Incidental Mutation 'IGL03056:Aff1'
ID 409219
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aff1
Ensembl Gene ENSMUSG00000029313
Gene Name AF4/FMR2 family, member 1
Synonyms Mllt2h, 9630032B01Rik, Af4, Rob
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # IGL03056
Quality Score
Status
Chromosome 5
Chromosomal Location 103840307-104003188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 103958947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 339 (V339I)
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 benign
Transcript: ENSMUST00000031256
AA Change: V347I

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313
AA Change: V347I

DomainStartEndE-ValueType
Pfam:AF-4 16 1223 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000054979
AA Change: V339I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000059744
Gene: ENSMUSG00000029313
AA Change: V339I

DomainStartEndE-ValueType
Pfam:AF-4 8 1216 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152145
Predicted Effect possibly damaging
Transcript: ENSMUST00000153165
AA Change: V347I

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119631
Gene: ENSMUSG00000029313
AA Change: V347I

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,647,862 (GRCm39) H1118R probably damaging Het
Ank1 G T 8: 23,631,195 (GRCm39) V107F probably damaging Het
Aox3 T C 1: 58,198,180 (GRCm39) probably null Het
Cd160 T C 3: 96,713,127 (GRCm39) T46A probably benign Het
Cimip2a T A 2: 25,111,367 (GRCm39) M232K possibly damaging Het
Col20a1 A T 2: 180,636,682 (GRCm39) Y221F probably damaging Het
Ddx18 C T 1: 121,492,264 (GRCm39) A148T probably benign Het
Dennd5b A G 6: 148,956,570 (GRCm39) M307T probably damaging Het
Fam216b G A 14: 78,320,223 (GRCm39) H86Y probably benign Het
Fh1 A T 1: 175,433,728 (GRCm39) C374S probably damaging Het
Fkbp14 A G 6: 54,556,529 (GRCm39) V207A probably benign Het
Gucy1a1 T C 3: 82,020,594 (GRCm39) K101R probably benign Het
Kcnk2 G T 1: 189,027,908 (GRCm39) Q116K possibly damaging Het
Kdm5b C A 1: 134,515,717 (GRCm39) Q114K probably damaging Het
Kif12 C T 4: 63,085,193 (GRCm39) R516Q probably null Het
Lca5l C T 16: 95,962,551 (GRCm39) C463Y probably benign Het
Lgsn T A 1: 31,242,705 (GRCm39) Y262* probably null Het
Lig4 A G 8: 10,022,580 (GRCm39) I400T possibly damaging Het
Mink1 T A 11: 70,503,409 (GRCm39) probably null Het
Mprip T A 11: 59,662,518 (GRCm39) I2243N probably damaging Het
Myo1f A T 17: 33,804,574 (GRCm39) Y426F probably damaging Het
Naip2 T A 13: 100,298,795 (GRCm39) S414C possibly damaging Het
Nrg1 T C 8: 32,311,451 (GRCm39) I363V possibly damaging Het
Or4f54 A T 2: 111,123,517 (GRCm39) R301S possibly damaging Het
Or52r1b A T 7: 102,690,958 (GRCm39) I86L possibly damaging Het
Serpinb9d T C 13: 33,386,736 (GRCm39) V268A probably damaging Het
Slc15a1 A G 14: 121,728,695 (GRCm39) F17L possibly damaging Het
Slc9a3 T A 13: 74,298,938 (GRCm39) V119E probably damaging Het
Sspo T A 6: 48,447,472 (GRCm39) M2346K probably benign Het
Tcf4 G T 18: 69,784,283 (GRCm39) probably benign Het
Trabd2b T C 4: 114,266,535 (GRCm39) V183A probably damaging Het
Ust T C 10: 8,083,326 (GRCm39) H350R probably benign Het
Zfp952 T A 17: 33,221,740 (GRCm39) V35E probably damaging 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
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
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
Posted On 2016-08-02