Incidental Mutation 'R2409:Nfkb1'
ID 248117
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, p50/p105, NF-kappaB, nuclear factor kappaB p50, NF kappaB1, p50 subunit of NF kappaB, NF-kappaB p50
MMRRC Submission 040375-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2409 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 135290416-135397308 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 135319704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 264 (E264K)
Ref Sequence ENSEMBL: ENSMUSP00000128345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029812] [ENSMUST00000164430] [ENSMUST00000196469]
AlphaFold P25799
PDB Structure STRUCTURE OF NF-KB P50 HOMODIMER BOUND TO A KB SITE [X-RAY DIFFRACTION]
IKAPPABALPHA/NF-KAPPAB COMPLEX [X-RAY DIFFRACTION]
Crystal structure of a NF-kB heterodimer bound to an IFNb-kB [X-RAY DIFFRACTION]
Crystal structure of a NF-kB heterodimer bound to the Ig/HIV-kB siti [X-RAY DIFFRACTION]
The kB DNA sequence from the HLV-LTR functions as an allosteric regulator of HIV transcription [X-RAY DIFFRACTION]
STRUCTURE OF THE NUCLEAR FACTOR KAPPA-B (NF-KB) P50 HOMODIMER [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF NF-kB(p50)2 COMPLEXED TO A HIGH-AFFINITY RNA APTAMER [X-RAY DIFFRACTION]
Crystal stucture of WLAC mutant of dimerisation domain of NF-kB p50 transcription factor [X-RAY DIFFRACTION]
Crystal stucture of MLAV mutant of dimerisation domain of NF-kB p50 transcription factor [X-RAY DIFFRACTION]
Crystal stucture of ILAC mutant of dimerisation domain of NF-kB p50 transcription factor [X-RAY DIFFRACTION]
>> 7 additional structures at PDB <<
Predicted Effect possibly damaging
Transcript: ENSMUST00000029812
AA Change: E264K

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029812
Gene: ENSMUSG00000028163
AA Change: E264K

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000138602
Predicted Effect possibly damaging
Transcript: ENSMUST00000164430
AA Change: E264K

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128345
Gene: ENSMUSG00000028163
AA Change: E264K

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000196246
Predicted Effect probably benign
Transcript: ENSMUST00000196469
SMART Domains Protein: ENSMUSP00000143601
Gene: ENSMUSG00000028163

DomainStartEndE-ValueType
Pfam:RHD_DNA_bind 42 90 2.5e-19 PFAM
Meta Mutation Damage Score 0.7134 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 100% (32/32)
MGI Phenotype 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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a C T 5: 8,788,747 (GRCm39) T1042I probably benign Het
Adamts13 A G 2: 26,868,374 (GRCm39) T162A probably benign Het
Adamts7 T A 9: 90,062,740 (GRCm39) I398N probably damaging Het
Cib2 A G 9: 54,452,751 (GRCm39) probably null Het
Cyp3a16 T C 5: 145,377,177 (GRCm39) K470R probably benign Het
Dpy19l2 A G 9: 24,569,924 (GRCm39) M343T probably benign Het
Dyrk2 A G 10: 118,696,532 (GRCm39) V242A probably benign Het
Extl3 T C 14: 65,315,017 (GRCm39) D55G probably benign Het
Fabp7 A G 10: 57,661,772 (GRCm39) K82E possibly damaging Het
Fat1 G T 8: 45,493,567 (GRCm39) probably benign Het
Gen1 A G 12: 11,299,165 (GRCm39) I280T possibly damaging Het
Gm5117 T C 8: 32,227,306 (GRCm39) noncoding transcript Het
Gucy1b2 CCGTGTTT C 14: 62,643,628 (GRCm39) probably null Het
Il3ra G A 14: 14,349,377 (GRCm38) probably null Het
Myo1f A G 17: 33,795,641 (GRCm39) N66D probably damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or7d10 G T 9: 19,832,072 (GRCm39) R189L probably benign Het
Or7d10 G C 9: 19,832,077 (GRCm39) D191H probably damaging Het
Prdm10 A G 9: 31,260,418 (GRCm39) H624R possibly damaging Het
Rgs5 G T 1: 169,504,451 (GRCm39) V34F possibly damaging Het
Sec14l4 T C 11: 3,990,048 (GRCm39) S116P probably benign Het
Septin1 T C 7: 126,815,143 (GRCm39) probably null Het
Septin9 T A 11: 117,251,287 (GRCm39) I535N probably damaging Het
Sh2b1 C T 7: 126,070,651 (GRCm39) G350D probably damaging Het
Slc6a21 T C 7: 44,929,750 (GRCm39) V107A probably benign Het
Trim26 C A 17: 37,161,895 (GRCm39) H105N probably damaging Het
Trim71 A T 9: 114,342,781 (GRCm39) D500E possibly damaging Het
Vmn2r78 T A 7: 86,569,953 (GRCm39) probably benign Het
Vmn2r84 A G 10: 130,227,940 (GRCm39) S99P probably damaging Het
Other mutations in Nfkb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Nfkb1 APN 3 135,296,600 (GRCm39) missense probably damaging 1.00
IGL01345:Nfkb1 APN 3 135,300,742 (GRCm39) missense probably damaging 1.00
IGL01629:Nfkb1 APN 3 135,307,228 (GRCm39) missense probably benign
IGL02216:Nfkb1 APN 3 135,300,724 (GRCm39) missense probably damaging 0.98
IGL02273:Nfkb1 APN 3 135,310,968 (GRCm39) missense probably benign 0.01
IGL02508:Nfkb1 APN 3 135,296,579 (GRCm39) missense probably damaging 0.99
IGL03095:Nfkb1 APN 3 135,324,591 (GRCm39) missense possibly damaging 0.48
Conversely UTSW 3 135,332,420 (GRCm39) missense probably damaging 1.00
Finlay UTSW 3 135,300,814 (GRCm39) nonsense probably null
Frisbee UTSW 3 135,319,704 (GRCm39) missense possibly damaging 0.93
Honeyeater UTSW 3 135,297,312 (GRCm39) splice site probably benign
kookaburra UTSW 3 135,332,372 (GRCm39) nonsense probably null
Murgatroyd UTSW 3 135,332,471 (GRCm39) missense possibly damaging 0.72
Poderoso UTSW 3 135,319,751 (GRCm39) missense probably damaging 1.00
Puff UTSW 3 135,300,814 (GRCm39) nonsense probably null
Roomba UTSW 3 135,318,173 (GRCm39) critical splice donor site probably null
Wheelo UTSW 3 135,321,110 (GRCm39) missense possibly damaging 0.81
R0026:Nfkb1 UTSW 3 135,297,334 (GRCm39) missense probably damaging 1.00
R0047:Nfkb1 UTSW 3 135,300,814 (GRCm39) nonsense probably null
R0989:Nfkb1 UTSW 3 135,295,157 (GRCm39) missense probably benign 0.00
R1210:Nfkb1 UTSW 3 135,300,688 (GRCm39) missense probably benign 0.03
R1661:Nfkb1 UTSW 3 135,300,718 (GRCm39) missense probably damaging 1.00
R1665:Nfkb1 UTSW 3 135,300,718 (GRCm39) missense probably damaging 1.00
R1725:Nfkb1 UTSW 3 135,373,519 (GRCm39) missense probably damaging 1.00
R1984:Nfkb1 UTSW 3 135,321,110 (GRCm39) missense possibly damaging 0.81
R1985:Nfkb1 UTSW 3 135,321,110 (GRCm39) missense possibly damaging 0.81
R2154:Nfkb1 UTSW 3 135,307,240 (GRCm39) missense probably benign 0.44
R2281:Nfkb1 UTSW 3 135,307,282 (GRCm39) missense probably damaging 1.00
R2504:Nfkb1 UTSW 3 135,295,090 (GRCm39) missense possibly damaging 0.51
R4032:Nfkb1 UTSW 3 135,300,110 (GRCm39) missense possibly damaging 0.63
R4232:Nfkb1 UTSW 3 135,309,531 (GRCm39) missense probably damaging 1.00
R4936:Nfkb1 UTSW 3 135,319,743 (GRCm39) missense probably damaging 0.97
R5085:Nfkb1 UTSW 3 135,309,568 (GRCm39) missense probably benign 0.36
R5262:Nfkb1 UTSW 3 135,318,173 (GRCm39) critical splice donor site probably null
R5384:Nfkb1 UTSW 3 135,318,303 (GRCm39) missense possibly damaging 0.95
R5385:Nfkb1 UTSW 3 135,318,303 (GRCm39) missense possibly damaging 0.95
R5434:Nfkb1 UTSW 3 135,332,372 (GRCm39) nonsense probably null
R5663:Nfkb1 UTSW 3 135,309,612 (GRCm39) missense possibly damaging 0.88
R5865:Nfkb1 UTSW 3 135,309,541 (GRCm39) missense probably damaging 1.00
R6006:Nfkb1 UTSW 3 135,309,522 (GRCm39) nonsense probably null
R6013:Nfkb1 UTSW 3 135,332,445 (GRCm39) missense possibly damaging 0.86
R6234:Nfkb1 UTSW 3 135,332,471 (GRCm39) missense possibly damaging 0.72
R6785:Nfkb1 UTSW 3 135,321,064 (GRCm39) missense probably benign
R7175:Nfkb1 UTSW 3 135,319,751 (GRCm39) missense probably damaging 1.00
R7227:Nfkb1 UTSW 3 135,332,420 (GRCm39) missense probably damaging 1.00
R7394:Nfkb1 UTSW 3 135,319,458 (GRCm39) missense possibly damaging 0.54
R7727:Nfkb1 UTSW 3 135,291,162 (GRCm39) missense possibly damaging 0.48
R7815:Nfkb1 UTSW 3 135,309,552 (GRCm39) missense probably damaging 1.00
R7849:Nfkb1 UTSW 3 135,291,173 (GRCm39) missense
R8004:Nfkb1 UTSW 3 135,297,312 (GRCm39) splice site probably benign
R8059:Nfkb1 UTSW 3 135,299,613 (GRCm39) missense possibly damaging 0.54
R8806:Nfkb1 UTSW 3 135,295,213 (GRCm39) missense probably damaging 1.00
R9169:Nfkb1 UTSW 3 135,310,874 (GRCm39) missense probably benign 0.00
X0050:Nfkb1 UTSW 3 135,312,384 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCAAACGGGCGTATTCAG -3'
(R):5'- GCTCCTAGTACCTTGGAAGTC -3'

Sequencing Primer
(F):5'- CAGGCATGTGATTGCAATGC -3'
(R):5'- AGTACCTTGGAAGTCTTTCTTGC -3'
Posted On 2014-11-11