Incidental Mutation 'IGL01649:Ikzf4'
ID 102777
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 # IGL01649
Quality Score
Status
Chromosome 10
Chromosomal Location 128466712-128505227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 128471689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 323 (R323C)
Ref Sequence ENSEMBL: ENSMUSP00000152617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000133342] [ENSMUST00000221150] [ENSMUST00000222067] [ENSMUST00000223162]
AlphaFold Q8C208
Predicted Effect probably damaging
Transcript: ENSMUST00000065334
AA Change: R323C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066991
Gene: ENSMUSG00000002578
AA Change: R323C

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 damaging
Transcript: ENSMUST00000119614
AA Change: R270C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113478
Gene: ENSMUSG00000002578
AA Change: R270C

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: R323C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114404
Gene: ENSMUSG00000002578
AA Change: R323C

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: R323C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222067
AA Change: R270C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000222901
Predicted Effect probably benign
Transcript: ENSMUST00000223162
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A G 9: 46,217,116 (GRCm39) S220P probably benign Het
Adam18 T C 8: 25,104,912 (GRCm39) N634S possibly damaging Het
Arhgef18 T A 8: 3,491,211 (GRCm39) probably benign Het
Birc6 A G 17: 74,911,541 (GRCm39) S1518G probably benign Het
Cltc A G 11: 86,617,226 (GRCm39) V341A probably benign Het
Dlg5 A G 14: 24,188,759 (GRCm39) V1721A probably damaging Het
Dnah10 A T 5: 124,809,553 (GRCm39) I274F probably damaging Het
Dock1 T A 7: 134,379,139 (GRCm39) L622Q probably damaging Het
Dysf A G 6: 84,176,821 (GRCm39) D1960G probably damaging Het
Fat3 T C 9: 16,288,015 (GRCm39) T503A possibly damaging Het
Glb1 A G 9: 114,253,016 (GRCm39) Y73C probably damaging Het
Gm9396 G T 3: 129,862,268 (GRCm39) noncoding transcript Het
Gml2 G T 15: 74,696,070 (GRCm39) E155* probably null Het
Kiz A G 2: 146,731,229 (GRCm39) T240A probably benign Het
Lzts3 T C 2: 130,477,351 (GRCm39) K480E probably damaging Het
Mcm7 T C 5: 138,167,698 (GRCm39) H105R probably damaging Het
Mpdz A G 4: 81,221,870 (GRCm39) L1464P probably damaging Het
Mrgpra9 A C 7: 46,884,900 (GRCm39) L256V probably benign Het
Mrpl40 T C 16: 18,691,329 (GRCm39) Q127R probably benign Het
Myom2 G T 8: 15,163,755 (GRCm39) R1003L probably benign Het
Nav2 A G 7: 49,225,477 (GRCm39) T1806A probably damaging Het
Or10x4 T C 1: 174,218,974 (GRCm39) L113P probably damaging Het
Pibf1 A T 14: 99,425,199 (GRCm39) Y562F possibly damaging Het
Potefam1 A T 2: 111,044,921 (GRCm39) probably benign Het
Ppm1n A T 7: 19,012,122 (GRCm39) probably benign Het
Psg17 A G 7: 18,550,727 (GRCm39) V376A possibly damaging Het
Septin8 T A 11: 53,425,855 (GRCm39) F143I possibly damaging Het
Sestd1 A G 2: 77,029,389 (GRCm39) Y330H probably damaging Het
Sntg1 C T 1: 8,752,193 (GRCm39) probably benign Het
Stpg2 C A 3: 139,125,623 (GRCm39) P472Q probably damaging Het
Thbs1 A G 2: 117,945,463 (GRCm39) K314R probably benign Het
Vav3 T C 3: 109,470,078 (GRCm39) Y508H probably benign Het
Other mutations in Ikzf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Ikzf4 APN 10 128,470,416 (GRCm39) missense probably benign 0.00
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
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 2014-01-21