Incidental Mutation 'R0417:Ikzf1'
ID 40418
Institutional Source Beutler Lab
Gene Symbol Ikzf1
Ensembl Gene ENSMUSG00000018654
Gene Name IKAROS family zinc finger 1
Synonyms Zfpn1a1, 5832432G11Rik, LyF-1, Ikaros
MMRRC Submission 038619-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0417 (G1)
Quality Score 149
Status Not validated
Chromosome 11
Chromosomal Location 11634980-11722926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 11719352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 353 (N353T)
Ref Sequence ENSEMBL: ENSMUSP00000018798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018798] [ENSMUST00000065433] [ENSMUST00000076700]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000018798
AA Change: N353T

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000018798
Gene: ENSMUSG00000018654
AA Change: N353T

DomainStartEndE-ValueType
ZnF_C2H2 58 80 8.02e-5 SMART
ZnF_C2H2 86 108 2.57e-3 SMART
ZnF_C2H2 114 137 8.22e-2 SMART
low complexity region 282 293 N/A INTRINSIC
ZnF_C2H2 371 393 7.49e0 SMART
ZnF_C2H2 399 423 5.34e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065433
AA Change: N460T

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000067372
Gene: ENSMUSG00000018654
AA Change: N460T

DomainStartEndE-ValueType
ZnF_C2H2 137 159 1.43e-1 SMART
ZnF_C2H2 165 187 8.02e-5 SMART
ZnF_C2H2 193 215 2.57e-3 SMART
ZnF_C2H2 221 244 8.22e-2 SMART
low complexity region 389 400 N/A INTRINSIC
ZnF_C2H2 478 500 7.49e0 SMART
ZnF_C2H2 506 530 5.34e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000076700
AA Change: N440T

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000075992
Gene: ENSMUSG00000018654
AA Change: N440T

DomainStartEndE-ValueType
ZnF_C2H2 117 139 1.43e-1 SMART
ZnF_C2H2 145 167 8.02e-5 SMART
ZnF_C2H2 173 195 2.57e-3 SMART
ZnF_C2H2 201 224 8.22e-2 SMART
low complexity region 369 380 N/A INTRINSIC
ZnF_C2H2 458 480 7.49e0 SMART
ZnF_C2H2 486 510 5.34e-1 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to a family of transcription factors that are characterized by a set of four DNA-binding zinc fingers at the N-terminus and two C-terminal zinc fingers involved in protein dimerization. It is regulated by both epigenetic and transcription factors. This protein is a transcriptional regulator of hematopoietic cell development and homeostasis. In addition, it is required to confer temporal competence to retinal progenitor cells during embryogenesis, demonstrating an essential function in nervous system development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous mutants have a variety of T, B, and hematopoeitic cell maturation defects. Heterozygotes for one allele exhibit dominant negative effects and mice develop lymphoproliferative disorders. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,199,244 (GRCm39) K217R probably damaging Het
1810024B03Rik A G 2: 127,028,864 (GRCm39) Y112H probably damaging Het
Acot2 T C 12: 84,037,387 (GRCm39) Y234H probably benign Het
Alox12e C T 11: 70,212,691 (GRCm39) V53I probably benign Het
Ankrd50 T C 3: 38,510,510 (GRCm39) H619R probably damaging Het
Arfgef3 A T 10: 18,479,259 (GRCm39) L1452Q probably damaging Het
Arhgap42 T C 9: 9,180,034 (GRCm39) S82G possibly damaging Het
Arhgef18 T C 8: 3,438,957 (GRCm39) probably benign Het
Bicra C A 7: 15,706,247 (GRCm39) R1398L probably damaging Het
Boc T C 16: 44,340,597 (GRCm39) T118A probably benign Het
Btnl9 A G 11: 49,066,422 (GRCm39) Y381H probably damaging Het
Cbln3 T G 14: 56,121,586 (GRCm39) E20A probably benign Het
Cdc42ep5 A G 7: 4,154,482 (GRCm39) L102P probably damaging Het
Csrnp3 A G 2: 65,849,887 (GRCm39) Y171C probably benign Het
Cyp2d9 A T 15: 82,340,152 (GRCm39) I181F probably damaging Het
Cyp7b1 T A 3: 18,150,855 (GRCm39) T295S probably damaging Het
Dbn1 C T 13: 55,622,729 (GRCm39) E585K probably damaging Het
Dok1 A T 6: 83,008,550 (GRCm39) D377E probably damaging Het
Eed A T 7: 89,620,760 (GRCm39) Y87* probably null Het
Entpd3 T C 9: 120,386,487 (GRCm39) V156A probably damaging Het
Exo5 T A 4: 120,779,269 (GRCm39) T199S probably damaging Het
Extl2 T C 3: 115,818,006 (GRCm39) I106T probably benign Het
Ezh2 A G 6: 47,528,660 (GRCm39) C291R probably benign Het
Flvcr1 A T 1: 190,743,416 (GRCm39) M466K probably benign Het
Fras1 G T 5: 96,839,231 (GRCm39) M1583I probably benign Het
Fzd9 G T 5: 135,278,473 (GRCm39) R471S probably damaging Het
Galr1 A T 18: 82,423,665 (GRCm39) F204Y probably damaging Het
Gna11 A T 10: 81,366,738 (GRCm39) I324N probably damaging Het
Gucy1a2 A G 9: 3,759,484 (GRCm39) E430G possibly damaging Het
Hhatl C T 9: 121,617,828 (GRCm39) A254T probably benign Het
Il7 T A 3: 7,641,087 (GRCm39) T110S probably damaging Het
Keg1 A G 19: 12,688,424 (GRCm39) N53D probably damaging Het
Klhl21 T C 4: 152,099,964 (GRCm39) I558T probably damaging Het
Lca5l G A 16: 95,963,853 (GRCm39) T357M probably damaging Het
Lrba T C 3: 86,622,961 (GRCm39) S2448P probably damaging Het
Map3k6 T A 4: 132,975,393 (GRCm39) Y709* probably null Het
Megf6 A G 4: 154,352,424 (GRCm39) E1261G probably benign Het
Mettl3 C T 14: 52,534,155 (GRCm39) G473D probably damaging Het
Mga A G 2: 119,733,271 (GRCm39) I40V probably damaging Het
Mmp13 T A 9: 7,276,602 (GRCm39) D232E probably benign Het
Nampt T C 12: 32,883,100 (GRCm39) V95A probably benign Het
Nbeal1 T C 1: 60,286,893 (GRCm39) V905A probably benign Het
Nomo1 A T 7: 45,718,122 (GRCm39) E840V possibly damaging Het
Nprl2 A T 9: 107,420,497 (GRCm39) I101F probably damaging Het
Nup160 A T 2: 90,565,771 (GRCm39) I1378F possibly damaging Het
Ogdhl T C 14: 32,048,936 (GRCm39) S69P probably damaging Het
Or2y17 T A 11: 49,231,500 (GRCm39) I47N possibly damaging Het
Or4a68 C A 2: 89,270,519 (GRCm39) V35L possibly damaging Het
Or4k77 A G 2: 111,199,450 (GRCm39) S158G possibly damaging Het
Or5be3 A T 2: 86,863,789 (GRCm39) Y259N probably damaging Het
Or8b12i G A 9: 20,082,510 (GRCm39) A119V probably damaging Het
Or8c16 A G 9: 38,130,751 (GRCm39) I211V probably benign Het
Or8c8 T C 9: 38,165,160 (GRCm39) F149S probably benign Het
Osbpl3 C T 6: 50,324,998 (GRCm39) V167I probably benign Het
Pclo T A 5: 14,763,036 (GRCm39) H3836Q unknown Het
Prkcg A T 7: 3,352,820 (GRCm39) probably null Het
Ror1 A T 4: 100,269,197 (GRCm39) H345L possibly damaging Het
Slc36a2 C T 11: 55,072,370 (GRCm39) probably null Het
Slc40a1 G A 1: 45,950,534 (GRCm39) P306L possibly damaging Het
Slc9a8 C A 2: 167,299,264 (GRCm39) T239K probably benign Het
Snapc3 A G 4: 83,368,399 (GRCm39) I299V probably benign Het
Sp3 G A 2: 72,801,845 (GRCm39) A56V possibly damaging Het
Spag17 T A 3: 99,972,870 (GRCm39) S1361T probably benign Het
Sptbn2 A G 19: 4,787,954 (GRCm39) T978A probably benign Het
Stom C A 2: 35,211,644 (GRCm39) V126F probably damaging Het
Stpg2 A G 3: 138,924,082 (GRCm39) T162A probably damaging Het
Stxbp6 G A 12: 44,949,740 (GRCm39) T63M probably damaging Het
Tatdn1 A C 15: 58,793,199 (GRCm39) I69S probably benign Het
Tbata A T 10: 61,016,118 (GRCm39) D198V probably damaging Het
Tbc1d5 T C 17: 51,063,733 (GRCm39) I638V probably benign Het
Tomm70a A G 16: 56,970,266 (GRCm39) D548G probably benign Het
Ust A G 10: 8,121,700 (GRCm39) F303L probably damaging Het
Vps13d A G 4: 144,703,130 (GRCm39) S4306P probably benign Het
Zbed6 A T 1: 133,586,276 (GRCm39) S354T probably benign Het
Zfp691 A G 4: 119,027,693 (GRCm39) S180P possibly damaging Het
Other mutations in Ikzf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Ikzf1 APN 11 11,718,923 (GRCm39) missense probably damaging 1.00
IGL01367:Ikzf1 APN 11 11,698,358 (GRCm39) missense probably benign 0.04
IGL01823:Ikzf1 APN 11 11,719,091 (GRCm39) missense possibly damaging 0.64
IGL02342:Ikzf1 APN 11 11,650,216 (GRCm39) utr 5 prime probably benign
IGL02452:Ikzf1 APN 11 11,698,545 (GRCm39) missense probably damaging 1.00
IGL03209:Ikzf1 APN 11 11,650,226 (GRCm39) missense probably benign
IGL03236:Ikzf1 APN 11 11,657,848 (GRCm39) missense probably damaging 1.00
Herrscher UTSW 11 11,718,961 (GRCm39) nonsense probably null
Star_lord UTSW 11 11,719,448 (GRCm39) missense probably damaging 1.00
waxwing UTSW 11 11,698,464 (GRCm39) nonsense probably null
R0133:Ikzf1 UTSW 11 11,691,015 (GRCm39) splice site probably null
R0633:Ikzf1 UTSW 11 11,719,223 (GRCm39) missense probably damaging 1.00
R0734:Ikzf1 UTSW 11 11,708,195 (GRCm39) missense probably damaging 1.00
R1693:Ikzf1 UTSW 11 11,657,838 (GRCm39) missense probably damaging 1.00
R2114:Ikzf1 UTSW 11 11,719,473 (GRCm39) missense probably damaging 1.00
R2927:Ikzf1 UTSW 11 11,719,324 (GRCm39) missense probably damaging 1.00
R4250:Ikzf1 UTSW 11 11,704,166 (GRCm39) missense probably damaging 1.00
R5156:Ikzf1 UTSW 11 11,719,448 (GRCm39) missense probably damaging 1.00
R5912:Ikzf1 UTSW 11 11,698,464 (GRCm39) nonsense probably null
R6274:Ikzf1 UTSW 11 11,718,961 (GRCm39) nonsense probably null
R7614:Ikzf1 UTSW 11 11,719,019 (GRCm39) missense probably damaging 1.00
R7727:Ikzf1 UTSW 11 11,698,339 (GRCm39) missense probably damaging 1.00
R7759:Ikzf1 UTSW 11 11,719,256 (GRCm39) missense probably damaging 0.98
R8758:Ikzf1 UTSW 11 11,711,359 (GRCm39) missense probably benign 0.03
R8946:Ikzf1 UTSW 11 11,719,485 (GRCm39) missense possibly damaging 0.86
R8998:Ikzf1 UTSW 11 11,635,013 (GRCm39) start gained probably benign
R8999:Ikzf1 UTSW 11 11,635,013 (GRCm39) start gained probably benign
R9624:Ikzf1 UTSW 11 11,719,219 (GRCm39) missense probably damaging 1.00
Z1176:Ikzf1 UTSW 11 11,708,194 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- ATAACTTGCTGCTGCTGTCCAAGG -3'
(R):5'- TCGTACCTGTCCTGGCTGTGATAAC -3'

Sequencing Primer
(F):5'- AAGGCCAAGTCTGTGTCATC -3'
(R):5'- TCCTGGCTGTGATAACCACAC -3'
Posted On 2013-05-23