Incidental Mutation 'IGL01537:Ikzf3'
ID 89998
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ikzf3
Ensembl Gene ENSMUSG00000018168
Gene Name IKAROS family zinc finger 3
Synonyms Zfpn1a3, 5830411O07Rik, Aiolos
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01537
Quality Score
Status
Chromosome 11
Chromosomal Location 98355728-98436857 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98407718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 41 (D41G)
Ref Sequence ENSEMBL: ENSMUSP00000099430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103141]
AlphaFold O08900
Predicted Effect probably damaging
Transcript: ENSMUST00000103141
AA Change: D41G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099430
Gene: ENSMUSG00000018168
AA Change: D41G

DomainStartEndE-ValueType
ZnF_C2H2 117 139 4.34e0 SMART
ZnF_C2H2 145 167 8.02e-5 SMART
ZnF_C2H2 173 195 4.47e-3 SMART
ZnF_C2H2 201 221 7.11e0 SMART
ZnF_C2H2 450 472 7.11e0 SMART
ZnF_C2H2 478 502 1.64e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152400
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygous mutants exhibit greatly reduced B cell populations in the peritoneum, marginal zone and recirculating bone marrow. Aging mutants express autoantibodies, frequently develop B cell lymphomas, and display symptoms characteristic of SLE. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn1l T C 8: 110,459,312 (GRCm39) R317G probably benign Het
B130006D01Rik T A 11: 95,616,992 (GRCm39) probably benign Het
Brinp2 T C 1: 158,074,379 (GRCm39) T581A probably damaging Het
Cacna1b A T 2: 24,548,540 (GRCm39) I1179N probably damaging Het
Cacnb3 A G 15: 98,541,301 (GRCm39) D434G probably damaging Het
Cdh19 T C 1: 110,847,341 (GRCm39) T423A possibly damaging Het
Chkb C T 15: 89,311,986 (GRCm39) probably benign Het
Cit T C 5: 116,071,913 (GRCm39) Y623H probably benign Het
Clstn3 G A 6: 124,408,559 (GRCm39) R918C possibly damaging Het
Dnah2 T A 11: 69,406,906 (GRCm39) M200L probably benign Het
Dnah9 T A 11: 65,838,506 (GRCm39) H3097L probably benign Het
Dst T A 1: 34,314,401 (GRCm39) L4217H probably damaging Het
Fam107b T A 2: 3,779,565 (GRCm39) L80Q probably damaging Het
Fgfr1 T A 8: 26,045,595 (GRCm39) C55S probably damaging Het
Igkv4-71 C A 6: 69,220,264 (GRCm39) G78* probably null Het
Igsf10 A G 3: 59,237,452 (GRCm39) S910P probably benign Het
Larp1 T A 11: 57,933,648 (GRCm39) I358N possibly damaging Het
Marchf5 C T 19: 37,188,067 (GRCm39) probably benign Het
Mpdz T C 4: 81,287,895 (GRCm39) T455A probably damaging Het
Myo1b A G 1: 51,815,510 (GRCm39) V612A possibly damaging Het
Nipbl T C 15: 8,380,023 (GRCm39) D923G probably benign Het
Nlrp4b T C 7: 10,448,918 (GRCm39) F7L probably damaging Het
Npas4 T C 19: 5,037,355 (GRCm39) N313S possibly damaging Het
Nynrin T A 14: 56,109,502 (GRCm39) N1536K possibly damaging Het
Or10d5 T A 9: 39,861,921 (GRCm39) T49S probably benign Het
Or13a22 A G 7: 140,072,751 (GRCm39) N67D probably damaging Het
Or4c107 T C 2: 88,788,885 (GRCm39) V25A probably benign Het
Pclo T C 5: 14,589,647 (GRCm39) V649A unknown Het
Pom121 A G 5: 135,421,389 (GRCm39) probably benign Het
Ptcd2 A T 13: 99,466,521 (GRCm39) I224N possibly damaging Het
Rsrp1 C T 4: 134,651,290 (GRCm39) P18L unknown Het
Sash1 A T 10: 8,605,422 (GRCm39) N989K probably damaging Het
Scn2a T A 2: 65,546,219 (GRCm39) H927Q probably benign Het
Selenoi G T 5: 30,461,222 (GRCm39) V128F probably damaging Het
Slc25a42 T C 8: 70,642,092 (GRCm39) I117V probably benign Het
Spata1 A G 3: 146,195,558 (GRCm39) probably benign Het
Sptlc3 A T 2: 139,431,615 (GRCm39) Y379F possibly damaging Het
Tent4a A T 13: 69,648,678 (GRCm39) S693T probably benign Het
Tinag C T 9: 76,952,885 (GRCm39) R33K probably benign Het
Trappc8 T C 18: 20,968,061 (GRCm39) D1092G probably benign Het
Xntrpc A G 7: 101,722,401 (GRCm39) E22G probably damaging Het
Zbtb7b A G 3: 89,287,278 (GRCm39) M397T possibly damaging Het
Zgpat A G 2: 181,020,682 (GRCm39) D285G probably benign Het
Other mutations in Ikzf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01477:Ikzf3 APN 11 98,379,683 (GRCm39) missense probably damaging 1.00
IGL03376:Ikzf3 APN 11 98,379,779 (GRCm39) missense probably damaging 1.00
R0030:Ikzf3 UTSW 11 98,358,438 (GRCm39) missense probably benign 0.01
R0266:Ikzf3 UTSW 11 98,358,143 (GRCm39) missense probably benign
R1302:Ikzf3 UTSW 11 98,407,746 (GRCm39) missense probably benign
R1464:Ikzf3 UTSW 11 98,407,731 (GRCm39) missense probably benign 0.00
R1464:Ikzf3 UTSW 11 98,407,731 (GRCm39) missense probably benign 0.00
R1500:Ikzf3 UTSW 11 98,409,521 (GRCm39) missense probably benign 0.16
R1531:Ikzf3 UTSW 11 98,381,272 (GRCm39) missense probably damaging 0.98
R1599:Ikzf3 UTSW 11 98,357,919 (GRCm39) missense probably damaging 1.00
R1623:Ikzf3 UTSW 11 98,381,157 (GRCm39) critical splice donor site probably null
R2154:Ikzf3 UTSW 11 98,376,475 (GRCm39) nonsense probably null
R3915:Ikzf3 UTSW 11 98,381,412 (GRCm39) missense probably damaging 1.00
R4004:Ikzf3 UTSW 11 98,379,843 (GRCm39) missense probably damaging 1.00
R4005:Ikzf3 UTSW 11 98,379,843 (GRCm39) missense probably damaging 1.00
R4075:Ikzf3 UTSW 11 98,358,469 (GRCm39) nonsense probably null
R4210:Ikzf3 UTSW 11 98,381,313 (GRCm39) missense probably benign 0.00
R4804:Ikzf3 UTSW 11 98,381,400 (GRCm39) missense probably benign 0.20
R5107:Ikzf3 UTSW 11 98,381,302 (GRCm39) missense probably damaging 1.00
R5266:Ikzf3 UTSW 11 98,381,406 (GRCm39) missense probably benign 0.11
R5267:Ikzf3 UTSW 11 98,381,406 (GRCm39) missense probably benign 0.11
R5450:Ikzf3 UTSW 11 98,357,912 (GRCm39) missense probably damaging 1.00
R6237:Ikzf3 UTSW 11 98,357,879 (GRCm39) missense probably damaging 1.00
R6557:Ikzf3 UTSW 11 98,407,707 (GRCm39) missense probably benign
R7832:Ikzf3 UTSW 11 98,409,525 (GRCm39) missense probably benign
R8058:Ikzf3 UTSW 11 98,407,753 (GRCm39) nonsense probably null
R8073:Ikzf3 UTSW 11 98,358,255 (GRCm39) missense probably benign 0.05
R9564:Ikzf3 UTSW 11 98,358,032 (GRCm39) missense probably damaging 1.00
Z1176:Ikzf3 UTSW 11 98,358,007 (GRCm39) missense probably benign 0.01
Posted On 2013-12-03