Incidental Mutation 'IGL01655:Nfrkb'
ID102970
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfrkb
Ensembl Gene ENSMUSG00000042185
Gene Namenuclear factor related to kappa B binding protein
SynonymsA530090G11Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.596) question?
Stock #IGL01655
Quality Score
Status
Chromosome9
Chromosomal Location31386192-31421333 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 31403459 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 525 (R525L)
Ref Sequence ENSEMBL: ENSMUSP00000083341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086167] [ENSMUST00000132329] [ENSMUST00000152593] [ENSMUST00000215211]
Predicted Effect probably benign
Transcript: ENSMUST00000086167
AA Change: R525L

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000083341
Gene: ENSMUSG00000042185
AA Change: R525L

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: ENSMUST00000134528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150179
Predicted Effect probably benign
Transcript: ENSMUST00000152593
SMART Domains Protein: ENSMUSP00000119025
Gene: ENSMUSG00000042185

DomainStartEndE-ValueType
low complexity region 209 234 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000215211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215544
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 G A 3: 97,165,972 probably null Het
Aida T A 1: 183,313,683 Y104* probably null Het
Cd300lg T C 11: 102,047,075 S244P probably benign Het
Ces4a T A 8: 105,147,174 L425Q probably damaging Het
Chrnb3 T C 8: 27,394,174 V298A probably damaging Het
Cnot6 A C 11: 49,677,304 F486C probably damaging Het
Ctnna3 A G 10: 64,873,170 T663A probably benign Het
Cyp2j12 T A 4: 96,115,577 K267N possibly damaging Het
Dclre1a A T 19: 56,547,057 Y32N probably damaging Het
Ddx21 A G 10: 62,587,491 I644T probably damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Ercc6l2 T A 13: 63,819,752 Y55* probably null Het
Esyt1 A G 10: 128,522,312 I183T possibly damaging Het
Exoc8 T C 8: 124,896,228 T467A probably benign Het
Fance T C 17: 28,322,779 probably benign Het
Fbxo46 C T 7: 19,136,310 R285W probably damaging Het
Ffar2 A T 7: 30,819,587 V176E probably damaging Het
Fnbp1l T C 3: 122,568,749 probably null Het
Gm10288 T C 3: 146,838,810 noncoding transcript Het
Gm12588 T A 11: 121,907,951 Het
Gm9755 G A 8: 67,515,233 noncoding transcript Het
Gpr33 A T 12: 52,023,560 M232K probably damaging Het
Haus5 A T 7: 30,663,294 probably benign Het
Ilvbl A G 10: 78,577,333 probably benign Het
Kifap3 G A 1: 163,796,049 probably benign Het
Klhl26 T C 8: 70,451,883 Y378C probably damaging Het
Lama4 G A 10: 39,060,213 S628N probably benign Het
Lamc3 G A 2: 31,898,278 R150H probably damaging Het
Mrgprx2 A T 7: 48,482,691 C126* probably null Het
Myo3a A T 2: 22,423,326 D798V probably damaging Het
Ndufs1 A T 1: 63,151,557 L44Q probably damaging Het
Olfr1124 T A 2: 87,434,885 C133S probably damaging Het
Olfr1134 A G 2: 87,656,429 F164S probably damaging Het
Olfr1287 T C 2: 111,449,889 F250L probably benign Het
Olfr1370 T C 13: 21,072,905 Y132C probably damaging Het
Olfr146 T A 9: 39,018,918 I208F probably benign Het
Olfr394 T C 11: 73,887,927 I148M probably benign Het
Olfr458 T C 6: 42,460,540 T160A probably benign Het
Olfr735 A G 14: 50,346,184 M86T probably benign Het
Olfr824 G T 10: 130,126,991 T22K probably benign Het
Pias4 T C 10: 81,155,658 K352E probably benign Het
Pkhd1 G A 1: 20,534,633 Q1153* probably null Het
Pon1 C A 6: 5,175,760 W254C probably damaging Het
Prr14 A G 7: 127,475,767 T447A probably benign Het
Serpinb9g T A 13: 33,495,105 C319* probably null Het
Slc9c1 A T 16: 45,582,972 M801L probably benign Het
Tenm4 C T 7: 96,553,724 T182M probably damaging Het
Ubr4 T A 4: 139,407,796 L813Q probably damaging Het
Uimc1 T C 13: 55,028,704 E667G probably benign Het
Unc79 A G 12: 103,168,287 T2173A probably benign Het
Unkl T C 17: 25,210,848 S142P probably benign Het
Vezt A G 10: 93,996,997 V204A probably benign Het
Vps53 A T 11: 76,063,034 I402N probably damaging Het
Zfyve9 T C 4: 108,642,092 D1343G probably damaging Het
Other mutations in Nfrkb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00688:Nfrkb APN 9 31389049 missense probably damaging 0.99
IGL01343:Nfrkb APN 9 31388954 missense probably damaging 0.99
IGL01363:Nfrkb APN 9 31414371 missense possibly damaging 0.53
IGL01647:Nfrkb APN 9 31396505 splice site probably benign
IGL01735:Nfrkb APN 9 31410139 missense possibly damaging 0.73
IGL01926:Nfrkb APN 9 31414179 missense probably benign 0.01
IGL01929:Nfrkb APN 9 31419873 missense possibly damaging 0.73
IGL02095:Nfrkb APN 9 31411231 missense probably damaging 0.97
IGL02370:Nfrkb APN 9 31389012 missense probably benign 0.08
IGL02525:Nfrkb APN 9 31414516 missense possibly damaging 0.73
R0325:Nfrkb UTSW 9 31414180 missense probably benign 0.06
R0390:Nfrkb UTSW 9 31388897 start gained probably benign
R0558:Nfrkb UTSW 9 31410268 missense possibly damaging 0.73
R0670:Nfrkb UTSW 9 31420173 missense probably benign 0.33
R1329:Nfrkb UTSW 9 31414647 missense possibly damaging 0.93
R1729:Nfrkb UTSW 9 31414636 missense probably benign 0.00
R1730:Nfrkb UTSW 9 31414636 missense probably benign 0.00
R1894:Nfrkb UTSW 9 31414768 missense probably benign 0.02
R1975:Nfrkb UTSW 9 31414684 missense possibly damaging 0.86
R2022:Nfrkb UTSW 9 31411250 missense probably benign 0.04
R2175:Nfrkb UTSW 9 31389014 missense possibly damaging 0.73
R3793:Nfrkb UTSW 9 31409932 splice site probably benign
R4020:Nfrkb UTSW 9 31414111 missense possibly damaging 0.96
R4425:Nfrkb UTSW 9 31399962 missense probably damaging 0.99
R4727:Nfrkb UTSW 9 31403623 missense probably damaging 0.99
R4730:Nfrkb UTSW 9 31410251 missense probably benign 0.33
R4775:Nfrkb UTSW 9 31419049 missense possibly damaging 0.86
R5032:Nfrkb UTSW 9 31389055 splice site probably null
R5532:Nfrkb UTSW 9 31397779 missense probably damaging 1.00
R5635:Nfrkb UTSW 9 31399298 missense probably damaging 0.98
R5712:Nfrkb UTSW 9 31414636 missense probably benign 0.00
R5720:Nfrkb UTSW 9 31394742 missense probably damaging 1.00
R6448:Nfrkb UTSW 9 31394789 missense probably damaging 1.00
R6543:Nfrkb UTSW 9 31400985 nonsense probably null
R6612:Nfrkb UTSW 9 31397006 nonsense probably null
R7087:Nfrkb UTSW 9 31419932 nonsense probably null
R7123:Nfrkb UTSW 9 31414015 critical splice acceptor site probably null
R7483:Nfrkb UTSW 9 31414032 nonsense probably null
T0975:Nfrkb UTSW 9 31397083 missense probably benign 0.04
Z1088:Nfrkb UTSW 9 31411333 missense possibly damaging 0.73
Posted On2014-01-21