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, D4Ertd321e, 2610012I03Rik, 3830408D16Rik, 2210011H10Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02664
Quality Score
Status
Chromosome 4
Chromosomal Location 87769925-88033364 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 88031623 bp (GRCm38)
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: 35,849,516 D425V probably damaging Het
Afdn G T 17: 13,852,466 probably benign Het
Ap2a2 C T 7: 141,629,223 T776I probably benign Het
Apcdd1 T C 18: 62,951,820 probably benign Het
Bdp1 A T 13: 100,051,539 Y1513N probably benign Het
Btaf1 T C 19: 36,978,428 probably benign Het
C2cd3 A T 7: 100,419,715 M917L possibly damaging Het
Cmtm6 T C 9: 114,746,545 V174A probably benign Het
Cyp2d12 T A 15: 82,559,334 I448K probably benign Het
Ddb1 A G 19: 10,607,883 I101V probably benign Het
Dicer1 A G 12: 104,705,129 Y961H probably damaging Het
Dnaaf1 T G 8: 119,582,521 I116S probably damaging Het
Ecscr T A 18: 35,721,398 I5F possibly damaging Het
Eftud2 T C 11: 102,841,712 E691G probably damaging Het
Fat2 A G 11: 55,311,096 V384A probably damaging Het
Ftcd T C 10: 76,584,605 M391T probably damaging Het
Gab2 T G 7: 97,304,182 S587R probably damaging Het
Gm18856 G A 13: 13,965,224 probably benign Het
Herc2 A T 7: 56,135,678 R1559* probably null Het
Inpp5f G A 7: 128,664,014 R161H probably damaging Het
Iws1 A T 18: 32,070,164 D31V possibly damaging Het
Klhl2 A T 8: 64,752,767 Y373* probably null Het
Lce6a A T 3: 92,620,300 C67S possibly damaging Het
Lrba A G 3: 86,325,731 I800V possibly damaging Het
Mis18bp1 A C 12: 65,153,880 Y407* probably null Het
Mon2 A G 10: 123,009,496 probably benign Het
Mtbp C T 15: 55,619,643 T372M probably benign Het
Nefm A T 14: 68,120,215 probably benign Het
Nf1 A T 11: 79,444,598 probably null Het
Nf1 G A 11: 79,444,599 probably null Het
Ntn1 T A 11: 68,385,469 I218F probably benign Het
Numa1 T G 7: 101,998,902 S613R possibly damaging Het
Olfr305 C T 7: 86,363,603 V245I possibly damaging Het
Pcsk5 A T 19: 17,456,770 D1411E probably damaging Het
Ppp1r32 A T 19: 10,482,291 S17R probably damaging Het
Prl2b1 G T 13: 27,385,242 N124K possibly damaging Het
Rab15 T C 12: 76,804,451 I30M possibly damaging Het
Rnf215 G T 11: 4,140,307 V342L probably damaging Het
Spata5 A G 3: 37,436,665 D453G probably damaging Het
Togaram2 T A 17: 71,729,239 I908N probably damaging Het
Trim54 A G 5: 31,136,047 N205S probably damaging Het
Ttn G A 2: 76,867,451 T80I possibly damaging Het
Vmn2r106 G A 17: 20,268,082 T685I possibly damaging Het
Vwa5b2 T C 16: 20,595,313 probably benign Het
Zfat A T 15: 68,180,721 I401N probably damaging Het
Zfp40 G A 17: 23,176,986 S209F probably benign Het
Other mutations in Mllt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Mllt3 APN 4 87791881 missense probably benign 0.00
IGL01078:Mllt3 APN 4 87880060 splice site probably benign
IGL01337:Mllt3 APN 4 87840820 missense probably damaging 0.99
PIT4504001:Mllt3 UTSW 4 87774087 missense probably damaging 1.00
R0226:Mllt3 UTSW 4 87840732 missense probably benign 0.00
R0415:Mllt3 UTSW 4 87841339 utr 3 prime probably benign
R0540:Mllt3 UTSW 4 87841044 missense possibly damaging 0.73
R0618:Mllt3 UTSW 4 87841267 utr 3 prime probably benign
R0932:Mllt3 UTSW 4 87789384 missense probably damaging 0.99
R1713:Mllt3 UTSW 4 87783664 missense probably damaging 1.00
R4748:Mllt3 UTSW 4 87840781 missense possibly damaging 0.60
R4928:Mllt3 UTSW 4 87782405 splice site probably null
R5086:Mllt3 UTSW 4 87789298 missense probably damaging 0.99
R5186:Mllt3 UTSW 4 87840995 missense probably benign 0.00
R5359:Mllt3 UTSW 4 87840927 missense probably benign 0.21
R5371:Mllt3 UTSW 4 87840856 missense possibly damaging 0.64
R5713:Mllt3 UTSW 4 87841211 missense probably benign 0.01
R5787:Mllt3 UTSW 4 87840820 missense probably damaging 0.99
R6346:Mllt3 UTSW 4 87841208 missense probably damaging 1.00
R6462:Mllt3 UTSW 4 87774101 missense probably damaging 1.00
R6621:Mllt3 UTSW 4 87840797 missense possibly damaging 0.66
R6629:Mllt3 UTSW 4 87841267 utr 3 prime probably benign
R7380:Mllt3 UTSW 4 87791943 missense possibly damaging 0.85
R7600:Mllt3 UTSW 4 87841219 missense probably benign 0.07
R8045:Mllt3 UTSW 4 87841113 missense probably damaging 1.00
R8871:Mllt3 UTSW 4 87841315 utr 3 prime probably benign
R9281:Mllt3 UTSW 4 87789329 missense probably benign 0.12
R9300:Mllt3 UTSW 4 87774047 nonsense probably null
R9341:Mllt3 UTSW 4 87873931 missense possibly damaging 0.46
R9343:Mllt3 UTSW 4 87873931 missense possibly damaging 0.46
R9544:Mllt3 UTSW 4 87841181 missense probably damaging 1.00
Posted On 2015-04-16