Incidental Mutation 'IGL00773:Aff1'
ID12447
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aff1
Ensembl Gene ENSMUSG00000029313
Gene NameAF4/FMR2 family, member 1
Synonyms9630032B01Rik, Af4, Rob, Mllt2h
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.287) question?
Stock #IGL00773
Quality Score
Status
Chromosome5
Chromosomal Location103692374-103855322 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 103784077 bp
ZygosityHeterozygous
Amino Acid Change Serine to Phenylalanine at position 195 (S195F)
Ref Sequence ENSEMBL: ENSMUSP00000119631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031256] [ENSMUST00000054979] [ENSMUST00000153165]
Predicted Effect probably damaging
Transcript: ENSMUST00000031256
AA Change: S195F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313
AA Change: S195F

DomainStartEndE-ValueType
Pfam:AF-4 16 1223 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000054979
AA Change: S187F

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000059744
Gene: ENSMUSG00000029313
AA Change: S187F

DomainStartEndE-ValueType
Pfam:AF-4 8 1216 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152145
Predicted Effect probably damaging
Transcript: ENSMUST00000153165
AA Change: S195F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119631
Gene: ENSMUSG00000029313
AA Change: S195F

DomainStartEndE-ValueType
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actc1 T C 2: 114,048,113 probably benign Het
Atm G T 9: 53,522,144 H269N probably benign Het
Ccdc144b A G 3: 36,035,337 L146P probably damaging Het
Cdc25c A T 18: 34,747,241 S147T probably benign Het
Cdnf A G 2: 3,519,355 D57G possibly damaging Het
Cep170 T C 1: 176,755,399 D1138G probably damaging Het
Cfap70 A G 14: 20,447,534 S51P probably damaging Het
Csmd3 A G 15: 47,590,719 M3577T probably damaging Het
Cyb5rl C T 4: 107,084,296 A246V probably benign Het
Dcaf1 T A 9: 106,858,333 S827T probably benign Het
Epha3 T A 16: 63,566,684 Q862L probably damaging Het
Igsf10 A G 3: 59,331,539 V407A probably benign Het
Myh2 T C 11: 67,194,421 I1751T probably benign Het
Pcm1 T C 8: 41,274,277 L528P probably damaging Het
Pla2g7 T G 17: 43,602,871 I235S probably damaging Het
Plekhh2 C T 17: 84,606,868 T1233M probably benign Het
Ptpn21 C T 12: 98,688,313 M798I probably benign Het
Ptprz1 A G 6: 23,002,629 K1573E probably benign Het
Rassf6 C T 5: 90,604,140 V272M probably damaging Het
Rprd2 A T 3: 95,765,109 F994Y probably damaging Het
Slc13a1 C T 6: 24,118,017 M240I possibly damaging Het
Slc22a6 A T 19: 8,621,868 I288F probably benign Het
Slc6a3 T A 13: 73,544,741 I160N probably damaging Het
Slfn10-ps T A 11: 83,035,529 noncoding transcript Het
Snx14 A T 9: 88,394,539 D564E probably damaging Het
Tceanc T A X: 166,502,861 L179F probably benign Het
Tpm2 T C 4: 43,518,251 K251E probably damaging Het
Trpm2 T A 10: 77,949,214 R191* probably null Het
Trpm3 T A 19: 22,900,159 M602K possibly damaging Het
Zbtb21 A T 16: 97,952,320 D282E probably benign Het
Other mutations in Aff1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03332:Aff1 APN 5 103841105 nonsense probably null
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
Posted On2012-12-06