Incidental Mutation 'IGL00941:Mllt1'
ID29287
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mllt1
Ensembl Gene ENSMUSG00000024212
Gene Namemyeloid/lymphoid or mixed-lineage leukemia; translocated to, 1
SynonymsLTG19, BAM11, ENL
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00941
Quality Score
Status
Chromosome17
Chromosomal Location56892612-56935388 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 56895086 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 428 (S428R)
Ref Sequence ENSEMBL: ENSMUSP00000025053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025053]
Predicted Effect probably damaging
Transcript: ENSMUST00000025053
AA Change: S428R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025053
Gene: ENSMUSG00000024212
AA Change: S428R

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
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A C 17: 24,317,130 I521S probably damaging Het
Ace A T 11: 105,979,550 K265I probably benign Het
Acss3 A G 10: 107,053,326 probably null Het
Aldh3a2 A G 11: 61,262,256 Y215H probably damaging Het
Clk2 A G 3: 89,175,422 M393V probably damaging Het
Cyc1 A G 15: 76,345,165 I242V probably benign Het
Evpl G A 11: 116,227,901 L657F probably benign Het
Fbxw10 G A 11: 62,873,501 V675M probably damaging Het
Fgf21 A G 7: 45,615,173 V45A probably damaging Het
Gm5134 T C 10: 76,000,421 I412T possibly damaging Het
Gnat3 T C 5: 18,003,751 probably benign Het
Hk3 C T 13: 55,014,426 probably null Het
Ifna12 A T 4: 88,603,314 probably benign Het
Ipp A G 4: 116,532,659 M471V possibly damaging Het
Kcnj1 G A 9: 32,396,498 V73I probably benign Het
Kin G A 2: 10,080,704 R25H probably damaging Het
Kin T C 2: 10,080,706 W26R probably damaging Het
Mical2 T C 7: 112,321,445 probably benign Het
Ppm1k T A 6: 57,524,755 H141L probably benign Het
Sept4 G T 11: 87,589,773 C392F probably damaging Het
Slc26a11 T C 11: 119,379,901 F550L probably benign Het
Ssb T A 2: 69,870,835 probably null Het
Stk36 T A 1: 74,623,934 M588K possibly damaging Het
Ubqln4 G A 3: 88,564,501 A415T probably benign Het
Zfp839 C A 12: 110,860,948 S424R probably damaging Het
Zkscan6 G T 11: 65,814,747 G95W probably damaging Het
Other mutations in Mllt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02554:Mllt1 APN 17 56899806 missense probably benign
IGL03064:Mllt1 APN 17 56900094 missense probably benign 0.03
Weissblut UTSW 17 56905819 missense probably damaging 0.99
R2176:Mllt1 UTSW 17 56897398 missense probably benign 0.00
R4455:Mllt1 UTSW 17 56919965 missense probably damaging 1.00
R4760:Mllt1 UTSW 17 56902630 missense probably benign 0.05
R4864:Mllt1 UTSW 17 56905819 missense probably damaging 0.99
R4914:Mllt1 UTSW 17 56899813 missense probably benign
R4916:Mllt1 UTSW 17 56899813 missense probably benign
R4917:Mllt1 UTSW 17 56899813 missense probably benign
R4918:Mllt1 UTSW 17 56899813 missense probably benign
R6169:Mllt1 UTSW 17 56899822 missense probably benign
R6508:Mllt1 UTSW 17 56927054 missense probably damaging 1.00
R7216:Mllt1 UTSW 17 56927042 missense probably damaging 1.00
RF002:Mllt1 UTSW 17 56896300 missense probably benign 0.09
RF002:Mllt1 UTSW 17 56896301 missense possibly damaging 0.66
Posted On2013-04-17