Incidental Mutation 'R0365:Ikzf4'
ID 36362
Institutional Source Beutler Lab
Gene Symbol Ikzf4
Ensembl Gene ENSMUSG00000002578
Gene Name IKAROS family zinc finger 4
Synonyms Zfpn1a4, A630026H08Rik, Eos
MMRRC Submission 038571-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0365 (G1)
Quality Score 166
Status Not validated
Chromosome 10
Chromosomal Location 128466712-128505227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128470276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 415 (I415V)
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: I468V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066991
Gene: ENSMUSG00000002578
AA Change: I468V

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: I415V

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: I468V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114404
Gene: ENSMUSG00000002578
AA Change: I468V

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 benign
Transcript: ENSMUST00000221150
AA Change: I468V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000222067
AA Change: I415V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000223162
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.7%
  • 20x: 93.8%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,892,088 (GRCm39) M173K probably benign Het
Abcb1b T A 5: 8,856,009 (GRCm39) F39Y probably damaging Het
Acbd3 A G 1: 180,566,177 (GRCm39) Y290C probably damaging Het
Alg12 A C 15: 88,700,352 (GRCm39) I28R possibly damaging Het
Amer2 A T 14: 60,616,984 (GRCm39) D393V probably damaging Het
Anxa5 A T 3: 36,511,618 (GRCm39) V153D probably damaging Het
Arl5a T C 2: 52,306,141 (GRCm39) M64V probably benign Het
Astn1 T C 1: 158,516,118 (GRCm39) L1236P probably damaging Het
Atg2a T C 19: 6,297,713 (GRCm39) S424P possibly damaging Het
AW551984 A T 9: 39,510,617 (GRCm39) S239R probably benign Het
Baz1b T C 5: 135,268,985 (GRCm39) V1278A probably benign Het
Cbfa2t3 G T 8: 123,361,799 (GRCm39) L408I probably benign Het
Cdc27 A T 11: 104,419,250 (GRCm39) N227K possibly damaging Het
Cdh20 A T 1: 110,036,486 (GRCm39) Q555H probably damaging Het
Cdh23 T A 10: 60,215,094 (GRCm39) N1412I probably damaging Het
Cdhr2 T C 13: 54,866,105 (GRCm39) S302P probably benign Het
Cep350 C A 1: 155,782,317 (GRCm39) E1563D probably benign Het
Cfap221 T A 1: 119,912,753 (GRCm39) E107V probably benign Het
Col6a3 C A 1: 90,715,938 (GRCm39) R1641L unknown Het
Coro6 A T 11: 77,354,916 (GRCm39) I60F probably benign Het
Dennd2b A T 7: 109,138,156 (GRCm39) V753E probably damaging Het
Dock10 G T 1: 80,573,400 (GRCm39) N245K probably damaging Het
Epb41l2 T A 10: 25,345,119 (GRCm39) N286K probably damaging Het
Fam83g G T 11: 61,593,935 (GRCm39) E490* probably null Het
Gnb1l T C 16: 18,371,211 (GRCm39) I234T possibly damaging Het
Gtf3a T A 5: 146,885,747 (GRCm39) W53R probably damaging Het
Il11ra1 T C 4: 41,767,527 (GRCm39) V293A probably damaging Het
Il17ra G A 6: 120,455,410 (GRCm39) V340M probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Kif24 A T 4: 41,428,731 (GRCm39) H76Q probably benign Het
Klhl25 T C 7: 75,516,264 (GRCm39) L390P probably damaging Het
Klhl26 T C 8: 70,904,479 (GRCm39) D443G probably damaging Het
Lama3 A T 18: 12,640,064 (GRCm39) R86S probably damaging Het
Lrrc24 G A 15: 76,599,984 (GRCm39) A385V probably benign Het
Maea C T 5: 33,517,787 (GRCm39) A109V probably benign Het
Mtor A T 4: 148,570,507 (GRCm39) Y1188F probably benign Het
Nccrp1 T C 7: 28,243,977 (GRCm39) D202G probably damaging Het
Nsun4 A T 4: 115,901,935 (GRCm39) L177Q probably damaging Het
Nup155 C T 15: 8,161,027 (GRCm39) R571W probably damaging Het
Nup160 T A 2: 90,539,188 (GRCm39) M789K probably benign Het
Odad2 T A 18: 7,217,800 (GRCm39) H638L probably benign Het
Or5an1c A G 19: 12,218,440 (GRCm39) F195S probably benign Het
Or5p50 A T 7: 107,422,124 (GRCm39) L184* probably null Het
Or8d2b A T 9: 38,788,481 (GRCm39) H3L probably benign Het
Pgpep1 G T 8: 71,105,174 (GRCm39) probably null Het
Pkd1l2 C T 8: 117,748,589 (GRCm39) V1861M probably benign Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Plin4 G T 17: 56,411,667 (GRCm39) T788K possibly damaging Het
Ppp3r2 T C 4: 49,681,902 (GRCm39) D16G possibly damaging Het
Pramel22 G T 4: 143,382,071 (GRCm39) Y208* probably null Het
Prdm16 A T 4: 154,426,513 (GRCm39) I424N probably damaging Het
Psen2 T A 1: 180,056,410 (GRCm39) I396F probably damaging Het
Psip1 C T 4: 83,403,949 (GRCm39) probably null Het
Ptprd G A 4: 76,055,083 (GRCm39) T215I probably damaging Het
Rec114 A G 9: 58,648,822 (GRCm39) S2P probably benign Het
Rexo1 A G 10: 80,378,410 (GRCm39) I1181T probably damaging Het
Rfx7 T C 9: 72,527,118 (GRCm39) M1436T probably benign Het
Rnf213 T A 11: 119,316,937 (GRCm39) V1020E possibly damaging Het
Rorc G A 3: 94,296,069 (GRCm39) G83S probably damaging Het
Ryr2 T G 13: 11,683,725 (GRCm39) Q3113P possibly damaging Het
Shank1 T C 7: 44,003,401 (GRCm39) S1698P possibly damaging Het
Slc2a2 T C 3: 28,762,828 (GRCm39) probably null Het
Slc5a9 A T 4: 111,749,033 (GRCm39) Y98* probably null Het
Smc6 T C 12: 11,333,175 (GRCm39) probably null Het
Sptb G T 12: 76,647,157 (GRCm39) F1959L probably benign Het
Srgap1 T A 10: 121,621,610 (GRCm39) H984L possibly damaging Het
Ssc5d T A 7: 4,931,466 (GRCm39) C224* probably null Het
Ston2 A T 12: 91,614,634 (GRCm39) H591Q probably benign Het
Tbx3 C T 5: 119,813,315 (GRCm39) A222V possibly damaging Het
Thsd7a A G 6: 12,321,886 (GRCm39) probably null Het
Usp9y T C Y: 1,364,732 (GRCm39) D1027G probably damaging Het
Wnt5a C T 14: 28,240,461 (GRCm39) R184* probably null Het
Zfpm2 A G 15: 40,637,462 (GRCm39) E74G possibly damaging Het
Zwint C A 10: 72,493,127 (GRCm39) S223* probably null 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
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
Predicted Primers PCR Primer
(F):5'- ATGGTGAACATGACGTGGTCCAG -3'
(R):5'- TCTCTAGCCTTTGTGGGTACAGAGC -3'

Sequencing Primer
(F):5'- GCAGTGTTCACACTTAAAGGC -3'
(R):5'- GTACAGAGCATCTGCGTCC -3'
Posted On 2013-05-09