Incidental Mutation 'R6764:Aff4'
ID 531827
Institutional Source Beutler Lab
Gene Symbol Aff4
Ensembl Gene ENSMUSG00000049470
Gene Name AF4/FMR2 family, member 4
Synonyms Laf4l, Alf4
MMRRC Submission 044880-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6764 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 53350833-53421830 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 53399830 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 539 (R539L)
Ref Sequence ENSEMBL: ENSMUSP00000051479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060945]
AlphaFold Q9ESC8
Predicted Effect probably damaging
Transcript: ENSMUST00000060945
AA Change: R539L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: R539L

DomainStartEndE-ValueType
Pfam:AF-4 2 1156 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152616
SMART Domains Protein: ENSMUSP00000118866
Gene: ENSMUSG00000049470

DomainStartEndE-ValueType
Pfam:AF-4 1 51 4e-15 PFAM
Pfam:AF-4 46 159 1.3e-30 PFAM
Meta Mutation Damage Score 0.1312 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (39/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice display embryonic and neonatal lethality with incomplete penetrance, abnormal respiration, and shrunken alveoli. Surviving males are infertile with azoospermia and arrest of spermatogenesis but, do not develop hematological abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020D05Rik A G 19: 5,502,872 (GRCm38) S294P probably damaging Het
Aox2 T A 1: 58,350,282 (GRCm38) Y1147N probably damaging Het
Arhgef25 A G 10: 127,184,101 (GRCm38) F423L probably damaging Het
Atp1a2 A T 1: 172,284,614 (GRCm38) D571E probably benign Het
Bank1 A G 3: 136,242,940 (GRCm38) S159P probably damaging Het
Bcan C A 3: 87,988,378 (GRCm38) R817L probably damaging Het
Cacna1g A G 11: 94,413,188 (GRCm38) S1990P possibly damaging Het
Ccna1 G A 3: 55,046,078 (GRCm38) T368M probably damaging Het
Chia1 T C 3: 106,130,740 (GRCm38) probably null Het
Ctbp1 T C 5: 33,259,245 (GRCm38) H136R possibly damaging Het
Dner T G 1: 84,494,781 (GRCm38) D366A probably damaging Het
Eif3d A T 15: 77,961,686 (GRCm38) D378E probably damaging Het
Evpl A G 11: 116,222,944 (GRCm38) S1307P probably damaging Het
Fgd5 T A 6: 91,989,421 (GRCm38) N720K probably damaging Het
Fmn1 A G 2: 113,525,215 (GRCm38) E667G unknown Het
Gm4846 A G 1: 166,491,552 (GRCm38) C206R probably benign Het
Grpel1 G A 5: 36,465,225 (GRCm38) R11H probably benign Het
Gsn A G 2: 35,284,044 (GRCm38) Y55C probably damaging Het
Hephl1 G A 9: 15,088,921 (GRCm38) T345I possibly damaging Het
Ints2 T A 11: 86,212,779 (GRCm38) K1150N probably benign Het
Itga4 C A 2: 79,325,614 (GRCm38) H975N probably benign Het
Musk T C 4: 58,354,027 (GRCm38) V360A probably damaging Het
Naalad2 A T 9: 18,402,889 (GRCm38) probably benign Het
Ninj2 G T 6: 120,198,050 (GRCm38) A51S probably benign Het
Pcdhac1 T C 18: 37,090,679 (GRCm38) Y182H probably damaging Het
Pitpnm3 A G 11: 72,051,233 (GRCm38) F916S probably damaging Het
Sfrp5 T A 19: 42,199,799 (GRCm38) M194L probably benign Het
Sigirr C T 7: 141,093,242 (GRCm38) V99I probably benign Het
Smco2 A G 6: 146,871,329 (GRCm38) D343G probably damaging Het
Snap91 A G 9: 86,792,181 (GRCm38) I584T probably benign Het
Syne1 G A 10: 5,229,011 (GRCm38) Q4488* probably null Het
Tbc1d24 A C 17: 24,185,780 (GRCm38) F130C possibly damaging Het
Trpm7 A G 2: 126,844,420 (GRCm38) V296A possibly damaging Het
Ttll11 T C 2: 35,890,448 (GRCm38) probably null Het
Vmn2r115 A G 17: 23,346,072 (GRCm38) D311G probably damaging Het
Vmn2r63 A G 7: 42,903,271 (GRCm38) S854P probably damaging Het
Zfp330 C T 8: 82,767,305 (GRCm38) C109Y probably damaging Het
Zfp534 C T 4: 147,674,718 (GRCm38) G498D probably benign Het
Zfp62 A G 11: 49,215,169 (GRCm38) D29G probably damaging Het
Other mutations in Aff4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Aff4 APN 11 53,411,990 (GRCm38) missense probably damaging 0.98
IGL01348:Aff4 APN 11 53,402,500 (GRCm38) missense probably benign
IGL01446:Aff4 APN 11 53,415,469 (GRCm38) missense probably damaging 0.99
IGL02151:Aff4 APN 11 53,399,806 (GRCm38) missense probably benign
IGL02526:Aff4 APN 11 53,406,682 (GRCm38) splice site probably benign
IGL02567:Aff4 APN 11 53,372,751 (GRCm38) missense possibly damaging 0.64
IGL02633:Aff4 APN 11 53,409,371 (GRCm38) splice site probably benign
IGL02707:Aff4 APN 11 53,399,740 (GRCm38) missense probably benign
R0090:Aff4 UTSW 11 53,392,782 (GRCm38) missense probably benign 0.01
R0128:Aff4 UTSW 11 53,415,466 (GRCm38) missense probably damaging 0.99
R0243:Aff4 UTSW 11 53,397,858 (GRCm38) missense possibly damaging 0.74
R0345:Aff4 UTSW 11 53,372,881 (GRCm38) missense probably benign 0.00
R0347:Aff4 UTSW 11 53,400,088 (GRCm38) missense probably benign 0.01
R0732:Aff4 UTSW 11 53,375,596 (GRCm38) missense probably benign
R0737:Aff4 UTSW 11 53,410,953 (GRCm38) nonsense probably null
R1464:Aff4 UTSW 11 53,372,524 (GRCm38) missense probably damaging 0.97
R1464:Aff4 UTSW 11 53,372,524 (GRCm38) missense probably damaging 0.97
R1500:Aff4 UTSW 11 53,372,378 (GRCm38) missense probably benign 0.00
R1693:Aff4 UTSW 11 53,396,553 (GRCm38) missense probably damaging 1.00
R1743:Aff4 UTSW 11 53,368,695 (GRCm38) missense possibly damaging 0.65
R1961:Aff4 UTSW 11 53,372,999 (GRCm38) missense probably damaging 1.00
R2048:Aff4 UTSW 11 53,398,385 (GRCm38) missense probably benign 0.39
R2138:Aff4 UTSW 11 53,372,512 (GRCm38) missense possibly damaging 0.94
R2155:Aff4 UTSW 11 53,399,619 (GRCm38) missense probably damaging 1.00
R2379:Aff4 UTSW 11 53,408,478 (GRCm38) splice site probably benign
R4156:Aff4 UTSW 11 53,410,899 (GRCm38) intron probably benign
R5001:Aff4 UTSW 11 53,404,357 (GRCm38) missense probably damaging 1.00
R5281:Aff4 UTSW 11 53,372,288 (GRCm38) missense probably damaging 1.00
R5477:Aff4 UTSW 11 53,408,472 (GRCm38) critical splice donor site probably null
R5677:Aff4 UTSW 11 53,400,275 (GRCm38) missense possibly damaging 0.55
R5992:Aff4 UTSW 11 53,373,010 (GRCm38) missense probably damaging 0.99
R6576:Aff4 UTSW 11 53,400,441 (GRCm38) missense probably damaging 1.00
R6988:Aff4 UTSW 11 53,398,237 (GRCm38) missense probably damaging 1.00
R7034:Aff4 UTSW 11 53,408,409 (GRCm38) missense probably damaging 0.99
R7177:Aff4 UTSW 11 53,406,639 (GRCm38) missense probably benign 0.10
R7426:Aff4 UTSW 11 53,372,875 (GRCm38) missense probably damaging 1.00
R7755:Aff4 UTSW 11 53,398,379 (GRCm38) missense probably damaging 0.97
R7848:Aff4 UTSW 11 53,404,512 (GRCm38) missense probably benign 0.05
R7968:Aff4 UTSW 11 53,409,348 (GRCm38) missense probably damaging 1.00
R8159:Aff4 UTSW 11 53,411,894 (GRCm38) missense possibly damaging 0.71
R8218:Aff4 UTSW 11 53,398,257 (GRCm38) missense probably damaging 0.98
R8241:Aff4 UTSW 11 53,400,171 (GRCm38) missense probably benign 0.00
R8284:Aff4 UTSW 11 53,404,552 (GRCm38) missense probably damaging 0.99
R8373:Aff4 UTSW 11 53,400,267 (GRCm38) nonsense probably null
R8695:Aff4 UTSW 11 53,368,682 (GRCm38) missense probably damaging 1.00
R8777:Aff4 UTSW 11 53,399,956 (GRCm38) missense probably damaging 1.00
R8777-TAIL:Aff4 UTSW 11 53,399,956 (GRCm38) missense probably damaging 1.00
R8780:Aff4 UTSW 11 53,380,617 (GRCm38) missense probably damaging 1.00
R8798:Aff4 UTSW 11 53,400,508 (GRCm38) critical splice donor site probably benign
R8838:Aff4 UTSW 11 53,406,638 (GRCm38) missense possibly damaging 0.77
R8939:Aff4 UTSW 11 53,372,404 (GRCm38) missense probably benign
R9146:Aff4 UTSW 11 53,408,136 (GRCm38) missense probably benign 0.06
R9329:Aff4 UTSW 11 53,397,859 (GRCm38) missense probably damaging 1.00
R9378:Aff4 UTSW 11 53,372,479 (GRCm38) missense probably damaging 0.98
R9471:Aff4 UTSW 11 53,380,646 (GRCm38) missense probably benign 0.13
R9779:Aff4 UTSW 11 53,372,907 (GRCm38) nonsense probably null
R9796:Aff4 UTSW 11 53,411,997 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CAGCTTCCTCTGTAGACAGC -3'
(R):5'- GGTCGAGGAGAAGATTTTGATTCC -3'

Sequencing Primer
(F):5'- GCTTCCTCTGTAGACAGCAACATC -3'
(R):5'- ATGTTGGGTTTCCTCGAGCCC -3'
Posted On 2018-08-29