Incidental Mutation 'R8219:Aff1'
ID 636543
Institutional Source Beutler Lab
Gene Symbol Aff1
Ensembl Gene ENSMUSG00000029313
Gene Name AF4/FMR2 family, member 1
Synonyms Mllt2h, 9630032B01Rik, Af4, Rob
MMRRC Submission 067659-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R8219 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 103840307-104003188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103994199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 1022 (Y1022N)
Ref Sequence ENSEMBL: ENSMUSP00000059744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031256] [ENSMUST00000054979] [ENSMUST00000153165]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031256
AA Change: Y1030N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313
AA Change: Y1030N

DomainStartEndE-ValueType
Pfam:AF-4 16 1223 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000054979
AA Change: Y1022N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059744
Gene: ENSMUSG00000029313
AA Change: Y1022N

DomainStartEndE-ValueType
Pfam:AF-4 8 1216 N/A PFAM
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: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.7%
Validation Efficiency 100% (62/62)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A T 11: 50,833,363 (GRCm39) S80T unknown Het
Acnat1 T A 4: 49,447,748 (GRCm39) I278F probably benign Het
Adgrf5 A T 17: 43,760,750 (GRCm39) Q815L probably benign Het
Ahi1 A G 10: 20,950,335 (GRCm39) K1034E probably benign Het
Ano8 A T 8: 71,933,357 (GRCm39) L645Q unknown Het
Atg9b A G 5: 24,591,330 (GRCm39) L756P probably damaging Het
Atp2b2 A T 6: 113,770,811 (GRCm39) I411N probably damaging Het
Bmp6 T A 13: 38,529,963 (GRCm39) C19S unknown Het
Borcs5 A G 6: 134,621,313 (GRCm39) H27R probably benign Het
Cachd1 C A 4: 100,848,159 (GRCm39) D1091E probably benign Het
Ccdc186 T A 19: 56,781,777 (GRCm39) M801L probably benign Het
Clcn3 A T 8: 61,376,000 (GRCm39) M658K probably damaging Het
Col1a1 C T 11: 94,834,184 (GRCm39) R500C probably damaging Het
Cul4a T A 8: 13,196,540 (GRCm39) D731E possibly damaging Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
E2f7 T A 10: 110,595,704 (GRCm39) V133E probably damaging Het
Fam161b T C 12: 84,393,648 (GRCm39) E575G probably benign Het
Fubp1 T A 3: 151,926,103 (GRCm39) V275D probably damaging Het
Gabrg1 T A 5: 70,931,643 (GRCm39) R367* probably null Het
Gm6902 G A 7: 22,973,143 (GRCm39) A128V probably benign Het
Gnptab A G 10: 88,269,654 (GRCm39) T786A probably benign Het
Golga2 A G 2: 32,196,492 (GRCm39) N981D probably damaging Het
Gsap A T 5: 21,456,113 (GRCm39) I437L probably benign Het
Gulp1 A G 1: 44,793,501 (GRCm39) probably null Het
Kcnn1 T C 8: 71,305,499 (GRCm39) Y237C probably damaging Het
Klhl28 A T 12: 64,998,431 (GRCm39) N354K probably benign Het
Lama3 T C 18: 12,572,417 (GRCm39) Y541H probably benign Het
Lamc1 A G 1: 153,123,073 (GRCm39) Y706H probably damaging Het
Lima1 G T 15: 99,678,671 (GRCm39) T590K probably damaging Het
Lrrc38 G A 4: 143,077,303 (GRCm39) G189R probably damaging Het
Mrgprb8 G A 7: 48,038,649 (GRCm39) V107M possibly damaging Het
Mrpl3 T A 9: 104,934,271 (GRCm39) N139K possibly damaging Het
Nhsl3 T A 4: 129,141,946 (GRCm39) D65V possibly damaging Het
Nudt16 T A 9: 105,007,636 (GRCm39) N161I probably damaging Het
Obscn G A 11: 59,013,574 (GRCm39) S1091L probably benign Het
Oog4 T C 4: 143,166,508 (GRCm39) M99V probably benign Het
Or5b105 A C 19: 13,080,284 (GRCm39) L122R probably damaging Het
Or8c16 A C 9: 38,130,668 (GRCm39) D183A probably damaging Het
Osbpl6 A T 2: 76,386,247 (GRCm39) D303V probably damaging Het
Pcdhb21 T C 18: 37,647,708 (GRCm39) F279S probably damaging Het
Peg3 G A 7: 6,711,364 (GRCm39) T1286I probably benign Het
Phax A G 18: 56,708,754 (GRCm39) N106S probably damaging Het
Pkdrej A G 15: 85,705,493 (GRCm39) Y148H probably damaging Het
Pramel20 T G 4: 143,298,530 (GRCm39) Y158D probably benign Het
Ptprn2 C A 12: 117,148,357 (GRCm39) Q706K probably benign Het
Rdh11 T G 12: 79,235,880 (GRCm39) K23Q probably benign Het
Rit2 T A 18: 31,108,547 (GRCm39) E146V probably damaging Het
Rnf141 T C 7: 110,436,472 (GRCm39) probably benign Het
Sars1 T A 3: 108,352,378 (GRCm39) E24V probably benign Het
Sh3tc2 A G 18: 62,144,932 (GRCm39) I1129V probably benign Het
Slc10a5 G T 3: 10,400,384 (GRCm39) P92Q probably benign Het
Slc24a5 A T 2: 124,927,575 (GRCm39) probably null Het
Slc5a8 A G 10: 88,757,561 (GRCm39) Y517C probably damaging Het
Slc6a5 A G 7: 49,561,911 (GRCm39) M148V probably benign Het
Sorl1 T C 9: 41,952,857 (GRCm39) probably null Het
Tgm4 A T 9: 122,874,117 (GRCm39) Y119F probably benign Het
Tgm6 A G 2: 129,993,200 (GRCm39) K562R probably benign Het
Tlr3 T C 8: 45,851,016 (GRCm39) E627G possibly damaging Het
Tmprss11f A G 5: 86,677,878 (GRCm39) L297P probably damaging Het
Tpbgl T C 7: 99,274,978 (GRCm39) H293R probably benign Het
Trank1 A C 9: 111,193,977 (GRCm39) K667T probably damaging Het
Trpm1 A T 7: 63,851,699 (GRCm39) Q139L probably benign Het
Ttf2 T G 3: 100,869,879 (GRCm39) K398T possibly damaging Het
Xpa A T 4: 46,183,150 (GRCm39) M213K probably benign Het
Zmym2 T A 14: 57,163,316 (GRCm39) S623T 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
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
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
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'- TTCTAATCAGGTGAAGACGGTGG -3'
(R):5'- GTGCTCCCTCATATGCAACAC -3'

Sequencing Primer
(F):5'- CGGTGGAGAAGTTACAGGGTTG -3'
(R):5'- TAACTGTGAAAAACCTGTGGACC -3'
Posted On 2020-07-13