Incidental Mutation 'R4702:Aff1'
ID 356116
Institutional Source Beutler Lab
Gene Symbol Aff1
Ensembl Gene ENSMUSG00000029313
Gene Name AF4/FMR2 family, member 1
Synonyms Mllt2h, 9630032B01Rik, Af4, Rob
MMRRC Submission 041950-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R4702 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 103840307-104003188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103958935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 343 (Y343H)
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 benign
Transcript: ENSMUST00000031256
AA Change: Y343H

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313
AA Change: Y343H

DomainStartEndE-ValueType
Pfam:AF-4 16 1223 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000054979
AA Change: Y335H

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000059744
Gene: ENSMUSG00000029313
AA Change: Y335H

DomainStartEndE-ValueType
Pfam:AF-4 8 1216 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152145
Predicted Effect probably damaging
Transcript: ENSMUST00000153165
AA Change: Y343H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119631
Gene: ENSMUSG00000029313
AA Change: Y343H

DomainStartEndE-ValueType
Pfam:AF-4 16 871 N/A PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,314,509 (GRCm39) T390A probably benign Het
Adam25 G T 8: 41,207,163 (GRCm39) C143F probably damaging Het
Adra1a T C 14: 66,875,008 (GRCm39) probably benign Het
Antxr2 C T 5: 98,097,028 (GRCm39) probably null Het
Ap1m2 A G 9: 21,209,591 (GRCm39) F362L probably benign Het
Apobec4 A G 1: 152,632,001 (GRCm39) T10A probably benign Het
Armc3 A G 2: 19,314,792 (GRCm39) N822S probably damaging Het
Atr A C 9: 95,802,408 (GRCm39) T1767P possibly damaging Het
B4galnt1 G T 10: 127,003,394 (GRCm39) V172F possibly damaging Het
Bloc1s1 T A 10: 128,759,267 (GRCm39) Q13L probably damaging Het
Blvra A C 2: 126,933,982 (GRCm39) I125L probably benign Het
Caps2 T C 10: 112,044,252 (GRCm39) F484L probably damaging Het
Cep76 A T 18: 67,767,968 (GRCm39) I188K possibly damaging Het
Cidea T A 18: 67,500,498 (GRCm39) F187I probably benign Het
Cntn3 T A 6: 102,142,292 (GRCm39) N1025I probably benign Het
Cntnap3 A T 13: 64,926,676 (GRCm39) C565S probably benign Het
Cyp2d22 A C 15: 82,260,118 (GRCm39) L22R probably damaging Het
Cyp2d26 C T 15: 82,676,648 (GRCm39) probably benign Het
Cyp2j12 A T 4: 96,021,230 (GRCm39) probably null Het
Dnajb13 T C 7: 100,153,748 (GRCm39) N229S probably benign Het
Dpys A G 15: 39,656,798 (GRCm39) V423A possibly damaging Het
Eif4e1b A T 13: 54,935,138 (GRCm39) I222F probably damaging Het
Eif5b A T 1: 38,057,958 (GRCm39) N87Y unknown Het
Enam T A 5: 88,651,650 (GRCm39) L1053* probably null Het
Epha7 T A 4: 28,961,425 (GRCm39) L890Q probably damaging Het
Fancm T A 12: 65,168,826 (GRCm39) S1730T possibly damaging Het
Flrt3 A G 2: 140,503,575 (GRCm39) F18L probably benign Het
Git2 A G 5: 114,883,543 (GRCm39) S396P probably damaging Het
H2-M10.4 A G 17: 36,772,874 (GRCm39) I36T probably benign Het
Igfn1 G A 1: 135,894,947 (GRCm39) S1873L possibly damaging Het
Ints12 A T 3: 132,802,546 (GRCm39) D10V probably damaging Het
Kbtbd2 A G 6: 56,756,288 (GRCm39) S483P probably benign Het
Kcnv2 G C 19: 27,300,967 (GRCm39) A273P probably damaging Het
Klc3 T G 7: 19,129,756 (GRCm39) D371A probably damaging Het
Lama3 T A 18: 12,711,086 (GRCm39) L1567* probably null Het
Ldhal6b G T 17: 5,468,582 (GRCm39) H117Q probably damaging Het
Lrriq1 G T 10: 103,051,610 (GRCm39) Q381K possibly damaging Het
Mrps31 T A 8: 22,909,754 (GRCm39) L140Q probably damaging Het
Myo15b A G 11: 115,774,834 (GRCm39) T2119A probably benign Het
Nkx6-2 T C 7: 139,161,456 (GRCm39) D243G probably damaging Het
Or1ab2 T A 8: 72,864,044 (GRCm39) F211L probably damaging Het
Or8b3b A T 9: 38,584,776 (GRCm39) M1K probably null Het
Papln C T 12: 83,828,757 (GRCm39) T821I probably benign Het
Pitpnb T G 5: 111,519,218 (GRCm39) V166G probably benign Het
Pla2g15 T A 8: 106,889,691 (GRCm39) M321K probably benign Het
Plcxd3 C A 15: 4,405,269 (GRCm39) S25R probably benign Het
Ppargc1a T C 5: 51,653,038 (GRCm39) I175V possibly damaging Het
Ppp1r13b T A 12: 111,799,715 (GRCm39) Q687H probably benign Het
Prpf3 A G 3: 95,741,404 (GRCm39) V584A probably damaging Het
Psen2 A G 1: 180,055,289 (GRCm39) L399S probably damaging Het
Ptchd3 G A 11: 121,727,235 (GRCm39) V370I probably damaging Het
Rasa3 G T 8: 13,620,394 (GRCm39) D758E probably benign Het
Reck T C 4: 43,898,060 (GRCm39) C113R probably damaging Het
Resf1 A G 6: 149,230,901 (GRCm39) T1316A probably benign Het
Ric1 T A 19: 29,575,417 (GRCm39) F1009I possibly damaging Het
Rrp12 T C 19: 41,859,975 (GRCm39) N1035S probably damaging Het
Rtel1 T A 2: 180,993,962 (GRCm39) S849T probably benign Het
Scn10a A T 9: 119,462,857 (GRCm39) Y1060N possibly damaging Het
Selenov A G 7: 27,987,436 (GRCm39) L314P probably damaging Het
Selplg T C 5: 113,957,094 (GRCm39) D404G probably benign Het
Slc7a14 T A 3: 31,284,547 (GRCm39) Y263F probably damaging Het
Slco3a1 A G 7: 73,970,315 (GRCm39) S431P probably damaging Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Spopl A T 2: 23,405,309 (GRCm39) probably null Het
Stk10 A T 11: 32,505,172 (GRCm39) T69S probably benign Het
Tbxas1 T C 6: 39,060,791 (GRCm39) probably null Het
Tec G A 5: 72,941,074 (GRCm39) P161L possibly damaging Het
Tnip1 A G 11: 54,815,228 (GRCm39) S339P probably benign Het
Tsen34 T A 7: 3,703,632 (GRCm39) V290D probably damaging Het
Tuba1a T A 15: 98,849,563 (GRCm39) I5F possibly damaging Het
Vmn1r31 C A 6: 58,448,953 (GRCm39) *304L probably null Het
Vmn1r63 T C 7: 5,806,516 (GRCm39) R39G possibly damaging Het
Xylt2 A G 11: 94,560,355 (GRCm39) Y307H possibly damaging Het
Zfp65 A G 13: 67,872,341 (GRCm39) M1T probably null Het
Zmym4 T C 4: 126,816,958 (GRCm39) I247V 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
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'- TGGTCACATTCAGATGGGTGC -3'
(R):5'- TCTCTGGGAAATGAGCACACTC -3'

Sequencing Primer
(F):5'- TCTTCCCCAAGATGAAGTCGGTG -3'
(R):5'- TCCCCAGTCTTTATGGAAAAGCAG -3'
Posted On 2015-10-21