Incidental Mutation 'IGL00688:Nfrkb'
ID 12753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfrkb
Ensembl Gene ENSMUSG00000042185
Gene Name nuclear factor related to kappa B binding protein
Synonyms A530090G11Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.729) question?
Stock # IGL00688
Quality Score
Status
Chromosome 9
Chromosomal Location 31297488-31332629 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31300345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 45 (D45E)
Ref Sequence ENSEMBL: ENSMUSP00000119622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086167] [ENSMUST00000131540] [ENSMUST00000132329] [ENSMUST00000152593] [ENSMUST00000215211]
AlphaFold Q6PIJ4
Predicted Effect probably damaging
Transcript: ENSMUST00000086167
AA Change: D45E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000083341
Gene: ENSMUSG00000042185
AA Change: D45E

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 damaging
Transcript: ENSMUST00000131540
AA Change: D45E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000132329
AA Change: D45E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134528
Predicted Effect probably damaging
Transcript: ENSMUST00000152593
AA Change: D45E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119025
Gene: ENSMUSG00000042185
AA Change: D45E

DomainStartEndE-ValueType
low complexity region 209 234 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000215211
AA Change: D45E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A T 4: 39,451,443 (GRCm39) L216F probably benign Het
Atg13 A T 2: 91,516,842 (GRCm39) probably benign Het
Fgf7 A G 2: 125,931,365 (GRCm39) T157A probably damaging Het
Irak4 A G 15: 94,464,744 (GRCm39) H438R possibly damaging Het
Kansl1 T C 11: 104,315,892 (GRCm39) T49A probably damaging Het
Kcnh5 T C 12: 74,945,171 (GRCm39) K693E probably benign Het
Pramel28 G T 4: 143,692,392 (GRCm39) P203Q possibly damaging Het
Prlr T C 15: 10,322,467 (GRCm39) probably benign Het
Prpf40b A G 15: 99,214,012 (GRCm39) K789E probably benign Het
Reep5 A T 18: 34,482,746 (GRCm39) S154R probably benign Het
Setx T A 2: 29,038,457 (GRCm39) S1647R possibly damaging Het
Sptbn2 A G 19: 4,775,966 (GRCm39) E174G probably damaging Het
Taf1 A G X: 100,606,545 (GRCm39) E1248G probably damaging Het
Tanc1 T G 2: 59,645,735 (GRCm39) L929R probably damaging Het
Tanc2 A G 11: 105,689,516 (GRCm39) Y226C probably damaging Het
Tmem69 T C 4: 116,410,671 (GRCm39) I100V probably benign Het
Other mutations in Nfrkb
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06