Incidental Mutation 'R3915:Ikzf3'
ID 309609
Institutional Source Beutler Lab
Gene Symbol Ikzf3
Ensembl Gene ENSMUSG00000018168
Gene Name IKAROS family zinc finger 3
Synonyms Zfpn1a3, 5830411O07Rik, Aiolos
MMRRC Submission 040913-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3915 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 98355728-98436857 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98381412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 56 (D56G)
Ref Sequence ENSEMBL: ENSMUSP00000099430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103141]
AlphaFold O08900
Predicted Effect probably damaging
Transcript: ENSMUST00000103141
AA Change: D56G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099430
Gene: ENSMUSG00000018168
AA Change: D56G

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
Meta Mutation Damage Score 0.1033 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (43/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik G A 5: 3,627,248 (GRCm39) V75I possibly damaging Het
AA986860 A G 1: 130,670,344 (GRCm39) K189E probably benign Het
Abcf1 C T 17: 36,270,402 (GRCm39) R596H possibly damaging Het
Abtb3 C A 10: 85,468,134 (GRCm39) H810N probably damaging Het
Axl T C 7: 25,460,169 (GRCm39) probably benign Het
Birc6 A G 17: 74,886,603 (GRCm39) K644E probably benign Het
Btnl7-ps T A 17: 34,760,489 (GRCm39) noncoding transcript Het
Car8 A T 4: 8,184,576 (GRCm39) probably benign Het
Ccdc62 C T 5: 124,092,778 (GRCm39) R588C probably damaging Het
Clasp2 T G 9: 113,737,805 (GRCm39) S374A probably damaging Het
Ctnnb1 A G 9: 120,784,717 (GRCm39) H503R probably benign Het
Cwf19l2 A G 9: 3,456,776 (GRCm39) H703R probably damaging Het
Efcab7 A T 4: 99,735,375 (GRCm39) Q133L probably damaging Het
Ehmt2 T C 17: 35,122,443 (GRCm39) S280P probably damaging Het
Eif4a3l1 A T 6: 136,306,420 (GRCm39) T294S probably benign Het
Eomes A G 9: 118,310,341 (GRCm39) M351V probably benign Het
Ets2 G A 16: 95,520,037 (GRCm39) R421H probably damaging Het
Fam222b C G 11: 78,045,756 (GRCm39) P439R probably benign Het
Gbp11 T A 5: 105,478,978 (GRCm39) K153N probably damaging Het
Golim4 T C 3: 75,810,634 (GRCm39) T174A probably damaging Het
Grid1 A G 14: 35,242,684 (GRCm39) Y679C probably damaging Het
Gvin-ps5 A G 7: 105,929,445 (GRCm39) S151P probably benign Het
Kcnj16 A G 11: 110,916,382 (GRCm39) D348G probably benign Het
Kidins220 T C 12: 25,103,957 (GRCm39) L1319P possibly damaging Het
Lrp1b T A 2: 41,339,248 (GRCm39) D751V probably damaging Het
Macc1 T C 12: 119,410,551 (GRCm39) C440R probably benign Het
Mbd2 T C 18: 70,755,680 (GRCm39) V382A probably benign Het
Or13a17 T A 7: 140,270,888 (GRCm39) D23E probably benign Het
Or51a25 C T 7: 102,373,409 (GRCm39) R96H possibly damaging Het
Or6c68 G A 10: 129,158,178 (GRCm39) A229T probably benign Het
Pgs1 T G 11: 117,910,472 (GRCm39) S528A probably benign Het
Pitpnm3 T C 11: 72,003,110 (GRCm39) T67A probably damaging Het
Pnliprp2 T G 19: 58,748,794 (GRCm39) V33G probably damaging Het
Ptn T C 6: 36,720,282 (GRCm39) N90S probably damaging Het
Ptprt A T 2: 161,397,475 (GRCm39) probably benign Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Rasgrp1 G A 2: 117,119,122 (GRCm39) S505F probably damaging Het
Sesn1 G A 10: 41,770,886 (GRCm39) R139H probably benign Het
Slc17a7 T A 7: 44,818,144 (GRCm39) L23Q probably damaging Het
Slc30a10 G T 1: 185,187,333 (GRCm39) E25* probably null Het
Smco1 A G 16: 32,092,583 (GRCm39) I85V probably benign Het
Vmn1r76 A T 7: 11,664,496 (GRCm39) S239R probably benign Het
Zc3h7a A T 16: 10,974,074 (GRCm39) V237D possibly damaging Het
Other mutations in Ikzf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01477:Ikzf3 APN 11 98,379,683 (GRCm39) missense probably damaging 1.00
IGL01537:Ikzf3 APN 11 98,407,718 (GRCm39) missense probably damaging 1.00
IGL03376:Ikzf3 APN 11 98,379,779 (GRCm39) missense probably damaging 1.00
R0030:Ikzf3 UTSW 11 98,358,438 (GRCm39) missense probably benign 0.01
R0266:Ikzf3 UTSW 11 98,358,143 (GRCm39) missense probably benign
R1302:Ikzf3 UTSW 11 98,407,746 (GRCm39) missense probably benign
R1464:Ikzf3 UTSW 11 98,407,731 (GRCm39) missense probably benign 0.00
R1464:Ikzf3 UTSW 11 98,407,731 (GRCm39) missense probably benign 0.00
R1500:Ikzf3 UTSW 11 98,409,521 (GRCm39) missense probably benign 0.16
R1531:Ikzf3 UTSW 11 98,381,272 (GRCm39) missense probably damaging 0.98
R1599:Ikzf3 UTSW 11 98,357,919 (GRCm39) missense probably damaging 1.00
R1623:Ikzf3 UTSW 11 98,381,157 (GRCm39) critical splice donor site probably null
R2154:Ikzf3 UTSW 11 98,376,475 (GRCm39) nonsense probably null
R4004:Ikzf3 UTSW 11 98,379,843 (GRCm39) missense probably damaging 1.00
R4005:Ikzf3 UTSW 11 98,379,843 (GRCm39) missense probably damaging 1.00
R4075:Ikzf3 UTSW 11 98,358,469 (GRCm39) nonsense probably null
R4210:Ikzf3 UTSW 11 98,381,313 (GRCm39) missense probably benign 0.00
R4804:Ikzf3 UTSW 11 98,381,400 (GRCm39) missense probably benign 0.20
R5107:Ikzf3 UTSW 11 98,381,302 (GRCm39) missense probably damaging 1.00
R5266:Ikzf3 UTSW 11 98,381,406 (GRCm39) missense probably benign 0.11
R5267:Ikzf3 UTSW 11 98,381,406 (GRCm39) missense probably benign 0.11
R5450:Ikzf3 UTSW 11 98,357,912 (GRCm39) missense probably damaging 1.00
R6237:Ikzf3 UTSW 11 98,357,879 (GRCm39) missense probably damaging 1.00
R6557:Ikzf3 UTSW 11 98,407,707 (GRCm39) missense probably benign
R7832:Ikzf3 UTSW 11 98,409,525 (GRCm39) missense probably benign
R8058:Ikzf3 UTSW 11 98,407,753 (GRCm39) nonsense probably null
R8073:Ikzf3 UTSW 11 98,358,255 (GRCm39) missense probably benign 0.05
R9564:Ikzf3 UTSW 11 98,358,032 (GRCm39) missense probably damaging 1.00
Z1176:Ikzf3 UTSW 11 98,358,007 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-17