Incidental Mutation 'R6508:Mllt1'
ID 524043
Institutional Source Beutler Lab
Gene Symbol Mllt1
Ensembl Gene ENSMUSG00000024212
Gene Name myeloid/lymphoid or mixed-lineage leukemia; translocated to, 1
Synonyms ENL, BAM11, LTG19
MMRRC Submission 044638-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6508 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 57199611-57242415 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57234054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 44 (I44N)
Ref Sequence ENSEMBL: ENSMUSP00000025053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025053]
AlphaFold Q9ERL0
Predicted Effect probably damaging
Transcript: ENSMUST00000025053
AA Change: I44N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025053
Gene: ENSMUSG00000024212
AA Change: I44N

DomainStartEndE-ValueType
Pfam:YEATS 29 110 1.9e-28 PFAM
low complexity region 284 299 N/A INTRINSIC
low complexity region 357 384 N/A INTRINSIC
low complexity region 399 412 N/A INTRINSIC
low complexity region 440 464 N/A INTRINSIC
PDB:2LM0|A 465 547 3e-31 PDB
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Embryos homozygous for a knock-out allele die prior to E8.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 G A 4: 144,291,590 (GRCm39) R39* probably null Het
Brca2 A T 5: 150,460,058 (GRCm39) E444D possibly damaging Het
Camkk2 G T 5: 122,884,382 (GRCm39) N346K probably damaging Het
Car4 C A 11: 84,856,469 (GRCm39) D252E possibly damaging Het
Chd1 A G 17: 15,958,895 (GRCm39) K649R probably benign Het
Col12a1 A G 9: 79,557,231 (GRCm39) Y1966H probably damaging Het
Crppa C T 12: 36,476,298 (GRCm39) A180V possibly damaging Het
Cts6 T A 13: 61,344,221 (GRCm39) H277L probably damaging Het
Dcc G T 18: 71,439,144 (GRCm39) P1246Q probably damaging Het
Dlg5 G A 14: 24,188,774 (GRCm39) T1739I probably benign Het
Eci1 T A 17: 24,656,283 (GRCm39) N164K probably damaging Het
Entpd7 G A 19: 43,679,525 (GRCm39) R26H probably damaging Het
Fanci A G 7: 79,093,516 (GRCm39) K1008E probably damaging Het
Htr2b T C 1: 86,030,186 (GRCm39) T170A possibly damaging Het
Irgm2 A G 11: 58,110,327 (GRCm39) E18G probably benign Het
Kdm1a A T 4: 136,281,621 (GRCm39) V630E probably damaging Het
Keap1 G A 9: 21,143,010 (GRCm39) T501I possibly damaging Het
L3mbtl3 T A 10: 26,194,325 (GRCm39) H424L unknown Het
Lrrc14b C T 13: 74,511,337 (GRCm39) D248N possibly damaging Het
Macf1 T A 4: 123,363,535 (GRCm39) D3364V probably damaging Het
Map3k20 G A 2: 72,272,253 (GRCm39) G794S probably benign Het
Mcat T C 15: 83,433,452 (GRCm39) Q34R probably benign Het
Mettl4 T C 17: 95,051,373 (GRCm39) E148G probably damaging Het
Mgat3 T C 15: 80,096,225 (GRCm39) S351P possibly damaging Het
Mlxipl G T 5: 135,157,474 (GRCm39) A337S probably benign Het
Naip1 A G 13: 100,572,973 (GRCm39) F254L probably damaging Het
Obscn A T 11: 58,944,973 (GRCm39) probably null Het
Or10q1 C T 19: 13,726,718 (GRCm39) P83S probably damaging Het
Pcdh12 G A 18: 38,414,390 (GRCm39) R912* probably null Het
Pcdh17 A G 14: 84,685,419 (GRCm39) N629D probably damaging Het
Pcnx1 T C 12: 81,959,479 (GRCm39) I170T probably damaging Het
Pgr A G 9: 8,956,290 (GRCm39) Y746C probably damaging Het
Pramel29 A T 4: 143,934,171 (GRCm39) L312* probably null Het
Pum2 T C 12: 8,798,861 (GRCm39) Y991H probably benign Het
Rcc1l A T 5: 134,198,077 (GRCm39) V185D probably damaging Het
Scarb1 A T 5: 125,381,389 (GRCm39) S52T possibly damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Spata4 T C 8: 55,053,887 (GRCm39) S18P probably benign Het
Stard13 G A 5: 150,986,754 (GRCm39) T134I probably benign Het
Tbc1d32 C T 10: 56,100,786 (GRCm39) C64Y probably damaging Het
Tll1 T G 8: 64,551,494 (GRCm39) I296L probably damaging Het
Tmem229b T G 12: 79,011,680 (GRCm39) T84P probably damaging Het
Ttn T C 2: 76,544,757 (GRCm39) T32782A possibly damaging Het
Vmn1r73 G A 7: 11,490,631 (GRCm39) V150I possibly damaging Het
Vmn2r80 T A 10: 79,030,290 (GRCm39) F705L probably benign Het
Other mutations in Mllt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Mllt1 APN 17 57,202,086 (GRCm39) missense probably damaging 1.00
IGL02554:Mllt1 APN 17 57,206,806 (GRCm39) missense probably benign
IGL03064:Mllt1 APN 17 57,207,094 (GRCm39) missense probably benign 0.03
Weissblut UTSW 17 57,212,819 (GRCm39) missense probably damaging 0.99
R2176:Mllt1 UTSW 17 57,204,398 (GRCm39) missense probably benign 0.00
R4455:Mllt1 UTSW 17 57,226,965 (GRCm39) missense probably damaging 1.00
R4760:Mllt1 UTSW 17 57,209,630 (GRCm39) missense probably benign 0.05
R4864:Mllt1 UTSW 17 57,212,819 (GRCm39) missense probably damaging 0.99
R4914:Mllt1 UTSW 17 57,206,813 (GRCm39) missense probably benign
R4916:Mllt1 UTSW 17 57,206,813 (GRCm39) missense probably benign
R4917:Mllt1 UTSW 17 57,206,813 (GRCm39) missense probably benign
R4918:Mllt1 UTSW 17 57,206,813 (GRCm39) missense probably benign
R6169:Mllt1 UTSW 17 57,206,822 (GRCm39) missense probably benign
R7216:Mllt1 UTSW 17 57,234,042 (GRCm39) missense probably damaging 1.00
R8865:Mllt1 UTSW 17 57,207,295 (GRCm39) missense possibly damaging 0.89
R9094:Mllt1 UTSW 17 57,212,737 (GRCm39) missense probably damaging 1.00
R9485:Mllt1 UTSW 17 57,207,184 (GRCm39) missense probably damaging 1.00
R9583:Mllt1 UTSW 17 57,209,572 (GRCm39) missense probably benign 0.05
RF002:Mllt1 UTSW 17 57,203,301 (GRCm39) missense possibly damaging 0.66
RF002:Mllt1 UTSW 17 57,203,300 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- CTTAAGCCATCACCCTAATTGC -3'
(R):5'- GAGTGTCTCTGCTTCCATGC -3'

Sequencing Primer
(F):5'- AATTGCTTCTGACCCAGGATG -3'
(R):5'- TGCTTCCATGCTGACCAGG -3'
Posted On 2018-06-22