Incidental Mutation 'IGL02452:Ikzf1'
ID 293710
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ikzf1
Ensembl Gene ENSMUSG00000018654
Gene Name IKAROS family zinc finger 1
Synonyms Zfpn1a1, 5832432G11Rik, LyF-1, Ikaros
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02452
Quality Score
Status
Chromosome 11
Chromosomal Location 11634980-11722926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11698545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 132 (L132P)
Ref Sequence ENSEMBL: ENSMUSP00000075992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018798] [ENSMUST00000048122] [ENSMUST00000065433] [ENSMUST00000076700] [ENSMUST00000126058]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000018798
SMART Domains Protein: ENSMUSP00000018798
Gene: ENSMUSG00000018654

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 benign
Transcript: ENSMUST00000048122
SMART Domains Protein: ENSMUSP00000046974
Gene: ENSMUSG00000018654

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
Predicted Effect probably damaging
Transcript: ENSMUST00000065433
AA Change: L152P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067372
Gene: ENSMUSG00000018654
AA Change: L152P

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: L132P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075992
Gene: ENSMUSG00000018654
AA Change: L132P

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
Predicted Effect probably benign
Transcript: ENSMUST00000126058
SMART Domains Protein: ENSMUSP00000119960
Gene: ENSMUSG00000018654

DomainStartEndE-ValueType
ZnF_C2H2 58 78 2.14e0 SMART
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm C A 3: 153,647,607 (GRCm39) V11F probably damaging Het
Alk A T 17: 72,209,620 (GRCm39) Y941* probably null Het
Blm A T 7: 80,153,125 (GRCm39) probably null Het
Blvrb T C 7: 27,158,765 (GRCm39) V55A possibly damaging Het
Cdh23 T A 10: 60,153,721 (GRCm39) T2288S probably damaging Het
Csnk1g1 T A 9: 65,915,067 (GRCm39) M242K probably damaging Het
Cyp2c29 G A 19: 39,279,291 (GRCm39) G96D possibly damaging Het
Cyp2d26 T A 15: 82,676,827 (GRCm39) H173L probably benign Het
Cyp2g1 T A 7: 26,510,871 (GRCm39) S131T probably benign Het
Dusp29 G A 14: 21,752,990 (GRCm39) T52I probably damaging Het
Dzip3 T A 16: 48,758,900 (GRCm39) probably benign Het
Espl1 T C 15: 102,208,274 (GRCm39) S427P probably damaging Het
Fasn A T 11: 120,699,006 (GRCm39) D2424E probably benign Het
Flrt2 G A 12: 95,746,257 (GRCm39) M198I probably benign Het
Gen1 A T 12: 11,292,576 (GRCm39) S404R probably benign Het
Gm11596 A T 11: 99,683,806 (GRCm39) C105S unknown Het
Hdlbp A T 1: 93,345,233 (GRCm39) V714D probably damaging Het
Igkv4-80 A G 6: 68,993,816 (GRCm39) V25A probably benign Het
Igkv8-27 C T 6: 70,148,925 (GRCm39) W76* probably null Het
Kcna6 C A 6: 126,715,443 (GRCm39) C482F possibly damaging Het
Lhx9 A T 1: 138,769,580 (GRCm39) L47Q probably damaging Het
Lrp4 T A 2: 91,304,347 (GRCm39) D175E probably damaging Het
Lrrtm3 T C 10: 63,923,815 (GRCm39) K451E probably damaging Het
Mcm9 C T 10: 53,417,653 (GRCm39) V17M probably damaging Het
Mios T A 6: 8,222,492 (GRCm39) S475R probably benign Het
Mmp24 C T 2: 155,657,708 (GRCm39) R533C probably damaging Het
Moxd1 C T 10: 24,158,650 (GRCm39) P435S probably damaging Het
Mta2 T A 19: 8,927,670 (GRCm39) I497N probably benign Het
Mtus2 T C 5: 148,014,473 (GRCm39) V422A probably benign Het
Ndufaf1 A T 2: 119,486,907 (GRCm39) F260Y probably damaging Het
Nfasc C T 1: 132,548,662 (GRCm39) probably null Het
Nid1 A T 13: 13,683,305 (GRCm39) T1128S probably benign Het
Odad2 C T 18: 7,129,461 (GRCm39) E906K probably damaging Het
Or51f1d A G 7: 102,701,138 (GRCm39) D211G probably benign Het
Pcdh12 G A 18: 38,414,746 (GRCm39) P793L probably benign Het
Pclo A T 5: 14,726,980 (GRCm39) probably benign Het
Prpf31 T A 7: 3,637,185 (GRCm39) N161K possibly damaging Het
Prpf6 T G 2: 181,290,878 (GRCm39) N656K probably benign Het
Ptprn T A 1: 75,234,813 (GRCm39) H258L probably benign Het
Rab19 A G 6: 39,366,732 (GRCm39) T216A probably benign Het
Ryr3 A C 2: 112,664,335 (GRCm39) L1652W probably damaging Het
Six2 A C 17: 85,992,806 (GRCm39) S232R possibly damaging Het
Spag17 T C 3: 99,934,707 (GRCm39) V663A probably benign Het
Spag5 A G 11: 78,195,449 (GRCm39) N252S probably benign Het
Spata31e4 A T 13: 50,857,113 (GRCm39) H917L probably damaging Het
Sptb C T 12: 76,655,810 (GRCm39) probably null Het
Synj1 A G 16: 90,758,253 (GRCm39) probably benign Het
Tekt2 T C 4: 126,218,645 (GRCm39) H36R possibly damaging Het
Tjp1 A T 7: 64,962,403 (GRCm39) M1258K probably damaging Het
Txnrd3 T C 6: 89,651,777 (GRCm39) *502Q probably null 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
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
R7759:Ikzf1 UTSW 11 11,719,256 (GRCm39) missense probably damaging 0.98
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
Posted On 2015-04-16