Incidental Mutation 'IGL02707:Aff4'
ID304409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aff4
Ensembl Gene ENSMUSG00000049470
Gene NameAF4/FMR2 family, member 4
SynonymsLaf4l, Alf4
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02707
Quality Score
Status
Chromosome11
Chromosomal Location53350833-53421830 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 53399740 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 509 (N509S)
Ref Sequence ENSEMBL: ENSMUSP00000051479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060945]
Predicted Effect probably benign
Transcript: ENSMUST00000060945
AA Change: N509S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: N509S

DomainStartEndE-ValueType
Pfam:AF-4 2 1156 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130152
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 noncoding transcript
Transcript: ENSMUST00000154499
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,258,645 T149A probably benign Het
4932414N04Rik A C 2: 68,731,130 Q267P possibly damaging Het
Actr5 T C 2: 158,636,697 V489A probably benign Het
Adam26b T C 8: 43,519,858 probably benign Het
Arhgap22 C T 14: 33,363,272 probably benign Het
Arhgap9 C A 10: 127,329,607 H628Q probably damaging Het
Asap1 A T 15: 64,129,274 I486N probably damaging Het
Asb15 A T 6: 24,558,788 probably benign Het
Avil A G 10: 127,006,562 D70G probably damaging Het
Cct6b T C 11: 82,754,954 probably benign Het
Cep63 A T 9: 102,586,981 I717K probably damaging Het
Chd4 G T 6: 125,108,767 A875S probably damaging Het
Col4a4 A T 1: 82,493,516 M706K unknown Het
Cr1l T C 1: 195,123,711 T155A probably benign Het
Ctnna3 A G 10: 63,504,065 N10S probably benign Het
Cubn A G 2: 13,446,032 V854A probably damaging Het
Dgkh T C 14: 78,585,651 T845A possibly damaging Het
F10 G A 8: 13,048,252 A152T probably damaging Het
Gabrg3 C A 7: 56,982,691 E170* probably null Het
Heatr5a A G 12: 51,921,366 V829A probably benign Het
Htt T A 5: 34,829,881 probably null Het
Icam4 T C 9: 21,030,474 Y257H possibly damaging Het
Jph1 A G 1: 17,004,451 S448P probably benign Het
Kansl1l G A 1: 66,773,445 L125F probably damaging Het
Kifc1 A T 17: 33,881,493 C46* probably null Het
Lce3b A G 3: 92,933,886 D96G unknown Het
Mab21l1 A T 3: 55,783,084 I31F possibly damaging Het
Mctp2 A G 7: 72,259,341 Y75H possibly damaging Het
Mesp2 A G 7: 79,811,526 I200V probably benign Het
Msr1 T C 8: 39,632,829 probably benign Het
Mtfr2 C T 10: 20,348,338 T6I probably benign Het
Myo5b T C 18: 74,695,367 probably benign Het
Myoc T A 1: 162,639,460 I66N probably benign Het
Olfr1242 A T 2: 89,493,827 Y162N probably damaging Het
Olfr1355 T C 10: 78,879,925 L251S probably damaging Het
Olfr149 T C 9: 39,702,641 I43V probably damaging Het
Olfr639 A C 7: 104,012,402 L100W probably damaging Het
Olfr659 T C 7: 104,670,929 C76R probably damaging Het
Olfr667 A G 7: 104,916,652 C215R probably damaging Het
Per2 T C 1: 91,450,728 D33G possibly damaging Het
Pknox1 A G 17: 31,602,819 I295V possibly damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Rhot2 A G 17: 25,844,296 S19P probably damaging Het
Rps6kb1 C A 11: 86,535,410 probably null Het
Serpinb1b C T 13: 33,091,665 T194I probably benign Het
Smarcad1 T A 6: 65,052,806 probably benign Het
Stxbp4 A G 11: 90,537,933 S449P probably benign Het
Thrb A C 14: 18,026,721 I275L probably benign Het
Tjp1 T A 7: 65,329,683 K365* probably null Het
Tjp1 T A 7: 65,329,682 K365I possibly damaging Het
Tm4sf4 C A 3: 57,426,518 C75* probably null Het
Tmem131 T C 1: 36,825,479 T558A probably benign Het
Txndc16 T C 14: 45,162,273 T408A probably benign Het
Ube2j1 T C 4: 33,038,206 L38P possibly damaging Het
Urb2 T C 8: 124,030,686 I1044T probably benign Het
Other mutations in Aff4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Aff4 APN 11 53411990 missense probably damaging 0.98
IGL01348:Aff4 APN 11 53402500 missense probably benign
IGL01446:Aff4 APN 11 53415469 missense probably damaging 0.99
IGL02151:Aff4 APN 11 53399806 missense probably benign
IGL02526:Aff4 APN 11 53406682 splice site probably benign
IGL02567:Aff4 APN 11 53372751 missense possibly damaging 0.64
IGL02633:Aff4 APN 11 53409371 splice site probably benign
R0090:Aff4 UTSW 11 53392782 missense probably benign 0.01
R0128:Aff4 UTSW 11 53415466 missense probably damaging 0.99
R0243:Aff4 UTSW 11 53397858 missense possibly damaging 0.74
R0345:Aff4 UTSW 11 53372881 missense probably benign 0.00
R0347:Aff4 UTSW 11 53400088 missense probably benign 0.01
R0732:Aff4 UTSW 11 53375596 missense probably benign
R0737:Aff4 UTSW 11 53410953 nonsense probably null
R1464:Aff4 UTSW 11 53372524 missense probably damaging 0.97
R1464:Aff4 UTSW 11 53372524 missense probably damaging 0.97
R1500:Aff4 UTSW 11 53372378 missense probably benign 0.00
R1693:Aff4 UTSW 11 53396553 missense probably damaging 1.00
R1743:Aff4 UTSW 11 53368695 missense possibly damaging 0.65
R1961:Aff4 UTSW 11 53372999 missense probably damaging 1.00
R2048:Aff4 UTSW 11 53398385 missense probably benign 0.39
R2138:Aff4 UTSW 11 53372512 missense possibly damaging 0.94
R2155:Aff4 UTSW 11 53399619 missense probably damaging 1.00
R2379:Aff4 UTSW 11 53408478 splice site probably benign
R4156:Aff4 UTSW 11 53410899 intron probably benign
R5001:Aff4 UTSW 11 53404357 missense probably damaging 1.00
R5281:Aff4 UTSW 11 53372288 missense probably damaging 1.00
R5477:Aff4 UTSW 11 53408472 critical splice donor site probably null
R5677:Aff4 UTSW 11 53400275 missense possibly damaging 0.55
R5992:Aff4 UTSW 11 53373010 missense probably damaging 0.99
R6576:Aff4 UTSW 11 53400441 missense probably damaging 1.00
R6764:Aff4 UTSW 11 53399830 missense probably damaging 1.00
R6988:Aff4 UTSW 11 53398237 missense probably damaging 1.00
R7034:Aff4 UTSW 11 53408409 missense probably damaging 0.99
R7177:Aff4 UTSW 11 53406639 missense probably benign 0.10
R7426:Aff4 UTSW 11 53372875 missense probably damaging 1.00
Posted On2015-04-16