Incidental Mutation 'R7087:Nfrkb'
ID 549962
Institutional Source Beutler Lab
Gene Symbol Nfrkb
Ensembl Gene ENSMUSG00000042185
Gene Name nuclear factor related to kappa B binding protein
Synonyms A530090G11Rik
MMRRC Submission 045181-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.729) question?
Stock # R7087 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 31297488-31332629 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 31331228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 1250 (Q1250*)
Ref Sequence ENSEMBL: ENSMUSP00000083341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086167] [ENSMUST00000132329] [ENSMUST00000152593]
AlphaFold Q6PIJ4
Predicted Effect probably null
Transcript: ENSMUST00000086167
AA Change: Q1250*
SMART Domains Protein: ENSMUSP00000083341
Gene: ENSMUSG00000042185
AA Change: Q1250*

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 probably benign
Transcript: ENSMUST00000132329
Predicted Effect probably benign
Transcript: ENSMUST00000152593
SMART Domains Protein: ENSMUSP00000119025
Gene: ENSMUSG00000042185

DomainStartEndE-ValueType
low complexity region 209 234 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (43/44)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 T A 7: 119,373,870 (GRCm39) V252D probably damaging Het
Adprhl1 A G 8: 13,271,856 (GRCm39) L1634P probably damaging Het
Arhgef4 A T 1: 34,850,767 (GRCm39) R438W probably damaging Het
Asb3 A C 11: 30,948,321 (GRCm39) K38T probably benign Het
Atp1a4 A T 1: 172,074,269 (GRCm39) L328Q probably damaging Het
BC030500 T A 8: 59,365,388 (GRCm39) I13N unknown Het
Cbarp A G 10: 79,972,242 (GRCm39) S136P probably damaging Het
Ccdc18 T A 5: 108,343,988 (GRCm39) D910E probably benign Het
Cenpo C T 12: 4,265,307 (GRCm39) E238K probably benign Het
Cmya5 A G 13: 93,227,483 (GRCm39) V2535A probably benign Het
Ddx39b C T 17: 35,472,025 (GRCm39) R355C probably damaging Het
Dock10 T C 1: 80,570,543 (GRCm39) T338A probably benign Het
Dpysl3 T C 18: 43,496,595 (GRCm39) D147G probably damaging Het
Eif3i G T 4: 129,486,104 (GRCm39) H284Q probably damaging Het
Erbb4 A T 1: 68,779,650 (GRCm39) L42Q probably null Het
Exoc3l2 A G 7: 19,203,582 (GRCm39) E58G Het
Fgf18 C T 11: 33,074,677 (GRCm39) R98Q probably damaging Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gp2 T A 7: 119,049,455 (GRCm39) T361S probably damaging Het
Gtsf1 A T 15: 103,333,876 (GRCm39) H33Q probably damaging Het
Hoxa4 G A 6: 52,168,271 (GRCm39) T133M probably damaging Het
Hspb7 C A 4: 141,149,866 (GRCm39) T84K possibly damaging Het
Kcnq4 C T 4: 120,561,596 (GRCm39) R491H probably damaging Het
Kdm7a C T 6: 39,152,315 (GRCm39) R127H probably benign Het
Lsm10 C T 4: 125,991,952 (GRCm39) R103C probably damaging Het
Mgme1 T C 2: 144,114,101 (GRCm39) S68P probably damaging Het
Nes G T 3: 87,887,065 (GRCm39) V1775L probably benign Het
Or4s2 T C 2: 88,473,197 (GRCm39) F29L probably damaging Het
Phf21b A T 15: 84,676,033 (GRCm39) L338H probably damaging Het
Pira12 G A 7: 3,900,218 (GRCm39) A128V probably benign Het
Ppp2r5b A G 19: 6,282,580 (GRCm39) V190A possibly damaging Het
Prmt1 T C 7: 44,631,007 (GRCm39) probably null Het
Rusc1 A G 3: 88,996,799 (GRCm39) V639A probably damaging Het
Slc24a2 T A 4: 86,909,456 (GRCm39) probably null Het
Slc39a10 T C 1: 46,874,880 (GRCm39) T141A probably damaging Het
Spta1 A T 1: 174,002,076 (GRCm39) M69L probably benign Het
St8sia5 A C 18: 77,342,238 (GRCm39) Q316P possibly damaging Het
Svs3a T C 2: 164,131,717 (GRCm39) I96T possibly damaging Het
Syne1 T A 10: 5,492,024 (GRCm39) probably benign Het
Trappc3 T C 4: 126,166,474 (GRCm39) S16P probably benign Het
Vmn2r44 A T 7: 8,381,366 (GRCm39) F176I probably benign Het
Wnk1 C T 6: 120,014,491 (GRCm39) E35K possibly damaging Het
Zfp354c A G 11: 50,706,040 (GRCm39) L345P probably damaging Het
Zfp608 T A 18: 55,032,469 (GRCm39) K490N probably damaging Het
Zfp687 A C 3: 94,917,524 (GRCm39) S709A 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
R3793:Nfrkb UTSW 9 31,321,228 (GRCm39) splice site probably benign
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
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'- AATACGTAGCCTCATTCTGAGC -3'
(R):5'- GGAGCTGTGGTCACAACAAC -3'

Sequencing Primer
(F):5'- TGAGCCTGAGCAATGTCGTCATAC -3'
(R):5'- ACACTGCTTTGGAGGAGC -3'
Posted On 2019-05-15