Incidental Mutation 'R9341:Mllt3'
ID 707482
Institutional Source Beutler Lab
Gene Symbol Mllt3
Ensembl Gene ENSMUSG00000028496
Gene Name myeloid/lymphoid or mixed-lineage leukemia; translocated to, 3
Synonyms Af9, 3830408D16Rik, 2210011H10Rik, D4Ertd321e, 2610012I03Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9341 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 87688162-87951601 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87792168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 109 (E109D)
Ref Sequence ENSEMBL: ENSMUSP00000077232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078090] [ENSMUST00000142454]
AlphaFold A2AM29
Predicted Effect possibly damaging
Transcript: ENSMUST00000078090
AA Change: E109D

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000077232
Gene: ENSMUSG00000028496
AA Change: E109D

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 probably benign
Transcript: ENSMUST00000142454
SMART Domains Protein: ENSMUSP00000127376
Gene: ENSMUSG00000028496

DomainStartEndE-ValueType
Pfam:YEATS 26 66 2.6e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (48/48)
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
Acat2 T C 17: 13,167,538 (GRCm39) N166S probably damaging Het
Agap2 G C 10: 126,927,559 (GRCm39) G1147R unknown Het
Atp8b2 A T 3: 89,855,811 (GRCm39) F446I possibly damaging Het
Cacna2d3 A T 14: 28,704,315 (GRCm39) M822K possibly damaging Het
Caskin1 A G 17: 24,723,447 (GRCm39) E745G probably damaging Het
Clec4a2 G T 6: 123,104,955 (GRCm39) A82S probably benign Het
Col5a3 T C 9: 20,704,909 (GRCm39) N749S unknown Het
Col9a2 T A 4: 120,911,483 (GRCm39) M608K probably benign Het
Cope T C 8: 70,761,228 (GRCm39) probably null Het
Dennd2d T A 3: 106,397,730 (GRCm39) probably null Het
Dpys T C 15: 39,656,748 (GRCm39) T440A possibly damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fbln5 G A 12: 101,737,551 (GRCm39) T152I probably damaging Het
Gm16503 A T 4: 147,625,508 (GRCm39) M1L unknown Het
Gm9195 A G 14: 72,717,500 (GRCm39) S278P probably damaging Het
Hmcn2 A G 2: 31,279,359 (GRCm39) N1787S probably benign Het
Klhl33 A G 14: 51,133,903 (GRCm39) probably null Het
Lrrk2 A G 15: 91,584,618 (GRCm39) D345G probably benign Het
Man2b2 A G 5: 36,975,951 (GRCm39) L368P probably damaging Het
Med23 T A 10: 24,788,705 (GRCm39) S1371T probably benign Het
Myom2 G A 8: 15,134,633 (GRCm39) D479N probably damaging Het
Or52r1c A T 7: 102,735,324 (GRCm39) R195* probably null Het
Pcdhga10 G T 18: 37,880,532 (GRCm39) A98S probably benign Het
Pde8a A T 7: 80,950,427 (GRCm39) Q221H probably benign Het
Pkd1l1 T C 11: 8,786,399 (GRCm39) H2335R Het
Pkd1l1 T A 11: 8,911,305 (GRCm39) D324V Het
Pou2f2 G A 7: 24,794,277 (GRCm39) T363I possibly damaging Het
Prlr A G 15: 10,328,988 (GRCm39) I488V probably benign Het
Psmd2 T C 16: 20,475,441 (GRCm39) probably null Het
Rbm7 T C 9: 48,400,969 (GRCm39) D253G probably damaging Het
Ros1 A G 10: 51,972,116 (GRCm39) probably null Het
S1pr3 G T 13: 51,573,553 (GRCm39) V245L probably damaging Het
Sacs A G 14: 61,446,219 (GRCm39) D2755G probably benign Het
Scgn T A 13: 24,173,829 (GRCm39) probably null Het
Sh3rf3 A G 10: 58,966,802 (GRCm39) K715E probably damaging Het
Sox18 T C 2: 181,312,231 (GRCm39) E300G probably damaging Het
Spef2 T A 15: 9,713,190 (GRCm39) N394I probably damaging Het
Strn4 T C 7: 16,573,827 (GRCm39) F759L probably damaging Het
Tas2r144 A T 6: 42,193,066 (GRCm39) I269F probably benign Het
Tpcn1 T C 5: 120,678,737 (GRCm39) D606G possibly damaging Het
Trh A G 6: 92,220,823 (GRCm39) I13T probably benign Het
Umodl1 T C 17: 31,217,701 (GRCm39) I1169T possibly damaging Het
Vwa3b G A 1: 37,153,615 (GRCm39) D486N probably damaging Het
Wars2 T C 3: 99,094,846 (GRCm39) L47P probably benign Het
Zbtb14 A G 17: 69,695,576 (GRCm39) S425G probably damaging Het
Zdhhc16 T C 19: 41,926,549 (GRCm39) S111P 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
IGL02664:Mllt3 APN 4 87,949,860 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGATCACATACTAGCAAGCAGG -3'
(R):5'- TGTTCACTTGAGAAATCAGGGG -3'

Sequencing Primer
(F):5'- TTCTAAAGTCCTCCGTGG -3'
(R):5'- TCGGTTTTCTCCTAACACAAATG -3'
Posted On 2022-04-18