Incidental Mutation 'R7488:Ikzf2'
ID 580304
Institutional Source Beutler Lab
Gene Symbol Ikzf2
Ensembl Gene ENSMUSG00000025997
Gene Name IKAROS family zinc finger 2
Synonyms A730095J18Rik, Helios, Zfpn1a2
MMRRC Submission 045562-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7488 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 69570373-69726404 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69578544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 322 (N322Y)
Ref Sequence ENSEMBL: ENSMUSP00000027146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027146] [ENSMUST00000187184] [ENSMUST00000188110] [ENSMUST00000190771] [ENSMUST00000190855] [ENSMUST00000191262]
AlphaFold P81183
Predicted Effect probably benign
Transcript: ENSMUST00000027146
AA Change: N322Y

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027146
Gene: ENSMUSG00000025997
AA Change: N322Y

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 possibly damaging
Transcript: ENSMUST00000187184
AA Change: N296Y

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141075
Gene: ENSMUSG00000025997
AA Change: N296Y

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 benign
Transcript: ENSMUST00000188110
AA Change: N250Y

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000140069
Gene: ENSMUSG00000025997
AA Change: N250Y

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 possibly damaging
Transcript: ENSMUST00000190771
AA Change: N328Y

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139543
Gene: ENSMUSG00000025997
AA Change: N328Y

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 possibly damaging
Transcript: ENSMUST00000190855
AA Change: N248Y

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140043
Gene: ENSMUSG00000025997
AA Change: N248Y

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 possibly damaging
Transcript: ENSMUST00000191262
AA Change: N177Y

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139530
Gene: ENSMUSG00000025997
AA Change: N177Y

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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 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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,197,179 (GRCm39) F251I possibly damaging Het
Abcb11 C T 2: 69,108,146 (GRCm39) G717D probably benign Het
Abcc1 G A 16: 14,207,763 (GRCm39) W47* probably null Het
Ahnak2 A G 12: 112,748,641 (GRCm39) I402T Het
Ankfy1 G A 11: 72,650,769 (GRCm39) R984Q probably benign Het
Apaf1 A G 10: 90,890,242 (GRCm39) I598T probably benign Het
Apobec1 G T 6: 122,558,521 (GRCm39) P78Q possibly damaging Het
Asap1 A T 15: 63,991,974 (GRCm39) I737N probably benign Het
Aste1 T A 9: 105,279,904 (GRCm39) probably null Het
Bcr A C 10: 74,996,162 (GRCm39) D902A possibly damaging Het
Bicra T C 7: 15,723,367 (GRCm39) probably null Het
Ccdc27 T C 4: 154,117,424 (GRCm39) T508A probably benign Het
Ccz1 T A 5: 143,928,401 (GRCm39) N383I probably damaging Het
Cdh24 T C 14: 54,869,637 (GRCm39) D760G possibly damaging Het
Cdhr2 T C 13: 54,865,728 (GRCm39) I242T probably benign Het
Cdk4 T A 10: 126,900,106 (GRCm39) M1K probably null Het
Cfap96 A G 8: 46,415,331 (GRCm39) V225A probably benign Het
Cntn5 A T 9: 9,970,570 (GRCm39) S302T probably damaging Het
Col25a1 G T 3: 130,378,350 (GRCm39) G601V probably damaging Het
Cpb1 A G 3: 20,324,488 (GRCm39) L62P possibly damaging Het
Cpne1 T C 2: 155,919,857 (GRCm39) T264A probably benign Het
Cpvl T A 6: 53,924,727 (GRCm39) N198Y probably damaging Het
Cyp2u1 A C 3: 131,091,596 (GRCm39) L308R probably damaging Het
Ddx54 G T 5: 120,762,789 (GRCm39) V637L probably benign Het
Dglucy C A 12: 100,823,310 (GRCm39) P472T possibly damaging Het
Dync2h1 A G 9: 7,124,855 (GRCm39) Y2006H probably benign Het
Eif5b T C 1: 38,089,387 (GRCm39) M1121T possibly damaging Het
Emsy A G 7: 98,264,762 (GRCm39) V545A possibly damaging Het
Ezh1 G A 11: 101,091,726 (GRCm39) L480F possibly damaging Het
Fbln2 T A 6: 91,242,845 (GRCm39) probably null Het
Gja10 T A 4: 32,602,058 (GRCm39) K109* probably null Het
Gm28042 A G 2: 119,870,438 (GRCm39) N762S probably benign Het
Gnb1l C A 16: 18,359,220 (GRCm39) P7Q possibly damaging Het
Grem2 A T 1: 174,664,685 (GRCm39) S55T probably damaging Het
Gsn A T 2: 35,186,433 (GRCm39) N393I possibly damaging Het
H6pd T A 4: 150,067,093 (GRCm39) Q439L probably benign Het
Hmcn2 G A 2: 31,310,842 (GRCm39) G3362E probably damaging Het
Ighv11-2 T C 12: 114,011,978 (GRCm39) Y79C probably damaging Het
Il25 A G 14: 55,170,459 (GRCm39) I11V probably benign Het
Jak2 C T 19: 29,275,783 (GRCm39) T741I probably damaging Het
Kdm3b T C 18: 34,957,934 (GRCm39) S1300P probably damaging Het
Ldb3 T A 14: 34,289,402 (GRCm39) Q268L probably damaging Het
Lrrc23 T A 6: 124,756,075 (GRCm39) D6V unknown Het
Megf10 A G 18: 57,324,187 (GRCm39) Y76C probably damaging Het
Neb A T 2: 52,110,233 (GRCm39) M205K probably benign Het
Or12e8 T C 2: 87,188,597 (GRCm39) S270P probably damaging Het
Or6c2b G T 10: 128,947,605 (GRCm39) Q230K probably benign Het
Or8a1 A G 9: 37,641,983 (GRCm39) S99P probably damaging Het
Pcnx3 G A 19: 5,717,487 (GRCm39) R1541W possibly damaging Het
Pdgfd A G 9: 6,359,739 (GRCm39) Y270C probably damaging Het
Pds5b A T 5: 150,646,802 (GRCm39) D197V probably damaging Het
Pknox2 A G 9: 36,866,127 (GRCm39) M30T probably benign Het
Plekhg1 A T 10: 3,907,491 (GRCm39) S858C Het
Por A T 5: 135,762,498 (GRCm39) E400D probably benign Het
Pou2af2 C A 9: 51,201,360 (GRCm39) R232L probably damaging Het
Psip1 A G 4: 83,391,275 (GRCm39) probably null Het
Retreg1 G T 15: 25,889,628 (GRCm39) V111F Het
Rock1 G A 18: 10,122,762 (GRCm39) A353V probably damaging Het
Rpl6 C G 5: 121,346,591 (GRCm39) R231G probably benign Het
Scn7a C T 2: 66,587,574 (GRCm39) R43H probably benign Het
Scnn1g T A 7: 121,362,657 (GRCm39) N488K probably benign Het
Slc24a1 A G 9: 64,831,764 (GRCm39) V1111A probably benign Het
Snapc1 C T 12: 74,029,285 (GRCm39) S356L probably benign Het
Spata31e2 T C 1: 26,723,039 (GRCm39) T714A possibly damaging Het
Ssbp2 T A 13: 91,823,209 (GRCm39) N201K probably damaging Het
Tfdp2 A G 9: 96,179,695 (GRCm39) N43D probably damaging Het
Tmprss11d A G 5: 86,474,309 (GRCm39) I216T probably damaging Het
Tmprss4 A G 9: 45,086,853 (GRCm39) S303P probably benign Het
Tnpo2 A G 8: 85,781,663 (GRCm39) E815G probably benign Het
Trav6-1 A C 14: 52,875,972 (GRCm39) M1L possibly damaging Het
Trpm3 T C 19: 22,955,937 (GRCm39) V1133A probably damaging Het
Trpv1 C T 11: 73,129,355 (GRCm39) P91S probably benign Het
Trpv2 T C 11: 62,480,576 (GRCm39) Y338H probably damaging Het
Txnip T C 3: 96,467,539 (GRCm39) M336T probably benign Het
Vmn1r61 A T 7: 5,613,767 (GRCm39) H182Q possibly damaging Het
Vmn2r105 A G 17: 20,429,045 (GRCm39) V677A probably damaging Het
Wwp1 G T 4: 19,627,660 (GRCm39) T745K probably damaging Het
Xkr5 C A 8: 18,983,608 (GRCm39) E645* probably null Het
Zfp451 C T 1: 33,818,221 (GRCm39) R303H probably benign Het
Zyg11b T C 4: 108,123,655 (GRCm39) H104R possibly damaging 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
R7256:Ikzf2 UTSW 1 69,617,212 (GRCm39) splice site probably null
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'- GGCCATCCATGTTGTTTTCG -3'
(R):5'- AAAGGGCCCAGACACTTGAC -3'

Sequencing Primer
(F):5'- GTGACTATCAGATGTTTCCCTGC -3'
(R):5'- GAGATGTAGTGTTCAGTTAACTTCTC -3'
Posted On 2019-10-07