Incidental Mutation 'R3793:Nfrkb'
ID 272656
Institutional Source Beutler Lab
Gene Symbol Nfrkb
Ensembl Gene ENSMUSG00000042185
Gene Name nuclear factor related to kappa B binding protein
Synonyms A530090G11Rik
MMRRC Submission 040755-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.729) question?
Stock # R3793 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 31297488-31332629 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 31321228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086167] [ENSMUST00000132329] [ENSMUST00000152593]
AlphaFold Q6PIJ4
Predicted Effect probably benign
Transcript: ENSMUST00000086167
SMART Domains Protein: ENSMUSP00000083341
Gene: ENSMUSG00000042185

DomainStartEndE-ValueType
low complexity region 209 234 N/A INTRINSIC
coiled coil region 304 335 N/A INTRINSIC
Pfam:NFRKB_winged 379 478 4.5e-35 PFAM
low complexity region 663 690 N/A INTRINSIC
low complexity region 700 740 N/A INTRINSIC
internal_repeat_1 879 953 2.02e-5 PROSPERO
low complexity region 1016 1034 N/A INTRINSIC
low complexity region 1111 1127 N/A INTRINSIC
internal_repeat_1 1128 1201 2.02e-5 PROSPERO
low complexity region 1239 1255 N/A INTRINSIC
low complexity region 1269 1290 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128375
Predicted Effect probably benign
Transcript: ENSMUST00000132329
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143558
Predicted Effect probably benign
Transcript: ENSMUST00000152593
SMART Domains Protein: ENSMUSP00000119025
Gene: ENSMUSG00000042185

DomainStartEndE-ValueType
low complexity region 209 234 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.4%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,259,889 (GRCm39) T35A probably benign Het
Arhgap32 T A 9: 32,166,669 (GRCm39) S435R probably damaging Het
Asic1 A T 15: 99,569,906 (GRCm39) K76* probably null Het
B9d1 A G 11: 61,398,448 (GRCm39) probably benign Het
Casd1 T C 6: 4,619,876 (GRCm39) V207A possibly damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cnfn T C 7: 25,067,805 (GRCm39) N45S probably benign Het
Col14a1 G T 15: 55,226,909 (GRCm39) D220Y unknown Het
Csn1s1 T A 5: 87,828,702 (GRCm39) Y274* probably null Het
Cyp2c69 T C 19: 39,869,600 (GRCm39) T140A probably benign Het
Dlg2 A T 7: 91,459,743 (GRCm39) probably benign Het
Esp16 T C 17: 39,848,739 (GRCm39) I11T possibly damaging Het
Esyt3 A T 9: 99,197,334 (GRCm39) F832Y possibly damaging Het
Ift172 C T 5: 31,414,925 (GRCm39) D1366N possibly damaging Het
Itga4 A G 2: 79,109,472 (GRCm39) T224A probably benign Het
Itprid1 A T 6: 55,952,588 (GRCm39) M844L possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Krt71 C T 15: 101,651,345 (GRCm39) S46N probably damaging Het
Lhx1 A G 11: 84,412,726 (GRCm39) S65P probably benign Het
Lingo4 A G 3: 94,309,685 (GRCm39) S208G probably benign Het
Lrrc2 T A 9: 110,795,585 (GRCm39) C123* probably null Het
Nfx1 T A 4: 41,004,357 (GRCm39) C709* probably null Het
Nlrp14 A T 7: 106,781,481 (GRCm39) Q226L probably benign Het
Ocln T C 13: 100,635,402 (GRCm39) R496G possibly damaging Het
Or2b2b T C 13: 21,859,153 (GRCm39) probably null Het
Or7e173 T A 9: 19,938,359 (GRCm39) I292F probably damaging Het
Osgepl1 T C 1: 53,359,406 (GRCm39) I305T probably damaging Het
Ovgp1 A G 3: 105,887,487 (GRCm39) N266S probably benign Het
Per1 A G 11: 69,000,127 (GRCm39) E1273G probably benign Het
Plch1 A G 3: 63,605,252 (GRCm39) Y1542H probably damaging Het
Pold1 A G 7: 44,190,994 (GRCm39) F252L probably damaging Het
Ptk2b A T 14: 66,407,700 (GRCm39) D607E probably damaging Het
Sdf4 T A 4: 156,086,916 (GRCm39) probably null Het
Sirt4 T C 5: 115,618,351 (GRCm39) D241G probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slco1b2 A G 6: 141,622,033 (GRCm39) Y531C probably damaging Het
Tmem200a A T 10: 25,870,087 (GRCm39) S61T probably damaging Het
Trp53bp1 T C 2: 121,030,810 (GRCm39) I1784V probably damaging Het
Uba2 A C 7: 33,845,722 (GRCm39) V467G probably damaging Het
Ubr3 T C 2: 69,747,525 (GRCm39) S263P possibly damaging Het
Ugt2b35 A G 5: 87,149,465 (GRCm39) T239A probably benign Het
Wac T C 18: 7,920,190 (GRCm39) V348A possibly damaging Het
Wdr3 A T 3: 100,059,281 (GRCm39) M346K probably benign Het
Zfp607a A T 7: 27,578,331 (GRCm39) H467L probably benign Het
Other mutations in Nfrkb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00688:Nfrkb APN 9 31,300,345 (GRCm39) missense probably damaging 0.99
IGL01343:Nfrkb APN 9 31,300,250 (GRCm39) missense probably damaging 0.99
IGL01363:Nfrkb APN 9 31,325,667 (GRCm39) missense possibly damaging 0.53
IGL01647:Nfrkb APN 9 31,307,801 (GRCm39) splice site probably benign
IGL01655:Nfrkb APN 9 31,314,755 (GRCm39) missense probably benign 0.09
IGL01735:Nfrkb APN 9 31,321,435 (GRCm39) missense possibly damaging 0.73
IGL01926:Nfrkb APN 9 31,325,475 (GRCm39) missense probably benign 0.01
IGL01929:Nfrkb APN 9 31,331,169 (GRCm39) missense possibly damaging 0.73
IGL02095:Nfrkb APN 9 31,322,527 (GRCm39) missense probably damaging 0.97
IGL02370:Nfrkb APN 9 31,300,308 (GRCm39) missense probably benign 0.08
IGL02525:Nfrkb APN 9 31,325,812 (GRCm39) missense possibly damaging 0.73
R0325:Nfrkb UTSW 9 31,325,476 (GRCm39) missense probably benign 0.06
R0390:Nfrkb UTSW 9 31,300,193 (GRCm39) start gained probably benign
R0558:Nfrkb UTSW 9 31,321,564 (GRCm39) missense possibly damaging 0.73
R0670:Nfrkb UTSW 9 31,331,469 (GRCm39) missense probably benign 0.33
R1329:Nfrkb UTSW 9 31,325,943 (GRCm39) missense possibly damaging 0.93
R1729:Nfrkb UTSW 9 31,325,932 (GRCm39) missense probably benign 0.00
R1730:Nfrkb UTSW 9 31,325,932 (GRCm39) missense probably benign 0.00
R1894:Nfrkb UTSW 9 31,326,064 (GRCm39) missense probably benign 0.02
R1975:Nfrkb UTSW 9 31,325,980 (GRCm39) missense possibly damaging 0.86
R2022:Nfrkb UTSW 9 31,322,546 (GRCm39) missense probably benign 0.04
R2175:Nfrkb UTSW 9 31,300,310 (GRCm39) missense possibly damaging 0.73
R4020:Nfrkb UTSW 9 31,325,407 (GRCm39) missense possibly damaging 0.96
R4425:Nfrkb UTSW 9 31,311,258 (GRCm39) missense probably damaging 0.99
R4727:Nfrkb UTSW 9 31,314,919 (GRCm39) missense probably damaging 0.99
R4730:Nfrkb UTSW 9 31,321,547 (GRCm39) missense probably benign 0.33
R4775:Nfrkb UTSW 9 31,330,345 (GRCm39) missense possibly damaging 0.86
R5032:Nfrkb UTSW 9 31,300,351 (GRCm39) splice site probably null
R5532:Nfrkb UTSW 9 31,309,075 (GRCm39) missense probably damaging 1.00
R5635:Nfrkb UTSW 9 31,310,594 (GRCm39) missense probably damaging 0.98
R5712:Nfrkb UTSW 9 31,325,932 (GRCm39) missense probably benign 0.00
R5720:Nfrkb UTSW 9 31,306,038 (GRCm39) missense probably damaging 1.00
R6448:Nfrkb UTSW 9 31,306,085 (GRCm39) missense probably damaging 1.00
R6543:Nfrkb UTSW 9 31,312,281 (GRCm39) nonsense probably null
R6612:Nfrkb UTSW 9 31,308,302 (GRCm39) nonsense probably null
R7087:Nfrkb UTSW 9 31,331,228 (GRCm39) nonsense probably null
R7123:Nfrkb UTSW 9 31,325,311 (GRCm39) critical splice acceptor site probably null
R7483:Nfrkb UTSW 9 31,325,328 (GRCm39) nonsense probably null
R7875:Nfrkb UTSW 9 31,321,450 (GRCm39) missense possibly damaging 0.53
R8336:Nfrkb UTSW 9 31,314,815 (GRCm39) missense possibly damaging 0.64
R8370:Nfrkb UTSW 9 31,316,875 (GRCm39) missense probably damaging 1.00
R8427:Nfrkb UTSW 9 31,330,323 (GRCm39) missense probably benign 0.01
R8518:Nfrkb UTSW 9 31,311,261 (GRCm39) missense probably damaging 0.99
R9607:Nfrkb UTSW 9 31,326,066 (GRCm39) missense possibly damaging 0.73
R9627:Nfrkb UTSW 9 31,321,189 (GRCm39) missense possibly damaging 0.96
R9679:Nfrkb UTSW 9 31,321,385 (GRCm39) missense probably benign
T0975:Nfrkb UTSW 9 31,308,379 (GRCm39) missense probably benign 0.04
Z1088:Nfrkb UTSW 9 31,322,629 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- CCAAGGCCTGGCTTATCTTAC -3'
(R):5'- GGCATGCTAGAGTCACTGAG -3'

Sequencing Primer
(F):5'- CTGCTTCAGTCTCCAAGAAGTGAG -3'
(R):5'- AGTCACTGAGGCTCATCTGG -3'
Posted On 2015-03-25