Incidental Mutation 'IGL01324:Nfkbiz'
ID 74165
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfkbiz
Ensembl Gene ENSMUSG00000035356
Gene Name nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, zeta
Synonyms Mail
Accession Numbers
Essential gene? Possibly essential (E-score: 0.646) question?
Stock # IGL01324
Quality Score
Status
Chromosome 16
Chromosomal Location 55631740-55659018 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55636167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 564 (T564A)
Ref Sequence ENSEMBL: ENSMUSP00000110102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036273] [ENSMUST00000096026] [ENSMUST00000114457] [ENSMUST00000114458]
AlphaFold Q9EST8
Predicted Effect probably damaging
Transcript: ENSMUST00000036273
AA Change: T564A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041173
Gene: ENSMUSG00000035356
AA Change: T564A

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: T465A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093726
Gene: ENSMUSG00000035356
AA Change: T465A

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: T465A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110101
Gene: ENSMUSG00000035356
AA Change: T465A

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: T564A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110102
Gene: ENSMUSG00000035356
AA Change: T564A

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak G A 19: 8,980,396 (GRCm39) G560D probably damaging Het
Ap1g1 T A 8: 110,559,414 (GRCm39) D239E possibly damaging Het
Ap2a1 T A 7: 44,555,120 (GRCm39) T482S probably damaging Het
BC004004 T C 17: 29,501,225 (GRCm39) L58P probably damaging Het
Camsap1 C A 2: 25,823,635 (GRCm39) V1472L possibly damaging Het
Ces3b A T 8: 105,819,884 (GRCm39) E569V probably damaging Het
Commd6 G A 14: 101,877,738 (GRCm39) probably benign Het
Ddx54 A G 5: 120,761,703 (GRCm39) D493G probably benign Het
Dync1h1 C T 12: 110,593,299 (GRCm39) R1189C probably damaging Het
Ern2 T A 7: 121,782,413 (GRCm39) I68F possibly damaging Het
Eya4 A G 10: 22,992,449 (GRCm39) probably null Het
Gda A T 19: 21,387,250 (GRCm39) I325K probably damaging Het
Gmnn T C 13: 24,936,105 (GRCm39) T190A probably benign Het
Hdac4 G A 1: 91,887,137 (GRCm39) P801S probably damaging Het
Hnrnph3 A T 10: 62,853,903 (GRCm39) *72K probably null Het
Hoxd12 A T 2: 74,505,480 (GRCm39) N17I probably damaging Het
Incenp G A 19: 9,861,092 (GRCm39) R497C unknown Het
Iqsec1 C A 6: 90,666,685 (GRCm39) R584L probably damaging Het
Kcnip1 A G 11: 33,595,603 (GRCm39) M1T probably null Het
Kcnu1 T A 8: 26,339,735 (GRCm39) S18T probably benign Het
Lepr T A 4: 101,625,265 (GRCm39) D473E probably benign Het
Nsd3 C T 8: 26,152,836 (GRCm39) T392I probably damaging Het
Or10a5 T C 7: 106,636,054 (GRCm39) S231P probably damaging Het
Or10w1 T C 19: 13,632,297 (GRCm39) I163T probably damaging Het
P4ha2 A G 11: 54,010,984 (GRCm39) D333G probably damaging Het
Parg T C 14: 32,018,142 (GRCm39) probably benign Het
Psmc2 G A 5: 22,005,007 (GRCm39) probably null Het
Rnf213 A G 11: 119,338,063 (GRCm39) Y3354C probably damaging Het
Siglec1 T G 2: 130,927,461 (GRCm39) D115A probably damaging Het
Slit3 G T 11: 35,501,529 (GRCm39) G421V probably damaging Het
Srgap3 T A 6: 112,716,358 (GRCm39) H590L probably damaging Het
Stk36 A C 1: 74,664,769 (GRCm39) T628P possibly damaging Het
Stx12 A T 4: 132,590,576 (GRCm39) M107K probably benign Het
Syne2 G T 12: 76,090,526 (GRCm39) V5105F probably damaging Het
Tecta T C 9: 42,256,727 (GRCm39) S1650G probably damaging Het
Tlr1 T C 5: 65,082,522 (GRCm39) N685S probably damaging Het
Trio A G 15: 27,905,409 (GRCm39) V60A probably benign Het
Ttyh3 G A 5: 140,617,268 (GRCm39) R334W probably benign Het
Ube2u A G 4: 100,336,422 (GRCm39) E15G possibly damaging Het
Ush2a G T 1: 188,581,189 (GRCm39) V3690L probably benign Het
Xab2 A G 8: 3,671,232 (GRCm39) V16A possibly damaging Het
Other mutations in Nfkbiz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Nfkbiz APN 16 55,638,272 (GRCm39) missense probably benign
IGL02086:Nfkbiz APN 16 55,636,034 (GRCm39) missense probably damaging 1.00
IGL02627:Nfkbiz APN 16 55,636,714 (GRCm39) missense probably damaging 1.00
IGL02740:Nfkbiz APN 16 55,638,317 (GRCm39) missense probably benign
R0349:Nfkbiz UTSW 16 55,639,354 (GRCm39) critical splice donor site probably null
R0539:Nfkbiz UTSW 16 55,638,242 (GRCm39) missense probably benign 0.08
R0827:Nfkbiz UTSW 16 55,636,730 (GRCm39) missense probably damaging 1.00
R1403:Nfkbiz UTSW 16 55,636,833 (GRCm39) splice site probably benign
R1743:Nfkbiz UTSW 16 55,636,757 (GRCm39) missense possibly damaging 0.82
R2090:Nfkbiz UTSW 16 55,636,818 (GRCm39) missense probably benign 0.01
R2163:Nfkbiz UTSW 16 55,638,581 (GRCm39) missense probably benign 0.00
R3195:Nfkbiz UTSW 16 55,639,991 (GRCm39) missense probably damaging 1.00
R3974:Nfkbiz UTSW 16 55,638,799 (GRCm39) missense probably benign 0.42
R4513:Nfkbiz UTSW 16 55,637,204 (GRCm39) missense probably benign 0.20
R4765:Nfkbiz UTSW 16 55,639,387 (GRCm39) critical splice acceptor site probably null
R4864:Nfkbiz UTSW 16 55,638,787 (GRCm39) missense probably damaging 1.00
R5134:Nfkbiz UTSW 16 55,638,863 (GRCm39) missense probably damaging 1.00
R5265:Nfkbiz UTSW 16 55,640,004 (GRCm39) missense probably damaging 1.00
R5510:Nfkbiz UTSW 16 55,634,383 (GRCm39) missense probably damaging 1.00
R6327:Nfkbiz UTSW 16 55,642,325 (GRCm39) missense probably damaging 1.00
R7083:Nfkbiz UTSW 16 55,638,663 (GRCm39) missense possibly damaging 0.88
R7369:Nfkbiz UTSW 16 55,642,209 (GRCm39) missense probably damaging 1.00
R7650:Nfkbiz UTSW 16 55,638,202 (GRCm39) missense probably benign 0.34
R7941:Nfkbiz UTSW 16 55,642,307 (GRCm39) missense probably damaging 0.98
R8193:Nfkbiz UTSW 16 55,642,214 (GRCm39) missense probably damaging 0.96
R8402:Nfkbiz UTSW 16 55,636,750 (GRCm39) missense probably damaging 0.98
R9222:Nfkbiz UTSW 16 55,634,347 (GRCm39) missense probably damaging 1.00
R9420:Nfkbiz UTSW 16 55,642,337 (GRCm39) missense probably damaging 0.99
R9457:Nfkbiz UTSW 16 55,634,347 (GRCm39) missense probably damaging 1.00
Z1088:Nfkbiz UTSW 16 55,638,599 (GRCm39) missense probably damaging 1.00
Z1088:Nfkbiz UTSW 16 55,636,801 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07