Incidental Mutation 'R3411:Aff1'
ID 332766
Institutional Source Beutler Lab
Gene Symbol Aff1
Ensembl Gene ENSMUSG00000029313
Gene Name AF4/FMR2 family, member 1
Synonyms Mllt2h, 9630032B01Rik, Af4, Rob
MMRRC Submission 040629-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R3411 (G1)
Quality Score 31
Status Validated
Chromosome 5
Chromosomal Location 103840307-104003188 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 103902572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
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: M1K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313
AA Change: M1K

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

DomainStartEndE-ValueType
Pfam:AF-4 8 1216 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126335
Predicted Effect probably null
Transcript: ENSMUST00000153165
AA Change: M1K

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119631
Gene: ENSMUSG00000029313
AA Change: M1K

DomainStartEndE-ValueType
Pfam:AF-4 16 871 N/A PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.6%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 A T 12: 81,466,596 (GRCm39) V675D possibly damaging Het
Adamts16 T C 13: 70,901,345 (GRCm39) T911A probably benign Het
Adgra1 T C 7: 139,427,619 (GRCm39) F62S possibly damaging Het
Adgra3 A G 5: 50,159,272 (GRCm39) V326A probably damaging Het
AI429214 C T 8: 37,461,071 (GRCm39) S73L probably benign Het
Apc C A 18: 34,402,312 (GRCm39) probably benign Het
Apcs T C 1: 172,722,130 (GRCm39) Y72C probably damaging Het
Arid4a T C 12: 71,108,299 (GRCm39) probably benign Het
Armcx4 C A X: 133,591,774 (GRCm39) Q561K probably benign Het
Atp5po C T 16: 91,725,794 (GRCm39) R64H probably damaging Het
Bank1 G A 3: 135,953,534 (GRCm39) probably benign Het
Ccdc150 A G 1: 54,395,932 (GRCm39) D805G probably benign Het
Ccdc88a T A 11: 29,436,006 (GRCm39) C10S probably damaging Het
Dnah1 A T 14: 30,991,774 (GRCm39) M3076K possibly damaging Het
Dnpep A G 1: 75,293,270 (GRCm39) V33A probably damaging Het
Egfem1 C T 3: 29,637,170 (GRCm39) T202I probably damaging Het
Fam120b T A 17: 15,651,897 (GRCm39) probably benign Het
Frem1 T C 4: 82,881,416 (GRCm39) T1263A possibly damaging Het
Gm6802 C A 12: 19,540,621 (GRCm39) noncoding transcript Het
Golga2 C A 2: 32,192,954 (GRCm39) A424E probably damaging Het
Gpat2 G A 2: 127,270,211 (GRCm39) V75M probably damaging Het
Grik5 T C 7: 24,762,397 (GRCm39) D198G probably benign Het
Hcrtr2 A G 9: 76,140,290 (GRCm39) F333L probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Htr1b A C 9: 81,514,094 (GRCm39) V171G probably benign Het
Kalrn G T 16: 34,032,642 (GRCm39) D1117E probably benign Het
Kcp T C 6: 29,482,845 (GRCm39) N1408S possibly damaging Het
Klhl7 G T 5: 24,343,319 (GRCm39) V212L probably damaging Het
Klra17 T A 6: 129,851,809 (GRCm39) N21I probably damaging Het
Lrrc8d A T 5: 105,974,572 (GRCm39) noncoding transcript Het
Mast2 C G 4: 116,168,107 (GRCm39) E881Q possibly damaging Het
Mcm6 T C 1: 128,279,322 (GRCm39) T155A probably benign Het
Mslnl T C 17: 25,963,491 (GRCm39) F326L probably benign Het
Nlrp4c A G 7: 6,095,569 (GRCm39) K816E possibly damaging Het
Or10g1 T A 14: 52,647,818 (GRCm39) R170S possibly damaging Het
Or5b101 G C 19: 13,005,411 (GRCm39) A94G probably benign Het
Or5p69 A T 7: 107,967,551 (GRCm39) I285F possibly damaging Het
Or8k3 T C 2: 86,058,986 (GRCm39) S110G probably benign Het
Otoa A G 7: 120,721,266 (GRCm39) Q427R probably damaging Het
Pcdhb6 A G 18: 37,468,945 (GRCm39) E622G probably damaging Het
Pdzd8 A G 19: 59,333,845 (GRCm39) Y59H probably damaging Het
Psmc3 A C 2: 90,886,263 (GRCm39) D159A probably damaging Het
Ripk4 T C 16: 97,545,157 (GRCm39) T497A probably benign Het
Rpn2 C A 2: 157,132,572 (GRCm39) A108E possibly damaging Het
Serpina3n A G 12: 104,377,536 (GRCm39) E263G possibly damaging Het
Six4 A G 12: 73,159,657 (GRCm39) F101S probably damaging Het
Slc16a4 G A 3: 107,208,188 (GRCm39) E233K probably benign Het
Smu1 T C 4: 40,752,008 (GRCm39) T183A probably benign Het
Sptb T G 12: 76,657,589 (GRCm39) K1311Q possibly damaging Het
Styxl1 T C 5: 135,794,618 (GRCm39) Y83C probably damaging Het
Sypl2 C T 3: 108,124,045 (GRCm39) V166I possibly damaging Het
Tal2 A G 4: 53,785,843 (GRCm39) N8S probably damaging Het
Tenm4 T C 7: 96,501,737 (GRCm39) Y1314H probably damaging Het
Ttn A C 2: 76,772,749 (GRCm39) N2415K possibly damaging Het
Usp53 T C 3: 122,743,507 (GRCm39) probably null Het
Vmn2r65 T C 7: 84,595,896 (GRCm39) I263V 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
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'- AAGTGTGTGAACCGAGTGC -3'
(R):5'- AACTGCGGGTCATTAGCCAG -3'

Sequencing Primer
(F):5'- CCGCCCGGAAAGTTAAGG -3'
(R):5'- GGTCATTAGCCAGGCTCC -3'
Posted On 2015-08-17