Incidental Mutation 'IGL01759:L3mbtl3'
ID 153533
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol L3mbtl3
Ensembl Gene ENSMUSG00000039089
Gene Name L3MBTL3 histone methyl-lysine binding protein
Synonyms MBT-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01759
Quality Score
Status
Chromosome 10
Chromosomal Location 26150366-26251967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26207798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 307 (F307S)
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: F307S
SMART Domains Protein: ENSMUSP00000037619
Gene: ENSMUSG00000039089
AA Change: F307S

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: F282S
SMART Domains Protein: ENSMUSP00000101158
Gene: ENSMUSG00000039089
AA Change: F282S

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: F307S
SMART Domains Protein: ENSMUSP00000133479
Gene: ENSMUSG00000039089
AA Change: F307S

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 noncoding transcript
Transcript: ENSMUST00000217699
Coding Region Coverage
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 A T 11: 95,726,625 (GRCm39) D150E probably damaging Het
Akr1c14 T A 13: 4,131,139 (GRCm39) I277N probably damaging Het
Ap1b1 C T 11: 4,969,433 (GRCm39) T263I probably damaging Het
Atp6v0d2 C A 4: 19,878,335 (GRCm39) V313L probably damaging Het
Car2 G A 3: 14,960,688 (GRCm39) probably null Het
Cdh17 T A 4: 11,771,262 (GRCm39) probably benign Het
Cep295 A G 9: 15,234,855 (GRCm39) probably null Het
Cep97 T C 16: 55,750,936 (GRCm39) K27E probably damaging Het
Cops5 A T 1: 10,097,474 (GRCm39) N258K probably damaging Het
Dchs1 T A 7: 105,404,509 (GRCm39) T2678S probably benign Het
Dnah10 T A 5: 124,832,850 (GRCm39) F861Y probably benign Het
Dock10 T C 1: 80,503,990 (GRCm39) E1777G probably damaging Het
Dock5 G A 14: 68,118,708 (GRCm39) Q23* probably null Het
Ermp1 T C 19: 29,593,236 (GRCm39) K752R probably benign Het
Fhip1a A C 3: 85,595,754 (GRCm39) I377S probably damaging Het
Gjd2 T A 2: 113,841,587 (GRCm39) I297L probably benign Het
Gm1123 T C 9: 98,905,307 (GRCm39) M68V probably benign Het
Gm28372 C T 2: 130,248,818 (GRCm39) R59W probably damaging Het
Gm9912 A C 3: 148,891,074 (GRCm39) F20V unknown Het
Gpat2 T C 2: 127,272,816 (GRCm39) F176S possibly damaging Het
Gpr150 T C 13: 76,203,784 (GRCm39) H387R possibly damaging Het
Gpr20 T A 15: 73,568,269 (GRCm39) D40V probably damaging Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Jakmip3 A T 7: 138,622,633 (GRCm39) Q331L probably damaging Het
Kif5b A G 18: 6,225,647 (GRCm39) V179A probably damaging Het
Kif5b A T 18: 6,211,019 (GRCm39) probably benign Het
Krt14 A T 11: 100,095,242 (GRCm39) probably benign Het
Laptm4a T C 12: 8,984,687 (GRCm39) probably benign Het
Marveld3 T C 8: 110,674,719 (GRCm39) S366G possibly damaging Het
Mga C A 2: 119,781,676 (GRCm39) T2234K possibly damaging Het
Mkrn2os T C 6: 115,569,292 (GRCm39) N54S probably benign Het
Mras T C 9: 99,293,548 (GRCm39) I31V probably damaging Het
Myh1 A G 11: 67,110,732 (GRCm39) D1518G probably damaging Het
Myoz2 A T 3: 122,807,430 (GRCm39) Y127N possibly damaging Het
Nhlrc1 C A 13: 47,167,438 (GRCm39) W273L probably benign Het
Nol9 C T 4: 152,130,500 (GRCm39) probably benign Het
Nrxn2 T C 19: 6,559,959 (GRCm39) V1206A probably damaging Het
Or2ag1b T C 7: 106,288,540 (GRCm39) T133A probably benign Het
Or5k16 A T 16: 58,736,291 (GRCm39) F238I probably damaging Het
Or6c5 T A 10: 129,074,941 (GRCm39) F308I probably benign Het
Or6f2 T C 7: 139,756,447 (GRCm39) I138T probably benign Het
Or8g2b T A 9: 39,750,907 (GRCm39) M59K probably damaging Het
Pappa T C 4: 65,123,395 (GRCm39) probably null Het
Pfkl A G 10: 77,836,565 (GRCm39) S151P probably damaging Het
Pgbd5 C T 8: 125,111,118 (GRCm39) G191D probably damaging Het
Pikfyve T C 1: 65,292,512 (GRCm39) V1276A probably benign Het
Pla2g4c T A 7: 13,082,241 (GRCm39) Y486N probably damaging Het
Rasal2 C A 1: 157,003,502 (GRCm39) V386L probably benign Het
S1pr3 G A 13: 51,573,548 (GRCm39) R243Q probably damaging Het
Slc44a4 A G 17: 35,140,219 (GRCm39) D208G probably benign Het
Slc6a4 T C 11: 76,904,114 (GRCm39) S190P probably damaging Het
Snapc5 A T 9: 64,087,779 (GRCm39) probably null Het
Tbc1d14 C A 5: 36,728,913 (GRCm39) R151L probably damaging Het
Tecpr2 T A 12: 110,897,826 (GRCm39) probably benign Het
Tmem219 G A 7: 126,496,310 (GRCm39) P44L probably damaging Het
Ube2e1 T C 14: 18,330,951 (GRCm38) R51G probably null Het
Ugp2 T C 11: 21,303,447 (GRCm39) K53E probably benign Het
Vmn1r214 T C 13: 23,218,662 (GRCm39) I52T probably benign Het
Vmn2r124 C T 17: 18,284,330 (GRCm39) T457I probably benign Het
Vps13b A G 15: 35,878,935 (GRCm39) E2978G probably damaging Het
Zfr A G 15: 12,159,741 (GRCm39) D679G probably damaging Het
Zhx3 T C 2: 160,622,634 (GRCm39) N511S 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
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
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
Posted On 2014-02-04