Incidental Mutation 'IGL01074:Mllt3'
ID 50857
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 # IGL01074
Quality Score
Status
Chromosome 4
Chromosomal Location 87769925-88033364 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 87791881 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 29 (V29L)
Ref Sequence ENSEMBL: ENSMUSP00000128366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078090] [ENSMUST00000126353] [ENSMUST00000148059] [ENSMUST00000149357]
AlphaFold A2AM29
Predicted Effect probably benign
Transcript: ENSMUST00000078090
AA Change: V436L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077232
Gene: ENSMUSG00000028496
AA Change: V436L

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 unknown
Transcript: ENSMUST00000126353
AA Change: V29L
SMART Domains Protein: ENSMUSP00000129523
Gene: ENSMUSG00000028496
AA Change: V29L

DomainStartEndE-ValueType
low complexity region 6 24 N/A INTRINSIC
low complexity region 31 65 N/A INTRINSIC
PDB:2LM0|A 76 138 1e-29 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128930
Predicted Effect probably benign
Transcript: ENSMUST00000148059
SMART Domains Protein: ENSMUSP00000131095
Gene: ENSMUSG00000028496

DomainStartEndE-ValueType
PDB:2LM0|A 1 54 6e-34 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000149357
AA Change: V29L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000128366
Gene: ENSMUSG00000028496
AA Change: V29L

DomainStartEndE-ValueType
low complexity region 6 24 N/A INTRINSIC
low complexity region 31 65 N/A INTRINSIC
PDB:2LM0|A 76 162 4e-54 PDB
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 80,013,892 D1934G possibly damaging Het
Adcy2 A T 13: 68,796,654 I203N possibly damaging Het
Asxl3 T C 18: 22,522,845 V1304A probably damaging Het
Cmah A G 13: 24,464,255 D491G possibly damaging Het
Cobll1 A G 2: 65,107,848 S364P probably damaging Het
Cspg4 T C 9: 56,898,865 L2320P probably damaging Het
Defa5 T A 8: 21,297,576 F46L possibly damaging Het
Erich6b T A 14: 75,658,768 N31K probably benign Het
Fcrl6 C T 1: 172,599,113 V89M possibly damaging Het
Gm5458 G T 14: 19,599,692 L155I probably damaging Het
Hlx T C 1: 184,727,813 D376G probably damaging Het
Hmcn1 A G 1: 150,627,033 S3948P possibly damaging Het
Igf2bp2 G A 16: 22,063,704 R416W probably damaging Het
Lama4 T C 10: 39,098,488 probably null Het
Lingo4 T C 3: 94,403,288 V511A probably benign Het
Mmp16 T C 4: 18,110,584 probably benign Het
Moxd1 A G 10: 24,279,384 R228G probably benign Het
Myrfl T C 10: 116,779,585 N802S possibly damaging Het
Nmu C A 5: 76,343,927 V121F probably damaging Het
Npepps T C 11: 97,217,811 T760A probably damaging Het
Ogfod1 G T 8: 94,063,006 W445L probably damaging Het
Olfr1221 T C 2: 89,111,679 T278A probably benign Het
Oplah G A 15: 76,305,748 P222S probably damaging Het
Slc4a4 T A 5: 89,179,774 L699H probably damaging Het
Sod3 C T 5: 52,368,198 Q80* probably null Het
Syne2 C T 12: 76,031,587 Q4732* probably null Het
Syne2 T C 12: 75,987,011 I3678T probably benign Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tmem220 T C 11: 67,032,173 probably benign Het
Uhrf1bp1 A G 17: 27,879,291 I136V possibly damaging Het
Ush1c A G 7: 46,225,250 probably benign Het
Wbp2nl T C 15: 82,314,290 S343P possibly damaging Het
Other mutations in Mllt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01078:Mllt3 APN 4 87880060 splice site probably benign
IGL01337:Mllt3 APN 4 87840820 missense probably damaging 0.99
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 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 2013-06-21