Incidental Mutation 'IGL02633:Aff4'
ID 301412
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02633
Quality Score
Status
Chromosome 11
Chromosomal Location 53241660-53312657 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 53300198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000051479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060945]
AlphaFold Q9ESC8
Predicted Effect probably benign
Transcript: ENSMUST00000060945
SMART Domains Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470

DomainStartEndE-ValueType
Pfam:AF-4 2 1156 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129019
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195888
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abitram T C 4: 56,806,131 (GRCm39) V181A possibly damaging Het
Ap1g2 T C 14: 55,338,104 (GRCm39) probably null Het
Aspn A T 13: 49,705,363 (GRCm39) Y75F possibly damaging Het
Atm G A 9: 53,359,453 (GRCm39) T2783I probably damaging Het
Cacnb1 A T 11: 97,913,199 (GRCm39) I18N probably damaging Het
Casr T C 16: 36,336,017 (GRCm39) I97M probably damaging Het
Cnga2 T A X: 71,048,655 (GRCm39) probably benign Het
Coasy T A 11: 100,976,147 (GRCm39) L425Q probably damaging Het
Cps1 A G 1: 67,162,396 (GRCm39) T25A probably benign Het
Dnah1 T C 14: 31,006,772 (GRCm39) Y2181C probably benign Het
Efna3 A C 3: 89,222,749 (GRCm39) S230A probably damaging Het
Eng A G 2: 32,563,286 (GRCm39) I281V probably damaging Het
Erlec1 T A 11: 30,898,430 (GRCm39) R14* probably null Het
Gbp9 C T 5: 105,231,431 (GRCm39) probably benign Het
Gzmg T C 14: 56,394,160 (GRCm39) M245V probably damaging Het
Kdm5a A G 6: 120,341,680 (GRCm39) I36V probably damaging Het
Krt87 A G 15: 101,389,095 (GRCm39) V79A probably damaging Het
Limd1 A T 9: 123,308,987 (GRCm39) probably benign Het
Lmo4 T C 3: 143,899,683 (GRCm39) S155G probably benign Het
Mrpl44 G A 1: 79,753,862 (GRCm39) V5I probably benign Het
Mrpl49 T C 19: 6,104,931 (GRCm39) T146A possibly damaging Het
Mrpl58 T C 11: 115,301,457 (GRCm39) probably benign Het
Nab1 C T 1: 52,529,292 (GRCm39) V202M probably damaging Het
Nav3 T A 10: 109,527,997 (GRCm39) M2229L probably benign Het
Notch2 C T 3: 98,024,013 (GRCm39) probably benign Het
Nub1 A G 5: 24,897,931 (GRCm39) I106V probably benign Het
Prom1 A T 5: 44,172,117 (GRCm39) S595T probably benign Het
Rbfox1 T A 16: 7,110,078 (GRCm39) S165R probably damaging Het
Sipa1l2 G A 8: 126,174,507 (GRCm39) T1257I probably damaging Het
Smarcc2 T C 10: 128,305,556 (GRCm39) S327P probably damaging Het
Tdpoz1 T C 3: 93,578,056 (GRCm39) M243V probably benign Het
Ttn G T 2: 76,549,289 (GRCm39) T23469K probably damaging Het
Ube2u T C 4: 100,339,971 (GRCm39) probably benign Het
Umodl1 T C 17: 31,208,462 (GRCm39) Y836H probably damaging Het
Vmn2r45 A G 7: 8,488,728 (GRCm39) Y101H probably benign Het
Vps13a T A 19: 16,697,772 (GRCm39) Q781L possibly damaging Het
Vwce G A 19: 10,625,858 (GRCm39) V457M 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
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
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
Posted On 2015-04-16