Incidental Mutation 'R2154:Nfkb1'
ID 234598
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 040157-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2154 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 135290416-135397308 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135307240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 562 (T562A)
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 probably benign
Transcript: ENSMUST00000029812
AA Change: T562A

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029812
Gene: ENSMUSG00000028163
AA Change: T562A

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: ENSMUST00000129428
Predicted Effect unknown
Transcript: ENSMUST00000132668
AA Change: T201A
SMART Domains Protein: ENSMUSP00000114798
Gene: ENSMUSG00000028163
AA Change: T201A

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000164430
AA Change: T562A

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128345
Gene: ENSMUSG00000028163
AA Change: T562A

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 unknown
Transcript: ENSMUST00000184550
AA Change: T50A
Predicted Effect probably benign
Transcript: ENSMUST00000196469
SMART Domains Protein: ENSMUSP00000143601
Gene: ENSMUSG00000028163

DomainStartEndE-ValueType
Pfam:RHD_DNA_bind 42 90 2.5e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199588
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,208,959 (GRCm39) E363G probably benign Het
Abca3 A G 17: 24,596,693 (GRCm39) Y382C probably damaging Het
Abca5 A G 11: 110,183,000 (GRCm39) I1019T probably benign Het
Acox3 A T 5: 35,762,568 (GRCm39) S481C probably damaging Het
Ankrd7 T A 6: 18,870,030 (GRCm39) M261K probably benign Het
Aqr A C 2: 113,967,485 (GRCm39) M510R probably damaging Het
Arpc1a A T 5: 145,029,369 (GRCm39) T56S probably benign Het
Asap2 A T 12: 21,162,084 (GRCm39) T14S probably damaging Het
Aspg A G 12: 112,087,408 (GRCm39) E288G probably benign Het
Atp2c2 A G 8: 120,482,841 (GRCm39) N901S probably benign Het
Cabcoco1 A G 10: 68,267,092 (GRCm39) L205P probably damaging Het
Cant1 A G 11: 118,302,263 (GRCm39) L18P probably damaging Het
Cdca2 G A 14: 67,914,425 (GRCm39) P945S probably damaging Het
Cfap74 A G 4: 155,513,753 (GRCm39) K522E possibly damaging Het
Chek1 C A 9: 36,635,279 (GRCm39) V35F probably damaging Het
Cpa6 A T 1: 10,407,547 (GRCm39) M330K probably damaging Het
Creb3l4 G T 3: 90,145,792 (GRCm39) N246K probably damaging Het
Cyp2c55 T A 19: 39,022,819 (GRCm39) V319D probably damaging Het
Dapk1 T A 13: 60,877,317 (GRCm39) S519T probably benign Het
Dhx38 T C 8: 110,287,306 (GRCm39) S221G probably benign Het
Dis3l T A 9: 64,214,545 (GRCm39) N981I probably benign Het
Dock4 T A 12: 40,870,661 (GRCm39) V1467E probably damaging Het
Dock4 ACCTGCTCTGCC ACCTGCTCTGCCTGCTCTGCC 12: 40,894,547 (GRCm39) probably benign Het
Dok5 G A 2: 170,642,816 (GRCm39) G38D probably damaging Het
Ercc6l2 T C 13: 64,013,821 (GRCm39) S631P probably damaging Het
Fat4 A T 3: 38,941,688 (GRCm39) S194C probably damaging Het
Fcsk T A 8: 111,615,704 (GRCm39) T542S probably benign Het
Garem2 T C 5: 30,313,297 (GRCm39) S54P probably damaging Het
Gdf10 T C 14: 33,656,346 (GRCm39) I436T probably damaging Het
Gfod1 T C 13: 43,456,946 (GRCm39) T10A possibly damaging Het
Gucy1a1 A G 3: 82,018,458 (GRCm39) probably null Het
Heatr5b G T 17: 79,138,873 (GRCm39) Q90K probably benign Het
Ikzf3 T A 11: 98,376,475 (GRCm39) K211* probably null Het
Itgam A C 7: 127,684,749 (GRCm39) D373A probably damaging Het
Itpripl2 A G 7: 118,089,107 (GRCm39) F484S probably damaging Het
Kat6b A T 14: 21,718,735 (GRCm39) H1138L probably benign Het
Kif16b T C 2: 142,532,500 (GRCm39) K1213R probably damaging Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Mmp25 T A 17: 23,850,048 (GRCm39) Y504F probably damaging Het
Mtf2 A G 5: 108,228,797 (GRCm39) K38E possibly damaging Het
Myh14 A C 7: 44,301,853 (GRCm39) probably null Het
Nedd4l T A 18: 65,343,401 (GRCm39) H820Q probably damaging Het
Or8b49 G T 9: 38,505,707 (GRCm39) L63F probably damaging Het
Pds5a A T 5: 65,807,841 (GRCm39) V464E probably damaging Het
Peak1 C T 9: 56,114,496 (GRCm39) V452M probably damaging Het
Phf2 T C 13: 48,973,549 (GRCm39) Y372C unknown Het
Poc1a T A 9: 106,162,773 (GRCm39) probably null Het
Prss33 C T 17: 24,053,817 (GRCm39) V87M probably damaging Het
Psmc2 C G 5: 22,008,127 (GRCm39) L344V possibly damaging Het
Ptpn12 C A 5: 21,207,466 (GRCm39) Q297H probably damaging Het
Rabgap1 T C 2: 37,365,453 (GRCm39) V242A probably damaging Het
Rad1 C A 15: 10,486,721 (GRCm39) H39Q possibly damaging Het
Rad51ap2 A G 12: 11,507,986 (GRCm39) H636R probably benign Het
Samd9l C T 6: 3,372,945 (GRCm39) D1439N possibly damaging Het
Sbno1 A T 5: 124,516,574 (GRCm39) D1266E probably benign Het
Sidt2 T C 9: 45,856,638 (GRCm39) D477G probably damaging Het
Slc22a13 T C 9: 119,037,753 (GRCm39) K125R probably benign Het
Slc6a1 G T 6: 114,284,731 (GRCm39) G263V probably damaging Het
Slmap A G 14: 26,139,402 (GRCm39) Y771H probably damaging Het
Smg1 A T 7: 117,757,299 (GRCm39) probably benign Het
Spinkl A T 18: 44,302,194 (GRCm39) N32K probably benign Het
Stxbp1 T A 2: 32,692,868 (GRCm39) I383F probably damaging Het
Taf3 C T 2: 9,956,377 (GRCm39) E597K possibly damaging Het
Tln2 T C 9: 67,209,842 (GRCm39) T432A probably damaging Het
Tmco6 T C 18: 36,874,740 (GRCm39) V409A probably benign Het
Tstd2 T C 4: 46,129,235 (GRCm39) T198A probably damaging Het
Vmn1r230 T A 17: 21,067,063 (GRCm39) M84K probably damaging Het
Vmn1r45 T A 6: 89,910,965 (GRCm39) S2C possibly damaging Het
Vmn2r25 T A 6: 123,816,805 (GRCm39) T259S probably benign Het
Vmn2r70 A G 7: 85,212,923 (GRCm39) S495P possibly damaging Het
Vmn2r97 A T 17: 19,167,584 (GRCm39) R613* probably null Het
Yme1l1 T C 2: 23,052,520 (GRCm39) L58P probably damaging Het
Zan G A 5: 137,412,511 (GRCm39) probably benign Het
Zfhx4 A G 3: 5,466,801 (GRCm39) T2320A possibly damaging Het
Zfp407 T C 18: 84,227,774 (GRCm39) D1945G possibly 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
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
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'- ATTGCCATCAAACCCGTGATCC -3'
(R):5'- CATTCAGTACATGGTAGGGCC -3'

Sequencing Primer
(F):5'- CCAACTAAGGATGCTTTTAAGATGCC -3'
(R):5'- TAGGGCCAAGGAAAGCTACAC -3'
Posted On 2014-10-01