Incidental Mutation 'R0468:L3mbtl3'
ID 41755
Institutional Source Beutler Lab
Gene Symbol L3mbtl3
Ensembl Gene ENSMUSG00000039089
Gene Name L3MBTL3 histone methyl-lysine binding protein
Synonyms MBT-1
MMRRC Submission 038668-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0468 (G1)
Quality Score 223
Status Validated
Chromosome 10
Chromosomal Location 26150366-26251967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 26203630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 400 (R400H)
Ref Sequence ENSEMBL: ENSMUSP00000133479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040219] [ENSMUST00000105519] [ENSMUST00000174766]
AlphaFold Q8BLB7
Predicted Effect unknown
Transcript: ENSMUST00000040219
AA Change: R400H
SMART Domains Protein: ENSMUSP00000037619
Gene: ENSMUSG00000039089
AA Change: R400H

DomainStartEndE-ValueType
low complexity region 154 166 N/A INTRINSIC
low complexity region 204 214 N/A INTRINSIC
MBT 232 332 3.75e-48 SMART
MBT 340 439 3.67e-42 SMART
MBT 448 543 7.5e-48 SMART
low complexity region 604 615 N/A INTRINSIC
low complexity region 662 770 N/A INTRINSIC
SAM 808 875 2.49e-13 SMART
Predicted Effect unknown
Transcript: ENSMUST00000105519
AA Change: R375H
SMART Domains Protein: ENSMUSP00000101158
Gene: ENSMUSG00000039089
AA Change: R375H

DomainStartEndE-ValueType
low complexity region 129 141 N/A INTRINSIC
low complexity region 179 189 N/A INTRINSIC
MBT 207 307 3.75e-48 SMART
MBT 315 414 3.67e-42 SMART
MBT 423 518 7.5e-48 SMART
low complexity region 579 590 N/A INTRINSIC
low complexity region 637 745 N/A INTRINSIC
SAM 783 850 2.49e-13 SMART
Predicted Effect unknown
Transcript: ENSMUST00000174766
AA Change: R400H
SMART Domains Protein: ENSMUSP00000133479
Gene: ENSMUSG00000039089
AA Change: R400H

DomainStartEndE-ValueType
low complexity region 154 166 N/A INTRINSIC
low complexity region 204 214 N/A INTRINSIC
MBT 232 332 3.75e-48 SMART
MBT 340 439 3.67e-42 SMART
MBT 448 543 7.5e-48 SMART
low complexity region 604 615 N/A INTRINSIC
low complexity region 662 770 N/A INTRINSIC
SAM 808 875 2.49e-13 SMART
Meta Mutation Damage Score 0.4655 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a null mutation die between E17.5 ? 19.5 due to disturbed erythropoiesis which result in anemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,240,084 (GRCm39) H1298R possibly damaging Het
5530400C23Rik T C 6: 133,271,421 (GRCm39) L155P probably benign Het
6820408C15Rik A T 2: 152,283,186 (GRCm39) R283S probably benign Het
Aldh1l2 T A 10: 83,354,542 (GRCm39) E104D probably benign Het
Anxa3 T C 5: 96,958,958 (GRCm39) V22A probably benign Het
Bcl7b T C 5: 135,209,737 (GRCm39) F188L probably benign Het
Brinp1 T A 4: 68,681,013 (GRCm39) I506F probably damaging Het
Bsdc1 T C 4: 129,355,511 (GRCm39) probably benign Het
Ccdc180 T C 4: 45,923,271 (GRCm39) I1075T possibly damaging Het
Cep162 A G 9: 87,075,750 (GRCm39) L1294P probably damaging Het
Cltc G A 11: 86,595,452 (GRCm39) probably benign Het
Col11a1 T C 3: 114,010,707 (GRCm39) probably benign Het
Col14a1 A T 15: 55,252,042 (GRCm39) Y566F unknown Het
Dhx29 A G 13: 113,099,811 (GRCm39) Q1148R probably benign Het
Ehbp1 A G 11: 22,119,184 (GRCm39) probably benign Het
Ehd3 A G 17: 74,112,374 (GRCm39) H46R probably damaging Het
Fam171a1 T C 2: 3,226,433 (GRCm39) V522A probably benign Het
Gm4553 C A 7: 141,719,362 (GRCm39) C22F unknown Het
Hibadh C T 6: 52,534,755 (GRCm39) probably benign Het
Hspg2 G A 4: 137,260,840 (GRCm39) C1613Y probably damaging Het
Hydin G T 8: 111,139,855 (GRCm39) C708F possibly damaging Het
Ifi208 A T 1: 173,511,047 (GRCm39) M401L probably benign Het
Igsf8 G A 1: 172,146,363 (GRCm39) V454M probably damaging Het
Irx4 G T 13: 73,414,839 (GRCm39) probably benign Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kcnn2 C T 18: 45,692,538 (GRCm39) T38M possibly damaging Het
Lrp6 T C 6: 134,462,624 (GRCm39) T679A possibly damaging Het
Map9 T C 3: 82,281,510 (GRCm39) probably null Het
Men1 T A 19: 6,386,953 (GRCm39) V5E probably null Het
Mettl14 T C 3: 123,165,061 (GRCm39) D93G probably damaging Het
Neb G T 2: 52,101,568 (GRCm39) R4601S probably damaging Het
Nell1 A G 7: 49,878,594 (GRCm39) T272A probably damaging Het
Or10ag53 A T 2: 87,082,599 (GRCm39) N106I probably benign Het
Or2ak6 A T 11: 58,592,619 (GRCm39) I31F probably damaging Het
Pclo C A 5: 14,727,302 (GRCm39) probably benign Het
Pdia5 A G 16: 35,217,877 (GRCm39) L502P probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Plxna4 C A 6: 32,192,181 (GRCm39) C803F probably damaging Het
Pmfbp1 A G 8: 110,240,600 (GRCm39) probably null Het
Ptgs1 A G 2: 36,139,205 (GRCm39) Y468C probably damaging Het
Pxdn G T 12: 30,044,485 (GRCm39) G488W probably damaging Het
Safb C T 17: 56,913,025 (GRCm39) R914C probably damaging Het
Sec31b T A 19: 44,506,947 (GRCm39) probably benign Het
Shank3 G A 15: 89,433,478 (GRCm39) V1333I probably benign Het
Slamf1 A G 1: 171,619,939 (GRCm39) probably benign Het
Slc23a3 T A 1: 75,109,874 (GRCm39) Q131L possibly damaging Het
Slc7a11 A G 3: 50,338,500 (GRCm39) V303A probably damaging Het
Slc7a13 T A 4: 19,841,500 (GRCm39) V449D probably benign Het
Srp68 A T 11: 116,139,590 (GRCm39) I453K probably damaging Het
Steap3 A T 1: 120,162,030 (GRCm39) V414D probably damaging Het
Tagln2 A G 1: 172,333,788 (GRCm39) N131D probably benign Het
Tmem132d T C 5: 128,346,267 (GRCm39) Y85C probably damaging Het
Vcam1 A T 3: 115,909,595 (GRCm39) Y577* probably null Het
Vmn1r214 A G 13: 23,219,423 (GRCm39) T306A probably benign Het
Zfyve1 A T 12: 83,602,048 (GRCm39) probably benign Het
Zgrf1 T A 3: 127,355,690 (GRCm39) N305K possibly damaging Het
Other mutations in L3mbtl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:L3mbtl3 APN 10 26,189,744 (GRCm39) critical splice donor site probably null
IGL01357:L3mbtl3 APN 10 26,206,083 (GRCm39) missense unknown
IGL01712:L3mbtl3 APN 10 26,152,133 (GRCm39) missense probably damaging 0.96
IGL01759:L3mbtl3 APN 10 26,207,798 (GRCm39) missense unknown
IGL01928:L3mbtl3 APN 10 26,206,143 (GRCm39) missense unknown
IGL01955:L3mbtl3 APN 10 26,194,336 (GRCm39) missense unknown
IGL02674:L3mbtl3 APN 10 26,158,711 (GRCm39) missense unknown
IGL02731:L3mbtl3 APN 10 26,220,074 (GRCm39) critical splice donor site probably null
IGL03188:L3mbtl3 APN 10 26,218,515 (GRCm39) missense unknown
IGL03252:L3mbtl3 APN 10 26,207,710 (GRCm39) splice site probably benign
IGL03298:L3mbtl3 APN 10 26,158,696 (GRCm39) missense unknown
IGL03400:L3mbtl3 APN 10 26,191,424 (GRCm39) missense unknown
R0121:L3mbtl3 UTSW 10 26,189,768 (GRCm39) missense unknown
R0497:L3mbtl3 UTSW 10 26,158,772 (GRCm39) splice site probably benign
R0586:L3mbtl3 UTSW 10 26,203,732 (GRCm39) missense unknown
R0633:L3mbtl3 UTSW 10 26,178,583 (GRCm39) missense unknown
R0679:L3mbtl3 UTSW 10 26,189,831 (GRCm39) nonsense probably null
R1302:L3mbtl3 UTSW 10 26,203,667 (GRCm39) missense unknown
R2128:L3mbtl3 UTSW 10 26,189,766 (GRCm39) missense unknown
R2267:L3mbtl3 UTSW 10 26,207,755 (GRCm39) nonsense probably null
R3121:L3mbtl3 UTSW 10 26,220,119 (GRCm39) intron probably benign
R3410:L3mbtl3 UTSW 10 26,215,197 (GRCm39) missense unknown
R4237:L3mbtl3 UTSW 10 26,216,846 (GRCm39) missense unknown
R4257:L3mbtl3 UTSW 10 26,156,020 (GRCm39) missense unknown
R4308:L3mbtl3 UTSW 10 26,158,690 (GRCm39) missense unknown
R4359:L3mbtl3 UTSW 10 26,203,639 (GRCm39) missense unknown
R4407:L3mbtl3 UTSW 10 26,189,782 (GRCm39) missense unknown
R4613:L3mbtl3 UTSW 10 26,158,693 (GRCm39) missense unknown
R4663:L3mbtl3 UTSW 10 26,213,715 (GRCm39) missense unknown
R4843:L3mbtl3 UTSW 10 26,207,777 (GRCm39) missense unknown
R4886:L3mbtl3 UTSW 10 26,168,668 (GRCm39) missense unknown
R5158:L3mbtl3 UTSW 10 26,179,586 (GRCm39) missense unknown
R5247:L3mbtl3 UTSW 10 26,203,706 (GRCm39) missense unknown
R5580:L3mbtl3 UTSW 10 26,179,604 (GRCm39) missense unknown
R5966:L3mbtl3 UTSW 10 26,207,762 (GRCm39) missense unknown
R6218:L3mbtl3 UTSW 10 26,168,645 (GRCm39) missense unknown
R6508:L3mbtl3 UTSW 10 26,194,325 (GRCm39) missense unknown
R6563:L3mbtl3 UTSW 10 26,178,761 (GRCm39) splice site probably null
R6709:L3mbtl3 UTSW 10 26,158,695 (GRCm39) missense unknown
R6927:L3mbtl3 UTSW 10 26,168,567 (GRCm39) nonsense probably null
R6984:L3mbtl3 UTSW 10 26,158,753 (GRCm39) missense unknown
R7010:L3mbtl3 UTSW 10 26,158,759 (GRCm39) critical splice acceptor site probably null
R7229:L3mbtl3 UTSW 10 26,168,560 (GRCm39) missense unknown
R7231:L3mbtl3 UTSW 10 26,215,180 (GRCm39) missense unknown
R7296:L3mbtl3 UTSW 10 26,158,728 (GRCm39) missense unknown
R7363:L3mbtl3 UTSW 10 26,216,850 (GRCm39) missense unknown
R7490:L3mbtl3 UTSW 10 26,215,129 (GRCm39) missense unknown
R7775:L3mbtl3 UTSW 10 26,228,215 (GRCm39) missense unknown
R7815:L3mbtl3 UTSW 10 26,156,276 (GRCm39) missense unknown
R8272:L3mbtl3 UTSW 10 26,179,566 (GRCm39) missense unknown
R8762:L3mbtl3 UTSW 10 26,152,121 (GRCm39) missense probably damaging 1.00
R8925:L3mbtl3 UTSW 10 26,220,084 (GRCm39) missense unknown
R8927:L3mbtl3 UTSW 10 26,220,084 (GRCm39) missense unknown
R9043:L3mbtl3 UTSW 10 26,156,152 (GRCm39) missense unknown
R9228:L3mbtl3 UTSW 10 26,212,155 (GRCm39) missense unknown
Z1177:L3mbtl3 UTSW 10 26,178,561 (GRCm39) missense unknown
Z1177:L3mbtl3 UTSW 10 26,156,300 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACGTCAGTCATAGTTAGAACTTTTGGGC -3'
(R):5'- AGGTGACCTACTTTCTTGAGCGAGT -3'

Sequencing Primer
(F):5'- GAACTTTTGGGCTTCTTATGAACTTC -3'
(R):5'- AGCCATGTGTTGACTCAGAC -3'
Posted On 2013-05-23