Incidental Mutation 'R6237:Mllt11'
ID 504983
Institutional Source Beutler Lab
Gene Symbol Mllt11
Ensembl Gene ENSMUSG00000053192
Gene Name myeloid/lymphoid or mixed-lineage leukemia; translocated to, 11
Synonyms Af1q
MMRRC Submission 044362-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # R6237 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 95126446-95139482 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 95127602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 56 (T56K)
Ref Sequence ENSEMBL: ENSMUSP00000142604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065482] [ENSMUST00000107204] [ENSMUST00000107209] [ENSMUST00000136139] [ENSMUST00000196025] [ENSMUST00000198948]
AlphaFold P97783
Predicted Effect probably benign
Transcript: ENSMUST00000065482
AA Change: T56K

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000066448
Gene: ENSMUSG00000053192
AA Change: T56K

DomainStartEndE-ValueType
Pfam:AF1Q 1 65 2.6e-11 PFAM
internal_repeat_1 68 79 4.85e-5 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000070774
Predicted Effect probably benign
Transcript: ENSMUST00000107204
SMART Domains Protein: ENSMUSP00000102822
Gene: ENSMUSG00000038766

DomainStartEndE-ValueType
Blast:ANK 5 34 5e-11 BLAST
ANK 37 66 3.41e-3 SMART
ANK 70 99 1.18e-6 SMART
ANK 103 132 3.76e-5 SMART
ANK 136 166 1.48e3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107209
SMART Domains Protein: ENSMUSP00000102827
Gene: ENSMUSG00000038766

DomainStartEndE-ValueType
Blast:ANK 5 34 3e-10 BLAST
ANK 37 66 3.41e-3 SMART
ANK 70 99 1.18e-6 SMART
ANK 103 132 3.76e-5 SMART
ANK 136 165 1.1e2 SMART
low complexity region 280 292 N/A INTRINSIC
coiled coil region 310 362 N/A INTRINSIC
low complexity region 363 389 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136139
SMART Domains Protein: ENSMUSP00000121283
Gene: ENSMUSG00000038766

DomainStartEndE-ValueType
Blast:ANK 5 34 3e-10 BLAST
ANK 37 66 3.41e-3 SMART
ANK 70 99 1.18e-6 SMART
ANK 103 132 3.76e-5 SMART
ANK 136 165 1.1e2 SMART
low complexity region 280 292 N/A INTRINSIC
coiled coil region 310 362 N/A INTRINSIC
low complexity region 363 389 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145272
Predicted Effect probably benign
Transcript: ENSMUST00000196025
AA Change: T56K

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000143755
Gene: ENSMUSG00000053192
AA Change: T56K

DomainStartEndE-ValueType
Pfam:AF1Q 1 65 2.6e-11 PFAM
internal_repeat_1 68 79 4.85e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000198948
AA Change: T56K

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000142604
Gene: ENSMUSG00000053192
AA Change: T56K

DomainStartEndE-ValueType
Pfam:AF1Q 1 65 2.6e-11 PFAM
internal_repeat_1 68 79 4.85e-5 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181819
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155555
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene variously symbolized ALL1, HRX, or MLL located on 11q23 has been demonstrated to be fused with a number of translocation partners in cases of leukemia. t(1;11)(q21;q23) translocations that fused the MLL gene to a gene on chromosomal band 1q21 in 2 infants with acute myelomonocytic leukemia have been demonstrated. The N-terminal portion of the MLL gene is critical for leukemogenesis in translocations involving band 11q23. This gene encodes 90 amino acids. It was found to be highly expressed in the thymus but not in peripheral lymphoid tissues. In contrast to its restricted distribution in normal hematopoietic tissue, this gene was expressed in all leukemic cell lines tested. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad2 G A 8: 120,342,502 (GRCm39) R380H probably damaging Het
Akr1c12 C A 13: 4,325,767 (GRCm39) D109Y possibly damaging Het
Cacna1s A T 1: 136,033,582 (GRCm39) M1020L possibly damaging Het
Cbx8 C A 11: 118,931,213 (GRCm39) R25L possibly damaging Het
Ccdc87 A G 19: 4,891,407 (GRCm39) Y633C probably benign Het
Col4a4 C T 1: 82,484,752 (GRCm39) S505N unknown Het
Cr2 T A 1: 194,839,810 (GRCm39) H539L probably damaging Het
Cyp2b9 T A 7: 25,872,999 (GRCm39) D47E probably benign Het
Dnah3 A C 7: 119,608,607 (GRCm39) M1784R probably damaging Het
Dnah8 T A 17: 30,966,828 (GRCm39) L2520* probably null Het
E2f2 A G 4: 135,905,796 (GRCm39) E103G possibly damaging Het
Eef1akmt3 T A 10: 126,868,877 (GRCm39) H199L possibly damaging Het
Faxc A T 4: 21,993,376 (GRCm39) N340I possibly damaging Het
Fer1l6 A T 15: 58,497,026 (GRCm39) R1199* probably null Het
Fer1l6 A G 15: 58,509,855 (GRCm39) D1439G probably damaging Het
Galnt5 G T 2: 57,925,261 (GRCm39) W847C probably damaging Het
Gbp2 G A 3: 142,337,793 (GRCm39) S303N probably benign Het
Glipr1l1 A T 10: 111,896,332 (GRCm39) K40* probably null Het
Gm4353 A C 7: 115,683,134 (GRCm39) L149R possibly damaging Het
Grk5 A G 19: 61,078,380 (GRCm39) D479G probably damaging Het
Gzmc T A 14: 56,471,486 (GRCm39) probably null Het
Hace1 T C 10: 45,524,986 (GRCm39) Y251H probably benign Het
Hhla1 G T 15: 65,813,646 (GRCm39) P229T probably damaging Het
Hspa1l C T 17: 35,196,428 (GRCm39) Q156* probably null Het
Igkv4-78 A T 6: 69,036,683 (GRCm39) Y117N probably benign Het
Ikzf3 C A 11: 98,357,879 (GRCm39) R486L probably damaging Het
Itpr1 C T 6: 108,355,164 (GRCm39) T485M possibly damaging Het
Kcnab3 T C 11: 69,219,401 (GRCm39) Y131H probably benign Het
Kcnu1 C T 8: 26,422,362 (GRCm39) P209L probably benign Het
Klk1b8 T A 7: 43,448,094 (GRCm39) C39* probably null Het
Mbtps1 A G 8: 120,255,700 (GRCm39) L519P probably damaging Het
Mgat4a A G 1: 37,495,673 (GRCm39) I287T probably damaging Het
Mindy2 T C 9: 70,512,480 (GRCm39) E590G possibly damaging Het
Myo5b G A 18: 74,875,249 (GRCm39) R1551H probably damaging Het
Nmrk2 T C 10: 81,036,796 (GRCm39) T16A possibly damaging Het
Or2ab1 T A 11: 58,488,831 (GRCm39) F203Y probably damaging Het
Or7e170 G T 9: 19,795,365 (GRCm39) P79T probably damaging Het
Osbpl9 T C 4: 109,013,899 (GRCm39) D65G probably damaging Het
Phf2 T A 13: 48,957,131 (GRCm39) K1079* probably null Het
Plcb1 A G 2: 135,212,486 (GRCm39) S1026G possibly damaging Het
Pnrc2 A T 4: 135,599,397 (GRCm39) H117Q probably benign Het
Ppfia2 A T 10: 106,749,455 (GRCm39) I1114F probably damaging Het
Rpl12 G A 2: 32,853,000 (GRCm39) E72K probably benign Het
Sbf1 C T 15: 89,177,679 (GRCm39) R1642H probably benign Het
Sephs2 G A 7: 126,873,118 (GRCm39) probably benign Het
Slc35c2 A T 2: 165,122,617 (GRCm39) L194H probably damaging Het
Slfn4 T A 11: 83,079,938 (GRCm39) Y150N probably damaging Het
Srbd1 T C 17: 86,292,723 (GRCm39) R949G probably damaging Het
Urah T A 7: 140,415,618 (GRCm39) S28T probably damaging Het
Wdr62 A G 7: 29,941,860 (GRCm39) S649P probably damaging Het
Wnk1 C A 6: 119,929,728 (GRCm39) G1263V probably damaging Het
Zbtb4 C A 11: 69,669,069 (GRCm39) D114E possibly damaging Het
Other mutations in Mllt11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0738:Mllt11 UTSW 3 95,127,597 (GRCm39) nonsense probably null
R5708:Mllt11 UTSW 3 95,127,515 (GRCm39) missense probably benign 0.00
R7034:Mllt11 UTSW 3 95,127,744 (GRCm39) missense probably damaging 1.00
R7827:Mllt11 UTSW 3 95,127,548 (GRCm39) missense probably damaging 1.00
R9717:Mllt11 UTSW 3 95,127,521 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGGCAGATTCATCAGCACCAC -3'
(R):5'- TCATGAGGGACCCTGTAAGTAG -3'

Sequencing Primer
(F):5'- CCACCAGCACAATAGAGGGAAG -3'
(R):5'- GGACCCTGTAAGTAGCCAGTAC -3'
Posted On 2018-02-28