Incidental Mutation 'IGL03332:Aff1'
ID 416895
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aff1
Ensembl Gene ENSMUSG00000029313
Gene Name AF4/FMR2 family, member 1
Synonyms 9630032B01Rik, Af4, Rob, Mllt2h
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.381) question?
Stock # IGL03332
Quality Score
Chromosome 5
Chromosomal Location 103692374-103855322 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 103841105 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 846 (S846*)
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 null
Transcript: ENSMUST00000031256
AA Change: S846*
SMART Domains Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313
AA Change: S846*

Pfam:AF-4 16 1223 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000054979
AA Change: S838*
SMART Domains Protein: ENSMUSP00000059744
Gene: ENSMUSG00000029313
AA Change: S838*

Pfam:AF-4 8 1216 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000153165
AA Change: S846*
SMART Domains Protein: ENSMUSP00000119631
Gene: ENSMUSG00000029313
AA Change: S846*

Pfam:AF-4 16 871 N/A PFAM
Coding Region Coverage
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cnga2 A G X: 72,006,194 Y155C probably damaging Het
Cngb1 A G 8: 95,298,846 probably benign Het
D430042O09Rik T A 7: 125,820,105 Y481* probably null Het
Ece1 T C 4: 137,946,355 Y405H probably damaging Het
Entpd5 T C 12: 84,382,228 probably null Het
Itpr2 T C 6: 146,144,149 E2573G probably damaging Het
Mia2 T A 12: 59,108,398 I300N probably damaging Het
Mtcl1 G A 17: 66,338,019 P1478S probably damaging Het
Myo9b A G 8: 71,348,774 E1192G possibly damaging Het
Nol6 C A 4: 41,120,735 D405Y probably damaging Het
Rpl4 T C 9: 64,176,088 probably benign Het
Rreb1 G T 13: 37,930,916 E750D probably benign Het
Slc1a2 A G 2: 102,748,534 M265V possibly damaging Het
Tnik C T 3: 28,666,155 T1254I probably damaging Het
Unc80 G A 1: 66,503,631 G348D probably damaging Het
Wdr19 A G 5: 65,227,143 T527A possibly damaging Het
Zbtb21 T C 16: 97,952,333 E250G possibly damaging Het
Zbtb8b G A 4: 129,428,568 P367S probably damaging Het
Other mutations in Aff1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Aff1 APN 5 103784077 missense probably damaging 1.00
IGL02060:Aff1 APN 5 103783849 missense possibly damaging 0.51
IGL02081:Aff1 APN 5 103834305 missense probably damaging 1.00
IGL02108:Aff1 APN 5 103811109 critical splice donor site probably null
IGL03056:Aff1 APN 5 103811081 missense probably damaging 0.99
IGL03340:Aff1 APN 5 103783804 missense possibly damaging 0.76
IGL03382:Aff1 APN 5 103841060 missense possibly damaging 0.86
PIT4495001:Aff1 UTSW 5 103849525 missense probably benign 0.16
R0013:Aff1 UTSW 5 103828484 nonsense probably null
R0219:Aff1 UTSW 5 103811040 splice site probably benign
R0520:Aff1 UTSW 5 103847751 nonsense probably null
R0607:Aff1 UTSW 5 103828454 missense probably damaging 1.00
R0883:Aff1 UTSW 5 103826138 splice site probably benign
R1662:Aff1 UTSW 5 103841057 missense probably damaging 0.99
R1730:Aff1 UTSW 5 103833512 missense probably damaging 1.00
R1850:Aff1 UTSW 5 103833907 missense probably damaging 1.00
R3411:Aff1 UTSW 5 103754706 start codon destroyed probably null 0.53
R4007:Aff1 UTSW 5 103784222 missense probably benign 0.15
R4207:Aff1 UTSW 5 103818988 critical splice donor site probably null
R4702:Aff1 UTSW 5 103811069 missense probably damaging 1.00
R4730:Aff1 UTSW 5 103843073 missense possibly damaging 0.95
R4784:Aff1 UTSW 5 103847039 nonsense probably null
R5166:Aff1 UTSW 5 103754657 start gained probably benign
R5294:Aff1 UTSW 5 103811157 intron probably benign
R5435:Aff1 UTSW 5 103754332 unclassified probably benign
R5436:Aff1 UTSW 5 103783870 missense probably damaging 1.00
R6065:Aff1 UTSW 5 103842252 missense probably damaging 1.00
R6114:Aff1 UTSW 5 103842297 missense probably damaging 0.97
R6298:Aff1 UTSW 5 103754720 missense possibly damaging 0.68
R7095:Aff1 UTSW 5 103843085 missense probably damaging 0.97
R7261:Aff1 UTSW 5 103828379 missense probably damaging 0.97
R7350:Aff1 UTSW 5 103847092 missense probably benign 0.28
R7423:Aff1 UTSW 5 103847101 missense probably damaging 1.00
R7469:Aff1 UTSW 5 103833547 missense probably benign 0.00
R7604:Aff1 UTSW 5 103847809 missense probably benign 0.09
R7607:Aff1 UTSW 5 103849459 missense possibly damaging 0.72
R8014:Aff1 UTSW 5 103833869 missense possibly damaging 0.82
R8219:Aff1 UTSW 5 103846333 missense probably damaging 1.00
R8315:Aff1 UTSW 5 103811090 missense probably damaging 0.99
R8837:Aff1 UTSW 5 103834212 missense possibly damaging 0.77
R8957:Aff1 UTSW 5 103833768 missense possibly damaging 0.82
R9159:Aff1 UTSW 5 103842265 missense possibly damaging 0.89
R9377:Aff1 UTSW 5 103833819 missense probably damaging 0.96
R9381:Aff1 UTSW 5 103833867 missense possibly damaging 0.85
R9705:Aff1 UTSW 5 103784410 missense possibly damaging 0.88
R9725:Aff1 UTSW 5 103847065 missense probably damaging 0.99
R9764:Aff1 UTSW 5 103849499 missense probably damaging 1.00
Z1177:Aff1 UTSW 5 103783753 missense possibly damaging 0.71
Posted On 2016-08-02