Incidental Mutation 'R5992:Aff4'
ID 480901
Institutional Source Beutler Lab
Gene Symbol Aff4
Ensembl Gene ENSMUSG00000049470
Gene Name AF4/FMR2 family, member 4
Synonyms Laf4l, Alf4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5992 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 53241660-53312657 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53263837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 286 (S286G)
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: S286G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: S286G

DomainStartEndE-ValueType
Pfam:AF-4 2 1156 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139054
Predicted Effect possibly damaging
Transcript: ENSMUST00000152616
AA Change: S15G

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118866
Gene: ENSMUSG00000049470
AA Change: S15G

DomainStartEndE-ValueType
Pfam:AF-4 1 51 4e-15 PFAM
Pfam:AF-4 46 159 1.3e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153821
SMART Domains Protein: ENSMUSP00000120613
Gene: ENSMUSG00000049470

DomainStartEndE-ValueType
Pfam:AF-4 2 122 4.1e-60 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.9%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,819,549 (GRCm39) L188* probably null Het
Acod1 C T 14: 103,292,471 (GRCm39) R332C probably damaging Het
Adamts3 T A 5: 89,839,194 (GRCm39) K852M probably damaging Het
Adm A T 7: 110,226,903 (GRCm39) probably benign Het
Ank2 A G 3: 126,753,300 (GRCm39) probably null Het
Aqr A T 2: 113,973,530 (GRCm39) Y427* probably null Het
Arid1b C A 17: 5,045,231 (GRCm39) probably benign Het
Arpp21 T A 9: 111,972,553 (GRCm39) R259* probably null Het
Cep290 C T 10: 100,379,183 (GRCm39) A55V possibly damaging Het
Chsy3 GT G 18: 59,309,238 (GRCm39) 163 probably null Het
Clcn2 T C 16: 20,532,404 (GRCm39) E68G possibly damaging Het
Corin T A 5: 72,473,732 (GRCm39) H699L probably benign Het
Cyld T C 8: 89,459,681 (GRCm39) Y446H probably damaging Het
Dcst1 T A 3: 89,259,883 (GRCm39) E613V probably damaging Het
Dlk1 T C 12: 109,421,507 (GRCm39) C74R probably damaging Het
Dnah12 A C 14: 26,418,496 (GRCm39) K128T probably benign Het
Dspp T A 5: 104,326,317 (GRCm39) S893R unknown Het
Dtl A T 1: 191,300,684 (GRCm39) probably null Het
F2rl1 T A 13: 95,650,778 (GRCm39) S35C probably benign Het
Fcgbp A T 7: 27,819,959 (GRCm39) Y2562F probably benign Het
Fgf10 A T 13: 118,852,044 (GRCm39) D42V probably benign Het
Gm10271 A T 10: 116,808,497 (GRCm39) F6L probably damaging Het
Gm21190 T A 5: 15,729,849 (GRCm39) E256D probably damaging Het
Gm5157 A G 7: 20,919,346 (GRCm39) S66P probably damaging Het
Hal T G 10: 93,326,778 (GRCm39) L138R probably damaging Het
Hsd17b3 T C 13: 64,207,284 (GRCm39) probably null Het
Lrrc37 A T 11: 103,504,618 (GRCm39) M2450K possibly damaging Het
Lrsam1 T C 2: 32,845,234 (GRCm39) T94A probably benign Het
Macc1 T C 12: 119,411,320 (GRCm39) V696A probably damaging Het
Magi2 G A 5: 19,432,289 (GRCm39) M1I probably null Het
Marchf7 C A 2: 60,075,564 (GRCm39) N674K probably benign Het
Mfap1b A G 2: 121,300,776 (GRCm39) V34A probably benign Het
Mob3b G A 4: 35,084,069 (GRCm39) S40L probably benign Het
Ndufs2 A T 1: 171,063,987 (GRCm39) V386E probably damaging Het
Nfic C T 10: 81,256,581 (GRCm39) A19T probably damaging Het
Nfs1 G A 2: 155,976,373 (GRCm39) R174W probably damaging Het
Nin G T 12: 70,092,298 (GRCm39) S670R possibly damaging Het
Nrxn1 T C 17: 90,930,935 (GRCm39) I754V probably benign Het
Nwd1 T C 8: 73,380,201 (GRCm39) probably null Het
Or4a39 T A 2: 89,237,223 (GRCm39) M67L probably benign Het
Or4c1 T A 2: 89,133,703 (GRCm39) T78S possibly damaging Het
Or51a6 G T 7: 102,604,216 (GRCm39) N197K probably benign Het
Pcdhgb8 A G 18: 37,896,502 (GRCm39) E524G probably damaging Het
Phlpp1 A T 1: 106,246,723 (GRCm39) R638* probably null Het
Pkmyt1 G C 17: 23,954,300 (GRCm39) W360S probably benign Het
Plxnd1 C A 6: 115,944,748 (GRCm39) probably null Het
Poldip3 A T 15: 83,013,430 (GRCm39) N322K probably damaging Het
Prmt3 A T 7: 49,478,695 (GRCm39) I419L probably benign Het
Prss36 A T 7: 127,544,002 (GRCm39) V123E probably damaging Het
Prss58 A G 6: 40,874,703 (GRCm39) I46T probably damaging Het
Rac1 T C 5: 143,492,753 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,304,220 (GRCm39) Y36C probably damaging Het
Rif1 C G 2: 51,985,856 (GRCm39) L614V probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rp1 A T 1: 4,218,926 (GRCm39) F951L unknown Het
Rps6ka5 G T 12: 100,541,509 (GRCm39) P417T possibly damaging Het
Ryr1 A G 7: 28,767,062 (GRCm39) W2967R probably damaging Het
Sacs T A 14: 61,442,992 (GRCm39) S1679R probably damaging Het
Scn1a A C 2: 66,165,800 (GRCm39) W153G probably damaging Het
Serpinb7 A G 1: 107,373,726 (GRCm39) Y114C probably damaging Het
Son T C 16: 91,455,792 (GRCm39) M1513T probably benign Het
Spag8 C T 4: 43,651,534 (GRCm39) V447M probably benign Het
St3gal2 T A 8: 111,696,185 (GRCm39) Y257N probably damaging Het
Tars1 A T 15: 11,397,282 (GRCm39) D40E probably damaging Het
Tlr3 T C 8: 45,850,851 (GRCm39) H158R probably benign Het
Tppp2 G T 14: 52,156,392 (GRCm39) V50L probably benign Het
Trrap T C 5: 144,746,994 (GRCm39) S1503P probably benign Het
Ttll4 T G 1: 74,724,550 (GRCm39) S573R probably damaging Het
Vmn2r104 A T 17: 20,249,747 (GRCm39) N841K probably damaging Het
Vmn2r3 A T 3: 64,167,068 (GRCm39) C688S probably damaging Het
Vps16 T C 2: 130,266,369 (GRCm39) probably null Het
Zfp608 G A 18: 55,032,320 (GRCm39) T540I probably benign Het
Zfp775 G A 6: 48,596,750 (GRCm39) R208Q 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
R5001:Aff4 UTSW 11 53,295,184 (GRCm39) missense probably damaging 1.00
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
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'- TTCAAGTGGGCAACATTCAAGTC -3'
(R):5'- TGGATTCATGGTCAATTCCCAAG -3'

Sequencing Primer
(F):5'- GTGGGCAACATTCAAGTCAGTCTTTC -3'
(R):5'- ACAGGTGCAACTCACTG -3'
Posted On 2017-06-26