Incidental Mutation 'IGL03376:Ikzf3'
ID 420492
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ikzf3
Ensembl Gene ENSMUSG00000018168
Gene Name IKAROS family zinc finger 3
Synonyms Zfpn1a3, Aiolos, 5830411O07Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03376
Quality Score
Status
Chromosome 11
Chromosomal Location 98464902-98546031 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98488953 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 163 (H163L)
Ref Sequence ENSEMBL: ENSMUSP00000099430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103141]
AlphaFold O08900
Predicted Effect probably damaging
Transcript: ENSMUST00000103141
AA Change: H163L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099430
Gene: ENSMUSG00000018168
AA Change: H163L

DomainStartEndE-ValueType
ZnF_C2H2 117 139 4.34e0 SMART
ZnF_C2H2 145 167 8.02e-5 SMART
ZnF_C2H2 173 195 4.47e-3 SMART
ZnF_C2H2 201 221 7.11e0 SMART
ZnF_C2H2 450 472 7.11e0 SMART
ZnF_C2H2 478 502 1.64e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140876
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 encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygous mutants exhibit greatly reduced B cell populations in the peritoneum, marginal zone and recirculating bone marrow. Aging mutants express autoantibodies, frequently develop B cell lymphomas, and display symptoms characteristic of SLE. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v1b2 T C 8: 69,102,159 probably benign Het
Ccdc122 A G 14: 77,068,912 E41G probably damaging Het
Cdh3 C T 8: 106,541,404 T357I probably benign Het
Cfap57 T A 4: 118,584,720 Q717L probably damaging Het
Cfap58 A T 19: 48,034,725 T859S possibly damaging Het
Cmtr1 C T 17: 29,691,411 R497C probably benign Het
Csmd2 T C 4: 128,517,671 I2494T probably benign Het
Dmkn C T 7: 30,771,242 T385I possibly damaging Het
Eml3 A G 19: 8,933,790 D260G probably damaging Het
Gbf1 T C 19: 46,262,521 F493L possibly damaging Het
Gjb5 C T 4: 127,356,255 R32H probably damaging Het
Hpx C T 7: 105,592,251 probably benign Het
Irak3 G A 10: 120,146,636 probably benign Het
Itih5 G A 2: 10,206,773 V275I probably benign Het
Klc1 G T 12: 111,775,953 E174D probably damaging Het
Ly6g6e A G 17: 35,078,232 *108W probably null Het
Mcph1 T C 8: 18,596,973 S31P probably damaging Het
Mettl4 A T 17: 94,735,371 S346T probably damaging Het
Myo3a A T 2: 22,600,074 probably benign Het
Olfr703 T A 7: 106,845,470 N286K probably damaging Het
Otol1 A G 3: 70,027,512 E279G probably damaging Het
Pappa T A 4: 65,196,834 N722K probably benign Het
Pramel7 A G 2: 87,489,603 S449P probably damaging Het
Rassf9 A G 10: 102,545,198 N145S probably damaging Het
Robo2 T C 16: 73,956,492 I158M probably damaging Het
Sbf1 A G 15: 89,289,016 probably benign Het
Slc30a8 C T 15: 52,306,457 R27* probably null Het
Tmco2 T A 4: 121,109,052 T36S probably benign Het
Tns4 T C 11: 99,078,556 S360G probably benign Het
Vwa8 A G 14: 79,183,134 probably null Het
Wwc1 C T 11: 35,852,294 R900Q possibly damaging Het
Zzef1 T C 11: 72,876,551 probably benign Het
Other mutations in Ikzf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01477:Ikzf3 APN 11 98488857 missense probably damaging 1.00
IGL01537:Ikzf3 APN 11 98516892 missense probably damaging 1.00
R0030:Ikzf3 UTSW 11 98467612 missense probably benign 0.01
R0266:Ikzf3 UTSW 11 98467317 missense probably benign
R1302:Ikzf3 UTSW 11 98516920 missense probably benign
R1464:Ikzf3 UTSW 11 98516905 missense probably benign 0.00
R1464:Ikzf3 UTSW 11 98516905 missense probably benign 0.00
R1500:Ikzf3 UTSW 11 98518695 missense probably benign 0.16
R1531:Ikzf3 UTSW 11 98490446 missense probably damaging 0.98
R1599:Ikzf3 UTSW 11 98467093 missense probably damaging 1.00
R1623:Ikzf3 UTSW 11 98490331 critical splice donor site probably null
R2154:Ikzf3 UTSW 11 98485649 nonsense probably null
R3915:Ikzf3 UTSW 11 98490586 missense probably damaging 1.00
R4004:Ikzf3 UTSW 11 98489017 missense probably damaging 1.00
R4005:Ikzf3 UTSW 11 98489017 missense probably damaging 1.00
R4075:Ikzf3 UTSW 11 98467643 nonsense probably null
R4210:Ikzf3 UTSW 11 98490487 missense probably benign 0.00
R4804:Ikzf3 UTSW 11 98490574 missense probably benign 0.20
R5107:Ikzf3 UTSW 11 98490476 missense probably damaging 1.00
R5266:Ikzf3 UTSW 11 98490580 missense probably benign 0.11
R5267:Ikzf3 UTSW 11 98490580 missense probably benign 0.11
R5450:Ikzf3 UTSW 11 98467086 missense probably damaging 1.00
R6237:Ikzf3 UTSW 11 98467053 missense probably damaging 1.00
R6557:Ikzf3 UTSW 11 98516881 missense probably benign
R7832:Ikzf3 UTSW 11 98518699 missense probably benign
R8058:Ikzf3 UTSW 11 98516927 nonsense probably null
R8073:Ikzf3 UTSW 11 98467429 missense probably benign 0.05
Z1176:Ikzf3 UTSW 11 98467181 missense probably benign 0.01
Posted On 2016-08-02