Incidental Mutation 'R7256:Ikzf2'
ID 574564
Institutional Source Beutler Lab
Gene Symbol Ikzf2
Ensembl Gene ENSMUSG00000025997
Gene Name IKAROS family zinc finger 2
Synonyms A730095J18Rik, Helios, Zfpn1a2
MMRRC Submission 045317-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7256 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 69570373-69726404 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 69617212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027146] [ENSMUST00000027146] [ENSMUST00000187184] [ENSMUST00000187184] [ENSMUST00000188110] [ENSMUST00000188110] [ENSMUST00000190016] [ENSMUST00000190016] [ENSMUST00000190771] [ENSMUST00000190771] [ENSMUST00000190855] [ENSMUST00000190855] [ENSMUST00000191262]
AlphaFold P81183
Predicted Effect probably null
Transcript: ENSMUST00000027146
SMART Domains Protein: ENSMUSP00000027146
Gene: ENSMUSG00000025997

DomainStartEndE-ValueType
low complexity region 76 89 N/A INTRINSIC
ZnF_C2H2 112 134 7.67e-2 SMART
ZnF_C2H2 140 162 1.72e-4 SMART
ZnF_C2H2 168 190 3.95e-4 SMART
ZnF_C2H2 196 219 3.58e-2 SMART
ZnF_C2H2 471 493 9.46e0 SMART
ZnF_C2H2 499 523 6.13e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000027146
SMART Domains Protein: ENSMUSP00000027146
Gene: ENSMUSG00000025997

DomainStartEndE-ValueType
low complexity region 76 89 N/A INTRINSIC
ZnF_C2H2 112 134 7.67e-2 SMART
ZnF_C2H2 140 162 1.72e-4 SMART
ZnF_C2H2 168 190 3.95e-4 SMART
ZnF_C2H2 196 219 3.58e-2 SMART
ZnF_C2H2 471 493 9.46e0 SMART
ZnF_C2H2 499 523 6.13e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000187184
SMART Domains Protein: ENSMUSP00000141075
Gene: ENSMUSG00000025997

DomainStartEndE-ValueType
low complexity region 76 89 N/A INTRINSIC
ZnF_C2H2 114 136 1.72e-4 SMART
ZnF_C2H2 142 164 3.95e-4 SMART
ZnF_C2H2 170 193 3.58e-2 SMART
ZnF_C2H2 445 467 9.46e0 SMART
ZnF_C2H2 473 497 6.13e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000187184
SMART Domains Protein: ENSMUSP00000141075
Gene: ENSMUSG00000025997

DomainStartEndE-ValueType
low complexity region 76 89 N/A INTRINSIC
ZnF_C2H2 114 136 1.72e-4 SMART
ZnF_C2H2 142 164 3.95e-4 SMART
ZnF_C2H2 170 193 3.58e-2 SMART
ZnF_C2H2 445 467 9.46e0 SMART
ZnF_C2H2 473 497 6.13e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000188110
SMART Domains Protein: ENSMUSP00000140069
Gene: ENSMUSG00000025997

DomainStartEndE-ValueType
low complexity region 76 89 N/A INTRINSIC
ZnF_C2H2 114 136 7.3e-7 SMART
ZnF_C2H2 142 164 1.6e-6 SMART
ZnF_C2H2 399 421 4e-2 SMART
ZnF_C2H2 427 451 2.6e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000188110
SMART Domains Protein: ENSMUSP00000140069
Gene: ENSMUSG00000025997

DomainStartEndE-ValueType
low complexity region 76 89 N/A INTRINSIC
ZnF_C2H2 114 136 7.3e-7 SMART
ZnF_C2H2 142 164 1.6e-6 SMART
ZnF_C2H2 399 421 4e-2 SMART
ZnF_C2H2 427 451 2.6e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000190016
SMART Domains Protein: ENSMUSP00000140378
Gene: ENSMUSG00000025997

DomainStartEndE-ValueType
low complexity region 76 89 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000190016
SMART Domains Protein: ENSMUSP00000140378
Gene: ENSMUSG00000025997

DomainStartEndE-ValueType
low complexity region 76 89 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000190771
SMART Domains Protein: ENSMUSP00000139543
Gene: ENSMUSG00000025997

DomainStartEndE-ValueType
low complexity region 82 95 N/A INTRINSIC
ZnF_C2H2 118 140 3.2e-4 SMART
ZnF_C2H2 146 168 7.3e-7 SMART
ZnF_C2H2 174 196 1.6e-6 SMART
ZnF_C2H2 202 225 1.5e-4 SMART
ZnF_C2H2 477 499 4e-2 SMART
ZnF_C2H2 505 529 2.6e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000190771
SMART Domains Protein: ENSMUSP00000139543
Gene: ENSMUSG00000025997

DomainStartEndE-ValueType
low complexity region 82 95 N/A INTRINSIC
ZnF_C2H2 118 140 3.2e-4 SMART
ZnF_C2H2 146 168 7.3e-7 SMART
ZnF_C2H2 174 196 1.6e-6 SMART
ZnF_C2H2 202 225 1.5e-4 SMART
ZnF_C2H2 477 499 4e-2 SMART
ZnF_C2H2 505 529 2.6e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000190855
SMART Domains Protein: ENSMUSP00000140043
Gene: ENSMUSG00000025997

DomainStartEndE-ValueType
low complexity region 76 89 N/A INTRINSIC
ZnF_C2H2 114 136 7.3e-7 SMART
ZnF_C2H2 142 164 1.6e-6 SMART
ZnF_C2H2 170 193 1.5e-4 SMART
ZnF_C2H2 397 419 4e-2 SMART
ZnF_C2H2 425 449 2.6e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000190855
SMART Domains Protein: ENSMUSP00000140043
Gene: ENSMUSG00000025997

DomainStartEndE-ValueType
low complexity region 76 89 N/A INTRINSIC
ZnF_C2H2 114 136 7.3e-7 SMART
ZnF_C2H2 142 164 1.6e-6 SMART
ZnF_C2H2 170 193 1.5e-4 SMART
ZnF_C2H2 397 419 4e-2 SMART
ZnF_C2H2 425 449 2.6e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000191262
SMART Domains Protein: ENSMUSP00000139530
Gene: ENSMUSG00000025997

DomainStartEndE-ValueType
ZnF_C2H2 51 74 1.5e-4 SMART
ZnF_C2H2 326 348 4e-2 SMART
ZnF_C2H2 354 378 2.6e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (70/71)
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 protein forms homo- or hetero-dimers with other Ikaros family members, and is thought to function predominantly in early hematopoietic development. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit postnatal lethality for unknown reasons. Survivors have decreased body weight. Postnatal lethality has complete penetrance on the C57BL/6 strain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 A G 16: 85,659,923 (GRCm39) Y790H probably damaging Het
Bend3 A C 10: 43,369,667 (GRCm39) S7R probably benign Het
Ccdc106 A G 7: 5,063,325 (GRCm39) T277A probably damaging Het
Ccdc162 G A 10: 41,431,997 (GRCm39) A1832V probably damaging Het
Ccser1 A G 6: 61,288,851 (GRCm39) E338G probably benign Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cecr2 T C 6: 120,739,490 (GRCm39) S1406P probably benign Het
Cep290 A G 10: 100,382,360 (GRCm39) T208A probably damaging Het
Cep85l A C 10: 53,172,351 (GRCm39) C569W probably damaging Het
Ces5a G A 8: 94,226,154 (GRCm39) T527I probably benign Het
Clca3a2 T A 3: 144,796,608 (GRCm39) I200F probably damaging Het
Cmas G A 6: 142,716,312 (GRCm39) D251N probably damaging Het
Ctcfl G T 2: 172,960,268 (GRCm39) A105E probably benign Het
Dclk2 C T 3: 86,700,566 (GRCm39) R638H probably damaging Het
Dctn6 A T 8: 34,557,962 (GRCm39) I170N probably damaging Het
Dnah2 T C 11: 69,321,920 (GRCm39) Y3800C probably damaging Het
Dsg2 G A 18: 20,724,988 (GRCm39) V465I possibly damaging Het
Dzip1 T C 14: 119,123,058 (GRCm39) T646A probably benign Het
Etv4 T A 11: 101,675,151 (GRCm39) probably null Het
Exoc3l2 T C 7: 19,218,628 (GRCm39) V549A unknown Het
Ficd G T 5: 113,876,880 (GRCm39) A352S probably damaging Het
Fry T G 5: 150,390,251 (GRCm39) I179S Het
Galntl5 A G 5: 25,400,298 (GRCm39) H109R probably benign Het
Garem1 C A 18: 21,281,811 (GRCm39) G182W probably damaging Het
Gm5916 A T 9: 36,032,285 (GRCm39) Y50N possibly damaging Het
Gtf2h2 A T 13: 100,615,709 (GRCm39) F271I probably benign Het
Hivep2 G T 10: 14,004,845 (GRCm39) S481I probably benign Het
Homez T A 14: 55,094,877 (GRCm39) Q277L probably damaging Het
Hoxb4 C A 11: 96,210,722 (GRCm39) probably null Het
Igll1 A G 16: 16,678,957 (GRCm39) S118P probably damaging Het
Kif5b A G 18: 6,225,340 (GRCm39) V230A probably damaging Het
Ldlr T A 9: 21,657,040 (GRCm39) V719E probably benign Het
Lsm7 G A 10: 80,689,565 (GRCm39) R66W possibly damaging Het
Map3k13 T A 16: 21,710,988 (GRCm39) D90E probably benign Het
Mmrn1 A G 6: 60,953,098 (GRCm39) K460E probably damaging Het
Myh10 A C 11: 68,681,515 (GRCm39) N1061H probably damaging Het
Nepn A G 10: 52,277,089 (GRCm39) Q275R probably benign Het
Noc3l A T 19: 38,800,800 (GRCm39) D227E probably benign Het
Nploc4 G T 11: 120,319,376 (GRCm39) S61R probably benign Het
Nr4a2 T C 2: 57,002,381 (GRCm39) Y24C probably damaging Het
Nup160 T A 2: 90,553,699 (GRCm39) I1143N probably damaging Het
Or14a256 G T 7: 86,264,873 (GRCm39) H327N probably benign Het
Or4a15 A T 2: 89,192,838 (GRCm39) Y312N probably benign Het
Or8c17 T A 9: 38,180,004 (GRCm39) M57K probably damaging Het
Or8h7 A G 2: 86,720,956 (GRCm39) S188P probably damaging Het
Papola T A 12: 105,775,604 (GRCm39) C204S probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pgap1 A T 1: 54,532,366 (GRCm39) probably null Het
Pitrm1 A G 13: 6,606,633 (GRCm39) H229R probably damaging Het
Plcl1 A G 1: 55,737,377 (GRCm39) Q906R probably benign Het
Ppfia3 T C 7: 44,991,167 (GRCm39) N1018S probably benign Het
Pramel24 T A 4: 143,452,849 (GRCm39) D93E probably benign Het
Prkd1 A G 12: 50,435,125 (GRCm39) V534A possibly damaging Het
Pygm A T 19: 6,435,926 (GRCm39) I126F probably benign Het
Rag1 T C 2: 101,472,415 (GRCm39) Y909C probably damaging Het
Rasgrf2 G A 13: 92,032,637 (GRCm39) Q560* probably null Het
Rbp3 A T 14: 33,684,540 (GRCm39) I1190F possibly damaging Het
Reln T C 5: 22,183,921 (GRCm39) K1693E probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rsph3a A G 17: 8,165,002 (GRCm39) T121A probably benign Het
Rufy3 A G 5: 88,762,806 (GRCm39) N112S possibly damaging Het
Ryr3 G A 2: 112,502,591 (GRCm39) Q3548* probably null Het
Sardh A T 2: 27,108,824 (GRCm39) V637D probably benign Het
Spata16 T C 3: 26,722,016 (GRCm39) V179A probably benign Het
Spopfm2 T C 3: 94,083,667 (GRCm39) E48G probably benign Het
Tbc1d30 G A 10: 121,124,870 (GRCm39) T319I probably damaging Het
Tlr2 T A 3: 83,744,913 (GRCm39) Q390L possibly damaging Het
Tmem53 C T 4: 117,109,237 (GRCm39) probably null Het
Vmn1r113 T A 7: 20,521,370 (GRCm39) I54N probably damaging Het
Vmn1r223 A C 13: 23,434,036 (GRCm39) Y210S probably damaging Het
Zbbx A T 3: 74,947,205 (GRCm39) H670Q probably benign Het
Other mutations in Ikzf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Ikzf2 APN 1 69,578,481 (GRCm39) missense possibly damaging 0.77
IGL01295:Ikzf2 APN 1 69,617,146 (GRCm39) missense probably benign 0.13
IGL01313:Ikzf2 APN 1 69,578,589 (GRCm39) missense probably damaging 0.98
IGL01390:Ikzf2 APN 1 69,609,801 (GRCm39) missense probably damaging 1.00
IGL01862:Ikzf2 APN 1 69,578,057 (GRCm39) missense probably damaging 0.99
Freefall UTSW 1 69,578,256 (GRCm39) nonsense probably null
Wigwam UTSW 1 69,616,955 (GRCm39) nonsense probably null
R1079:Ikzf2 UTSW 1 69,578,264 (GRCm39) missense possibly damaging 0.62
R1368:Ikzf2 UTSW 1 69,578,474 (GRCm39) missense possibly damaging 0.95
R1661:Ikzf2 UTSW 1 69,577,973 (GRCm39) missense probably damaging 0.99
R1665:Ikzf2 UTSW 1 69,577,973 (GRCm39) missense probably damaging 0.99
R1688:Ikzf2 UTSW 1 69,581,439 (GRCm39) missense possibly damaging 0.77
R1726:Ikzf2 UTSW 1 69,587,847 (GRCm39) missense probably damaging 1.00
R1829:Ikzf2 UTSW 1 69,581,446 (GRCm39) missense probably benign 0.34
R1860:Ikzf2 UTSW 1 69,609,661 (GRCm39) missense probably damaging 1.00
R2507:Ikzf2 UTSW 1 69,578,447 (GRCm39) missense probably benign 0.11
R4457:Ikzf2 UTSW 1 69,723,347 (GRCm39) unclassified probably benign
R5633:Ikzf2 UTSW 1 69,578,256 (GRCm39) nonsense probably null
R5666:Ikzf2 UTSW 1 69,617,059 (GRCm39) missense probably benign 0.04
R5670:Ikzf2 UTSW 1 69,617,059 (GRCm39) missense probably benign 0.04
R5836:Ikzf2 UTSW 1 69,578,546 (GRCm39) missense probably damaging 1.00
R5950:Ikzf2 UTSW 1 69,722,403 (GRCm39) missense probably damaging 1.00
R6492:Ikzf2 UTSW 1 69,578,201 (GRCm39) missense probably damaging 1.00
R6758:Ikzf2 UTSW 1 69,578,059 (GRCm39) missense probably damaging 0.97
R6809:Ikzf2 UTSW 1 69,609,661 (GRCm39) missense probably damaging 1.00
R6946:Ikzf2 UTSW 1 69,616,955 (GRCm39) nonsense probably null
R6959:Ikzf2 UTSW 1 69,577,929 (GRCm39) makesense probably null
R7044:Ikzf2 UTSW 1 69,578,060 (GRCm39) missense possibly damaging 0.93
R7236:Ikzf2 UTSW 1 69,578,240 (GRCm39) missense probably benign 0.00
R7488:Ikzf2 UTSW 1 69,578,544 (GRCm39) missense probably benign 0.45
R7731:Ikzf2 UTSW 1 69,578,302 (GRCm39) missense possibly damaging 0.94
R7863:Ikzf2 UTSW 1 69,609,796 (GRCm39) missense possibly damaging 0.96
R8401:Ikzf2 UTSW 1 69,578,255 (GRCm39) missense probably damaging 0.98
R8401:Ikzf2 UTSW 1 69,578,254 (GRCm39) missense probably damaging 1.00
R8471:Ikzf2 UTSW 1 69,578,499 (GRCm39) missense probably benign 0.01
R8724:Ikzf2 UTSW 1 69,617,100 (GRCm39) missense probably benign 0.00
R8870:Ikzf2 UTSW 1 69,722,417 (GRCm39) missense possibly damaging 0.87
R9035:Ikzf2 UTSW 1 69,578,637 (GRCm39) nonsense probably null
R9108:Ikzf2 UTSW 1 69,577,956 (GRCm39) missense probably damaging 1.00
R9370:Ikzf2 UTSW 1 69,578,018 (GRCm39) missense probably damaging 1.00
R9524:Ikzf2 UTSW 1 69,578,337 (GRCm39) missense probably benign 0.00
R9763:Ikzf2 UTSW 1 69,587,835 (GRCm39) missense possibly damaging 0.70
X0027:Ikzf2 UTSW 1 69,617,011 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGTTTACCATTCGGAAGCC -3'
(R):5'- AAGTGAAGGGCCCTTTGTTC -3'

Sequencing Primer
(F):5'- GAAGCCGGATTCCTCCCTC -3'
(R):5'- GTTCACCAAGAGTACTCCTGAGCTG -3'
Posted On 2019-09-18