Incidental Mutation 'R4238:Mlf1'
ID 321199
Institutional Source Beutler Lab
Gene Symbol Mlf1
Ensembl Gene ENSMUSG00000048416
Gene Name myeloid leukemia factor 1
Synonyms HLS7
MMRRC Submission 041055-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.373) question?
Stock # R4238 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 67281430-67307333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 67291910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 25 (S25N)
Ref Sequence ENSEMBL: ENSMUSP00000141208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061322] [ENSMUST00000077916] [ENSMUST00000126628]
AlphaFold Q9QWV4
Predicted Effect probably benign
Transcript: ENSMUST00000061322
AA Change: S25N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000058596
Gene: ENSMUSG00000048416
AA Change: S25N

DomainStartEndE-ValueType
Pfam:Mlf1IP 26 217 7.4e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077916
AA Change: S25N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077072
Gene: ENSMUSG00000048416
AA Change: S25N

DomainStartEndE-ValueType
Pfam:Mlf1IP 26 203 1.5e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126628
AA Change: S25N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000141208
Gene: ENSMUSG00000048416
AA Change: S25N

DomainStartEndE-ValueType
Pfam:Mlf1IP 26 69 5.5e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142538
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 100% (42/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik C T 13: 119,603,478 (GRCm39) P93S probably benign Het
4930563M21Rik T C 9: 55,888,126 (GRCm39) D397G probably benign Het
Aar2 A G 2: 156,393,064 (GRCm39) E151G possibly damaging Het
Cacna2d4 A G 6: 119,217,669 (GRCm39) D125G probably null Het
Cdc20 C T 4: 118,290,257 (GRCm39) R468Q probably damaging Het
Cers3 T C 7: 66,423,424 (GRCm39) F87S probably damaging Het
Cfap74 C A 4: 155,547,529 (GRCm39) H1238Q probably benign Het
Cndp1 G T 18: 84,636,342 (GRCm39) H391N probably benign Het
Cpz T C 5: 35,659,818 (GRCm39) D609G probably benign Het
Dpp8 A G 9: 64,962,205 (GRCm39) D415G probably benign Het
Erbb2 A G 11: 98,318,869 (GRCm39) K549R probably benign Het
Fam186a T C 15: 99,841,523 (GRCm39) I1574V probably benign Het
Gm6871 G T 7: 41,195,204 (GRCm39) T511K probably damaging Het
Gpr158 G T 2: 21,373,362 (GRCm39) C99F probably damaging Het
Gtf2h1 C T 7: 46,454,489 (GRCm39) A157V probably benign Het
Hexb T C 13: 97,313,259 (GRCm39) probably benign Het
Ighv3-4 A T 12: 114,217,533 (GRCm39) D19E probably benign Het
Igkv12-44 A G 6: 69,791,868 (GRCm39) S32P probably benign Het
Klk6 A G 7: 43,478,597 (GRCm39) H168R probably benign Het
Lin54 G A 5: 100,623,603 (GRCm39) S78L possibly damaging Het
Lzts1 G T 8: 69,588,579 (GRCm39) A459E possibly damaging Het
Mrgprx2 C A 7: 48,132,738 (GRCm39) V27L probably benign Het
Myof T A 19: 37,911,456 (GRCm39) R1505* probably null Het
Or4k15 T C 14: 50,364,889 (GRCm39) V285A probably benign Het
Otud7a A G 7: 63,300,702 (GRCm39) D47G probably damaging Het
Phactr1 T A 13: 43,248,363 (GRCm39) N437K possibly damaging Het
Polq G T 16: 36,833,543 (GRCm39) V79F probably damaging Het
Prc1 G A 7: 79,960,964 (GRCm39) probably benign Het
Psg20 A T 7: 18,418,434 (GRCm39) V111D probably damaging Het
Scamp3 G A 3: 89,089,234 (GRCm39) probably null Het
Simc1 C G 13: 54,674,073 (GRCm39) S807* probably null Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Snrpa A T 7: 26,892,293 (GRCm39) probably null Het
Sval2 T A 6: 41,837,283 (GRCm39) L4H probably damaging Het
Tax1bp1 C T 6: 52,743,036 (GRCm39) Q808* probably null Het
Tnfrsf11a T C 1: 105,754,962 (GRCm39) Y345H probably damaging Het
Trpa1 A G 1: 14,954,340 (GRCm39) L853P probably damaging Het
Trpm3 A G 19: 22,956,002 (GRCm39) R1155G probably damaging Het
Ube4a T C 9: 44,851,297 (GRCm39) E739G probably damaging Het
Zfp433 A C 10: 81,556,046 (GRCm39) T182P probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- ATGTTGTAGACTTCTCAGAGTAGTC -3'
(R):5'- TGGAAAATGCCTCCCCTTTCATATAC -3'

Sequencing Primer
(F):5'- GACTTCTCAGAGTAGTCTTACCTG -3'
(R):5'- GTAACTTACAACATTTGTGCCATG -3'
Posted On 2015-06-12