Incidental Mutation 'IGL02086:Nfkbiz'
ID285453
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfkbiz
Ensembl Gene ENSMUSG00000035356
Gene Namenuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, zeta
SynonymsMail
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.776) question?
Stock #IGL02086
Quality Score
Status
Chromosome16
Chromosomal Location55811375-55838899 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 55815671 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 509 (L509Q)
Ref Sequence ENSEMBL: ENSMUSP00000110101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036273] [ENSMUST00000096026] [ENSMUST00000114457] [ENSMUST00000114458]
Predicted Effect probably damaging
Transcript: ENSMUST00000036273
AA Change: L608Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041173
Gene: ENSMUSG00000035356
AA Change: L608Q

DomainStartEndE-ValueType
low complexity region 53 83 N/A INTRINSIC
low complexity region 289 315 N/A INTRINSIC
ANK 453 482 1.29e2 SMART
ANK 489 518 4.93e0 SMART
ANK 522 551 1.63e0 SMART
ANK 561 591 7.89e1 SMART
ANK 622 651 1.17e-1 SMART
ANK 658 691 2.92e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000096026
AA Change: L509Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093726
Gene: ENSMUSG00000035356
AA Change: L509Q

DomainStartEndE-ValueType
low complexity region 190 216 N/A INTRINSIC
ANK 354 383 1.29e2 SMART
ANK 390 419 4.93e0 SMART
ANK 423 452 1.63e0 SMART
ANK 462 492 7.89e1 SMART
ANK 523 552 1.17e-1 SMART
ANK 559 592 2.92e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114457
AA Change: L509Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110101
Gene: ENSMUSG00000035356
AA Change: L509Q

DomainStartEndE-ValueType
low complexity region 190 216 N/A INTRINSIC
ANK 354 383 1.29e2 SMART
ANK 390 419 4.93e0 SMART
ANK 423 452 1.63e0 SMART
ANK 462 492 7.89e1 SMART
ANK 523 552 1.17e-1 SMART
ANK 559 592 2.92e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114458
AA Change: L608Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110102
Gene: ENSMUSG00000035356
AA Change: L608Q

DomainStartEndE-ValueType
low complexity region 53 83 N/A INTRINSIC
low complexity region 289 315 N/A INTRINSIC
ANK 453 482 1.29e2 SMART
ANK 489 518 4.93e0 SMART
ANK 522 551 1.63e0 SMART
ANK 561 591 7.89e1 SMART
ANK 622 651 1.17e-1 SMART
ANK 658 691 2.92e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231463
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene may lead to background sensitive prenatal lethality and results in abnormal cytokine secretion, higher IgE levels, ocular surface and perioral skin inflammation accompanied by hair loss, and severe atopic dermatitis-like skin lesions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 18,998,812 probably benign Het
Abi3bp A G 16: 56,642,567 probably benign Het
Asb4 T C 6: 5,398,386 I117T probably benign Het
BC005561 A G 5: 104,519,001 E463G possibly damaging Het
Birc6 T G 17: 74,639,827 L2847R probably damaging Het
C2cd2 A G 16: 97,890,008 probably benign Het
Ccdc77 C A 6: 120,339,158 C186F possibly damaging Het
Cd300ld2 T A 11: 115,012,558 probably benign Het
Cd55b A T 1: 130,418,182 D166E probably benign Het
Cfap100 A G 6: 90,413,972 F8L probably damaging Het
Col2a1 C T 15: 97,986,737 probably null Het
Dbf4 A G 5: 8,403,189 I270T probably benign Het
Dkk3 T C 7: 112,149,029 S123G probably benign Het
Ep400 A G 5: 110,676,943 probably benign Het
Fam184a A G 10: 53,699,255 I30T probably damaging Het
Fam20a T C 11: 109,673,413 I505V probably benign Het
Fbxo18 T C 2: 11,764,127 D285G probably benign Het
Fcho1 T C 8: 71,716,800 E154G probably damaging Het
Klhdc1 A G 12: 69,283,184 I362M probably benign Het
Knl1 A T 2: 119,100,774 E1990D probably benign Het
Lancl2 A G 6: 57,734,039 Y394C probably damaging Het
Lgi2 G A 5: 52,565,957 S50F probably damaging Het
Map2k7 A G 8: 4,238,950 E14G probably damaging Het
Mga A G 2: 119,924,036 I1009V probably damaging Het
Nat9 C A 11: 115,183,408 probably null Het
Nek2 G A 1: 191,831,289 A422T probably benign Het
Olfr661 A T 7: 104,688,427 R137S probably benign Het
Pgap1 T A 1: 54,547,988 Q143L probably damaging Het
Pkd1l3 C T 8: 109,665,585 T1937I probably damaging Het
Pou1f1 A G 16: 65,529,898 E128G probably damaging Het
Ppfia3 T C 7: 45,340,572 probably benign Het
Prkd1 T C 12: 50,387,263 I566V probably benign Het
Psd2 A G 18: 36,005,906 R528G probably damaging Het
Ptprg G T 14: 12,110,080 E263* probably null Het
Radil T C 5: 142,543,821 D40G probably benign Het
Ryr2 T A 13: 11,735,556 Y1943F probably damaging Het
Slc30a4 C T 2: 122,702,027 probably benign Het
Slc31a1 A T 4: 62,388,004 T120S possibly damaging Het
Snrpe A G 1: 133,609,749 probably benign Het
Stx3 G T 19: 11,818,682 probably benign Het
Ufsp1 T A 5: 137,294,916 C43S probably damaging Het
Vac14 T A 8: 110,653,318 M416K possibly damaging Het
Vmn1r81 A C 7: 12,259,865 V272G possibly damaging Het
Vmn2r107 T A 17: 20,357,800 I457K probably benign Het
Vmn2r72 A T 7: 85,738,166 V730E probably benign Het
Vmn2r9 T C 5: 108,847,567 Y405C probably damaging Het
Zcchc17 T C 4: 130,316,647 *242W probably null Het
Zfp503 T C 14: 21,987,286 K83R possibly damaging Het
Other mutations in Nfkbiz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Nfkbiz APN 16 55817909 missense probably benign
IGL01324:Nfkbiz APN 16 55815804 missense probably damaging 1.00
IGL02627:Nfkbiz APN 16 55816351 missense probably damaging 1.00
IGL02740:Nfkbiz APN 16 55817954 missense probably benign
R0349:Nfkbiz UTSW 16 55818991 critical splice donor site probably null
R0539:Nfkbiz UTSW 16 55817879 missense probably benign 0.08
R0827:Nfkbiz UTSW 16 55816367 missense probably damaging 1.00
R1403:Nfkbiz UTSW 16 55816470 splice site probably benign
R1743:Nfkbiz UTSW 16 55816394 missense possibly damaging 0.82
R2090:Nfkbiz UTSW 16 55816455 missense probably benign 0.01
R2163:Nfkbiz UTSW 16 55818218 missense probably benign 0.00
R3195:Nfkbiz UTSW 16 55819628 missense probably damaging 1.00
R3974:Nfkbiz UTSW 16 55818436 missense probably benign 0.42
R4513:Nfkbiz UTSW 16 55816841 missense probably benign 0.20
R4765:Nfkbiz UTSW 16 55819024 critical splice acceptor site probably null
R4864:Nfkbiz UTSW 16 55818424 missense probably damaging 1.00
R5134:Nfkbiz UTSW 16 55818500 missense probably damaging 1.00
R5265:Nfkbiz UTSW 16 55819641 missense probably damaging 1.00
R5510:Nfkbiz UTSW 16 55814020 missense probably damaging 1.00
R6327:Nfkbiz UTSW 16 55821962 missense probably damaging 1.00
R7083:Nfkbiz UTSW 16 55818300 missense possibly damaging 0.88
R7369:Nfkbiz UTSW 16 55821846 missense probably damaging 1.00
R7650:Nfkbiz UTSW 16 55817839 missense probably benign 0.34
R7941:Nfkbiz UTSW 16 55821944 missense probably damaging 0.98
R8193:Nfkbiz UTSW 16 55821851 missense probably damaging 0.96
R8402:Nfkbiz UTSW 16 55816387 missense probably damaging 0.98
Z1088:Nfkbiz UTSW 16 55816438 missense probably damaging 1.00
Z1088:Nfkbiz UTSW 16 55818236 missense probably damaging 1.00
Posted On2015-04-16