Incidental Mutation 'R7759:Ikzf1'
ID 597741
Institutional Source Beutler Lab
Gene Symbol Ikzf1
Ensembl Gene ENSMUSG00000018654
Gene Name IKAROS family zinc finger 1
Synonyms Zfpn1a1, 5832432G11Rik, LyF-1, Ikaros
MMRRC Submission 045815-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7759 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 11634980-11722926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11719256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 408 (I408N)
Ref Sequence ENSEMBL: ENSMUSP00000075992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018798] [ENSMUST00000065433] [ENSMUST00000076700]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000018798
AA Change: I321N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000018798
Gene: ENSMUSG00000018654
AA Change: I321N

DomainStartEndE-ValueType
ZnF_C2H2 58 80 8.02e-5 SMART
ZnF_C2H2 86 108 2.57e-3 SMART
ZnF_C2H2 114 137 8.22e-2 SMART
low complexity region 282 293 N/A INTRINSIC
ZnF_C2H2 371 393 7.49e0 SMART
ZnF_C2H2 399 423 5.34e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000065433
AA Change: I428N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000067372
Gene: ENSMUSG00000018654
AA Change: I428N

DomainStartEndE-ValueType
ZnF_C2H2 137 159 1.43e-1 SMART
ZnF_C2H2 165 187 8.02e-5 SMART
ZnF_C2H2 193 215 2.57e-3 SMART
ZnF_C2H2 221 244 8.22e-2 SMART
low complexity region 389 400 N/A INTRINSIC
ZnF_C2H2 478 500 7.49e0 SMART
ZnF_C2H2 506 530 5.34e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000076700
AA Change: I408N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075992
Gene: ENSMUSG00000018654
AA Change: I408N

DomainStartEndE-ValueType
ZnF_C2H2 117 139 1.43e-1 SMART
ZnF_C2H2 145 167 8.02e-5 SMART
ZnF_C2H2 173 195 2.57e-3 SMART
ZnF_C2H2 201 224 8.22e-2 SMART
low complexity region 369 380 N/A INTRINSIC
ZnF_C2H2 458 480 7.49e0 SMART
ZnF_C2H2 486 510 5.34e-1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to a family of transcription factors that are characterized by a set of four DNA-binding zinc fingers at the N-terminus and two C-terminal zinc fingers involved in protein dimerization. It is regulated by both epigenetic and transcription factors. This protein is a transcriptional regulator of hematopoietic cell development and homeostasis. In addition, it is required to confer temporal competence to retinal progenitor cells during embryogenesis, demonstrating an essential function in nervous system development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous mutants have a variety of T, B, and hematopoeitic cell maturation defects. Heterozygotes for one allele exhibit dominant negative effects and mice develop lymphoproliferative disorders. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G T 16: 4,682,514 (GRCm39) G215V probably benign Het
Adamts1 C A 16: 85,594,683 (GRCm39) G652C probably damaging Het
Adck1 G A 12: 88,368,887 (GRCm39) A122T possibly damaging Het
Akap1 A C 11: 88,736,659 (GRCm39) M34R probably damaging Het
Apc2 C T 10: 80,147,030 (GRCm39) R695C probably damaging Het
Apon T A 10: 128,090,384 (GRCm39) W21R probably benign Het
Arhgef16 T C 4: 154,371,432 (GRCm39) T254A probably benign Het
Arid5b T A 10: 67,933,632 (GRCm39) S757C probably damaging Het
B020004C17Rik A C 14: 57,254,242 (GRCm39) I122L possibly damaging Het
Bckdhb T G 9: 83,892,379 (GRCm39) V270G probably damaging Het
Cacna1d A G 14: 29,821,145 (GRCm39) Y1146H probably benign Het
Carmil2 A G 8: 106,423,668 (GRCm39) D1214G possibly damaging Het
Ccdc142 T C 6: 83,084,912 (GRCm39) V636A probably benign Het
Chd9 T C 8: 91,704,178 (GRCm39) probably null Het
Csmd3 A G 15: 47,561,569 (GRCm39) S1336P Het
Cubn A G 2: 13,352,961 (GRCm39) Y1926H probably damaging Het
Dock4 A T 12: 40,867,735 (GRCm39) D1437V probably damaging Het
Eme1 A T 11: 94,536,666 (GRCm39) Y504* probably null Het
Enah G A 1: 181,746,009 (GRCm39) A687V unknown Het
Endou A C 15: 97,611,747 (GRCm39) V339G probably damaging Het
Ephb6 G A 6: 41,591,539 (GRCm39) R232H probably benign Het
Ephx2 G A 14: 66,326,968 (GRCm39) A409V possibly damaging Het
Esd T A 14: 74,983,007 (GRCm39) C219* probably null Het
Fscb A T 12: 64,520,866 (GRCm39) M200K probably benign Het
Gabra6 A T 11: 42,208,508 (GRCm39) V108D probably damaging Het
Gm11555 A G 11: 99,540,568 (GRCm39) V137A unknown Het
Gpld1 A G 13: 25,146,383 (GRCm39) D209G probably damaging Het
Itgb4 A G 11: 115,894,536 (GRCm39) R1364G possibly damaging Het
Kif26b A C 1: 178,506,509 (GRCm39) K195T probably damaging Het
Mfsd12 T C 10: 81,199,427 (GRCm39) W440R probably benign Het
Mtrr C T 13: 68,718,146 (GRCm39) E373K probably damaging Het
Mug2 T A 6: 122,058,317 (GRCm39) V1293E probably damaging Het
Myof C A 19: 37,928,346 (GRCm39) A1068S probably benign Het
Ncam2 A G 16: 81,412,672 (GRCm39) D720G probably damaging Het
Nova2 G T 7: 18,692,176 (GRCm39) G435V Het
Oacyl T A 18: 65,843,631 (GRCm39) D109E probably damaging Het
Or2y1g A T 11: 49,171,463 (GRCm39) M163L probably benign Het
Or56a4 G A 7: 104,806,232 (GRCm39) S219F probably damaging Het
Pdcd11 G A 19: 47,101,637 (GRCm39) V941M possibly damaging Het
Pdzd8 C A 19: 59,288,358 (GRCm39) R1014L probably damaging Het
Ppm1h T G 10: 122,740,018 (GRCm39) D364E probably benign Het
Rigi C A 4: 40,225,104 (GRCm39) A298S probably damaging Het
Rp1 T C 1: 4,415,107 (GRCm39) N2002D probably benign Het
Sall1 C T 8: 89,768,979 (GRCm39) probably null Het
Scn10a C T 9: 119,477,198 (GRCm39) W728* probably null Het
Setdb2 G T 14: 59,656,813 (GRCm39) T168K probably damaging Het
Sgms1 T C 19: 32,137,276 (GRCm39) I97V probably benign Het
Slc8a3 A T 12: 81,361,325 (GRCm39) M498K probably benign Het
Smpd4 A T 16: 17,456,497 (GRCm39) E362D probably damaging Het
Ssc5d A T 7: 4,940,529 (GRCm39) K881* probably null Het
Strn4 A G 7: 16,564,309 (GRCm39) E313G probably damaging Het
Tas2r113 A T 6: 132,870,890 (GRCm39) N306I possibly damaging Het
Tdrd6 G T 17: 43,935,730 (GRCm39) R1773S probably benign Het
Thbs2 T C 17: 14,897,321 (GRCm39) E729G probably damaging Het
Tnfrsf23 G A 7: 143,224,572 (GRCm39) T135I probably damaging Het
Tollip A G 7: 141,438,276 (GRCm39) M218T probably benign Het
Tyk2 A T 9: 21,031,554 (GRCm39) probably null Het
Ubr2 G A 17: 47,296,974 (GRCm39) R269C probably damaging Het
Uggt1 A T 1: 36,185,806 (GRCm39) M1459K possibly damaging Het
Upf1 A G 8: 70,786,730 (GRCm39) V929A probably benign Het
Usp48 T C 4: 137,321,763 (GRCm39) S24P probably benign Het
Vmn1r214 G A 13: 23,218,631 (GRCm39) E42K not run Het
Vmn1r83 G T 7: 12,055,360 (GRCm39) D232E probably benign Het
Vmn2r25 C T 6: 123,800,339 (GRCm39) V668I probably damaging Het
Vmn2r6 A G 3: 64,463,991 (GRCm39) I281T probably damaging Het
Ywhag A T 5: 135,940,043 (GRCm39) Y184N probably damaging Het
Zdbf2 A C 1: 63,347,535 (GRCm39) E1971D possibly damaging Het
Zfp568 G A 7: 29,722,839 (GRCm39) A595T possibly damaging Het
Zfy2 T C Y: 2,117,083 (GRCm39) D248G probably benign Het
Other mutations in Ikzf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Ikzf1 APN 11 11,718,923 (GRCm39) missense probably damaging 1.00
IGL01367:Ikzf1 APN 11 11,698,358 (GRCm39) missense probably benign 0.04
IGL01823:Ikzf1 APN 11 11,719,091 (GRCm39) missense possibly damaging 0.64
IGL02342:Ikzf1 APN 11 11,650,216 (GRCm39) utr 5 prime probably benign
IGL02452:Ikzf1 APN 11 11,698,545 (GRCm39) missense probably damaging 1.00
IGL03209:Ikzf1 APN 11 11,650,226 (GRCm39) missense probably benign
IGL03236:Ikzf1 APN 11 11,657,848 (GRCm39) missense probably damaging 1.00
Herrscher UTSW 11 11,718,961 (GRCm39) nonsense probably null
Star_lord UTSW 11 11,719,448 (GRCm39) missense probably damaging 1.00
waxwing UTSW 11 11,698,464 (GRCm39) nonsense probably null
R0133:Ikzf1 UTSW 11 11,691,015 (GRCm39) splice site probably null
R0417:Ikzf1 UTSW 11 11,719,352 (GRCm39) missense probably benign 0.19
R0633:Ikzf1 UTSW 11 11,719,223 (GRCm39) missense probably damaging 1.00
R0734:Ikzf1 UTSW 11 11,708,195 (GRCm39) missense probably damaging 1.00
R1693:Ikzf1 UTSW 11 11,657,838 (GRCm39) missense probably damaging 1.00
R2114:Ikzf1 UTSW 11 11,719,473 (GRCm39) missense probably damaging 1.00
R2927:Ikzf1 UTSW 11 11,719,324 (GRCm39) missense probably damaging 1.00
R4250:Ikzf1 UTSW 11 11,704,166 (GRCm39) missense probably damaging 1.00
R5156:Ikzf1 UTSW 11 11,719,448 (GRCm39) missense probably damaging 1.00
R5912:Ikzf1 UTSW 11 11,698,464 (GRCm39) nonsense probably null
R6274:Ikzf1 UTSW 11 11,718,961 (GRCm39) nonsense probably null
R7614:Ikzf1 UTSW 11 11,719,019 (GRCm39) missense probably damaging 1.00
R7727:Ikzf1 UTSW 11 11,698,339 (GRCm39) missense probably damaging 1.00
R8758:Ikzf1 UTSW 11 11,711,359 (GRCm39) missense probably benign 0.03
R8946:Ikzf1 UTSW 11 11,719,485 (GRCm39) missense possibly damaging 0.86
R8998:Ikzf1 UTSW 11 11,635,013 (GRCm39) start gained probably benign
R8999:Ikzf1 UTSW 11 11,635,013 (GRCm39) start gained probably benign
R9624:Ikzf1 UTSW 11 11,719,219 (GRCm39) missense probably damaging 1.00
Z1176:Ikzf1 UTSW 11 11,708,194 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TCATCAGCTCCATGTACCAGC -3'
(R):5'- TACATGACGTGATCCAGGAAG -3'

Sequencing Primer
(F):5'- GCTCCATGTACCAGCTGCAC -3'
(R):5'- TGATCCAGGAAGAGCACGC -3'
Posted On 2019-11-26