Incidental Mutation 'R9378:Aff4'
ID 709798
Institutional Source Beutler Lab
Gene Symbol Aff4
Ensembl Gene ENSMUSG00000049470
Gene Name AF4/FMR2 family, member 4
Synonyms Laf4l, Alf4
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9378 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 53350833-53421830 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 53372479 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 109 (T109S)
Ref Sequence ENSEMBL: ENSMUSP00000051479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060945] [ENSMUST00000153821]
AlphaFold Q9ESC8
Predicted Effect probably damaging
Transcript: ENSMUST00000060945
AA Change: T109S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: T109S

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
Predicted Effect probably damaging
Transcript: ENSMUST00000153821
AA Change: T109S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120613
Gene: ENSMUSG00000049470
AA Change: T109S

DomainStartEndE-ValueType
Pfam:AF-4 2 122 4.1e-60 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700007K13Rik TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,466,110 (GRCm38) probably benign Het
2210408I21Rik A G 13: 77,323,616 (GRCm38) K1047E possibly damaging Het
Abca14 A T 7: 120,207,968 (GRCm38) Y79F possibly damaging Het
Abca2 T A 2: 25,439,082 (GRCm38) M978K probably benign Het
Adamts3 A T 5: 89,700,410 (GRCm38) C684* probably null Het
Adnp2 T C 18: 80,129,422 (GRCm38) T591A probably benign Het
Agmo A G 12: 37,243,721 (GRCm38) I48V probably benign Het
Appl1 G A 14: 26,927,827 (GRCm38) R581* probably null Het
Armc9 A T 1: 86,262,044 (GRCm38) M714L probably benign Het
Atp6v0d2 T A 4: 19,922,377 (GRCm38) T41S probably benign Het
Bin1 A T 18: 32,419,868 (GRCm38) Q182L probably damaging Het
Bmp10 A G 6: 87,433,702 (GRCm38) D159G probably benign Het
Bsn G A 9: 108,107,655 (GRCm38) P295S possibly damaging Het
C130079G13Rik A G 3: 59,931,689 (GRCm38) T11A possibly damaging Het
Cbx6 A G 15: 79,828,405 (GRCm38) S274P probably damaging Het
Cdc20b A G 13: 113,056,097 (GRCm38) K108R probably benign Het
Ces1d T A 8: 93,186,096 (GRCm38) N238I probably damaging Het
Col7a1 C T 9: 108,958,640 (GRCm38) Q663* probably null Het
Cpsf3 T C 12: 21,308,038 (GRCm38) I517T possibly damaging Het
Cyp2a5 C A 7: 26,840,454 (GRCm38) T309N probably damaging Het
Cyp2d40 A G 15: 82,761,601 (GRCm38) F68L possibly damaging Het
Cyp7b1 A T 3: 18,096,673 (GRCm38) W301R probably damaging Het
Dnah6 T A 6: 73,212,530 (GRCm38) N45I probably benign Het
Dnah7a A T 1: 53,582,617 (GRCm38) H1116Q probably benign Het
Dntt A G 19: 41,038,917 (GRCm38) N141S probably benign Het
Fbxl13 T C 5: 21,585,203 (GRCm38) N281D probably damaging Het
Frem2 A T 3: 53,651,989 (GRCm38) L1699H probably damaging Het
Gabrr3 T C 16: 59,461,674 (GRCm38) V464A possibly damaging Het
Gdap1 T A 1: 17,157,129 (GRCm38) I160N probably damaging Het
Hnrnpll C A 17: 80,061,862 (GRCm38) R44L unknown Het
Hsp90ab1 T C 17: 45,570,754 (GRCm38) E187G probably damaging Het
Ighm T A 12: 113,422,590 (GRCm38) T47S Het
Itgb7 A C 15: 102,227,396 (GRCm38) probably null Het
Kif16b A T 2: 142,619,818 (GRCm38) C1293* probably null Het
Klf11 C T 12: 24,655,044 (GRCm38) R166C probably benign Het
Lca5l T A 16: 96,176,012 (GRCm38) Q198L probably damaging Het
Lnx2 A T 5: 147,024,370 (GRCm38) M584K probably benign Het
Lpp A T 16: 24,721,987 (GRCm38) M1L probably benign Het
Lrig3 A G 10: 125,997,084 (GRCm38) T276A probably damaging Het
Ltbp2 G A 12: 84,791,090 (GRCm38) P1192L probably benign Het
Megf8 A T 7: 25,340,415 (GRCm38) probably null Het
Myh1 A C 11: 67,202,433 (GRCm38) T117P probably damaging Het
Neb A C 2: 52,247,292 (GRCm38) V220G Het
Neb C A 2: 52,244,101 (GRCm38) R3290L possibly damaging Het
Nktr A T 9: 121,748,198 (GRCm38) K444I probably damaging Het
Nol11 A T 11: 107,173,679 (GRCm38) M483K probably benign Het
Npy1r C A 8: 66,704,209 (GRCm38) P94T probably damaging Het
Nsmaf T C 4: 6,440,940 (GRCm38) T37A probably benign Het
Olfr1137 C A 2: 87,711,079 (GRCm38) V276F possibly damaging Het
Olfr1224-ps1 T C 2: 89,157,055 (GRCm38) N40S probably damaging Het
Olfr131 G A 17: 38,082,165 (GRCm38) A271V possibly damaging Het
Olfr160 A G 9: 37,712,177 (GRCm38) I34T probably damaging Het
Olfr286 A G 15: 98,227,039 (GRCm38) L204P possibly damaging Het
Olfr624 A T 7: 103,670,182 (GRCm38) M283K probably damaging Het
Olfr884 G A 9: 38,047,479 (GRCm38) V86M possibly damaging Het
Palld C T 8: 61,516,657 (GRCm38) R1211H unknown Het
Pcdha3 A G 18: 36,947,231 (GRCm38) D342G probably damaging Het
Pclo G A 5: 14,765,863 (GRCm38) V1266I Het
Pcnx4 T C 12: 72,555,890 (GRCm38) Y309H probably damaging Het
Pde8a C T 7: 81,332,871 (GRCm38) T746I probably damaging Het
Pdzrn3 T G 6: 101,150,811 (GRCm38) K965Q probably damaging Het
Phldb1 G A 9: 44,704,128 (GRCm38) A225V probably benign Het
Plat A G 8: 22,775,583 (GRCm38) Y214C probably damaging Het
Plppr1 T A 4: 49,325,627 (GRCm38) C274* probably null Het
Poglut1 A G 16: 38,526,771 (GRCm38) F345L possibly damaging Het
Ppara A T 15: 85,777,636 (GRCm38) E26V possibly damaging Het
Ppcdc A T 9: 57,420,288 (GRCm38) W79R probably damaging Het
Prdm1 C T 10: 44,440,154 (GRCm38) C662Y probably damaging Het
Sgms2 G A 3: 131,342,362 (GRCm38) probably benign Het
Slc31a1 T A 4: 62,388,606 (GRCm38) M133K probably damaging Het
Smg1 G A 7: 118,178,775 (GRCm38) Q1309* probably null Het
Sos1 T C 17: 80,453,810 (GRCm38) I152M probably damaging Het
Stk4 A T 2: 164,110,216 (GRCm38) probably benign Het
Syne1 T G 10: 5,250,954 (GRCm38) N3538T probably damaging Het
Tbc1d16 A G 11: 119,208,840 (GRCm38) F236S probably damaging Het
Tgs1 T A 4: 3,595,475 (GRCm38) M548K probably benign Het
Twf1 G A 15: 94,585,455 (GRCm38) T124I probably damaging Het
Tyro3 G A 2: 119,812,167 (GRCm38) G611R probably damaging Het
Unc13b T A 4: 43,173,282 (GRCm38) I1370K unknown Het
Usp40 A G 1: 87,957,310 (GRCm38) W939R probably damaging Het
Vamp8 A T 6: 72,385,571 (GRCm38) V82E probably damaging Het
Vmn2r17 A G 5: 109,427,866 (GRCm38) H201R possibly damaging Het
Whrn T C 4: 63,431,842 (GRCm38) H546R probably benign Het
Yeats2 T C 16: 20,214,478 (GRCm38) V1036A probably benign Het
Zfp352 T G 4: 90,224,338 (GRCm38) N238K probably benign Het
Zfp36l3 TCCAGGGGCGAGGGCAGCCCCAGGAGCAAGGGCCGCCCTAGGAATGAGGGCCGCCCCAGG TCCAGG X: 53,774,554 (GRCm38) probably benign Het
Zfp462 T A 4: 55,011,510 (GRCm38) S1159T probably benign Het
Zscan4-ps1 A T 7: 11,066,265 (GRCm38) H232Q probably benign 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
R6764:Aff4 UTSW 11 53,399,830 (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
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'- CGGATTCAGAGCATGCTTGG -3'
(R):5'- AAGAAACAGCCTGGGGTTTTC -3'

Sequencing Primer
(F):5'- TTCAGAGCATGCTTGGAAACTACG -3'
(R):5'- TCCAGGGCTTGAGGATCGAG -3'
Posted On 2022-04-18