Incidental Mutation 'R4359:L3mbtl3'
ID 324813
Institutional Source Beutler Lab
Gene Symbol L3mbtl3
Ensembl Gene ENSMUSG00000039089
Gene Name L3MBTL3 histone methyl-lysine binding protein
Synonyms MBT-1
MMRRC Submission 041670-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4359 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 26150366-26251967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26203639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 397 (V397A)
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: V397A
SMART Domains Protein: ENSMUSP00000037619
Gene: ENSMUSG00000039089
AA Change: V397A

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: V372A
SMART Domains Protein: ENSMUSP00000101158
Gene: ENSMUSG00000039089
AA Change: V372A

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: V397A
SMART Domains Protein: ENSMUSP00000133479
Gene: ENSMUSG00000039089
AA Change: V397A

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G T 11: 9,247,629 (GRCm39) V2459F probably benign Het
Acot1 T C 12: 84,061,314 (GRCm39) Y207H probably damaging Het
Anapc1 A G 2: 128,465,476 (GRCm39) V1668A possibly damaging Het
Atr T A 9: 95,833,589 (GRCm39) I2613N probably damaging Het
Baz2b A G 2: 59,731,957 (GRCm39) I2027T possibly damaging Het
C2cd3 T G 7: 100,090,296 (GRCm39) H466Q probably damaging Het
Cdc14b T A 13: 64,396,225 (GRCm39) I15F probably benign Het
Cep135 G T 5: 76,759,561 (GRCm39) K438N possibly damaging Het
Cnot1 T C 8: 96,466,476 (GRCm39) D1587G probably damaging Het
Cxcl16 C A 11: 70,349,631 (GRCm39) V65L possibly damaging Het
Dhx36 T A 3: 62,382,699 (GRCm39) T783S probably benign Het
Disp3 T C 4: 148,356,389 (GRCm39) N157S probably benign Het
Efcab3 G T 11: 104,624,547 (GRCm39) probably null Het
Fem1al A T 11: 29,774,669 (GRCm39) S263T probably benign Het
Gfod2 T C 8: 106,444,177 (GRCm39) N122S possibly damaging Het
Grin3b T A 10: 79,808,731 (GRCm39) D160E probably benign Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Htr1b C A 9: 81,514,404 (GRCm39) A68S probably benign Het
Ifit2 A T 19: 34,550,544 (GRCm39) D28V possibly damaging Het
Ifna15 G T 4: 88,476,079 (GRCm39) T135N probably benign Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Kif24 A G 4: 41,413,827 (GRCm39) probably null Het
Klhl25 T C 7: 75,516,480 (GRCm39) V462A probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lpcat2 C A 8: 93,599,734 (GRCm39) P234Q probably benign Het
Lrp1b A C 2: 40,793,077 (GRCm39) C2532W probably damaging Het
Malt1 T C 18: 65,609,300 (GRCm39) V768A probably benign Het
Mindy3 A T 2: 12,401,020 (GRCm39) W233R probably damaging Het
Ncor1 T C 11: 62,249,736 (GRCm39) K1054R probably damaging Het
Nin T A 12: 70,061,712 (GRCm39) T2051S probably benign Het
Or10j5 C A 1: 172,784,647 (GRCm39) A95E probably benign Het
Or51ac3 A G 7: 103,213,742 (GRCm39) F248S probably benign Het
Pcsk1 T C 13: 75,260,838 (GRCm39) S354P possibly damaging Het
Pilra T C 5: 137,829,576 (GRCm39) T160A probably benign Het
Plekha5 G C 6: 140,537,414 (GRCm39) E540D probably benign Het
Prps2 T A X: 166,146,545 (GRCm39) K176* probably null Het
Rasgrf2 C A 13: 92,038,796 (GRCm39) D1017Y probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Spsb1 T C 4: 149,991,232 (GRCm39) H112R probably damaging Het
Srd5a3 T A 5: 76,295,547 (GRCm39) F79Y probably damaging Het
Stxbp4 C T 11: 90,385,470 (GRCm39) W506* probably null Het
Timeless C A 10: 128,083,211 (GRCm39) Q653K probably benign Het
Trio G A 15: 27,749,883 (GRCm39) Q1129* probably null Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zzef1 T A 11: 72,714,334 (GRCm39) S275T probably 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
R0468:L3mbtl3 UTSW 10 26,203,630 (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
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'- CGTCAGTCATAGTTAGAACTTTTGG -3'
(R):5'- CAATAGCGGTTCTAAATGAGGTG -3'

Sequencing Primer
(F):5'- AGTCATAGTTAGAACTTTTGGGCTTC -3'
(R):5'- AATGCCTGTCCTTGAAGCAG -3'
Posted On 2015-07-06