Incidental Mutation 'R1725:Nfkb1'
ID 198052
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 039757-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1725 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 135290416-135397308 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 135373519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 10 (G10W)
Ref Sequence ENSEMBL: ENSMUSP00000143601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029812] [ENSMUST00000164430] [ENSMUST00000196469]
AlphaFold P25799
Predicted Effect probably damaging
Transcript: ENSMUST00000029812
AA Change: G10W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029812
Gene: ENSMUSG00000028163
AA Change: G10W

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 probably damaging
Transcript: ENSMUST00000164430
AA Change: G10W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128345
Gene: ENSMUSG00000028163
AA Change: G10W

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 probably damaging
Transcript: ENSMUST00000196469
AA Change: G10W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143601
Gene: ENSMUSG00000028163
AA Change: G10W

DomainStartEndE-ValueType
Pfam:RHD_DNA_bind 42 90 2.5e-19 PFAM
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik A T 16: 88,424,163 (GRCm39) F109L probably benign Het
Aacs T C 5: 125,559,999 (GRCm39) probably null Het
Abcc6 C A 7: 45,641,781 (GRCm39) D866Y possibly damaging Het
Acox3 T C 5: 35,749,516 (GRCm39) Y214H probably benign Het
Acss2 A G 2: 155,398,764 (GRCm39) T404A possibly damaging Het
Adgrb3 T A 1: 25,865,381 (GRCm39) E154V probably damaging Het
Akap12 G A 10: 4,303,942 (GRCm39) V251M probably damaging Het
Ambp A T 4: 63,062,513 (GRCm39) M242K possibly damaging Het
Angptl7 T G 4: 148,584,469 (GRCm39) Y93S probably damaging Het
Apof A G 10: 128,105,680 (GRCm39) probably benign Het
Arv1 T C 8: 125,455,191 (GRCm39) F135L probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Cacna1s C T 1: 136,026,361 (GRCm39) T1116I probably damaging Het
Ccdc91 A G 6: 147,493,541 (GRCm39) E311G unknown Het
Cenpf T C 1: 189,412,676 (GRCm39) T196A probably damaging Het
Chd8 A T 14: 52,470,030 (GRCm39) S527T probably benign Het
Csmd3 A C 15: 47,460,203 (GRCm39) N3529K probably damaging Het
Csnk2a1 T C 2: 152,099,892 (GRCm39) V116A probably damaging Het
Dhx36 T G 3: 62,414,360 (GRCm39) M1L probably benign Het
Diaph3 A G 14: 87,203,759 (GRCm39) probably null Het
Ephb2 G A 4: 136,387,089 (GRCm39) Q714* probably null Het
Eprs1 T A 1: 185,139,189 (GRCm39) L858Q probably damaging Het
Espl1 G T 15: 102,221,656 (GRCm39) V982L probably benign Het
Eya2 A G 2: 165,566,605 (GRCm39) T219A probably benign Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Fbxl18 C T 5: 142,872,458 (GRCm39) R259H probably damaging Het
Gcc2 G A 10: 58,139,937 (GRCm39) R1629H possibly damaging Het
Gje1 G A 10: 14,592,168 (GRCm39) R205* probably null Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Kmt2d T C 15: 98,743,115 (GRCm39) probably benign Het
Krt6a A T 15: 101,600,992 (GRCm39) M268K probably damaging Het
Loxhd1 T A 18: 77,380,937 (GRCm39) S85T probably benign Het
Loxl3 G A 6: 83,012,574 (GRCm39) V38I probably benign Het
Mill2 A G 7: 18,573,993 (GRCm39) D26G probably benign Het
Muc15 T C 2: 110,561,591 (GRCm39) L9S probably damaging Het
Nat8f4 G A 6: 85,878,080 (GRCm39) R148* probably null Het
Nav3 A T 10: 109,659,451 (GRCm39) V722E probably damaging Het
Or10j5 C T 1: 172,784,908 (GRCm39) P182L possibly damaging Het
Or2ag1 A T 7: 106,313,265 (GRCm39) F208I probably benign Het
Or2t1 T G 14: 14,328,977 (GRCm38) Y289D probably damaging Het
Or5b120 T C 19: 13,479,883 (GRCm39) Y59H probably damaging Het
Pcdhb22 T A 18: 37,653,241 (GRCm39) C313S probably benign Het
Plin4 A G 17: 56,413,473 (GRCm39) L384P probably damaging Het
Pm20d1 T C 1: 131,743,796 (GRCm39) I487T probably damaging Het
Prex1 A T 2: 166,443,656 (GRCm39) D334E probably damaging Het
Psg28 A T 7: 18,161,936 (GRCm39) I189N possibly damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Rae1 A G 2: 172,848,754 (GRCm39) I123M possibly damaging Het
Sh3glb2 C A 2: 30,240,679 (GRCm39) E129* probably null Het
Simc1 T C 13: 54,674,219 (GRCm39) S856P probably damaging Het
Slc19a1 T A 10: 76,877,672 (GRCm39) M69K probably benign Het
Slc30a8 A T 15: 52,197,000 (GRCm39) I304F possibly damaging Het
Snx1 A G 9: 66,005,611 (GRCm39) probably null Het
Spmip5 T G 19: 58,781,194 (GRCm39) K10T probably benign Het
Stx18 G A 5: 38,292,599 (GRCm39) V234M probably damaging Het
Sulf2 T C 2: 165,923,281 (GRCm39) T615A probably damaging Het
Sult3a2 T A 10: 33,655,705 (GRCm39) K91N probably benign Het
Tet1 A G 10: 62,650,256 (GRCm39) S22P probably damaging Het
Tmc3 T C 7: 83,253,940 (GRCm39) V362A probably damaging Het
Trim16 A C 11: 62,711,331 (GRCm39) M1L possibly damaging Het
Trp53bp1 C T 2: 121,082,481 (GRCm39) V10I possibly damaging Het
Ttc12 T G 9: 49,369,415 (GRCm39) D235A probably benign Het
Ttn T C 2: 76,692,727 (GRCm39) R452G possibly damaging Het
Ugt2b38 A T 5: 87,559,730 (GRCm39) H387Q probably damaging Het
Usp48 T A 4: 137,360,733 (GRCm39) L20* probably null Het
Utrn T C 10: 12,539,263 (GRCm39) D1918G probably damaging Het
Vmn1r158 A G 7: 22,490,072 (GRCm39) S46P probably benign Het
Vmn2r97 T A 17: 19,149,397 (GRCm39) W262R probably benign Het
Vps13d A T 4: 144,869,830 (GRCm39) S1917T possibly damaging Het
Vsx1 T C 2: 150,528,120 (GRCm39) N158D probably benign Het
Vwf G A 6: 125,623,245 (GRCm39) V1781I probably benign Het
Wrap73 T C 4: 154,233,209 (GRCm39) Y128H possibly damaging Het
Zfp472 A G 17: 33,196,311 (GRCm39) K129E possibly damaging Het
Zscan18 A T 7: 12,504,784 (GRCm39) L611Q 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
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
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'- TACTGGGGTCAGACCTTCAACACC -3'
(R):5'- ATCCCGTGGTCTCCCTACAATGAG -3'

Sequencing Primer
(F):5'- CCACAACTGACTCAGTGGC -3'
(R):5'- TCTCCCTACAATGAGAGGTAGATG -3'
Posted On 2014-05-23