domain	Start	End	E-Value	Type
low complexity region	19	45	N/A	INTRINSIC
ANK	57	86	4.13e-2	SMART
ANK	93	122	1.6e1	SMART
ANK	126	151	2.15e3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155327

Predicted Effect

probably benign
Transcript: ENSMUST00000170068

SMART Domains

Protein: ENSMUSP00000132783
Gene: ENSMUSG00000015149

Domain	Start	End	E-Value	Type
Pfam:SIR2	14	198	3.8e-61	PFAM
low complexity region	227	237	N/A	INTRINSIC
low complexity region	303	317	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes an inhibitor of nuclear factor kappa-light-chain-enhancer of activated B cells (NF-kappaB). The encoded protein prevents NF-kappaB-mediated transcription activation by sequestering it in the cytosol. In response to signals that induce NF-kappaB, such as cytokines and growth factors, the encoded protein undergoes phosphorylation, triggering its rapid ubiquitination and proteasomal degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit decreased susceptibility to endotoxin shock and induced arthritis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	G	19: 31,909,975 (GRCm39)	T340A	probably benign	Het
Adamts2	G	T	11: 50,694,507 (GRCm39)	R1098L	probably benign	Het
Add1	A	T	5: 34,763,273 (GRCm39)	R154*	probably null	Het
Alpk1	A	G	3: 127,478,924 (GRCm39)	V41A		Het
Anapc1	T	C	2: 128,518,045 (GRCm39)	T270A	probably benign	Het
Ankhd1	C	A	18: 36,694,041 (GRCm39)	A84D	probably benign	Het
Ankhd1	T	A	18: 36,774,654 (GRCm39)	C1412S	probably benign	Het
Ccdc93	C	T	1: 121,369,584 (GRCm39)	Q109*	probably null	Het
Chrm5	T	C	2: 112,309,824 (GRCm39)	R431G	possibly damaging	Het
Clxn	T	A	16: 14,735,541 (GRCm39)	C84*	probably null	Het
Dnah14	A	C	1: 181,508,348 (GRCm39)	E1842A	probably damaging	Het
Dync1h1	T	C	12: 110,582,975 (GRCm39)	L386P	probably damaging	Het
Eme1	G	A	11: 94,538,507 (GRCm39)	Q393*	probably null	Het
Hinfp	A	T	9: 44,209,276 (GRCm39)	Y308N	probably damaging	Het
Hnrnph3	T	A	10: 62,854,627 (GRCm39)	R55*	probably null	Het
Ifi44	T	C	3: 151,454,886 (GRCm39)	D113G	probably benign	Het
Katnal1	A	T	5: 148,815,761 (GRCm39)	L392H	probably damaging	Het
Kcnk12	C	A	17: 88,104,880 (GRCm39)	M1I	probably null	Het
Krt17	T	A	11: 100,148,325 (GRCm39)	D372V	probably damaging	Het
Mrtfb	T	A	16: 13,223,151 (GRCm39)	Y796*	probably null	Het
Myo3a	T	A	2: 22,412,235 (GRCm39)	Y751*	probably null	Het
Ndrg3	C	A	2: 156,782,276 (GRCm39)		probably null	Het
Nlrp14	T	C	7: 106,781,106 (GRCm39)	V101A	probably benign	Het
Npy5r	A	G	8: 67,133,483 (GRCm39)	S437P	probably damaging	Het
Or6c75	T	C	10: 129,336,969 (GRCm39)	F64S	probably damaging	Het
Pcdhga3	G	A	18: 37,808,144 (GRCm39)	R199H	probably damaging	Het
Pi4ka	T	A	16: 17,125,670 (GRCm39)	H1155L		Het
Rbp3	A	G	14: 33,677,234 (GRCm39)	D394G	possibly damaging	Het
Rnmt	T	A	18: 68,442,410 (GRCm39)	V180E	probably damaging	Het
Rpl3l	A	T	17: 24,947,300 (GRCm39)	K5*	probably null	Het
Rps6ka1	A	T	4: 133,575,963 (GRCm39)	V652E	probably damaging	Het
Slc7a1	A	T	5: 148,270,730 (GRCm39)	W579R	probably damaging	Het
Smr2l	A	G	5: 88,430,257 (GRCm39)	D51G	possibly damaging	Het
Smyd4	T	A	11: 75,293,017 (GRCm39)	L649Q	probably damaging	Het
Snx19	A	G	9: 30,374,602 (GRCm39)	R954G	possibly damaging	Het
Sp4	T	C	12: 118,202,000 (GRCm39)	E744G	possibly damaging	Het
Spag16	C	T	1: 69,892,539 (GRCm39)	L107F	probably damaging	Het
Stk36	A	G	1: 74,650,272 (GRCm39)	D268G	probably benign	Het
Tat	G	T	8: 110,718,492 (GRCm39)	G85W	probably damaging	Het
Tchp	G	T	5: 114,847,446 (GRCm39)	E88D	probably benign	Het
Tmem132b	A	G	5: 125,775,633 (GRCm39)	N369S	possibly damaging	Het
Tmf1	T	C	6: 97,153,617 (GRCm39)	D152G	probably benign	Het
Ttc7	T	C	17: 87,600,320 (GRCm39)	Y145H	possibly damaging	Het
Ttn	T	C	2: 76,772,263 (GRCm39)	I2592M	unknown	Het
Unc80	T	G	1: 66,732,964 (GRCm39)		probably null	Het
Vmn2r26	T	C	6: 124,002,826 (GRCm39)	Y79H	probably damaging	Het
Whamm	G	T	7: 81,221,063 (GRCm39)		probably benign	Het
Zfp184	A	G	13: 22,133,898 (GRCm39)	I48M	probably benign	Het
Zfp974	A	T	7: 27,611,094 (GRCm39)	F210L	probably benign	Het

Other mutations in Nfkbib

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01822:Nfkbib	APN	7	28,461,134 (GRCm39)	missense	probably benign	0.00
IGL02006:Nfkbib	APN	7	28,465,667 (GRCm39)	critical splice donor site	probably null
IGL02327:Nfkbib	APN	7	28,458,568 (GRCm39)	missense	probably benign	0.14
IGL02342:Nfkbib	APN	7	28,461,528 (GRCm39)	missense	probably damaging	1.00
IGL02610:Nfkbib	APN	7	28,459,274 (GRCm39)	missense	probably damaging	0.99
R0574:Nfkbib	UTSW	7	28,461,213 (GRCm39)	missense	probably benign	0.28
R1470:Nfkbib	UTSW	7	28,461,447 (GRCm39)	splice site	probably null
R1730:Nfkbib	UTSW	7	28,461,480 (GRCm39)	missense	probably damaging	1.00
R1783:Nfkbib	UTSW	7	28,461,480 (GRCm39)	missense	probably damaging	1.00
R4902:Nfkbib	UTSW	7	28,461,173 (GRCm39)	nonsense	probably null
R7291:Nfkbib	UTSW	7	28,458,628 (GRCm39)	missense	possibly damaging	0.62
R7297:Nfkbib	UTSW	7	28,465,768 (GRCm39)	missense	probably benign	0.07
R7890:Nfkbib	UTSW	7	28,461,512 (GRCm39)	missense	probably damaging	1.00
R7923:Nfkbib	UTSW	7	28,465,688 (GRCm39)	missense	probably damaging	0.99
R9438:Nfkbib	UTSW	7	28,459,654 (GRCm39)	missense	probably damaging	1.00
R9630:Nfkbib	UTSW	7	28,461,304 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAAGATCCCAGGGCTCAGTC -3'
(R):5'- AACTCAGCGAGCGAATGTCC -3'

Sequencing Primer
(F):5'- CCAGGGCTCAGTCTAGTAATTTAAGG -3'
(R):5'- GCGGGGTGTAGCTATTTAAAAC -3'

Posted On

2022-05-16