Incidental Mutation 'R7485:Ikzf4'
ID 580093
Institutional Source Beutler Lab
Gene Symbol Ikzf4
Ensembl Gene ENSMUSG00000002578
Gene Name IKAROS family zinc finger 4
Synonyms Zfpn1a4, A630026H08Rik, Eos
MMRRC Submission 045559-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7485 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 128466712-128505227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128468451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 676 (H676L)
Ref Sequence ENSEMBL: ENSMUSP00000152617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000133342] [ENSMUST00000221150] [ENSMUST00000222067] [ENSMUST00000223162]
AlphaFold Q8C208
Predicted Effect probably benign
Transcript: ENSMUST00000133342
SMART Domains Protein: ENSMUSP00000114404
Gene: ENSMUSG00000002578

DomainStartEndE-ValueType
ZnF_C2H2 159 181 7.67e-2 SMART
ZnF_C2H2 187 209 1.72e-4 SMART
ZnF_C2H2 215 237 1.72e-4 SMART
ZnF_C2H2 248 271 1.18e-2 SMART
low complexity region 423 436 N/A INTRINSIC
low complexity region 475 484 N/A INTRINSIC
ZnF_C2H2 531 553 7.49e0 SMART
ZnF_C2H2 559 583 3.52e-1 SMART
Predicted Effect unknown
Transcript: ENSMUST00000221150
AA Change: H676L
Predicted Effect probably benign
Transcript: ENSMUST00000222067
Predicted Effect probably benign
Transcript: ENSMUST00000223162
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (99/100)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Eos, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat3 C T 10: 80,442,234 (GRCm39) A24V probably benign Het
Agbl1 A T 7: 76,239,241 (GRCm39) E832D unknown Het
Akap8l G A 17: 32,554,545 (GRCm39) S347L probably benign Het
Ankmy1 G T 1: 92,804,379 (GRCm39) A868E probably damaging Het
Ankrd49 A T 9: 14,693,837 (GRCm39) L110* probably null Het
Aoc3 A G 11: 101,228,229 (GRCm39) T679A probably damaging Het
Ap1s3 A G 1: 79,592,018 (GRCm39) Y111H probably damaging Het
Arnt T A 3: 95,402,659 (GRCm39) N777K probably damaging Het
Atp4b A T 8: 13,436,732 (GRCm39) M260K probably benign Het
Bcl2l15 A T 3: 103,740,729 (GRCm39) D65V probably damaging Het
Bicdl1 G T 5: 115,801,845 (GRCm39) S340* probably null Het
Ccdc15 T C 9: 37,226,574 (GRCm39) R467G probably benign Het
Ccdc68 T A 18: 70,102,084 (GRCm39) M327K possibly damaging Het
Ccdc83 T C 7: 89,873,138 (GRCm39) T406A probably benign Het
Ccnf A T 17: 24,468,232 (GRCm39) V55D probably damaging Het
Cdcp3 C A 7: 130,830,562 (GRCm39) P332Q probably damaging Het
Cldn12 A G 5: 5,558,008 (GRCm39) F140L probably benign Het
Copb1 A C 7: 113,844,720 (GRCm39) I213S possibly damaging Het
Cps1 G A 1: 67,179,016 (GRCm39) G76D probably damaging Het
Ctrc A G 4: 141,567,627 (GRCm39) W159R probably damaging Het
Cul4a C T 8: 13,190,279 (GRCm39) T572M possibly damaging Het
Cyp2c40 A T 19: 39,796,050 (GRCm39) Y109* probably null Het
Dcc A G 18: 71,553,317 (GRCm39) Y780H probably benign Het
Dctn1 C T 6: 83,166,887 (GRCm39) A283V possibly damaging Het
Dio1 T C 4: 107,154,874 (GRCm39) D134G probably benign Het
Dlg5 A T 14: 24,198,390 (GRCm39) D1514E probably benign Het
Dlg5 A T 14: 24,227,907 (GRCm39) L338Q probably damaging Het
Dlgap2 A T 8: 14,879,952 (GRCm39) K767N probably damaging Het
Dst A T 1: 34,313,270 (GRCm39) I4346F probably benign Het
Dzip1l T C 9: 99,543,065 (GRCm39) F507L probably benign Het
Erich2 A T 2: 70,362,109 (GRCm39) D300V probably damaging Het
Fam114a2 C T 11: 57,404,515 (GRCm39) G83D probably damaging Het
Fam131a C T 16: 20,520,444 (GRCm39) A299V probably benign Het
Fbln2 A G 6: 91,247,143 (GRCm39) probably null Het
Fbn2 T C 18: 58,204,912 (GRCm39) D1177G possibly damaging Het
Fbxl6 T C 15: 76,422,113 (GRCm39) probably null Het
Frem3 A T 8: 81,339,965 (GRCm39) I753F probably damaging Het
Gfra1 A G 19: 58,288,744 (GRCm39) S234P probably damaging Het
Gtse1 T A 15: 85,752,901 (GRCm39) S339T probably benign Het
Hdgfl3 T C 7: 81,550,106 (GRCm39) N76S probably benign Het
Herc6 A G 6: 57,558,089 (GRCm39) E23G probably benign Het
Hid1 T A 11: 115,245,545 (GRCm39) H420L probably damaging Het
Igsf21 G A 4: 139,755,049 (GRCm39) T440I probably benign Het
Il18r1 A G 1: 40,520,140 (GRCm39) E177G probably benign Het
Iqch A G 9: 63,415,599 (GRCm39) Y558H possibly damaging Het
Kif11 A T 19: 37,399,072 (GRCm39) N752I possibly damaging Het
Kntc1 T A 5: 123,925,019 (GRCm39) C1111S possibly damaging Het
Krtap9-5 A G 11: 99,839,800 (GRCm39) K167R unknown Het
Lgalsl2 C T 7: 5,362,440 (GRCm39) R24C probably benign Het
Lipe G T 7: 25,080,036 (GRCm39) T704K probably benign Het
Lrrc32 A T 7: 98,147,414 (GRCm39) I65F possibly damaging Het
Mogs C T 6: 83,093,188 (GRCm39) H179Y probably damaging Het
Mtnr1b A T 9: 15,774,590 (GRCm39) Y156* probably null Het
Mtus1 T C 8: 41,537,590 (GRCm39) H42R probably benign Het
Mx2 T A 16: 97,346,918 (GRCm39) D128E probably benign Het
Myof A T 19: 37,939,939 (GRCm39) L829* probably null Het
Naip6 T C 13: 100,420,359 (GRCm39) K1304E probably benign Het
Neo1 A C 9: 58,791,826 (GRCm39) S1307R probably benign Het
Nipbl A T 15: 8,359,779 (GRCm39) D1475E probably benign Het
Nlrp9b T A 7: 19,757,875 (GRCm39) F371I probably damaging Het
Nrip1 A T 16: 76,088,338 (GRCm39) M1073K probably damaging Het
Obox6 T C 7: 15,567,863 (GRCm39) N195D probably damaging Het
Or13a18 T A 7: 140,190,091 (GRCm39) I4K probably benign Het
Or1j18 T A 2: 36,624,650 (GRCm39) F106I probably benign Het
Or5ac24 A T 16: 59,165,687 (GRCm39) C126S probably damaging Het
Or5b99 C T 19: 12,976,922 (GRCm39) H191Y probably benign Het
Or5p64 C A 7: 107,855,045 (GRCm39) C100F probably damaging Het
Pax7 T C 4: 139,511,880 (GRCm39) K232E probably benign Het
Phldb3 C T 7: 24,310,689 (GRCm39) probably benign Het
Pkd1l1 C A 11: 8,915,148 (GRCm39) V131L Het
Ppp2r5a A G 1: 191,128,532 (GRCm39) S28P probably benign Het
Prl8a1 A G 13: 27,758,068 (GRCm39) S214P probably damaging Het
Prmt2 A T 10: 76,056,838 (GRCm39) C228* probably null Het
Prpf8 C T 11: 75,399,738 (GRCm39) R2266* probably null Het
Rabl6 A G 2: 25,474,153 (GRCm39) S648P unknown Het
Ralgapa1 T C 12: 55,759,457 (GRCm39) K1022R probably damaging Het
Ralgapb T A 2: 158,285,275 (GRCm39) D591E probably benign Het
Rprd1a A G 18: 24,639,889 (GRCm39) probably null Het
Rsu1 T C 2: 13,221,686 (GRCm39) R165G probably damaging Het
Samd8 A G 14: 21,842,491 (GRCm39) E334G probably benign Het
Scn9a T A 2: 66,364,561 (GRCm39) Q804L probably damaging Het
Sez6 A G 11: 77,864,711 (GRCm39) D557G probably benign Het
Sgsm1 A T 5: 113,427,501 (GRCm39) probably null Het
Slc17a3 T A 13: 24,039,832 (GRCm39) M290K Het
Snd1 T A 6: 28,531,449 (GRCm39) V330E probably benign Het
Tceanc2 T C 4: 107,022,852 (GRCm39) K45R probably damaging Het
Tg A T 15: 66,568,437 (GRCm39) I1375F probably benign Het
Tmem116 T A 5: 121,633,124 (GRCm39) I357K Het
Tmem39a G T 16: 38,408,658 (GRCm39) R407L possibly damaging Het
Tmem74 A T 15: 43,730,761 (GRCm39) M94K probably benign Het
Tpp1 C T 7: 105,398,751 (GRCm39) C226Y probably damaging Het
Trbv21 T C 6: 41,179,861 (GRCm39) I59T not run Het
Trim11 A G 11: 58,869,463 (GRCm39) D133G probably benign Het
Uaca G A 9: 60,753,282 (GRCm39) V76I probably damaging Het
Ugt2a3 A G 5: 87,475,539 (GRCm39) probably null Het
Vmn2r104 G T 17: 20,249,737 (GRCm39) H845N probably benign Het
Wdr24 T C 17: 26,045,101 (GRCm39) Y279H probably damaging Het
Zbtb46 A G 2: 181,065,512 (GRCm39) S213P probably benign Het
Zdhhc13 C A 7: 48,461,103 (GRCm39) Y346* probably null Het
Zfp280b A T 10: 75,875,075 (GRCm39) H318L probably damaging Het
Other mutations in Ikzf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Ikzf4 APN 10 128,470,416 (GRCm39) missense probably benign 0.00
IGL01649:Ikzf4 APN 10 128,471,689 (GRCm39) missense probably damaging 1.00
IGL02261:Ikzf4 APN 10 128,472,591 (GRCm39) missense possibly damaging 0.50
IGL02315:Ikzf4 APN 10 128,470,014 (GRCm39) missense probably damaging 1.00
R0099:Ikzf4 UTSW 10 128,470,066 (GRCm39) missense probably damaging 0.97
R0200:Ikzf4 UTSW 10 128,470,545 (GRCm39) missense probably damaging 0.96
R0365:Ikzf4 UTSW 10 128,470,276 (GRCm39) missense probably benign
R0376:Ikzf4 UTSW 10 128,468,625 (GRCm39) missense probably benign
R0456:Ikzf4 UTSW 10 128,471,677 (GRCm39) missense probably damaging 0.98
R0536:Ikzf4 UTSW 10 128,477,118 (GRCm39) missense probably benign 0.09
R1731:Ikzf4 UTSW 10 128,470,401 (GRCm39) missense probably benign 0.03
R2017:Ikzf4 UTSW 10 128,470,026 (GRCm39) missense probably damaging 1.00
R4158:Ikzf4 UTSW 10 128,479,605 (GRCm39) intron probably benign
R4160:Ikzf4 UTSW 10 128,479,605 (GRCm39) intron probably benign
R4623:Ikzf4 UTSW 10 128,476,988 (GRCm39) missense probably damaging 1.00
R4789:Ikzf4 UTSW 10 128,468,575 (GRCm39) missense probably benign 0.00
R5008:Ikzf4 UTSW 10 128,477,119 (GRCm39) missense probably benign 0.03
R5432:Ikzf4 UTSW 10 128,470,047 (GRCm39) missense probably damaging 1.00
R6091:Ikzf4 UTSW 10 128,470,542 (GRCm39) missense probably benign 0.15
R6445:Ikzf4 UTSW 10 128,472,424 (GRCm39) splice site probably null
R7204:Ikzf4 UTSW 10 128,479,759 (GRCm39) missense possibly damaging 0.64
R7219:Ikzf4 UTSW 10 128,470,252 (GRCm39) missense possibly damaging 0.64
R7239:Ikzf4 UTSW 10 128,477,113 (GRCm39) missense probably damaging 1.00
R7710:Ikzf4 UTSW 10 128,468,610 (GRCm39) missense possibly damaging 0.46
R7988:Ikzf4 UTSW 10 128,470,324 (GRCm39) missense probably damaging 1.00
R9127:Ikzf4 UTSW 10 128,468,487 (GRCm39) missense unknown
R9352:Ikzf4 UTSW 10 128,472,623 (GRCm39) missense probably benign 0.22
Z1176:Ikzf4 UTSW 10 128,470,099 (GRCm39) missense possibly damaging 0.69
Z1177:Ikzf4 UTSW 10 128,478,509 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AGGATCTGATCTAGCCCACC -3'
(R):5'- ATGTGCCCGTCAACCATTC -3'

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