Incidental Mutation 'R6234:Nfkb1'
ID 504809
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 044399-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6234 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 135290416-135397308 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 135332471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 95 (V95I)
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: V95I

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000029812
Gene: ENSMUSG00000028163
AA Change: V95I

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: V95I

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128345
Gene: ENSMUSG00000028163
AA Change: V95I

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 silent
Transcript: ENSMUST00000196469
SMART Domains Protein: ENSMUSP00000143601
Gene: ENSMUSG00000028163

DomainStartEndE-ValueType
Pfam:RHD_DNA_bind 42 90 2.5e-19 PFAM
Meta Mutation Damage Score 0.5544 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T G 8: 44,078,949 (GRCm39) N425T probably benign Het
Adgb A C 10: 10,228,824 (GRCm39) probably null Het
Aldoart1 A G 4: 72,770,409 (GRCm39) I78T probably damaging Het
Bcl2l2 A G 14: 55,122,245 (GRCm39) D136G probably benign Het
Bltp1 A G 3: 37,037,620 (GRCm39) T2475A probably benign Het
Cd34 A T 1: 194,630,308 (GRCm39) I81F probably damaging Het
Chmp1b T A 18: 67,339,169 (GRCm39) *200R probably null Het
Clic6 T C 16: 92,296,110 (GRCm39) S257P probably benign Het
Cnga4 T G 7: 105,056,906 (GRCm39) Y336* probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Eef1akmt2 T C 7: 132,429,585 (GRCm39) T215A probably damaging Het
Fbrsl1 G A 5: 110,525,917 (GRCm39) T95I probably damaging Het
Fer1l6 T C 15: 58,432,488 (GRCm39) I345T probably damaging Het
Fmn1 T C 2: 113,196,000 (GRCm39) F567L unknown Het
Ftdc1 T A 16: 58,435,034 (GRCm39) D97V probably benign Het
Gabrg1 A T 5: 70,999,484 (GRCm39) L22I probably benign Het
Gfm1 A G 3: 67,342,847 (GRCm39) D127G probably damaging Het
Gm5114 T A 7: 39,058,768 (GRCm39) T284S probably benign Het
Gm9925 A T 18: 74,198,308 (GRCm39) probably benign Het
Hc T C 2: 34,918,058 (GRCm39) I742V probably benign Het
Heatr5a A T 12: 51,924,237 (GRCm39) M1992K possibly damaging Het
Homer3 T C 8: 70,743,815 (GRCm39) probably null Het
Hsf5 C G 11: 87,508,120 (GRCm39) T8S probably benign Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Il21r A G 7: 125,231,757 (GRCm39) D395G probably damaging Het
Kctd14 T A 7: 97,107,219 (GRCm39) V190E probably damaging Het
Mamdc4 C G 2: 25,460,092 (GRCm39) G57A probably damaging Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mroh2a T C 1: 88,184,476 (GRCm39) V1453A probably benign Het
Mtch1 A T 17: 29,559,485 (GRCm39) probably null Het
Nasp G A 4: 116,479,979 (GRCm39) A31V possibly damaging Het
Neil3 G T 8: 54,061,774 (GRCm39) D202E probably damaging Het
Ptpra T A 2: 130,379,508 (GRCm39) M327K probably damaging Het
Ptprg C A 14: 12,213,747 (GRCm38) F263L probably damaging Het
Sap30 A G 8: 57,938,152 (GRCm39) V155A probably damaging Het
Serpinb2 G A 1: 107,452,501 (GRCm39) V360M probably damaging Het
Stradb A G 1: 59,027,707 (GRCm39) H79R probably damaging Het
Svep1 A T 4: 58,113,458 (GRCm39) probably null Het
Tcaf2 A T 6: 42,607,308 (GRCm39) H215Q probably benign Het
Tdrd5 A T 1: 156,120,947 (GRCm39) S227T possibly damaging Het
Timmdc1 A T 16: 38,338,861 (GRCm39) Y76* probably null Het
Tmbim4 T A 10: 120,057,628 (GRCm39) probably null Het
Tpr A G 1: 150,293,790 (GRCm39) K854R probably benign Het
Trav6-5 A G 14: 53,728,832 (GRCm39) T30A probably benign Het
Trrap T A 5: 144,776,523 (GRCm39) probably null Het
Ube2o A T 11: 116,430,316 (GRCm39) S1141T probably benign Het
Usp54 T A 14: 20,633,518 (GRCm39) K339I probably damaging Het
Vwf T G 6: 125,634,128 (GRCm39) V202G unknown Het
Wdr7 T C 18: 63,857,203 (GRCm39) L93P probably damaging Het
Zfp871 CCACAC CC 17: 32,994,494 (GRCm39) probably null 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
R2409:Nfkb1 UTSW 3 135,319,704 (GRCm39) missense possibly damaging 0.93
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
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'- CCTATGGATTTCACACCCGC -3'
(R):5'- TGTTTCCTGGACATATAAACAACCC -3'

Sequencing Primer
(F):5'- CGTGTTCCCGCTCCCTC -3'
(R):5'- TGATTTATTTCCATCCTGTCATGTG -3'
Posted On 2018-02-28