Incidental Mutation 'IGL02261:Ikzf4'
ID 286738
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ikzf4
Ensembl Gene ENSMUSG00000002578
Gene Name IKAROS family zinc finger 4
Synonyms Zfpn1a4, A630026H08Rik, Eos
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02261
Quality Score
Status
Chromosome 10
Chromosomal Location 128466712-128505227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128472591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 209 (T209A)
Ref Sequence ENSEMBL: ENSMUSP00000152234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000133342] [ENSMUST00000221150] [ENSMUST00000222067] [ENSMUST00000223162]
AlphaFold Q8C208
Predicted Effect probably benign
Transcript: ENSMUST00000065334
AA Change: T262A

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000066991
Gene: ENSMUSG00000002578
AA Change: T262A

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
Predicted Effect
SMART Domains Protein: ENSMUSP00000113478
Gene: ENSMUSG00000002578
AA Change: T209A

DomainStartEndE-ValueType
ZnF_C2H2 106 128 7.67e-2 SMART
ZnF_C2H2 134 156 1.72e-4 SMART
ZnF_C2H2 162 184 1.72e-4 SMART
ZnF_C2H2 195 218 1.18e-2 SMART
low complexity region 370 383 N/A INTRINSIC
low complexity region 422 431 N/A INTRINSIC
ZnF_C2H2 478 500 7.49e0 SMART
ZnF_C2H2 506 530 3.52e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000133342
AA Change: T262A

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114404
Gene: ENSMUSG00000002578
AA Change: T262A

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 possibly damaging
Transcript: ENSMUST00000221150
AA Change: T262A

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000222067
AA Change: T209A

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222899
Predicted Effect probably benign
Transcript: ENSMUST00000223162
Predicted Effect probably benign
Transcript: ENSMUST00000222901
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223145
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn G A 5: 88,604,807 (GRCm39) V27M probably damaging Het
Ank1 A G 8: 23,578,015 (GRCm39) N222D probably damaging Het
Bcas3 A T 11: 85,422,756 (GRCm39) T542S probably damaging Het
Btbd1 A T 7: 81,455,507 (GRCm39) I288N probably damaging Het
Ctps1 C T 4: 120,399,776 (GRCm39) V500I possibly damaging Het
Cul5 A C 9: 53,546,337 (GRCm39) V345G probably damaging Het
Dchs1 A G 7: 105,421,776 (GRCm39) Y215H probably damaging Het
Dmxl1 T A 18: 49,973,566 (GRCm39) M67K possibly damaging Het
Egln2 C T 7: 26,859,291 (GRCm39) E353K possibly damaging Het
Fbxw5 G T 2: 25,393,746 (GRCm39) A325S probably benign Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gaa A G 11: 119,172,091 (GRCm39) *207W probably null Het
Herc2 A G 7: 55,856,492 (GRCm39) T3947A probably damaging Het
Ifit2 T A 19: 34,551,624 (GRCm39) I388N probably damaging Het
Il17re A T 6: 113,445,472 (GRCm39) probably benign Het
Insrr T A 3: 87,708,029 (GRCm39) L157Q probably damaging Het
Kcnq2 T G 2: 180,723,483 (GRCm39) Y631S probably damaging Het
Lrrfip1 A G 1: 91,039,890 (GRCm39) I198V probably benign Het
Mir7684 A T 15: 82,273,345 (GRCm39) probably benign Het
Mphosph9 C T 5: 124,398,150 (GRCm39) E1049K probably damaging Het
Mroh1 G A 15: 76,313,360 (GRCm39) R611Q probably benign Het
Mynn A T 3: 30,661,280 (GRCm39) I121F possibly damaging Het
Ndrg2 G A 14: 52,148,566 (GRCm39) R32C probably damaging Het
Or2ab1 T C 11: 58,488,630 (GRCm39) I138T probably benign Het
Or4p7 A G 2: 88,221,725 (GRCm39) I45V probably benign Het
Ppp1r9b A G 11: 94,892,936 (GRCm39) E260G probably damaging Het
Psd4 A G 2: 24,291,756 (GRCm39) S652G probably damaging Het
Psg25 C T 7: 18,255,268 (GRCm39) R416H probably benign Het
Pygm T A 19: 6,438,301 (GRCm39) N171K probably damaging Het
Rbm46 A T 3: 82,771,723 (GRCm39) D297E possibly damaging Het
Selenov T A 7: 27,990,004 (GRCm39) T167S probably benign Het
Serpina10 T C 12: 103,583,208 (GRCm39) Y358C probably damaging Het
Slc27a3 T C 3: 90,295,002 (GRCm39) R352G probably benign Het
Snx33 T C 9: 56,833,862 (GRCm39) D69G probably benign Het
St8sia2 G T 7: 73,616,594 (GRCm39) P127H probably damaging Het
Thbd T C 2: 148,248,401 (GRCm39) K489R probably benign Het
Ttn A T 2: 76,767,049 (GRCm39) C3039S probably damaging Het
Vmn1r167 T C 7: 23,204,261 (GRCm39) M252V probably benign Het
Xdh A G 17: 74,220,960 (GRCm39) S590P possibly damaging Het
Zfp827 G A 8: 79,906,708 (GRCm39) V907I 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
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
R7485:Ikzf4 UTSW 10 128,468,451 (GRCm39) missense unknown
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
Posted On 2015-04-16