Incidental Mutation 'R0520:Aff1'
ID 48452
Institutional Source Beutler Lab
Gene Symbol Aff1
Ensembl Gene ENSMUSG00000029313
Gene Name AF4/FMR2 family, member 1
Synonyms Mllt2h, 9630032B01Rik, Af4, Rob
MMRRC Submission 038713-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R0520 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 103840307-104003188 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 103995617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 1070 (R1070*)
Ref Sequence ENSEMBL: ENSMUSP00000059744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031256] [ENSMUST00000054979]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000031256
AA Change: R1078*
SMART Domains Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313
AA Change: R1078*

DomainStartEndE-ValueType
Pfam:AF-4 16 1223 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000054979
AA Change: R1070*
SMART Domains Protein: ENSMUSP00000059744
Gene: ENSMUSG00000029313
AA Change: R1070*

DomainStartEndE-ValueType
Pfam:AF-4 8 1216 N/A PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (72/72)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T C 14: 103,288,952 (GRCm39) I154T possibly damaging Het
Acr G T 15: 89,457,430 (GRCm39) C226F probably damaging Het
Aldh9a1 C T 1: 167,188,960 (GRCm39) probably benign Het
Apaf1 A T 10: 90,915,851 (GRCm39) H12Q probably damaging Het
Asic1 A T 15: 99,593,416 (GRCm39) I291F probably damaging Het
Aspm T A 1: 139,406,558 (GRCm39) M1815K possibly damaging Het
Asxl3 A T 18: 22,656,043 (GRCm39) D1351V probably damaging Het
Atg9a C T 1: 75,163,178 (GRCm39) W299* probably null Het
B3gntl1 C A 11: 121,514,314 (GRCm39) V313F possibly damaging Het
B4galnt4 T A 7: 140,647,286 (GRCm39) C345* probably null Het
Bicc1 A T 10: 70,793,020 (GRCm39) F211L probably damaging Het
Cachd1 T G 4: 100,754,900 (GRCm39) V117G probably damaging Het
Cdc16 G A 8: 13,810,569 (GRCm39) probably null Het
Cers6 C T 2: 68,935,435 (GRCm39) Q312* probably null Het
Csta2 A G 16: 36,073,461 (GRCm39) I16V probably benign Het
Dclre1c A G 2: 3,437,512 (GRCm39) H115R probably damaging Het
Ddx20 T C 3: 105,594,692 (GRCm39) T18A probably benign Het
Dhx57 A G 17: 80,565,604 (GRCm39) V816A possibly damaging Het
Dlgap1 C T 17: 70,823,989 (GRCm39) Q325* probably null Het
Dnaja1 A T 4: 40,728,072 (GRCm39) M178L probably benign Het
Ecd A T 14: 20,378,732 (GRCm39) S454T probably benign Het
Efcab6 G A 15: 83,834,247 (GRCm39) H454Y probably benign Het
Exo1 T A 1: 175,727,031 (GRCm39) D447E probably benign Het
F5 T G 1: 164,037,156 (GRCm39) I1965S probably benign Het
Fbn2 A G 18: 58,146,821 (GRCm39) C2692R probably damaging Het
Fggy T A 4: 95,489,340 (GRCm39) L152Q probably damaging Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Gm9871 A G 6: 101,778,540 (GRCm39) noncoding transcript Het
Gnai2 A T 9: 107,497,372 (GRCm39) D7E probably benign Het
Gon7 C T 12: 102,724,047 (GRCm39) probably benign Het
H2-K2 A T 17: 34,216,390 (GRCm39) V272E probably damaging Het
Hectd4 G T 5: 121,469,770 (GRCm39) R2555L possibly damaging Het
Hexb T C 13: 97,317,618 (GRCm39) R360G probably benign Het
Igsf9b C A 9: 27,234,546 (GRCm39) S470R probably benign Het
Inpp5d T C 1: 87,633,642 (GRCm39) probably benign Het
Inpp5k C A 11: 75,530,356 (GRCm39) Y265* probably null Het
Klhl33 T G 14: 51,129,140 (GRCm39) E436D probably damaging Het
Krt80 A G 15: 101,267,898 (GRCm39) L13P probably benign Het
Krtap19-2 C T 16: 88,670,749 (GRCm39) probably benign Het
Marchf10 T C 11: 105,280,708 (GRCm39) T526A probably benign Het
Mcrs1 A G 15: 99,146,336 (GRCm39) probably null Het
Msh2 G T 17: 88,024,972 (GRCm39) V617F possibly damaging Het
Nckap1 A C 2: 80,371,874 (GRCm39) probably benign Het
Nek4 T A 14: 30,681,263 (GRCm39) probably benign Het
Or7h8 G A 9: 20,123,791 (GRCm39) V49I probably benign Het
Or8b12b T C 9: 37,684,849 (GRCm39) V298A probably benign Het
Or8k22 G T 2: 86,163,475 (GRCm39) T75K probably damaging Het
Or9s14 T A 1: 92,536,471 (GRCm39) V304E probably damaging Het
Osgin1 A G 8: 120,169,247 (GRCm39) H48R probably damaging Het
Pam T A 1: 97,811,920 (GRCm39) T369S probably benign Het
Pclo C T 5: 14,763,844 (GRCm39) Q821* probably null Het
Plekhm1 T C 11: 103,285,770 (GRCm39) I222V probably benign Het
Ptprg T G 14: 12,199,783 (GRCm38) N65K possibly damaging Het
Pum2 T A 12: 8,771,710 (GRCm39) V351E probably damaging Het
Slc25a54 T A 3: 109,014,546 (GRCm39) probably benign Het
Smchd1 A T 17: 71,736,538 (GRCm39) D587E possibly damaging Het
Stap1 A G 5: 86,238,823 (GRCm39) M164V probably benign Het
Stat5a T C 11: 100,752,252 (GRCm39) V30A probably damaging Het
Stk36 T G 1: 74,641,365 (GRCm39) probably benign Het
Tiam1 G T 16: 89,614,839 (GRCm39) probably benign Het
Tmc5 T C 7: 118,265,799 (GRCm39) M553T probably damaging Het
Tmem14a T A 1: 21,299,636 (GRCm39) Y89N possibly damaging Het
Tpp2 A G 1: 44,029,690 (GRCm39) Y991C probably damaging Het
Ttc7 A G 17: 87,666,579 (GRCm39) K615E possibly damaging Het
Ubac2 C T 14: 122,231,754 (GRCm39) P227S probably damaging Het
Vit A C 17: 78,932,588 (GRCm39) K565T probably damaging Het
Vps13c T C 9: 67,853,133 (GRCm39) F2409L possibly damaging Het
Wdr64 A G 1: 175,553,958 (GRCm39) T173A probably damaging Het
Zfp759 T C 13: 67,285,419 (GRCm39) I60T probably benign Het
Zfp81 A G 17: 33,553,351 (GRCm39) S488P probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign 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
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
R5166:Aff1 UTSW 5 103,902,523 (GRCm39) start gained probably benign
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 PCR Primer
(F):5'- GAGATGCTTAAGGGGACTTGCTCAG -3'
(R):5'- TCTCAGAGGGACGGTGTAGCTAAC -3'

Sequencing Primer
(F):5'- GACTTGCTCAGCCAGAGG -3'
(R):5'- CAGATCTTGGGAAATCCATAGTCAC -3'
Posted On 2013-06-12