Incidental Mutation 'IGL02664:Mllt3'
ID 302666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mllt3
Ensembl Gene ENSMUSG00000028496
Gene Name myeloid/lymphoid or mixed-lineage leukemia; translocated to, 3
Synonyms Af9, 3830408D16Rik, 2210011H10Rik, D4Ertd321e, 2610012I03Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02664
Quality Score
Status
Chromosome 4
Chromosomal Location 87688162-87951601 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 87949860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Glycine at position 29 (W29G)
Ref Sequence ENSEMBL: ENSMUSP00000127376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078090] [ENSMUST00000142454]
AlphaFold A2AM29
Predicted Effect probably damaging
Transcript: ENSMUST00000078090
AA Change: W32G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077232
Gene: ENSMUSG00000028496
AA Change: W32G

DomainStartEndE-ValueType
Pfam:YEATS 29 110 2.3e-29 PFAM
SCOP:d1l9ha_ 126 173 9e-3 SMART
internal_repeat_1 195 214 9.17e-5 PROSPERO
internal_repeat_1 206 225 9.17e-5 PROSPERO
low complexity region 226 246 N/A INTRINSIC
low complexity region 291 314 N/A INTRINSIC
SCOP:d1qbkb_ 315 467 7e-4 SMART
PDB:2LM0|A 485 569 3e-48 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141526
Predicted Effect probably damaging
Transcript: ENSMUST00000142454
AA Change: W29G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127376
Gene: ENSMUSG00000028496
AA Change: W29G

DomainStartEndE-ValueType
Pfam:YEATS 26 66 2.6e-15 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: About 50% of homozygous null mice die perinatally while the remaining 50% become runted and die within two weeks of birth with severe defects of the axial skeleton, including anterior homeotic transformation of the cervical and thoracic regions, a deformed atlas and an extra cervical vertebra. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 A T 5: 36,006,860 (GRCm39) D425V probably damaging Het
Afdn G T 17: 14,072,728 (GRCm39) probably benign Het
Afg2a A G 3: 37,490,814 (GRCm39) D453G probably damaging Het
Ap2a2 C T 7: 141,209,136 (GRCm39) T776I probably benign Het
Apcdd1 T C 18: 63,084,891 (GRCm39) probably benign Het
Bdp1 A T 13: 100,188,047 (GRCm39) Y1513N probably benign Het
Btaf1 T C 19: 36,955,828 (GRCm39) probably benign Het
C2cd3 A T 7: 100,068,922 (GRCm39) M917L possibly damaging Het
Cmtm6 T C 9: 114,575,613 (GRCm39) V174A probably benign Het
Cyp2d12 T A 15: 82,443,535 (GRCm39) I448K probably benign Het
Ddb1 A G 19: 10,585,247 (GRCm39) I101V probably benign Het
Dicer1 A G 12: 104,671,388 (GRCm39) Y961H probably damaging Het
Dnaaf1 T G 8: 120,309,260 (GRCm39) I116S probably damaging Het
Ecscr T A 18: 35,854,451 (GRCm39) I5F possibly damaging Het
Eftud2 T C 11: 102,732,538 (GRCm39) E691G probably damaging Het
Fat2 A G 11: 55,201,922 (GRCm39) V384A probably damaging Het
Ftcd T C 10: 76,420,439 (GRCm39) M391T probably damaging Het
Gab2 T G 7: 96,953,389 (GRCm39) S587R probably damaging Het
Gm18856 G A 13: 14,139,809 (GRCm39) probably benign Het
Herc2 A T 7: 55,785,426 (GRCm39) R1559* probably null Het
Inpp5f G A 7: 128,265,738 (GRCm39) R161H probably damaging Het
Iws1 A T 18: 32,203,217 (GRCm39) D31V possibly damaging Het
Klhl2 A T 8: 65,205,801 (GRCm39) Y373* probably null Het
Lce6a A T 3: 92,527,607 (GRCm39) C67S possibly damaging Het
Lrba A G 3: 86,233,038 (GRCm39) I800V possibly damaging Het
Mis18bp1 A C 12: 65,200,654 (GRCm39) Y407* probably null Het
Mon2 A G 10: 122,845,401 (GRCm39) probably benign Het
Mtbp C T 15: 55,483,039 (GRCm39) T372M probably benign Het
Nefm A T 14: 68,357,664 (GRCm39) probably benign Het
Nf1 A T 11: 79,335,424 (GRCm39) probably null Het
Nf1 G A 11: 79,335,425 (GRCm39) probably null Het
Ntn1 T A 11: 68,276,295 (GRCm39) I218F probably benign Het
Numa1 T G 7: 101,648,109 (GRCm39) S613R possibly damaging Het
Or14a259 C T 7: 86,012,811 (GRCm39) V245I possibly damaging Het
Pcsk5 A T 19: 17,434,134 (GRCm39) D1411E probably damaging Het
Prl2b1 G T 13: 27,569,225 (GRCm39) N124K possibly damaging Het
Rab15 T C 12: 76,851,225 (GRCm39) I30M possibly damaging Het
Rnf215 G T 11: 4,090,307 (GRCm39) V342L probably damaging Het
Saxo4 A T 19: 10,459,655 (GRCm39) S17R probably damaging Het
Togaram2 T A 17: 72,036,234 (GRCm39) I908N probably damaging Het
Trim54 A G 5: 31,293,391 (GRCm39) N205S probably damaging Het
Ttn G A 2: 76,697,795 (GRCm39) T80I possibly damaging Het
Vmn2r106 G A 17: 20,488,344 (GRCm39) T685I possibly damaging Het
Vwa5b2 T C 16: 20,414,063 (GRCm39) probably benign Het
Zfat A T 15: 68,052,570 (GRCm39) I401N probably damaging Het
Zfp40 G A 17: 23,395,960 (GRCm39) S209F probably benign Het
Other mutations in Mllt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Mllt3 APN 4 87,710,118 (GRCm39) missense probably benign 0.00
IGL01078:Mllt3 APN 4 87,798,297 (GRCm39) splice site probably benign
IGL01337:Mllt3 APN 4 87,759,057 (GRCm39) missense probably damaging 0.99
PIT4504001:Mllt3 UTSW 4 87,692,324 (GRCm39) missense probably damaging 1.00
R0226:Mllt3 UTSW 4 87,758,969 (GRCm39) missense probably benign 0.00
R0415:Mllt3 UTSW 4 87,759,576 (GRCm39) utr 3 prime probably benign
R0540:Mllt3 UTSW 4 87,759,281 (GRCm39) missense possibly damaging 0.73
R0618:Mllt3 UTSW 4 87,759,504 (GRCm39) utr 3 prime probably benign
R0932:Mllt3 UTSW 4 87,707,621 (GRCm39) missense probably damaging 0.99
R1713:Mllt3 UTSW 4 87,701,901 (GRCm39) missense probably damaging 1.00
R4748:Mllt3 UTSW 4 87,759,018 (GRCm39) missense possibly damaging 0.60
R4928:Mllt3 UTSW 4 87,700,642 (GRCm39) splice site probably null
R5086:Mllt3 UTSW 4 87,707,535 (GRCm39) missense probably damaging 0.99
R5186:Mllt3 UTSW 4 87,759,232 (GRCm39) missense probably benign 0.00
R5359:Mllt3 UTSW 4 87,759,164 (GRCm39) missense probably benign 0.21
R5371:Mllt3 UTSW 4 87,759,093 (GRCm39) missense possibly damaging 0.64
R5713:Mllt3 UTSW 4 87,759,448 (GRCm39) missense probably benign 0.01
R5787:Mllt3 UTSW 4 87,759,057 (GRCm39) missense probably damaging 0.99
R6346:Mllt3 UTSW 4 87,759,445 (GRCm39) missense probably damaging 1.00
R6462:Mllt3 UTSW 4 87,692,338 (GRCm39) missense probably damaging 1.00
R6621:Mllt3 UTSW 4 87,759,034 (GRCm39) missense possibly damaging 0.66
R6629:Mllt3 UTSW 4 87,759,504 (GRCm39) utr 3 prime probably benign
R7380:Mllt3 UTSW 4 87,710,180 (GRCm39) missense possibly damaging 0.85
R7600:Mllt3 UTSW 4 87,759,456 (GRCm39) missense probably benign 0.07
R8045:Mllt3 UTSW 4 87,759,350 (GRCm39) missense probably damaging 1.00
R8871:Mllt3 UTSW 4 87,759,552 (GRCm39) utr 3 prime probably benign
R9281:Mllt3 UTSW 4 87,707,566 (GRCm39) missense probably benign 0.12
R9300:Mllt3 UTSW 4 87,692,284 (GRCm39) nonsense probably null
R9341:Mllt3 UTSW 4 87,792,168 (GRCm39) missense possibly damaging 0.46
R9343:Mllt3 UTSW 4 87,792,168 (GRCm39) missense possibly damaging 0.46
R9544:Mllt3 UTSW 4 87,759,418 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16