Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02342:Nfkbib'

289155

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nfkbib

Ensembl Gene

ENSMUSG00000030595

Gene Name

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

Synonyms

IkB, IKappaBbeta

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

IGL02342

Quality Score

Status

Chromosome

Chromosomal Location

28457676-28466069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 28461528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 70 (H70N)

Ref Sequence

ENSEMBL: ENSMUSP00000117769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032815] [ENSMUST00000072965] [ENSMUST00000085851] [ENSMUST00000122915] [ENSMUST00000137121] [ENSMUST00000170068] [ENSMUST00000178767]

AlphaFold

Q60778

Predicted Effect

probably damaging
Transcript: ENSMUST00000032815
AA Change: H70N

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

SMART Domains

Protein: ENSMUSP00000032815
Gene: ENSMUSG00000030595
AA Change: H70N

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: H70N

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

SMART Domains

Protein: ENSMUSP00000083012
Gene: ENSMUSG00000030595
AA Change: H70N

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: H70N

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

SMART Domains

Protein: ENSMUSP00000117769
Gene: ENSMUSG00000030595
AA Change: H70N

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000178767

SMART Domains

Protein: ENSMUSP00000137487
Gene: ENSMUSG00000096257

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	105	117	N/A	INTRINSIC
coiled coil region	129	151	N/A	INTRINSIC
low complexity region	206	215	N/A	INTRINSIC
coiled coil region	228	270	N/A	INTRINSIC

Coding Region Coverage

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	C	A	10: 43,050,997 (GRCm39)	P97Q	probably damaging	Het
Abcb10	A	T	8: 124,688,773 (GRCm39)	V501E	probably damaging	Het
Acsf3	T	C	8: 123,544,237 (GRCm39)	Y572H	probably benign	Het
Adamts3	A	T	5: 89,839,332 (GRCm39)		probably null	Het
Alox8	A	G	11: 69,077,053 (GRCm39)	L480P	probably damaging	Het
Arhgap35	G	A	7: 16,296,305 (GRCm39)	T920I	probably benign	Het
Brca2	C	A	5: 150,466,289 (GRCm39)	L2018M	possibly damaging	Het
Brdt	C	A	5: 107,490,069 (GRCm39)	H45N	probably damaging	Het
C1s2	A	G	6: 124,609,075 (GRCm39)	F155L	probably damaging	Het
Ccser2	A	G	14: 36,640,562 (GRCm39)		probably benign	Het
Cd8a	T	A	6: 71,350,723 (GRCm39)	C63S	probably damaging	Het
Clk2	A	T	3: 89,082,998 (GRCm39)	T424S	probably benign	Het
Cntn1	A	G	15: 92,143,898 (GRCm39)	E287G	probably benign	Het
Cobl	A	C	11: 12,203,672 (GRCm39)	V928G	possibly damaging	Het
Col12a1	A	G	9: 79,557,178 (GRCm39)		probably null	Het
Crnkl1	A	T	2: 145,766,633 (GRCm39)		probably null	Het
Defb26	T	C	2: 152,350,121 (GRCm39)	N53S	possibly damaging	Het
Duox1	A	T	2: 122,177,793 (GRCm39)	T1526S	probably damaging	Het
Dync2h1	A	G	9: 7,142,246 (GRCm39)	L1233P	probably damaging	Het
Eif5a2	A	G	3: 28,847,910 (GRCm39)	E116G	possibly damaging	Het
Garin1b	A	G	6: 29,323,829 (GRCm39)	T185A	possibly damaging	Het
Gdap2	G	A	3: 100,085,632 (GRCm39)	A185T	probably damaging	Het
Grm8	T	C	6: 27,363,803 (GRCm39)	R571G	probably benign	Het
Hjv	G	A	3: 96,435,488 (GRCm39)	D249N	possibly damaging	Het
Hsp90b1	T	C	10: 86,531,603 (GRCm39)		probably null	Het
Ift70a1	G	T	2: 75,810,976 (GRCm39)	T369K	probably benign	Het
Ighv1-75	T	G	12: 115,797,878 (GRCm39)		probably benign	Het
Ikzf1	A	G	11: 11,650,216 (GRCm39)		probably benign	Het
Itprid2	A	G	2: 79,490,629 (GRCm39)	N943S	probably benign	Het
Kdm4d	A	G	9: 14,374,860 (GRCm39)	W333R	probably damaging	Het
Lama3	A	T	18: 12,624,533 (GRCm39)	N1426I	probably damaging	Het
Lmbrd1	A	G	1: 24,743,959 (GRCm39)	Y119C	probably damaging	Het
Mctp1	A	G	13: 77,172,976 (GRCm39)	Y884C	probably damaging	Het
Naip6	G	T	13: 100,439,748 (GRCm39)	P340T	possibly damaging	Het
Nol4	A	T	18: 22,903,926 (GRCm39)		probably benign	Het
Obscn	C	T	11: 58,891,914 (GRCm39)	A6873T	probably benign	Het
Or2ag1	A	G	7: 106,313,232 (GRCm39)	S219P	probably benign	Het
Or51b4	T	A	7: 103,530,587 (GRCm39)	I288F	probably benign	Het
Or6x1	T	A	9: 40,098,823 (GRCm39)	N137K	probably benign	Het
Paqr6	A	G	3: 88,273,491 (GRCm39)	Y136C	probably damaging	Het
Pcdh18	T	A	3: 49,710,493 (GRCm39)	D274V	probably damaging	Het
Phip	A	G	9: 82,768,745 (GRCm39)	Y1196H	probably damaging	Het
Prc1	T	C	7: 79,959,190 (GRCm39)	L345S	probably damaging	Het
Smpdl3a	A	G	10: 57,685,276 (GRCm39)		probably benign	Het
Tac1	G	T	6: 7,559,119 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,198,624 (GRCm39)	S1319T	possibly damaging	Het
Tg	A	G	15: 66,636,140 (GRCm39)	T576A	probably benign	Het
Thbs2	A	T	17: 14,896,578 (GRCm39)	D770E	probably damaging	Het
Tmem117	T	C	15: 94,909,331 (GRCm39)	V248A	possibly damaging	Het
Trpm8	T	C	1: 88,255,972 (GRCm39)	I209T	possibly damaging	Het
Wrap53	A	G	11: 69,454,417 (GRCm39)	F244L	probably damaging	Het
Wrap73	A	T	4: 154,233,237 (GRCm39)	Q137L	probably benign	Het
Zfhx4	A	T	3: 5,467,434 (GRCm39)	T2531S	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
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
R9436:Nfkbib	UTSW	7	28,465,800 (GRCm39)	missense	probably damaging	1.00
R9438:Nfkbib	UTSW	7	28,459,654 (GRCm39)	missense	probably damaging	1.00
R9630:Nfkbib	UTSW	7	28,461,304 (GRCm39)	nonsense	probably null

Posted On

2015-04-16