Incidental Mutation 'R8073:Ikzf3'
ID 620366
Institutional Source Beutler Lab
Gene Symbol Ikzf3
Ensembl Gene ENSMUSG00000018168
Gene Name IKAROS family zinc finger 3
Synonyms Zfpn1a3, 5830411O07Rik, Aiolos
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8073 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 98355728-98436857 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98358255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 361 (K361E)
Ref Sequence ENSEMBL: ENSMUSP00000099430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103141]
AlphaFold O08900
Predicted Effect probably benign
Transcript: ENSMUST00000103141
AA Change: K361E

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000099430
Gene: ENSMUSG00000018168
AA Change: K361E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,337,019 (GRCm39) V533I probably benign Het
Akap3 A T 6: 126,842,736 (GRCm39) T452S probably damaging Het
Angpt1 C T 15: 42,301,699 (GRCm39) M436I probably benign Het
B3galt4 T C 17: 34,169,797 (GRCm39) K147R probably damaging Het
Birc6 C A 17: 74,910,080 (GRCm39) T1491K probably damaging Het
Boll T C 1: 55,394,881 (GRCm39) probably benign Het
C6 T C 15: 4,764,675 (GRCm39) F124L probably benign Het
Camta1 T C 4: 151,163,281 (GRCm39) Y436C probably damaging Het
Celsr1 T C 15: 85,823,356 (GRCm39) N1684S probably benign Het
Cflar T C 1: 58,791,981 (GRCm39) L428P Het
Clk4 T C 11: 51,168,716 (GRCm39) I363T probably benign Het
Cnst A G 1: 179,434,002 (GRCm39) T273A probably benign Het
Col5a1 C T 2: 27,852,141 (GRCm39) A546V possibly damaging Het
Col6a6 T A 9: 105,659,146 (GRCm39) N600Y probably benign Het
Cxadr A G 16: 78,130,301 (GRCm39) N156S probably benign Het
Diaph1 C T 18: 38,024,850 (GRCm39) G537E unknown Het
Dmxl1 T A 18: 50,011,500 (GRCm39) V1219D probably damaging Het
Dnajb12 T A 10: 59,726,001 (GRCm39) Y95* probably null Het
Dnajc5g A G 5: 31,269,029 (GRCm39) T137A probably benign Het
Dpy19l3 G A 7: 35,429,173 (GRCm39) T89M probably damaging Het
Dusp19 C A 2: 80,447,828 (GRCm39) T34N probably benign Het
Eln CTCCAGCTCCGAT C 5: 134,758,003 (GRCm39) probably benign Het
Enpp1 A G 10: 24,555,142 (GRCm39) V68A possibly damaging Het
Epha7 T A 4: 28,821,022 (GRCm39) D62E probably damaging Het
Frmd4b A T 6: 97,283,674 (GRCm39) V445E probably benign Het
Gp9 A C 6: 87,756,336 (GRCm39) D117A probably benign Het
Haao T C 17: 84,142,649 (GRCm39) E152G possibly damaging Het
Ift70a2 A G 2: 75,806,997 (GRCm39) V505A probably damaging Het
Ighd A G 12: 113,379,789 (GRCm39) S52P probably benign Het
Lgi2 T A 5: 52,704,013 (GRCm39) E206V probably benign Het
Mfsd11 T A 11: 116,754,749 (GRCm39) V220E probably benign Het
Moxd1 G T 10: 24,128,848 (GRCm39) G200C probably damaging Het
Mthfd1l C A 10: 3,923,417 (GRCm39) Q55K probably benign Het
Nlrp9a T A 7: 26,260,260 (GRCm39) L672M probably damaging Het
Npvf A C 6: 50,631,349 (GRCm39) F9V probably damaging Het
Nup205 G T 6: 35,179,104 (GRCm39) probably null Het
Nup43 T C 10: 7,546,713 (GRCm39) V111A probably benign Het
Obscn C T 11: 59,026,516 (GRCm39) R229H probably benign Het
Olfml2a C A 2: 38,847,766 (GRCm39) R442S probably damaging Het
Or10j2 A G 1: 173,098,552 (GRCm39) D270G probably benign Het
Or2ag16 C A 7: 106,352,008 (GRCm39) E196* probably null Het
Or4c120 T A 2: 89,001,284 (GRCm39) I91F probably damaging Het
Or5b12b T A 19: 12,861,980 (GRCm39) V245E probably benign Het
Or9s13 T A 1: 92,547,806 (GRCm39) D59E probably damaging Het
Pcdhga7 T C 18: 37,848,398 (GRCm39) F135S probably damaging Het
Pde4a A T 9: 21,122,065 (GRCm39) I654F probably damaging Het
Pip5kl1 G A 2: 32,473,440 (GRCm39) R359Q possibly damaging Het
Ppp2ca T C 11: 52,010,124 (GRCm39) V244A possibly damaging Het
Qrich1 T A 9: 108,411,627 (GRCm39) L384H possibly damaging Het
Rab4a T C 8: 124,554,135 (GRCm39) V62A possibly damaging Het
Ranbp10 A G 8: 106,513,261 (GRCm39) L217P probably damaging Het
Rhebl1 C T 15: 98,776,405 (GRCm39) A131T probably benign Het
Rnf150 A T 8: 83,590,546 (GRCm39) probably benign Het
Slc32a1 G A 2: 158,456,685 (GRCm39) A447T probably damaging Het
Spag5 T A 11: 78,192,803 (GRCm39) M45K probably benign Het
Spata13 A G 14: 60,928,705 (GRCm39) N88D probably damaging Het
Spred2 C A 11: 19,958,422 (GRCm39) T128N probably benign Het
Tenm2 T C 11: 36,030,471 (GRCm39) E776G possibly damaging Het
Tet1 C G 10: 62,649,132 (GRCm39) E156Q probably damaging Het
Tmc1 T C 19: 20,845,725 (GRCm39) N166S probably benign Het
Trim43a C A 9: 88,464,490 (GRCm39) Q134K possibly damaging Het
Tsks A T 7: 44,607,305 (GRCm39) M543L probably benign Het
Ttn T C 2: 76,574,181 (GRCm39) K25571E probably damaging Het
Vamp5 C A 6: 72,357,436 (GRCm39) probably benign Het
Vmn2r79 A T 7: 86,651,462 (GRCm39) Q287L probably benign Het
Zfp326 T A 5: 106,062,682 (GRCm39) V517E unknown Het
Zfp467 A T 6: 48,414,959 (GRCm39) H564Q probably damaging Het
Zfp51 G A 17: 21,684,294 (GRCm39) C303Y probably 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
R3915:Ikzf3 UTSW 11 98,381,412 (GRCm39) missense probably damaging 1.00
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
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
(F):5'- ACCTCCTTCAGAAGAGGCATC -3'
(R):5'- CAATCCCGGCTACATGTACG -3'

Sequencing Primer
(F):5'- TTCAGAAGAGGCATCCCATTG -3'
(R):5'- TCCCGGCTACATGTACGAGAAG -3'
Posted On 2020-01-23