Incidental Mutation 'R2175:Nfrkb'
ID 236831
Institutional Source Beutler Lab
Gene Symbol Nfrkb
Ensembl Gene ENSMUSG00000042185
Gene Name nuclear factor related to kappa B binding protein
Synonyms A530090G11Rik
MMRRC Submission 040177-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.729) question?
Stock # R2175 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 31297488-31332629 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31300310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 34 (T34A)
Ref Sequence ENSEMBL: ENSMUSP00000119622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086167] [ENSMUST00000131540] [ENSMUST00000132329] [ENSMUST00000152593] [ENSMUST00000215211]
AlphaFold Q6PIJ4
Predicted Effect possibly damaging
Transcript: ENSMUST00000086167
AA Change: T34A

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000083341
Gene: ENSMUSG00000042185
AA Change: T34A

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 possibly damaging
Transcript: ENSMUST00000131540
AA Change: T34A

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000132329
AA Change: T34A

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134528
Predicted Effect probably benign
Transcript: ENSMUST00000152593
AA Change: T34A

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000119025
Gene: ENSMUSG00000042185
AA Change: T34A

DomainStartEndE-ValueType
low complexity region 209 234 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000215211
AA Change: T34A

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T A 8: 44,078,475 (GRCm39) Y583F probably benign Het
Adra2a A G 19: 54,034,793 (GRCm39) T50A probably benign Het
Alox8 T C 11: 69,078,592 (GRCm39) Y367C possibly damaging Het
Ankfn1 A G 11: 89,417,363 (GRCm39) L83P probably damaging Het
Asxl3 T C 18: 22,649,652 (GRCm39) L547P probably benign Het
Cox10 G A 11: 63,962,475 (GRCm39) A122V probably benign Het
Cttnbp2 A C 6: 18,434,828 (GRCm39) probably null Het
Eml5 A T 12: 98,842,482 (GRCm39) C205* probably null Het
Ephx3 T A 17: 32,407,433 (GRCm39) T204S possibly damaging Het
Evi5l A G 8: 4,237,269 (GRCm39) H124R probably damaging Het
Ext1 G T 15: 52,932,124 (GRCm39) P726Q probably damaging Het
Fam151b T C 13: 92,614,426 (GRCm39) R21G probably damaging Het
Hdac1 G A 4: 129,428,463 (GRCm39) R36C probably damaging Het
Ift172 A G 5: 31,424,029 (GRCm39) Y715H probably damaging Het
Inpp4b T C 8: 82,583,328 (GRCm39) F144S probably damaging Het
Lepr T A 4: 101,622,576 (GRCm39) I452N probably benign Het
Mok T C 12: 110,781,634 (GRCm39) H6R probably benign Het
Myef2 A T 2: 124,940,375 (GRCm39) M392K probably damaging Het
Ncoa2 G A 1: 13,294,837 (GRCm39) P28S probably damaging Het
Nkx1-1 G A 5: 33,588,598 (GRCm39) A230V probably benign Het
Or10ag2 T A 2: 87,248,500 (GRCm39) L34H probably damaging Het
Or5an1b T A 19: 12,299,885 (GRCm39) Y102F probably damaging Het
Ryr1 T G 7: 28,767,867 (GRCm39) K2890T probably damaging Het
Siae G T 9: 37,539,092 (GRCm39) D168Y probably damaging Het
Smarcc1 A T 9: 109,993,877 (GRCm39) T241S possibly damaging Het
Steap2 T A 5: 5,723,501 (GRCm39) I460F probably damaging Het
Strap A G 6: 137,727,590 (GRCm39) T345A probably benign Het
Tex2 A G 11: 106,394,513 (GRCm39) V1099A unknown Het
Thsd7a T C 6: 12,331,943 (GRCm39) T1290A possibly damaging Het
Unc80 G A 1: 66,716,514 (GRCm39) G2878D probably damaging Het
Vmn2r63 C T 7: 42,583,004 (GRCm39) probably null Het
Xirp2 C T 2: 67,340,258 (GRCm39) T833I probably damaging Het
Zcchc2 T C 1: 105,955,153 (GRCm39) S615P probably damaging Het
Zfp148 C G 16: 33,317,116 (GRCm39) S554* probably null 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
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
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'- AGCATCCATCTGATCTCTGC -3'
(R):5'- ACTCCTGACTAGAAGGTTACCATATG -3'

Sequencing Primer
(F):5'- AGCATCCATCTGATCTCTGCTTTCC -3'
(R):5'- CACACACAAATCAATCTGGGTTTG -3'
Posted On 2014-10-02