Incidental Mutation 'R9121:Mlf1'
ID 692766
Institutional Source Beutler Lab
Gene Symbol Mlf1
Ensembl Gene ENSMUSG00000048416
Gene Name myeloid leukemia factor 1
Synonyms HLS7
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.373) question?
Stock # R9121 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 67281430-67307333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67307054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 255 (S255P)
Ref Sequence ENSEMBL: ENSMUSP00000058596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061322] [ENSMUST00000077916] [ENSMUST00000126628]
AlphaFold Q9QWV4
Predicted Effect probably benign
Transcript: ENSMUST00000061322
AA Change: S255P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058596
Gene: ENSMUSG00000048416
AA Change: S255P

DomainStartEndE-ValueType
Pfam:Mlf1IP 26 217 7.4e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077916
AA Change: S240P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077072
Gene: ENSMUSG00000048416
AA Change: S240P

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (44/44)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A T 13: 68,820,078 (GRCm39) N720K probably benign Het
Ampd1 C T 3: 103,005,998 (GRCm39) Q603* probably null Het
Arap2 G A 5: 62,906,326 (GRCm39) T231M possibly damaging Het
Atp2b4 TCT TCTGCT 1: 133,629,463 (GRCm39) probably benign Het
Cap1 C T 4: 122,761,516 (GRCm39) R122Q probably damaging Het
Cdh10 G A 15: 19,011,074 (GRCm39) V586M probably damaging Het
Clvs2 A T 10: 33,389,331 (GRCm39) V303E possibly damaging Het
Cnnm3 C A 1: 36,563,158 (GRCm39) C707* probably null Het
Crtc3 A G 7: 80,242,323 (GRCm39) F497L probably damaging Het
Csmd3 T C 15: 47,683,774 (GRCm39) Y949C Het
D5Ertd579e A T 5: 36,772,778 (GRCm39) I539N probably damaging Het
Dctpp1 T C 7: 126,856,456 (GRCm39) R89G probably damaging Het
Dnah7c T A 1: 46,704,650 (GRCm39) V2221E probably damaging Het
Dnah7c C A 1: 46,816,896 (GRCm39) L3628I probably benign Het
E030025P04Rik A G 11: 109,034,738 (GRCm39) F50S unknown Het
Edrf1 CGG CG 7: 133,258,770 (GRCm39) probably null Het
Epb41l1 T G 2: 156,364,487 (GRCm39) S999A probably benign Het
Fbxw10 T A 11: 62,738,153 (GRCm39) C16S possibly damaging Het
Fbxw19 G A 9: 109,324,890 (GRCm39) P9L probably damaging Het
Gpi1 A T 7: 33,907,114 (GRCm39) Y327N probably damaging Het
Hook3 A G 8: 26,525,195 (GRCm39) L637P probably damaging Het
Idh3a T C 9: 54,493,829 (GRCm39) probably null Het
Ighv1-56 T A 12: 115,206,634 (GRCm39) T47S probably benign Het
Iglc2 A C 16: 19,017,294 (GRCm39) C103G probably damaging Het
Mbd5 A G 2: 49,148,102 (GRCm39) T771A possibly damaging Het
Mcm2 C A 6: 88,861,019 (GRCm39) R893L probably benign Het
Mettl15 A T 2: 109,104,948 (GRCm39) V19E Het
Mier2 G A 10: 79,377,594 (GRCm39) A453V Het
Obsl1 T C 1: 75,482,636 (GRCm39) D78G possibly damaging Het
Or5w14 T A 2: 87,541,975 (GRCm39) I92F probably damaging Het
Or8b55 T A 9: 38,726,976 (GRCm39) M59K probably damaging Het
Otof T C 5: 30,536,462 (GRCm39) K1340E probably benign Het
Pla2g4c A G 7: 13,091,010 (GRCm39) D589G probably damaging Het
Qrfpr A G 3: 36,235,156 (GRCm39) V278A probably damaging Het
Qrich2 T A 11: 116,347,272 (GRCm39) H1184L unknown Het
Rnaset2a A G 17: 8,347,549 (GRCm39) F250S possibly damaging Het
Sfrp5 T C 19: 42,190,356 (GRCm39) Y32C probably damaging Het
Slc44a3 A G 3: 121,254,786 (GRCm39) S611P probably benign Het
Slco1a1 C A 6: 141,892,542 (GRCm39) probably benign Het
Synj2 A T 17: 6,040,599 (GRCm39) D225V probably damaging Het
Tacc1 G T 8: 25,659,255 (GRCm39) S570R probably damaging Het
Trim7 T A 11: 48,740,674 (GRCm39) L257Q probably damaging Het
Trpm8 T A 1: 88,312,423 (GRCm39) N1101K probably benign Het
Unc79 C T 12: 102,968,095 (GRCm39) T107M probably damaging Het
Usp54 A G 14: 20,631,523 (GRCm39) probably null Het
Zzef1 T A 11: 72,756,946 (GRCm39) Y1150* probably null Het
Other mutations in Mlf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02138:Mlf1 APN 3 67,307,046 (GRCm39) missense probably benign 0.20
IGL02673:Mlf1 APN 3 67,301,280 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- ACACTGTTTAAGCTGCAAGTG -3'
(R):5'- ACGGTTGACCAATTTAACCACATTG -3'

Sequencing Primer
(F):5'- CACTGTTTAAGCTGCAAGTGATTTG -3'
(R):5'- GCATTGATTTAACAACAGGAGATTGG -3'
Posted On 2021-12-30