Incidental Mutation 'IGL03340:Aff1'
ID 417196
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aff1
Ensembl Gene ENSMUSG00000029313
Gene Name AF4/FMR2 family, member 1
Synonyms 9630032B01Rik, Af4, Rob, Mllt2h
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.381) question?
Stock # IGL03340
Quality Score
Status
Chromosome 5
Chromosomal Location 103692374-103855322 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103783804 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 104 (H104L)
Ref Sequence ENSEMBL: ENSMUSP00000119631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031256] [ENSMUST00000054979] [ENSMUST00000153165]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000031256
AA Change: H104L

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313
AA Change: H104L

DomainStartEndE-ValueType
Pfam:AF-4 16 1223 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000054979
AA Change: H96L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000059744
Gene: ENSMUSG00000029313
AA Change: H96L

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: H104L

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119631
Gene: ENSMUSG00000029313
AA Change: H104L

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,080,001 L26P probably benign Het
Apon T C 10: 128,254,978 I175T probably benign Het
C2cd6 A C 1: 59,076,671 F168V probably benign Het
Cgn C T 3: 94,778,095 probably benign Het
Cramp1l G A 17: 24,973,542 P956L probably damaging Het
Cyp2e1 G A 7: 140,764,854 V78M probably damaging Het
Cyp4b1 G A 4: 115,641,879 P97S probably damaging Het
Fads2 G T 19: 10,091,772 P96Q possibly damaging Het
Fam160a2 A G 7: 105,389,310 S241P probably damaging Het
Fcer2a T C 8: 3,688,310 D120G possibly damaging Het
Gm21972 G T 1: 86,133,728 A887S probably damaging Het
Grk6 A G 13: 55,453,190 D295G probably damaging Het
Herc2 T A 7: 56,090,920 V270D possibly damaging Het
Kcnk2 T A 1: 189,295,681 I126F possibly damaging Het
Kifap3 T G 1: 163,829,149 V346G possibly damaging Het
Kpna1 T A 16: 36,000,246 N20K probably damaging Het
Krt33b A G 11: 100,025,472 probably benign Het
Krtap9-5 T C 11: 99,948,601 C43R possibly damaging Het
Lars G A 18: 42,228,650 probably benign Het
Lifr T C 15: 7,177,936 W540R probably benign Het
Lrp1b A G 2: 41,468,969 S631P probably damaging Het
Mbd1 G T 18: 74,274,482 R111L probably benign Het
Meltf C T 16: 31,892,784 T576M probably damaging Het
Mmp20 G A 9: 7,643,994 G228S probably damaging Het
Mob4 A G 1: 55,136,708 D37G possibly damaging Het
Msr1 T C 8: 39,620,007 K234E possibly damaging Het
Myof A G 19: 37,911,159 V1764A probably damaging Het
Naaladl1 A G 19: 6,106,199 Y105C possibly damaging Het
Nisch A G 14: 31,173,144 V1065A probably damaging Het
Npas4 A T 19: 4,985,066 probably benign Het
Olfr1232 T C 2: 89,325,695 T162A possibly damaging Het
Pdss2 A G 10: 43,394,001 D280G probably benign Het
Plk3 A G 4: 117,132,928 I182T probably damaging Het
Ppm1k A G 6: 57,510,726 W371R probably damaging Het
Samm50 T C 15: 84,198,663 probably null Het
Scaper G T 9: 55,602,832 T640K possibly damaging Het
Sun3 A C 11: 9,023,285 probably benign Het
Svep1 T A 4: 58,111,451 K1056M possibly damaging Het
Tgs1 C A 4: 3,604,813 P745Q probably benign Het
Tomm20l A T 12: 71,117,614 probably benign Het
Usp38 A C 8: 81,012,276 L237V probably damaging Het
Vmn1r210 T C 13: 22,827,474 Y214C probably benign Het
Zan G A 5: 137,427,874 P2547S unknown Het
Other mutations in Aff1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Aff1 APN 5 103784077 missense probably damaging 1.00
IGL02060:Aff1 APN 5 103783849 missense possibly damaging 0.51
IGL02081:Aff1 APN 5 103834305 missense probably damaging 1.00
IGL02108:Aff1 APN 5 103811109 critical splice donor site probably null
IGL03056:Aff1 APN 5 103811081 missense probably damaging 0.99
IGL03332:Aff1 APN 5 103841105 nonsense probably null
IGL03382:Aff1 APN 5 103841060 missense possibly damaging 0.86
PIT4495001:Aff1 UTSW 5 103849525 missense probably benign 0.16
R0013:Aff1 UTSW 5 103828484 nonsense probably null
R0219:Aff1 UTSW 5 103811040 splice site probably benign
R0520:Aff1 UTSW 5 103847751 nonsense probably null
R0607:Aff1 UTSW 5 103828454 missense probably damaging 1.00
R0883:Aff1 UTSW 5 103826138 splice site probably benign
R1662:Aff1 UTSW 5 103841057 missense probably damaging 0.99
R1730:Aff1 UTSW 5 103833512 missense probably damaging 1.00
R1850:Aff1 UTSW 5 103833907 missense probably damaging 1.00
R3411:Aff1 UTSW 5 103754706 start codon destroyed probably null 0.53
R4007:Aff1 UTSW 5 103784222 missense probably benign 0.15
R4207:Aff1 UTSW 5 103818988 critical splice donor site probably null
R4702:Aff1 UTSW 5 103811069 missense probably damaging 1.00
R4730:Aff1 UTSW 5 103843073 missense possibly damaging 0.95
R4784:Aff1 UTSW 5 103847039 nonsense probably null
R5166:Aff1 UTSW 5 103754657 start gained probably benign
R5294:Aff1 UTSW 5 103811157 intron probably benign
R5435:Aff1 UTSW 5 103754332 unclassified probably benign
R5436:Aff1 UTSW 5 103783870 missense probably damaging 1.00
R6065:Aff1 UTSW 5 103842252 missense probably damaging 1.00
R6114:Aff1 UTSW 5 103842297 missense probably damaging 0.97
R6298:Aff1 UTSW 5 103754720 missense possibly damaging 0.68
R7095:Aff1 UTSW 5 103843085 missense probably damaging 0.97
R7261:Aff1 UTSW 5 103828379 missense probably damaging 0.97
R7350:Aff1 UTSW 5 103847092 missense probably benign 0.28
R7423:Aff1 UTSW 5 103847101 missense probably damaging 1.00
R7469:Aff1 UTSW 5 103833547 missense probably benign 0.00
R7604:Aff1 UTSW 5 103847809 missense probably benign 0.09
R7607:Aff1 UTSW 5 103849459 missense possibly damaging 0.72
R8014:Aff1 UTSW 5 103833869 missense possibly damaging 0.82
R8219:Aff1 UTSW 5 103846333 missense probably damaging 1.00
R8315:Aff1 UTSW 5 103811090 missense probably damaging 0.99
R8837:Aff1 UTSW 5 103834212 missense possibly damaging 0.77
R8957:Aff1 UTSW 5 103833768 missense possibly damaging 0.82
R9159:Aff1 UTSW 5 103842265 missense possibly damaging 0.89
R9377:Aff1 UTSW 5 103833819 missense probably damaging 0.96
R9381:Aff1 UTSW 5 103833867 missense possibly damaging 0.85
R9705:Aff1 UTSW 5 103784410 missense possibly damaging 0.88
R9725:Aff1 UTSW 5 103847065 missense probably damaging 0.99
R9764:Aff1 UTSW 5 103849499 missense probably damaging 1.00
Z1177:Aff1 UTSW 5 103783753 missense possibly damaging 0.71
Posted On 2016-08-02