Incidental Mutation 'R5294:Aff1'
ID 405287
Institutional Source Beutler Lab
Gene Symbol Aff1
Ensembl Gene ENSMUSG00000029313
Gene Name AF4/FMR2 family, member 1
Synonyms 9630032B01Rik, Af4, Rob, Mllt2h
MMRRC Submission 042877-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R5294 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 103692374-103855322 bp(+) (GRCm38)
Type of Mutation intron
DNA Base Change (assembly) A to G at 103811157 bp (GRCm38)
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

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

Pfam:AF-4 8 1216 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152145
Predicted Effect probably benign
Transcript: ENSMUST00000153165
SMART Domains Protein: ENSMUSP00000119631
Gene: ENSMUSG00000029313

Pfam:AF-4 16 871 N/A PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 97% (70/72)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik T C 9: 89,152,003 (GRCm38) noncoding transcript Het
Acaca A G 11: 84,391,519 (GRCm38) E2154G probably benign Het
Acacb T C 5: 114,241,952 (GRCm38) F2056L probably damaging Het
Amn1 T A 6: 149,185,124 (GRCm38) probably benign Het
Arid1a C A 4: 133,691,055 (GRCm38) probably benign Het
Aste1 T A 9: 105,402,705 (GRCm38) probably null Het
Asxl3 T A 18: 22,516,439 (GRCm38) V495D possibly damaging Het
Atp1a3 T A 7: 24,988,048 (GRCm38) H688L probably damaging Het
B3gnt8 T C 7: 25,628,766 (GRCm38) L207P probably damaging Het
Baz2b T C 2: 59,978,602 (GRCm38) H101R probably benign Het
Bicc1 G A 10: 70,947,900 (GRCm38) T387M possibly damaging Het
Champ1 A C 8: 13,878,981 (GRCm38) K380Q probably damaging Het
Cnst A G 1: 179,610,440 (GRCm38) E523G probably benign Het
Cops6 G C 5: 138,161,116 (GRCm38) probably benign Het
Cp G C 3: 19,966,316 (GRCm38) V158L probably benign Het
Cyfip1 T A 7: 55,873,483 (GRCm38) M52K possibly damaging Het
Dars1 A T 1: 128,364,302 (GRCm38) F480I probably benign Het
Diaph1 T C 18: 37,897,580 (GRCm38) M274V unknown Het
Diaph1 C A 18: 37,897,550 (GRCm38) E284* probably null Het
Dock8 G A 19: 25,061,153 (GRCm38) V68M probably benign Het
Elavl4 A G 4: 110,211,430 (GRCm38) F247L possibly damaging Het
Emc10 C T 7: 44,496,439 (GRCm38) probably benign Het
Fbxw16 T C 9: 109,436,644 (GRCm38) D369G probably benign Het
Fgr A T 4: 132,997,500 (GRCm38) D304V probably benign Het
Filip1l G A 16: 57,570,036 (GRCm38) S91N possibly damaging Het
Haus8 A G 8: 71,255,710 (GRCm38) S103P unknown Het
Hscb A G 5: 110,834,792 (GRCm38) L143P probably damaging Het
Hsd11b2 A T 8: 105,523,297 (GRCm38) M347L probably benign Het
Jrk C A 15: 74,707,336 (GRCm38) E33D possibly damaging Het
Kbtbd8 T A 6: 95,121,832 (GRCm38) Y123* probably null Het
Lrrc37 A G 11: 103,616,231 (GRCm38) probably benign Het
Mis18bp1 A C 12: 65,157,043 (GRCm38) M59R probably damaging Het
Mrps27 T C 13: 99,409,873 (GRCm38) V260A probably damaging Het
Ncapg2 G T 12: 116,427,794 (GRCm38) V488L possibly damaging Het
Nepn A T 10: 52,400,800 (GRCm38) N211Y probably benign Het
Ntrk3 A T 7: 78,517,506 (GRCm38) probably null Het
Or10x4 A T 1: 174,391,225 (GRCm38) Y52F probably benign Het
Or11h23 A G 14: 50,710,443 (GRCm38) T38A possibly damaging Het
Or11h23 A G 14: 50,710,779 (GRCm38) I150V probably benign Het
Or52w1 C T 7: 105,368,413 (GRCm38) T20I probably benign Het
Otud4 A T 8: 79,672,892 (GRCm38) Q744L possibly damaging Het
P2ry14 A T 3: 59,115,568 (GRCm38) I166N possibly damaging Het
Pak2 T A 16: 32,021,830 (GRCm38) N478Y probably damaging Het
Papss2 A G 19: 32,639,000 (GRCm38) D202G probably benign Het
Pcdh7 C A 5: 57,728,111 (GRCm38) probably null Het
Peg3 C A 7: 6,717,849 (GRCm38) S19I possibly damaging Het
Prim2 G T 1: 33,668,893 (GRCm38) T40K probably benign Het
Ranbp2 T C 10: 58,478,668 (GRCm38) F1737L probably benign Het
Rex2 A C 4: 147,057,985 (GRCm38) N310T probably benign Het
Rnf123 AT ATT 9: 108,064,003 (GRCm38) probably null Het
Rnf39 C T 17: 36,947,200 (GRCm38) A86V probably damaging Het
Ror1 A T 4: 100,425,938 (GRCm38) N400I probably benign Het
Slc38a8 C T 8: 119,494,289 (GRCm38) G177D probably damaging Het
Slc43a3 T C 2: 84,956,310 (GRCm38) V445A probably benign Het
Sptbn2 A G 19: 4,718,908 (GRCm38) N23S possibly damaging Het
Taf5l A G 8: 124,008,218 (GRCm38) F74L probably benign Het
Trappc11 G C 8: 47,530,731 (GRCm38) A42G possibly damaging Het
Trim30d T C 7: 104,472,488 (GRCm38) K350R probably damaging Het
Trnt1 T C 6: 106,773,414 (GRCm38) F93S probably damaging Het
Ube2c T C 2: 164,777,190 (GRCm38) V161A probably benign Het
Usp24 A G 4: 106,362,357 (GRCm38) E555G possibly damaging Het
Vmn2r55 T G 7: 12,651,864 (GRCm38) S730R probably damaging Het
Vmn2r89 T A 14: 51,455,113 (GRCm38) N124K probably benign Het
Vmn2r98 T A 17: 19,069,754 (GRCm38) C517* probably null Het
Vps13a A T 19: 16,641,667 (GRCm38) I2845N probably damaging Het
Vps51 T G 19: 6,071,033 (GRCm38) E283D probably benign Het
Xpo5 T C 17: 46,236,922 (GRCm38) V896A probably benign Het
Zfp2 T C 11: 50,901,241 (GRCm38) probably benign Het
Zgrf1 G A 3: 127,600,980 (GRCm38) M1328I probably benign Het
Zswim5 A G 4: 116,979,577 (GRCm38) D686G possibly damaging Het
Other mutations in Aff1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Aff1 APN 5 103,784,077 (GRCm38) missense probably damaging 1.00
IGL02060:Aff1 APN 5 103,783,849 (GRCm38) missense possibly damaging 0.51
IGL02081:Aff1 APN 5 103,834,305 (GRCm38) missense probably damaging 1.00
IGL02108:Aff1 APN 5 103,811,109 (GRCm38) critical splice donor site probably null
IGL03056:Aff1 APN 5 103,811,081 (GRCm38) missense probably damaging 0.99
IGL03332:Aff1 APN 5 103,841,105 (GRCm38) nonsense probably null
IGL03340:Aff1 APN 5 103,783,804 (GRCm38) missense possibly damaging 0.76
IGL03382:Aff1 APN 5 103,841,060 (GRCm38) missense possibly damaging 0.86
PIT4495001:Aff1 UTSW 5 103,849,525 (GRCm38) missense probably benign 0.16
R0013:Aff1 UTSW 5 103,828,484 (GRCm38) nonsense probably null
R0219:Aff1 UTSW 5 103,811,040 (GRCm38) splice site probably benign
R0520:Aff1 UTSW 5 103,847,751 (GRCm38) nonsense probably null
R0607:Aff1 UTSW 5 103,828,454 (GRCm38) missense probably damaging 1.00
R0883:Aff1 UTSW 5 103,826,138 (GRCm38) splice site probably benign
R1662:Aff1 UTSW 5 103,841,057 (GRCm38) missense probably damaging 0.99
R1730:Aff1 UTSW 5 103,833,512 (GRCm38) missense probably damaging 1.00
R1850:Aff1 UTSW 5 103,833,907 (GRCm38) missense probably damaging 1.00
R3411:Aff1 UTSW 5 103,754,706 (GRCm38) start codon destroyed probably null 0.53
R4007:Aff1 UTSW 5 103,784,222 (GRCm38) missense probably benign 0.15
R4207:Aff1 UTSW 5 103,818,988 (GRCm38) critical splice donor site probably null
R4702:Aff1 UTSW 5 103,811,069 (GRCm38) missense probably damaging 1.00
R4730:Aff1 UTSW 5 103,843,073 (GRCm38) missense possibly damaging 0.95
R4784:Aff1 UTSW 5 103,847,039 (GRCm38) nonsense probably null
R5166:Aff1 UTSW 5 103,754,657 (GRCm38) start gained probably benign
R5435:Aff1 UTSW 5 103,754,332 (GRCm38) unclassified probably benign
R5436:Aff1 UTSW 5 103,783,870 (GRCm38) missense probably damaging 1.00
R6065:Aff1 UTSW 5 103,842,252 (GRCm38) missense probably damaging 1.00
R6114:Aff1 UTSW 5 103,842,297 (GRCm38) missense probably damaging 0.97
R6298:Aff1 UTSW 5 103,754,720 (GRCm38) missense possibly damaging 0.68
R7095:Aff1 UTSW 5 103,843,085 (GRCm38) missense probably damaging 0.97
R7261:Aff1 UTSW 5 103,828,379 (GRCm38) missense probably damaging 0.97
R7350:Aff1 UTSW 5 103,847,092 (GRCm38) missense probably benign 0.28
R7423:Aff1 UTSW 5 103,847,101 (GRCm38) missense probably damaging 1.00
R7469:Aff1 UTSW 5 103,833,547 (GRCm38) missense probably benign 0.00
R7604:Aff1 UTSW 5 103,847,809 (GRCm38) missense probably benign 0.09
R7607:Aff1 UTSW 5 103,849,459 (GRCm38) missense possibly damaging 0.72
R8014:Aff1 UTSW 5 103,833,869 (GRCm38) missense possibly damaging 0.82
R8219:Aff1 UTSW 5 103,846,333 (GRCm38) missense probably damaging 1.00
R8315:Aff1 UTSW 5 103,811,090 (GRCm38) missense probably damaging 0.99
R8837:Aff1 UTSW 5 103,834,212 (GRCm38) missense possibly damaging 0.77
R8957:Aff1 UTSW 5 103,833,768 (GRCm38) missense possibly damaging 0.82
R9159:Aff1 UTSW 5 103,842,265 (GRCm38) missense possibly damaging 0.89
R9377:Aff1 UTSW 5 103,833,819 (GRCm38) missense probably damaging 0.96
R9381:Aff1 UTSW 5 103,833,867 (GRCm38) missense possibly damaging 0.85
R9705:Aff1 UTSW 5 103,784,410 (GRCm38) missense possibly damaging 0.88
R9725:Aff1 UTSW 5 103,847,065 (GRCm38) missense probably damaging 0.99
R9764:Aff1 UTSW 5 103,849,499 (GRCm38) missense probably damaging 1.00
Z1177:Aff1 UTSW 5 103,783,753 (GRCm38) missense possibly damaging 0.71
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-07-22