Incidental Mutation 'R5001:Aff4'
ID 478086
Institutional Source Beutler Lab
Gene Symbol Aff4
Ensembl Gene ENSMUSG00000049470
Gene Name AF4/FMR2 family, member 4
Synonyms Laf4l, Alf4
MMRRC Submission 042595-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5001 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 53241660-53312657 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53295184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 795 (S795P)
Ref Sequence ENSEMBL: ENSMUSP00000051479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060945]
AlphaFold Q9ESC8
Predicted Effect probably damaging
Transcript: ENSMUST00000060945
AA Change: S795P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: S795P

DomainStartEndE-ValueType
Pfam:AF-4 2 1156 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195888
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 G A 12: 4,248,434 (GRCm39) V499M possibly damaging Het
Ank G A 15: 27,562,819 (GRCm39) V176I probably damaging Het
Ankfn1 A G 11: 89,332,268 (GRCm39) I446T possibly damaging Het
Arhgap33 C A 7: 30,232,441 (GRCm39) S32I possibly damaging Het
Ascc3 T A 10: 50,699,744 (GRCm39) Y1856N probably damaging Het
Atf3 T C 1: 190,909,472 (GRCm39) T66A probably benign Het
Atf7ip T C 6: 136,538,386 (GRCm39) C548R probably damaging Het
Bag6 A G 17: 35,364,152 (GRCm39) T841A probably damaging Het
Bbof1 A T 12: 84,473,630 (GRCm39) Q320L possibly damaging Het
Bmp2k A T 5: 97,201,001 (GRCm39) Q307L probably damaging Het
Btaf1 T A 19: 36,964,052 (GRCm39) N874K possibly damaging Het
Calr4 G A 4: 109,096,179 (GRCm39) probably null Het
Camk1d T C 2: 5,317,912 (GRCm39) I248V possibly damaging Het
Ccdc177 G A 12: 80,804,160 (GRCm39) R705C unknown Het
Cdk18 C T 1: 132,046,587 (GRCm39) probably null Het
Cers4 A G 8: 4,565,565 (GRCm39) S4G probably benign Het
Cfap54 A G 10: 92,800,396 (GRCm39) V1604A probably benign Het
Chd8 C T 14: 52,441,372 (GRCm39) G907S probably benign Het
Cilk1 T C 9: 78,038,801 (GRCm39) S17P probably damaging Het
Cnksr3 G A 10: 7,076,746 (GRCm39) Q149* probably null Het
Cntd1 T C 11: 101,176,557 (GRCm39) V218A possibly damaging Het
Cog7 A T 7: 121,549,109 (GRCm39) V384E probably damaging Het
Col5a2 A G 1: 45,542,058 (GRCm39) V6A unknown Het
Col7a1 T C 9: 108,794,146 (GRCm39) probably null Het
Cpsf6 T A 10: 117,203,866 (GRCm39) I29L possibly damaging Het
Cyp3a13 T C 5: 137,897,178 (GRCm39) T379A probably benign Het
Ddx46 T C 13: 55,800,732 (GRCm39) S296P probably damaging Het
Dmbt1 A G 7: 130,651,742 (GRCm39) D328G probably damaging Het
Dnah8 T G 17: 31,006,159 (GRCm39) L3692W probably damaging Het
Dnmt3l A C 10: 77,895,565 (GRCm39) S368R probably null Het
Egfr A G 11: 16,854,434 (GRCm39) K869E probably damaging Het
Ehd1 G A 19: 6,347,724 (GRCm39) M359I probably benign Het
F5 A T 1: 164,023,139 (GRCm39) T1566S probably benign Het
Flrt2 T C 12: 95,745,725 (GRCm39) I21T probably benign Het
Galnt1 T A 18: 24,404,812 (GRCm39) I383K probably benign Het
Ghdc G T 11: 100,657,660 (GRCm39) A523D probably damaging Het
Gm24022 A G 12: 113,393,399 (GRCm39) probably benign Het
Golga3 T C 5: 110,353,643 (GRCm39) S934P probably damaging Het
Gpr135 T A 12: 72,117,282 (GRCm39) T162S probably benign Het
Gucd1 G A 10: 75,353,036 (GRCm39) probably null Het
Hcrtr2 T A 9: 76,137,886 (GRCm39) I410F probably benign Het
Igkv6-15 T C 6: 70,383,633 (GRCm39) Y56C probably damaging Het
Il22ra1 A T 4: 135,460,415 (GRCm39) Y57F probably damaging Het
Irak4 A G 15: 94,456,154 (GRCm39) E247G possibly damaging Het
Kank3 T C 17: 34,040,746 (GRCm39) V13A possibly damaging Het
Klhl1 A T 14: 96,374,046 (GRCm39) S667T probably damaging Het
Klhl6 T G 16: 19,765,741 (GRCm39) *620C probably null Het
Lct A G 1: 128,235,978 (GRCm39) L343P probably damaging Het
Lgr6 G T 1: 134,918,370 (GRCm39) P264T probably benign Het
Lilrb4a T A 10: 51,367,516 (GRCm39) probably null Het
Lin7a G T 10: 107,218,530 (GRCm39) G25* probably null Het
Lmnb2 G A 10: 80,753,946 (GRCm39) T36M probably damaging Het
Manba T C 3: 135,273,391 (GRCm39) F775S probably benign Het
Marchf6 A G 15: 31,465,468 (GRCm39) V812A probably damaging Het
Megf6 T A 4: 154,352,517 (GRCm39) L1292H probably damaging Het
Myo18b T G 5: 112,909,206 (GRCm39) Q1979P probably damaging Het
Myoz1 T C 14: 20,703,769 (GRCm39) M59V probably damaging Het
Naa35 T C 13: 59,773,345 (GRCm39) I100T possibly damaging Het
Nox4 A T 7: 87,010,011 (GRCm39) Y404F probably damaging Het
Ntn1 T C 11: 68,151,358 (GRCm39) Y441C probably damaging Het
Onecut3 A G 10: 80,331,154 (GRCm39) T105A unknown Het
Or10ak8 C A 4: 118,774,440 (GRCm39) V75F probably damaging Het
Or1n1 T C 2: 36,750,082 (GRCm39) T93A probably benign Het
Or4d5 G A 9: 40,012,523 (GRCm39) H88Y probably benign Het
Pabpc1l A G 2: 163,884,438 (GRCm39) S392G probably benign Het
Pan3 T A 5: 147,463,492 (GRCm39) probably null Het
Pcdha4 G A 18: 37,088,001 (GRCm39) S728N probably benign Het
Pds5a T C 5: 65,854,128 (GRCm39) D38G probably damaging Het
Pgm2l1 A G 7: 99,921,583 (GRCm39) I605V probably benign Het
Phip T C 9: 82,778,072 (GRCm39) probably null Het
Pilra T C 5: 137,833,777 (GRCm39) I96M probably damaging Het
Ppig T A 2: 69,571,830 (GRCm39) V183D unknown Het
Ppp2r2a A T 14: 67,259,757 (GRCm39) L313* probably null Het
Ppp4c A G 7: 126,386,709 (GRCm39) F126S probably damaging Het
Ptger2 C A 14: 45,226,824 (GRCm39) R135S probably damaging Het
Rab11fip5 T A 6: 85,324,788 (GRCm39) E506D probably damaging Het
Rdh12 G A 12: 79,259,516 (GRCm39) G133R probably damaging Het
Rims2 A T 15: 39,315,824 (GRCm39) D610V probably benign Het
Saa1 T A 7: 46,390,132 (GRCm39) Y122F probably damaging Het
Septin10 A T 10: 59,012,811 (GRCm39) V269E probably damaging Het
Serpina3n T A 12: 104,374,998 (GRCm39) D23E probably benign Het
Serpinb11 A G 1: 107,304,598 (GRCm39) K188E possibly damaging Het
Slc18a3 C T 14: 32,185,736 (GRCm39) V216M possibly damaging Het
Slc19a3 G T 1: 83,000,341 (GRCm39) N225K probably benign Het
Slc4a1 T A 11: 102,242,329 (GRCm39) I797F probably benign Het
Slx9 A G 10: 77,325,850 (GRCm39) V154A probably benign Het
Spic A G 10: 88,511,761 (GRCm39) M165T possibly damaging Het
Timm44 A T 8: 4,325,886 (GRCm39) M1K probably null Het
Tmc6 A G 11: 117,661,610 (GRCm39) L572P probably benign Het
Tnc G A 4: 63,918,299 (GRCm39) T1204M probably benign Het
Tnc G A 4: 63,902,726 (GRCm39) T1517I probably damaging Het
Trip11 A T 12: 101,851,169 (GRCm39) L680* probably null Het
Trps1 T A 15: 50,524,703 (GRCm39) M887L possibly damaging Het
Tulp3 A C 6: 128,302,031 (GRCm39) V330G probably damaging Het
Upf1 A G 8: 70,787,350 (GRCm39) S835P probably damaging Het
Wdr64 A G 1: 175,620,525 (GRCm39) probably null Het
Yju2b G A 8: 84,985,304 (GRCm39) P322S probably benign Het
Zbtb40 A G 4: 136,723,461 (GRCm39) L643P probably damaging Het
Zc3h18 A T 8: 123,110,259 (GRCm39) D36V probably damaging Het
Other mutations in Aff4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Aff4 APN 11 53,302,817 (GRCm39) missense probably damaging 0.98
IGL01348:Aff4 APN 11 53,293,327 (GRCm39) missense probably benign
IGL01446:Aff4 APN 11 53,306,296 (GRCm39) missense probably damaging 0.99
IGL02151:Aff4 APN 11 53,290,633 (GRCm39) missense probably benign
IGL02526:Aff4 APN 11 53,297,509 (GRCm39) splice site probably benign
IGL02567:Aff4 APN 11 53,263,578 (GRCm39) missense possibly damaging 0.64
IGL02633:Aff4 APN 11 53,300,198 (GRCm39) splice site probably benign
IGL02707:Aff4 APN 11 53,290,567 (GRCm39) missense probably benign
R0090:Aff4 UTSW 11 53,283,609 (GRCm39) missense probably benign 0.01
R0128:Aff4 UTSW 11 53,306,293 (GRCm39) missense probably damaging 0.99
R0243:Aff4 UTSW 11 53,288,685 (GRCm39) missense possibly damaging 0.74
R0345:Aff4 UTSW 11 53,263,708 (GRCm39) missense probably benign 0.00
R0347:Aff4 UTSW 11 53,290,915 (GRCm39) missense probably benign 0.01
R0732:Aff4 UTSW 11 53,266,423 (GRCm39) missense probably benign
R0737:Aff4 UTSW 11 53,301,780 (GRCm39) nonsense probably null
R1464:Aff4 UTSW 11 53,263,351 (GRCm39) missense probably damaging 0.97
R1464:Aff4 UTSW 11 53,263,351 (GRCm39) missense probably damaging 0.97
R1500:Aff4 UTSW 11 53,263,205 (GRCm39) missense probably benign 0.00
R1693:Aff4 UTSW 11 53,287,380 (GRCm39) missense probably damaging 1.00
R1743:Aff4 UTSW 11 53,259,522 (GRCm39) missense possibly damaging 0.65
R1961:Aff4 UTSW 11 53,263,826 (GRCm39) missense probably damaging 1.00
R2048:Aff4 UTSW 11 53,289,212 (GRCm39) missense probably benign 0.39
R2138:Aff4 UTSW 11 53,263,339 (GRCm39) missense possibly damaging 0.94
R2155:Aff4 UTSW 11 53,290,446 (GRCm39) missense probably damaging 1.00
R2379:Aff4 UTSW 11 53,299,305 (GRCm39) splice site probably benign
R4156:Aff4 UTSW 11 53,301,726 (GRCm39) intron probably benign
R5281:Aff4 UTSW 11 53,263,115 (GRCm39) missense probably damaging 1.00
R5477:Aff4 UTSW 11 53,299,299 (GRCm39) critical splice donor site probably null
R5677:Aff4 UTSW 11 53,291,102 (GRCm39) missense possibly damaging 0.55
R5992:Aff4 UTSW 11 53,263,837 (GRCm39) missense probably damaging 0.99
R6576:Aff4 UTSW 11 53,291,268 (GRCm39) missense probably damaging 1.00
R6764:Aff4 UTSW 11 53,290,657 (GRCm39) missense probably damaging 1.00
R6988:Aff4 UTSW 11 53,289,064 (GRCm39) missense probably damaging 1.00
R7034:Aff4 UTSW 11 53,299,236 (GRCm39) missense probably damaging 0.99
R7177:Aff4 UTSW 11 53,297,466 (GRCm39) missense probably benign 0.10
R7426:Aff4 UTSW 11 53,263,702 (GRCm39) missense probably damaging 1.00
R7755:Aff4 UTSW 11 53,289,206 (GRCm39) missense probably damaging 0.97
R7848:Aff4 UTSW 11 53,295,339 (GRCm39) missense probably benign 0.05
R7968:Aff4 UTSW 11 53,300,175 (GRCm39) missense probably damaging 1.00
R8159:Aff4 UTSW 11 53,302,721 (GRCm39) missense possibly damaging 0.71
R8218:Aff4 UTSW 11 53,289,084 (GRCm39) missense probably damaging 0.98
R8241:Aff4 UTSW 11 53,290,998 (GRCm39) missense probably benign 0.00
R8284:Aff4 UTSW 11 53,295,379 (GRCm39) missense probably damaging 0.99
R8373:Aff4 UTSW 11 53,291,094 (GRCm39) nonsense probably null
R8695:Aff4 UTSW 11 53,259,509 (GRCm39) missense probably damaging 1.00
R8777:Aff4 UTSW 11 53,290,783 (GRCm39) missense probably damaging 1.00
R8777-TAIL:Aff4 UTSW 11 53,290,783 (GRCm39) missense probably damaging 1.00
R8780:Aff4 UTSW 11 53,271,444 (GRCm39) missense probably damaging 1.00
R8798:Aff4 UTSW 11 53,291,335 (GRCm39) critical splice donor site probably benign
R8838:Aff4 UTSW 11 53,297,465 (GRCm39) missense possibly damaging 0.77
R8939:Aff4 UTSW 11 53,263,231 (GRCm39) missense probably benign
R9146:Aff4 UTSW 11 53,298,963 (GRCm39) missense probably benign 0.06
R9329:Aff4 UTSW 11 53,288,686 (GRCm39) missense probably damaging 1.00
R9378:Aff4 UTSW 11 53,263,306 (GRCm39) missense probably damaging 0.98
R9471:Aff4 UTSW 11 53,271,473 (GRCm39) missense probably benign 0.13
R9779:Aff4 UTSW 11 53,263,734 (GRCm39) nonsense probably null
R9796:Aff4 UTSW 11 53,302,824 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CAACAGATGCCTACTTGATGGG -3'
(R):5'- ATACCTTGGCCTCCTTGGAG -3'

Sequencing Primer
(F):5'- CAGATGCCTACTTGATGGGATTTAC -3'
(R):5'- AGGAGGAGCTGCTCTTGC -3'
Posted On 2017-05-23