Incidental Mutation 'R5432:Ikzf4'
ID 428106
Institutional Source Beutler Lab
Gene Symbol Ikzf4
Ensembl Gene ENSMUSG00000002578
Gene Name IKAROS family zinc finger 4
Synonyms Zfpn1a4, A630026H08Rik, Eos
MMRRC Submission 042997-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5432 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 128466712-128505227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128470047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 491 (V491A)
Ref Sequence ENSEMBL: ENSMUSP00000152234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000133342] [ENSMUST00000221150] [ENSMUST00000222067] [ENSMUST00000223162]
AlphaFold Q8C208
Predicted Effect probably damaging
Transcript: ENSMUST00000065334
AA Change: V544A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066991
Gene: ENSMUSG00000002578
AA Change: V544A

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: V491A

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 damaging
Transcript: ENSMUST00000133342
AA Change: V544A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114404
Gene: ENSMUSG00000002578
AA Change: V544A

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 probably damaging
Transcript: ENSMUST00000221150
AA Change: V544A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222067
AA Change: V491A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000223162
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt G A 9: 4,309,349 (GRCm39) R30* probably null Het
Abca9 G A 11: 110,032,380 (GRCm39) R746W possibly damaging Het
Akap13 A G 7: 75,252,578 (GRCm39) E236G probably damaging Het
Asb4 A C 6: 5,430,912 (GRCm39) R382S probably damaging Het
Bahcc1 T C 11: 120,178,814 (GRCm39) S2458P probably benign Het
Bspry T C 4: 62,400,952 (GRCm39) V148A probably benign Het
Cacna2d3 A C 14: 28,665,512 (GRCm39) probably null Het
Cblb T A 16: 51,963,228 (GRCm39) H390Q probably damaging Het
Cct8l1 T C 5: 25,721,305 (GRCm39) S7P possibly damaging Het
Cep295 T C 9: 15,262,991 (GRCm39) T191A possibly damaging Het
Cts8 A C 13: 61,398,826 (GRCm39) F227V probably benign Het
Elac1 T C 18: 73,875,864 (GRCm39) T56A possibly damaging Het
Fjx1 T C 2: 102,280,864 (GRCm39) N357S possibly damaging Het
Gm5414 T C 15: 101,533,069 (GRCm39) T453A probably damaging Het
Hcls1 G A 16: 36,781,910 (GRCm39) E340K probably benign Het
Hrc C A 7: 44,986,285 (GRCm39) H479N possibly damaging Het
Kalrn A G 16: 33,873,992 (GRCm39) S138P probably damaging Het
Lama3 G T 18: 12,705,123 (GRCm39) D3062Y probably damaging Het
Lcor A G 19: 41,573,042 (GRCm39) E599G probably damaging Het
Llgl1 T C 11: 60,598,449 (GRCm39) S442P probably benign Het
Macf1 T A 4: 123,353,129 (GRCm39) K1517* probably null Het
Myo9a A T 9: 59,772,953 (GRCm39) Y995F possibly damaging Het
Nek3 A C 8: 22,638,748 (GRCm39) probably null Het
Nynrin A G 14: 56,101,923 (GRCm39) T531A possibly damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2m12 A T 16: 19,104,839 (GRCm39) I218N probably benign Het
Pdia4 A G 6: 47,775,400 (GRCm39) V470A possibly damaging Het
Pinlyp T C 7: 24,241,892 (GRCm39) D105G probably damaging Het
Pla2g6 A G 15: 79,186,817 (GRCm39) probably null Het
Plpp7 A G 2: 31,985,932 (GRCm39) S37G probably benign Het
Prdm11 G T 2: 92,806,158 (GRCm39) P264Q probably benign Het
Rbl2 G T 8: 91,828,911 (GRCm39) R604L probably benign Het
Rfx7 A G 9: 72,500,584 (GRCm39) T115A probably benign Het
Samd4 A G 14: 47,311,519 (GRCm39) Q279R probably benign Het
Sdha G T 13: 74,475,068 (GRCm39) A591D probably damaging Het
Secisbp2 AAGCAGCAGCAGCAGCAGCA AAGCAGCAGCAGCAGCA 13: 51,828,002 (GRCm39) probably benign Het
Sephs2 G A 7: 126,872,977 (GRCm39) R39W probably damaging Het
Serpina3f T C 12: 104,186,577 (GRCm39) I381T possibly damaging Het
Shd A T 17: 56,283,214 (GRCm39) Q281L probably damaging Het
Sik3 A G 9: 46,034,539 (GRCm39) S98G probably benign Het
Srgap1 T A 10: 121,705,728 (GRCm39) N232I probably damaging Het
Thbs1 A T 2: 117,945,164 (GRCm39) N246Y probably benign Het
Usp9y A G Y: 1,368,022 (GRCm39) probably null Het
Vwde A G 6: 13,190,591 (GRCm39) M500T probably damaging Het
Wdr72 T G 9: 74,183,228 (GRCm39) S1053R probably damaging Het
Yif1b T C 7: 28,945,393 (GRCm39) C192R probably damaging Het
Zc3h13 A G 14: 75,568,687 (GRCm39) S1327G probably damaging Het
Zfp1004 A G 2: 150,033,901 (GRCm39) N74S possibly 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
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'- AACAGGAATTGGGCTAGACC -3'
(R):5'- CAACCACGAAGACCGGATTG -3'

Sequencing Primer
(F):5'- GCTAGACCCCTGTAGGTAGG -3'
(R):5'- GGGTGGTATCCCTTCCTCAG -3'
Posted On 2016-09-01