Incidental Mutation 'IGL02673:Mlf1'
ID 302990
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mlf1
Ensembl Gene ENSMUSG00000048416
Gene Name myeloid leukemia factor 1
Synonyms HLS7
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.373) question?
Stock # IGL02673
Quality Score
Status
Chromosome 3
Chromosomal Location 67281430-67307333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67301280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 98 (M98V)
Ref Sequence ENSEMBL: ENSMUSP00000077072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061322] [ENSMUST00000077916] [ENSMUST00000126628]
AlphaFold Q9QWV4
Predicted Effect probably benign
Transcript: ENSMUST00000061322
AA Change: M113V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058596
Gene: ENSMUSG00000048416
AA Change: M113V

DomainStartEndE-ValueType
Pfam:Mlf1IP 26 217 7.4e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077916
AA Change: M98V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077072
Gene: ENSMUSG00000048416
AA Change: M98V

DomainStartEndE-ValueType
Pfam:Mlf1IP 26 203 1.5e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126628
SMART Domains Protein: ENSMUSP00000141208
Gene: ENSMUSG00000048416

DomainStartEndE-ValueType
Pfam:Mlf1IP 26 69 5.5e-7 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an oncoprotein which is thought to play a role in the phenotypic determination of hemopoetic cells. Translocations between this gene and nucleophosmin have been associated with myelodysplastic syndrome and acute myeloid leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik T A 14: 70,395,056 (GRCm39) T33S probably benign Het
Abca4 T C 3: 121,897,150 (GRCm39) Y610H probably damaging Het
Agl A T 3: 116,575,248 (GRCm39) C630S probably benign Het
Alkbh6 G T 7: 30,013,536 (GRCm39) G202C probably damaging Het
Ascc3 A T 10: 50,536,769 (GRCm39) M701L probably benign Het
Bpgm T A 6: 34,464,769 (GRCm39) L162Q probably damaging Het
Ccdc150 A G 1: 54,368,149 (GRCm39) T592A probably benign Het
Chpf2 G A 5: 24,796,302 (GRCm39) R416Q probably benign Het
Col14a1 G A 15: 55,282,178 (GRCm39) G813E unknown Het
Col18a1 C T 10: 76,894,997 (GRCm39) G983D probably damaging Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Cyp2a22 T G 7: 26,637,525 (GRCm39) K157Q probably benign Het
Dhx57 A G 17: 80,574,974 (GRCm39) V668A probably damaging Het
Eps8l1 T A 7: 4,481,731 (GRCm39) V743E probably damaging Het
Fnbp4 C T 2: 90,593,816 (GRCm39) T557M probably benign Het
Fzd5 C T 1: 64,774,265 (GRCm39) E499K possibly damaging Het
Gm57858 A C 3: 36,100,848 (GRCm39) probably benign Het
Il1r2 A G 1: 40,154,323 (GRCm39) Y230C probably damaging Het
Insrr A C 3: 87,720,368 (GRCm39) E1002A possibly damaging Het
Kdm4a C T 4: 118,025,769 (GRCm39) D146N probably benign Het
Kidins220 G A 12: 25,044,991 (GRCm39) V262M probably damaging Het
Kif26b C T 1: 178,649,170 (GRCm39) P430L probably damaging Het
Mamdc4 T C 2: 25,460,066 (GRCm39) S62G probably benign Het
Mcu C A 10: 59,303,466 (GRCm39) V124F probably damaging Het
Mogs T C 6: 83,095,199 (GRCm39) V672A probably damaging Het
Ntrk3 T C 7: 77,900,512 (GRCm39) D609G probably damaging Het
Or1n1 C T 2: 36,750,188 (GRCm39) M57I probably benign Het
Pdlim5 T A 3: 142,058,548 (GRCm39) E65D probably damaging Het
Peg3 T C 7: 6,713,413 (GRCm39) N603S probably damaging Het
Pkd1 A G 17: 24,790,257 (GRCm39) Y980C probably benign Het
Rack1 A G 11: 48,691,357 (GRCm39) T23A probably benign Het
Rad50 A T 11: 53,579,067 (GRCm39) I497K probably benign Het
Sin3a C A 9: 57,014,725 (GRCm39) Q649K probably damaging Het
Sirt6 A G 10: 81,461,671 (GRCm39) F46L probably damaging Het
Slc40a1 A T 1: 45,957,576 (GRCm39) I136N possibly damaging Het
Sspo G A 6: 48,452,794 (GRCm39) R2834H probably damaging Het
Sspo G T 6: 48,475,709 (GRCm39) probably null Het
Sycp2 T A 2: 178,036,004 (GRCm39) T228S possibly damaging Het
Uhrf2 T A 19: 30,070,207 (GRCm39) N785K probably damaging Het
Vmn2r58 T A 7: 41,514,082 (GRCm39) Y187F possibly damaging Het
Vmn2r80 A G 10: 79,005,318 (GRCm39) I318M probably benign Het
Vps13c T C 9: 67,785,380 (GRCm39) L249P probably damaging Het
Zw10 T A 9: 48,988,893 (GRCm39) probably null Het
Other mutations in Mlf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02138:Mlf1 APN 3 67,307,046 (GRCm39) missense probably benign 0.20
IGL03308:Mlf1 APN 3 67,305,140 (GRCm39) missense probably damaging 1.00
R1998:Mlf1 UTSW 3 67,302,624 (GRCm39) missense probably damaging 1.00
R2281:Mlf1 UTSW 3 67,307,084 (GRCm39) missense possibly damaging 0.95
R2566:Mlf1 UTSW 3 67,291,919 (GRCm39) missense possibly damaging 0.56
R4238:Mlf1 UTSW 3 67,291,910 (GRCm39) missense probably benign 0.01
R5367:Mlf1 UTSW 3 67,301,296 (GRCm39) missense probably damaging 1.00
R6176:Mlf1 UTSW 3 67,291,927 (GRCm39) missense probably damaging 1.00
R6326:Mlf1 UTSW 3 67,307,060 (GRCm39) missense probably damaging 0.97
R6457:Mlf1 UTSW 3 67,300,277 (GRCm39) missense probably benign 0.12
R7482:Mlf1 UTSW 3 67,300,227 (GRCm39) missense probably benign 0.39
R7640:Mlf1 UTSW 3 67,300,266 (GRCm39) missense possibly damaging 0.49
R8034:Mlf1 UTSW 3 67,291,921 (GRCm39) missense probably damaging 1.00
R8742:Mlf1 UTSW 3 67,305,119 (GRCm39) missense probably damaging 0.98
R8783:Mlf1 UTSW 3 67,291,997 (GRCm39) missense probably benign
R9121:Mlf1 UTSW 3 67,307,054 (GRCm39) missense probably benign
Posted On 2015-04-16