Incidental Mutation 'IGL01337:Mllt3'
ID74674
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mllt3
Ensembl Gene ENSMUSG00000028496
Gene Namemyeloid/lymphoid or mixed-lineage leukemia; translocated to, 3
SynonymsAf9, D4Ertd321e, 2610012I03Rik, 3830408D16Rik, 2210011H10Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01337
Quality Score
Status
Chromosome4
Chromosomal Location87769925-88033364 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 87840820 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 330 (D330E)
Ref Sequence ENSEMBL: ENSMUSP00000077232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078090] [ENSMUST00000142454]
Predicted Effect probably damaging
Transcript: ENSMUST00000078090
AA Change: D330E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077232
Gene: ENSMUSG00000028496
AA Change: D330E

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: ENSMUST00000134555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141526
Predicted Effect probably benign
Transcript: ENSMUST00000142454
SMART Domains Protein: ENSMUSP00000127376
Gene: ENSMUSG00000028496

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,668,570 Y1025H probably damaging Het
Adarb2 T C 13: 8,570,246 L256P probably benign Het
Arsj A G 3: 126,365,114 Y114C probably damaging Het
Bdp1 G A 13: 100,056,192 P1378L probably benign Het
Clca2 T C 3: 145,095,178 Y138C probably damaging Het
Dsp G A 13: 38,192,687 D1483N probably benign Het
Etl4 T C 2: 20,785,387 S617P probably benign Het
Fbxo34 T C 14: 47,530,217 S345P probably benign Het
Gm5420 A G 10: 21,691,615 noncoding transcript Het
Gpr182 T A 10: 127,750,786 I99F possibly damaging Het
Hectd1 A G 12: 51,802,274 I349T possibly damaging Het
Kifc5b A G 17: 26,924,744 T497A possibly damaging Het
Mpp3 T C 11: 102,000,585 T576A probably benign Het
Mroh2b A G 15: 4,905,024 M126V probably benign Het
Naalad2 T G 9: 18,327,373 D644A probably damaging Het
Olfr1247 A G 2: 89,609,376 I242T probably damaging Het
Otof C A 5: 30,405,777 A242S possibly damaging Het
Otof T C 5: 30,419,512 D132G probably benign Het
Pdk4 T A 6: 5,491,869 M68L probably benign Het
Ptprf A G 4: 118,236,291 Y385H probably damaging Het
Rxrb A G 17: 34,036,631 N254S probably damaging Het
Samd5 T A 10: 9,629,024 Y162F probably benign Het
Sapcd2 A G 2: 25,376,479 *392W probably null Het
Senp6 T C 9: 80,136,510 Y635H probably damaging Het
Serpine1 C A 5: 137,069,331 V163L probably damaging Het
Slc15a1 T C 14: 121,460,679 E678G possibly damaging Het
Slc22a16 T C 10: 40,595,314 F494L possibly damaging Het
Slc5a12 T A 2: 110,620,373 C304* probably null Het
Spink1 G A 18: 43,737,151 probably benign Het
Star G A 8: 25,809,864 G78E probably damaging Het
Stx1a T C 5: 135,045,664 I203T probably damaging Het
Tap2 A G 17: 34,205,412 probably benign Het
Trim75 T C 8: 64,983,735 D21G possibly damaging Het
Vmn1r62 T A 7: 5,676,145 I275N probably damaging 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
IGL02664:Mllt3 APN 4 88031623 missense probably damaging 1.00
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 intron 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
Posted On2013-10-07