Incidental Mutation 'R5166:Aff1'
ID 397292
Institutional Source Beutler Lab
Gene Symbol Aff1
Ensembl Gene ENSMUSG00000029313
Gene Name AF4/FMR2 family, member 1
Synonyms Mllt2h, 9630032B01Rik, Af4, Rob
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R5166 (G1)
Quality Score 141
Status Not validated
Chromosome 5
Chromosomal Location 103840307-104003188 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) A to G at 103902523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031256] [ENSMUST00000054979] [ENSMUST00000153165]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031256
SMART Domains Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313

DomainStartEndE-ValueType
Pfam:AF-4 16 1223 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000054979
SMART Domains Protein: ENSMUSP00000059744
Gene: ENSMUSG00000029313

DomainStartEndE-ValueType
Pfam:AF-4 8 1216 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126335
Predicted Effect probably benign
Transcript: ENSMUST00000153165
SMART Domains Protein: ENSMUSP00000119631
Gene: ENSMUSG00000029313

DomainStartEndE-ValueType
Pfam:AF-4 16 871 N/A PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome family of proteins, which have been implicated in human childhood lymphoblastic leukemia, Fragile X E site mental retardation, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome domain, and a C-terminal homology domain. Knockout of the mouse gene by homologous recombination severely affects early events in lymphopoiesis, including precursor proliferation or recruitment, but is dispensable for terminal differentiation. In addition, an autosomal dominant missense mutation results in several phenotypes including ataxia and adult-onset Purkinje cell loss in the cerebellum, indicating a role in Purkinje cell maintenance and function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired B and T cell development. Heterozygotes for an ENU-induced mutation exhibit small size, ataxia, adult-onset Purkinje cell loss, cataracts, reduced survival, and low fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad12 T C 5: 121,738,083 (GRCm39) T435A probably benign Het
Adcy3 T A 12: 4,184,438 (GRCm39) I38N probably damaging Het
Asxl1 A G 2: 153,243,041 (GRCm39) E1197G probably damaging Het
Brinp3 T A 1: 146,777,105 (GRCm39) N517K probably damaging Het
Carmil1 C T 13: 24,338,966 (GRCm39) probably null Het
Ccdc185 G A 1: 182,576,564 (GRCm39) Q42* probably null Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh10 A G 15: 19,013,446 (GRCm39) E682G probably damaging Het
Col6a3 C A 1: 90,738,330 (GRCm39) R456L probably damaging Het
Egf C T 3: 129,529,489 (GRCm39) R307H probably benign Het
Flt4 T C 11: 49,524,084 (GRCm39) probably null Het
Fstl5 A C 3: 76,536,267 (GRCm39) K26Q possibly damaging Het
Gk5 G T 9: 96,056,821 (GRCm39) A413S probably damaging Het
Glcci1 T A 6: 8,537,854 (GRCm39) S157R probably benign Het
Gzmc G A 14: 56,471,433 (GRCm39) A36V probably damaging Het
Hexb T C 13: 97,318,512 (GRCm39) N283S probably benign Het
Hydin A G 8: 111,249,774 (GRCm39) E2239G possibly damaging Het
Igkv10-95 A T 6: 68,657,544 (GRCm39) Y20F probably benign Het
Il17re A G 6: 113,439,923 (GRCm39) T181A probably benign Het
Kcnh6 G A 11: 105,911,145 (GRCm39) A514T possibly damaging Het
Kcnk10 G A 12: 98,401,254 (GRCm39) R460W probably damaging Het
Krtap5-2 A T 7: 141,728,721 (GRCm39) S320T unknown Het
Larp1b G T 3: 40,918,487 (GRCm39) E24* probably null Het
Mettl22 A G 16: 8,296,115 (GRCm39) T135A probably benign Het
Mlh1 A G 9: 111,070,581 (GRCm39) V378A probably benign Het
Mmrn1 A T 6: 60,953,474 (GRCm39) H585L probably benign Het
Myh14 A G 7: 44,278,279 (GRCm39) F1024L probably damaging Het
Nbea A T 3: 55,926,874 (GRCm39) H776Q probably damaging Het
Nod2 A G 8: 89,390,875 (GRCm39) D372G possibly damaging Het
Nptn C T 9: 58,526,263 (GRCm39) R137* probably null Het
Or9k2 T C 10: 129,998,430 (GRCm39) Y255C possibly damaging Het
Pm20d2 C T 4: 33,181,803 (GRCm39) V267I probably benign Het
Rassf10 A G 7: 112,553,627 (GRCm39) D76G probably benign Het
Rbbp5 A G 1: 132,418,303 (GRCm39) T41A possibly damaging Het
Rttn T C 18: 89,031,218 (GRCm39) V643A possibly damaging Het
Sbno2 C A 10: 79,902,762 (GRCm39) E421* probably null Het
Slc17a3 T C 13: 24,026,525 (GRCm39) probably null Het
Slc1a6 T A 10: 78,632,103 (GRCm39) probably null Het
Slco2b1 A G 7: 99,338,220 (GRCm39) S106P possibly damaging Het
Spef1 T C 2: 131,016,511 (GRCm39) N28S probably damaging Het
Srebf2 C A 15: 82,069,603 (GRCm39) T675N probably damaging Het
Srp68 C A 11: 116,156,300 (GRCm39) E147D probably damaging Het
Tbcd T A 11: 121,500,216 (GRCm39) L1114H possibly damaging Het
Tex15 T C 8: 34,066,420 (GRCm39) V1950A probably benign Het
Tnfsf9 T A 17: 57,413,263 (GRCm39) F148Y possibly damaging Het
Traf6 A G 2: 101,520,402 (GRCm39) D150G probably benign Het
Ttn A G 2: 76,693,717 (GRCm39) Y262H possibly damaging Het
Unc93b1 A G 19: 3,994,027 (GRCm39) Y386C probably damaging Het
Vmn1r226 A T 17: 20,908,125 (GRCm39) E119V probably benign Het
Wrn A T 8: 33,842,100 (GRCm39) probably null Het
Zfp398 A G 6: 47,842,838 (GRCm39) I165V probably benign Het
Zfp850 A T 7: 27,689,781 (GRCm39) C142* probably null Het
Other mutations in Aff1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Aff1 APN 5 103,931,943 (GRCm39) missense probably damaging 1.00
IGL02060:Aff1 APN 5 103,931,715 (GRCm39) missense possibly damaging 0.51
IGL02081:Aff1 APN 5 103,982,171 (GRCm39) missense probably damaging 1.00
IGL02108:Aff1 APN 5 103,958,975 (GRCm39) critical splice donor site probably null
IGL03056:Aff1 APN 5 103,958,947 (GRCm39) missense probably damaging 0.99
IGL03332:Aff1 APN 5 103,988,971 (GRCm39) nonsense probably null
IGL03340:Aff1 APN 5 103,931,670 (GRCm39) missense possibly damaging 0.76
IGL03382:Aff1 APN 5 103,988,926 (GRCm39) missense possibly damaging 0.86
PIT4495001:Aff1 UTSW 5 103,997,391 (GRCm39) missense probably benign 0.16
R0013:Aff1 UTSW 5 103,976,350 (GRCm39) nonsense probably null
R0219:Aff1 UTSW 5 103,958,906 (GRCm39) splice site probably benign
R0520:Aff1 UTSW 5 103,995,617 (GRCm39) nonsense probably null
R0607:Aff1 UTSW 5 103,976,320 (GRCm39) missense probably damaging 1.00
R0883:Aff1 UTSW 5 103,974,004 (GRCm39) splice site probably benign
R1662:Aff1 UTSW 5 103,988,923 (GRCm39) missense probably damaging 0.99
R1730:Aff1 UTSW 5 103,981,378 (GRCm39) missense probably damaging 1.00
R1850:Aff1 UTSW 5 103,981,773 (GRCm39) missense probably damaging 1.00
R3411:Aff1 UTSW 5 103,902,572 (GRCm39) start codon destroyed probably null 0.53
R4007:Aff1 UTSW 5 103,932,088 (GRCm39) missense probably benign 0.15
R4207:Aff1 UTSW 5 103,966,854 (GRCm39) critical splice donor site probably null
R4702:Aff1 UTSW 5 103,958,935 (GRCm39) missense probably damaging 1.00
R4730:Aff1 UTSW 5 103,990,939 (GRCm39) missense possibly damaging 0.95
R4784:Aff1 UTSW 5 103,994,905 (GRCm39) nonsense probably null
R5294:Aff1 UTSW 5 103,959,023 (GRCm39) intron probably benign
R5435:Aff1 UTSW 5 103,902,198 (GRCm39) unclassified probably benign
R5436:Aff1 UTSW 5 103,931,736 (GRCm39) missense probably damaging 1.00
R6065:Aff1 UTSW 5 103,990,118 (GRCm39) missense probably damaging 1.00
R6114:Aff1 UTSW 5 103,990,163 (GRCm39) missense probably damaging 0.97
R6298:Aff1 UTSW 5 103,902,586 (GRCm39) missense possibly damaging 0.68
R7095:Aff1 UTSW 5 103,990,951 (GRCm39) missense probably damaging 0.97
R7261:Aff1 UTSW 5 103,976,245 (GRCm39) missense probably damaging 0.97
R7350:Aff1 UTSW 5 103,994,958 (GRCm39) missense probably benign 0.28
R7423:Aff1 UTSW 5 103,994,967 (GRCm39) missense probably damaging 1.00
R7469:Aff1 UTSW 5 103,981,413 (GRCm39) missense probably benign 0.00
R7604:Aff1 UTSW 5 103,995,675 (GRCm39) missense probably benign 0.09
R7607:Aff1 UTSW 5 103,997,325 (GRCm39) missense possibly damaging 0.72
R8014:Aff1 UTSW 5 103,981,735 (GRCm39) missense possibly damaging 0.82
R8219:Aff1 UTSW 5 103,994,199 (GRCm39) missense probably damaging 1.00
R8315:Aff1 UTSW 5 103,958,956 (GRCm39) missense probably damaging 0.99
R8837:Aff1 UTSW 5 103,982,078 (GRCm39) missense possibly damaging 0.77
R8957:Aff1 UTSW 5 103,981,634 (GRCm39) missense possibly damaging 0.82
R9159:Aff1 UTSW 5 103,990,131 (GRCm39) missense possibly damaging 0.89
R9377:Aff1 UTSW 5 103,981,685 (GRCm39) missense probably damaging 0.96
R9381:Aff1 UTSW 5 103,981,733 (GRCm39) missense possibly damaging 0.85
R9705:Aff1 UTSW 5 103,932,276 (GRCm39) missense possibly damaging 0.88
R9725:Aff1 UTSW 5 103,994,931 (GRCm39) missense probably damaging 0.99
R9764:Aff1 UTSW 5 103,997,365 (GRCm39) missense probably damaging 1.00
Z1177:Aff1 UTSW 5 103,931,619 (GRCm39) missense possibly damaging 0.71
Predicted Primers
Posted On 2016-07-06