Incidental Mutation 'R0536:Ikzf4'
ID 49463
Institutional Source Beutler Lab
Gene Symbol Ikzf4
Ensembl Gene ENSMUSG00000002578
Gene Name IKAROS family zinc finger 4
Synonyms Zfpn1a4, A630026H08Rik, Eos
MMRRC Submission 038728-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0536 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128466712-128505227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128477118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 64 (E64D)
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: E117D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066991
Gene: ENSMUSG00000002578
AA Change: E117D

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 probably benign
Transcript: ENSMUST00000119614
AA Change: E64D

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113478
Gene: ENSMUSG00000002578
AA Change: E64D

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 probably benign
Transcript: ENSMUST00000133342
AA Change: E117D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114404
Gene: ENSMUSG00000002578
AA Change: E117D

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 noncoding transcript
Transcript: ENSMUST00000149762
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221022
Predicted Effect probably benign
Transcript: ENSMUST00000221150
AA Change: E117D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000222067
AA Change: E64D

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223145
Predicted Effect probably benign
Transcript: ENSMUST00000222901
Predicted Effect probably benign
Transcript: ENSMUST00000223162
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 100% (29/29)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,171,342 (GRCm39) probably benign Het
Agrn A T 4: 156,264,010 (GRCm39) D84E probably benign Het
Akap11 A G 14: 78,751,464 (GRCm39) S308P probably damaging Het
Atp6v1c2 A T 12: 17,357,509 (GRCm39) probably null Het
AW209491 A G 13: 14,811,558 (GRCm39) Y137C probably damaging Het
Chst9 G A 18: 15,628,387 (GRCm39) probably benign Het
Dok7 A G 5: 35,223,826 (GRCm39) T122A probably damaging Het
Hoxb5 T C 11: 96,194,854 (GRCm39) S139P possibly damaging Het
Kif21a C A 15: 90,843,886 (GRCm39) probably benign Het
Klhl41 G A 2: 69,500,554 (GRCm39) R5Q probably benign Het
Lama3 C T 18: 12,658,951 (GRCm39) R2036C probably damaging Het
Lrba T A 3: 86,622,839 (GRCm39) V311D probably damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Mylk T C 16: 34,820,757 (GRCm39) V1903A possibly damaging Het
Naa30 C T 14: 49,410,534 (GRCm39) A154V possibly damaging Het
Or2ag1 T A 7: 106,313,528 (GRCm39) Y120F probably damaging Het
Or52z12 T C 7: 103,233,468 (GRCm39) S80P probably damaging Het
Or8g24 G T 9: 38,989,625 (GRCm39) Q139K probably benign Het
Pgm3 C T 9: 86,449,589 (GRCm39) V144M possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rgsl1 T A 1: 153,701,927 (GRCm39) S211C probably damaging Het
Setx T C 2: 29,048,260 (GRCm39) Y1954H possibly damaging Het
Sorcs3 C T 19: 48,791,137 (GRCm39) Q1162* probably null Het
Sptbn2 T A 19: 4,776,718 (GRCm39) D255E probably damaging Het
Ttc39b T C 4: 83,145,435 (GRCm39) E597G probably damaging Het
Vldlr G A 19: 27,217,364 (GRCm39) A436T probably damaging Het
Wdr72 G A 9: 74,064,690 (GRCm39) G574D probably damaging Het
Zzz3 T G 3: 152,154,465 (GRCm39) I572S 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
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
Predicted Primers PCR Primer
(F):5'- CCCTTGGGTTTACTCACCAGTGTG -3'
(R):5'- AATAAACAGGCCGTTGTCCCTCC -3'

Sequencing Primer
(F):5'- CTTGTGTACCATGAGCACATTG -3'
(R):5'- GTTGTCCCTCCTGACACTTG -3'
Posted On 2013-06-12