Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Nfkb1'

595545

Institutional Source

Beutler Lab

Gene Symbol

Nfkb1

Ensembl Gene

ENSMUSG00000028163

Gene Name

nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105

Synonyms

p50 subunit of NF kappaB, nuclear factor kappaB p50, NF-kappaB, NF-kappaB p50, p50, p50/p105, NF kappaB1

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_008689.2; MGI: 97312

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135584655-135691547 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 135585401 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 957 (M957R)

Ref Sequence

ENSEMBL: ENSMUSP00000029812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029812] [ENSMUST00000164430] [ENSMUST00000196469]

AlphaFold

P25799

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029812
AA Change: M957R

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029812
Gene: ENSMUSG00000028163
AA Change: M957R

Domain	Start	End	E-Value	Type
Pfam:RHD	42	240	2.9e-75	PFAM
IPT	247	348	1.14e-22	SMART
low complexity region	368	414	N/A	INTRINSIC
ANK	538	568	2.27e1	SMART
ANK	577	606	1.11e-2	SMART
ANK	610	640	2.47e0	SMART
ANK	646	675	5.53e-3	SMART
ANK	680	710	1.9e-1	SMART
ANK	714	743	2.18e-1	SMART
DEATH	801	888	1.9e-19	SMART
low complexity region	890	902	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132668

SMART Domains

Protein: ENSMUSP00000114798
Gene: ENSMUSG00000028163

Domain	Start	End	E-Value	Type
low complexity region	8	54	N/A	INTRINSIC
Blast:IPT	55	156	4e-22	BLAST
ANK	178	208	2.27e1	SMART
ANK	217	246	1.11e-2	SMART
ANK	250	280	2.47e0	SMART
ANK	286	315	5.53e-3	SMART
ANK	320	350	1.9e-1	SMART
ANK	354	383	2.18e-1	SMART
Blast:DEATH	441	505	1e-34	BLAST
PDB:2DBF\|A	442	505	5e-32	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164430
AA Change: M957R

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000128345
Gene: ENSMUSG00000028163
AA Change: M957R

Domain	Start	End	E-Value	Type
Pfam:RHD_DNA_bind	42	240	2.9e-75	PFAM
IPT	247	348	1.14e-22	SMART
low complexity region	368	414	N/A	INTRINSIC
ANK	538	568	2.27e1	SMART
ANK	577	606	1.11e-2	SMART
ANK	610	640	2.47e0	SMART
ANK	646	675	5.53e-3	SMART
ANK	680	710	1.9e-1	SMART
ANK	714	743	2.18e-1	SMART
DEATH	801	888	1.9e-19	SMART
low complexity region	890	902	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184550

Predicted Effect

probably benign
Transcript: ENSMUST00000196469

SMART Domains

Protein: ENSMUSP00000143601
Gene: ENSMUSG00000028163

Domain	Start	End	E-Value	Type
Pfam:RHD_DNA_bind	42	90	2.5e-19	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

MGI Phenotype

Strain: 1857225
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous null mice have a decreased survivor rate, abnormal T cell development and decreased number of peripheral T cells, abnormal humoral responses with decreased immunoglobulin class switching, exhibit mild organ inflammation, and are susceptible toboth bacterial infections and hearing loss. [provided by MGI curators]

Allele List at MGI

All alleles(79) : Targeted(5) Gene trapped(74)

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	A	6: 41,033,193	R69L	probably benign	Het
Adamts5	A	T	16: 85,899,966	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,870,011	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,545,275	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,225,187	F118Y	probably benign	Het
Bcl6	A	G	16: 23,971,413		probably null	Het
Cc2d2b	T	A	19: 40,756,530	L31Q	probably benign	Het
Cd5l	G	T	3: 87,367,855	E234*	probably null	Het
Cfap65	T	C	1: 74,926,625	T409A	probably benign	Het
Chst5	A	T	8: 111,890,925	I21N	probably benign	Het
Cldn20	T	C	17: 3,532,755	Y68H	probably benign	Het
Col4a4	T	C	1: 82,528,793	M269V	unknown	Het
Dgkh	A	G	14: 78,595,145		probably null	Het
Dpp6	A	G	5: 27,451,244	T166A	probably benign	Het
Drosha	A	G	15: 12,881,645	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,854,273	K350N	probably damaging	Het
Fsd1	T	G	17: 55,988,150	D46E	probably benign	Het
Gabra1	T	C	11: 42,133,591	D419G	probably damaging	Het
Golga4	T	A	9: 118,548,702	D458E	probably damaging	Het
Grm6	C	A	11: 50,851,542	A134E	probably benign	Het
Ikzf1	T	A	11: 11,748,339	S63R	probably damaging	Het
Ilvbl	G	A	10: 78,576,666	V74I	probably benign	Het
Kcng2	C	T	18: 80,296,090	V328M	probably benign	Het
Kpna7	T	C	5: 145,005,045	E145G	probably benign	Het
Krt81	A	G	15: 101,459,567	V428A	probably damaging	Het
Lalba	T	C	15: 98,482,668	M2V	probably benign	Het
Lrpprc	T	C	17: 84,776,947	S113G	probably benign	Het
Mboat1	A	C	13: 30,226,306	M249L	probably benign	Het
Meltf	T	C	16: 31,883,794	V113A	probably damaging	Het
Muc16	T	A	9: 18,660,242	H327L	unknown	Het
Myh1	A	G	11: 67,215,922	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Naga	C	A	15: 82,330,147	V388L	probably benign	Het
Nol12	C	A	15: 78,940,593	S157*	probably null	Het
Olfr1000	A	G	2: 85,608,407	F168L	possibly damaging	Het
Olfr1038-ps	A	T	2: 86,122,496	D191V	possibly damaging	Het
Olfr272	A	G	4: 52,911,368	V142A	possibly damaging	Het
Pcdhga5	T	C	18: 37,695,045	V182A	probably benign	Het
Pik3r4	A	G	9: 105,669,882	E953G	probably damaging	Het
Piwil2	C	T	14: 70,394,057	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,944,109	H157R	probably damaging	Het
Prrg4	A	T	2: 104,839,378	F131L	probably benign	Het
Rab28	A	G	5: 41,707,970	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,455,438	Q209K	probably benign	Het
Schip1	G	A	3: 68,064,984	D15N	probably benign	Het
Serpina3f	T	G	12: 104,218,218	M207R	probably benign	Het
Sgsm1	A	T	5: 113,274,327	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 61,989,580	I471F	probably benign	Het
Slamf1	G	A	1: 171,774,899	V65I	possibly damaging	Het
Slit3	T	C	11: 35,684,044	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,373,434	K344N	probably damaging	Het
Sorl1	A	G	9: 41,984,526	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,215,675	R228C	probably damaging	Het
Sv2c	A	G	13: 95,976,695	I582T	possibly damaging	Het
Tamm41	C	T	6: 115,016,178	V205M	probably damaging	Het
Tmem2	C	T	19: 21,829,957	L917F	probably benign	Het
Trpm2	T	C	10: 77,925,789	D1009G	probably benign	Het
Trpm6	T	C	19: 18,854,249	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,839,274	V147I	possibly damaging	Het
Uba2	C	T	7: 34,150,850	A393T	probably damaging	Het
Ubn2	T	A	6: 38,463,938	N416K	probably benign	Het
Uevld	T	C	7: 46,943,805	N233S	probably benign	Het
Upp2	G	A	2: 58,774,148	M142I	possibly damaging	Het
Vps52	T	A	17: 33,962,134	V450D	probably benign	Het
Wdr31	A	T	4: 62,460,636	F118Y	probably damaging	Het
Zcchc6	A	G	13: 59,799,682	F942L	probably benign	Het
Zfp110	T	A	7: 12,848,995	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,145,643	V143D	probably damaging	Het
Zfp950	T	C	19: 61,119,941	I235V	probably benign	Het

Other mutations in Nfkb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Nfkb1	APN	3	135590839	missense	probably damaging	1.00
IGL01345:Nfkb1	APN	3	135594981	missense	probably damaging	1.00
IGL01629:Nfkb1	APN	3	135601467	missense	probably benign
IGL02216:Nfkb1	APN	3	135594963	missense	probably damaging	0.98
IGL02273:Nfkb1	APN	3	135605207	missense	probably benign	0.01
IGL02508:Nfkb1	APN	3	135590818	missense	probably damaging	0.99
IGL03095:Nfkb1	APN	3	135618830	missense	possibly damaging	0.48
Conversely	UTSW	3	135626659	missense	probably damaging	1.00
Finlay	UTSW	3	135595053	nonsense	probably null
Frisbee	UTSW	3	135613943	missense	possibly damaging	0.93
Honeyeater	UTSW	3	135591551	splice site	probably benign
kookaburra	UTSW	3	135626611	nonsense	probably null
Murgatroyd	UTSW	3	135626710	missense	possibly damaging	0.72
Poderoso	UTSW	3	135613990	missense	probably damaging	1.00
Puff	UTSW	3	135595053	nonsense	probably null
Roomba	UTSW	3	135612412	critical splice donor site	probably null
Wheelo	UTSW	3	135615349	missense	possibly damaging	0.81
R0026:Nfkb1	UTSW	3	135591573	missense	probably damaging	1.00
R0047:Nfkb1	UTSW	3	135595053	nonsense	probably null
R0989:Nfkb1	UTSW	3	135589396	missense	probably benign	0.00
R1210:Nfkb1	UTSW	3	135594927	missense	probably benign	0.03
R1661:Nfkb1	UTSW	3	135594957	missense	probably damaging	1.00
R1665:Nfkb1	UTSW	3	135594957	missense	probably damaging	1.00
R1725:Nfkb1	UTSW	3	135667758	missense	probably damaging	1.00
R1984:Nfkb1	UTSW	3	135615349	missense	possibly damaging	0.81
R1985:Nfkb1	UTSW	3	135615349	missense	possibly damaging	0.81
R2154:Nfkb1	UTSW	3	135601479	missense	probably benign	0.44
R2281:Nfkb1	UTSW	3	135601521	missense	probably damaging	1.00
R2409:Nfkb1	UTSW	3	135613943	missense	possibly damaging	0.93
R2504:Nfkb1	UTSW	3	135589329	missense	possibly damaging	0.51
R4032:Nfkb1	UTSW	3	135594349	missense	possibly damaging	0.63
R4232:Nfkb1	UTSW	3	135603770	missense	probably damaging	1.00
R4936:Nfkb1	UTSW	3	135613982	missense	probably damaging	0.97
R5085:Nfkb1	UTSW	3	135603807	missense	probably benign	0.36
R5262:Nfkb1	UTSW	3	135612412	critical splice donor site	probably null
R5384:Nfkb1	UTSW	3	135612542	missense	possibly damaging	0.95
R5385:Nfkb1	UTSW	3	135612542	missense	possibly damaging	0.95
R5434:Nfkb1	UTSW	3	135626611	nonsense	probably null
R5663:Nfkb1	UTSW	3	135603851	missense	possibly damaging	0.88
R5865:Nfkb1	UTSW	3	135603780	missense	probably damaging	1.00
R6006:Nfkb1	UTSW	3	135603761	nonsense	probably null
R6013:Nfkb1	UTSW	3	135626684	missense	possibly damaging	0.86
R6234:Nfkb1	UTSW	3	135626710	missense	possibly damaging	0.72
R6785:Nfkb1	UTSW	3	135615303	missense	probably benign
R7175:Nfkb1	UTSW	3	135613990	missense	probably damaging	1.00
R7227:Nfkb1	UTSW	3	135626659	missense	probably damaging	1.00
R7394:Nfkb1	UTSW	3	135613697	missense	possibly damaging	0.54
R7815:Nfkb1	UTSW	3	135603791	missense	probably damaging	1.00
R7849:Nfkb1	UTSW	3	135585412	missense
R8004:Nfkb1	UTSW	3	135591551	splice site	probably benign
R8059:Nfkb1	UTSW	3	135593852	missense	possibly damaging	0.54
R8806:Nfkb1	UTSW	3	135589452	missense	probably damaging	1.00
R9169:Nfkb1	UTSW	3	135605113	missense	probably benign	0.00
X0050:Nfkb1	UTSW	3	135606623	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCGTGGCAACTACATTTCATTTC -3'
(R):5'- AACAAAGCCCTTGCCATGG -3'

Sequencing Primer
(F):5'- CCTTGAATGAAATCGAGTGACCCTG -3'
(R):5'- TGCCATGGCCTAACTCAGC -3'

Posted On

2019-11-12