Incidental Mutation 'IGL01712:L3mbtl3'
ID104838
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol L3mbtl3
Ensembl Gene ENSMUSG00000039089
Gene NameL3MBTL3 histone methyl-lysine binding protein
SynonymsMBT-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01712
Quality Score
Status
Chromosome10
Chromosomal Location26274468-26375971 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 26276235 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 821 (M821K)
Ref Sequence ENSEMBL: ENSMUSP00000101158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040219] [ENSMUST00000060716] [ENSMUST00000105519] [ENSMUST00000174766] [ENSMUST00000220219]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040219
AA Change: M846K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000037619
Gene: ENSMUSG00000039089
AA Change: M846K

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 probably benign
Transcript: ENSMUST00000060716
SMART Domains Protein: ENSMUSP00000057805
Gene: ENSMUSG00000051354

DomainStartEndE-ValueType
SAM 1 66 3e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105519
AA Change: M821K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101158
Gene: ENSMUSG00000039089
AA Change: M821K

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 possibly damaging
Transcript: ENSMUST00000174766
AA Change: M846K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133479
Gene: ENSMUSG00000039089
AA Change: M846K

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: ENSMUST00000218585
Predicted Effect probably benign
Transcript: ENSMUST00000219738
Predicted Effect probably benign
Transcript: ENSMUST00000220219
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,826,279 V161A probably benign Het
Arhgdib G A 6: 136,924,197 T178M probably damaging Het
Atp11a T A 8: 12,851,138 I989K probably benign Het
Bcam T C 7: 19,758,767 S498G probably damaging Het
Bcas3 A G 11: 85,581,048 I728V probably damaging Het
Cep57 G T 9: 13,813,417 P119Q possibly damaging Het
Clip4 T A 17: 71,799,041 I73N probably damaging Het
Cpa4 A G 6: 30,590,816 D371G possibly damaging Het
Dnah7a A G 1: 53,423,270 S3721P probably benign Het
Fam166a T C 2: 25,218,792 probably benign Het
Fcrla T C 1: 170,921,623 probably null Het
Foxg1 T C 12: 49,385,620 S379P possibly damaging Het
Gatm T A 2: 122,600,825 Y227F possibly damaging Het
Gm8298 T A 3: 59,868,900 I164N possibly damaging Het
Grid2 A T 6: 64,665,915 D887V possibly damaging Het
Gtpbp6 A T 5: 110,104,379 I429N probably benign Het
Ighmbp2 A G 19: 3,273,038 probably benign Het
Irs4 T C X: 141,722,399 N934D unknown Het
Kif16b T A 2: 142,648,471 N1257I probably damaging Het
L1cam T C X: 73,864,438 Y169C probably damaging Het
Lig3 A G 11: 82,789,541 probably benign Het
Lpin2 T A 17: 71,215,068 D32E probably damaging Het
Mcoln3 T C 3: 146,128,264 probably benign Het
Mgst2 T C 3: 51,664,571 V40A probably damaging Het
Mov10l1 T C 15: 89,024,766 S997P probably damaging Het
Mycbpap G T 11: 94,512,655 H187Q possibly damaging Het
Olfr136 A T 17: 38,335,957 T267S probably benign Het
Olfr652 T C 7: 104,565,019 V266A probably benign Het
Onecut2 T A 18: 64,386,602 S478T probably damaging Het
Pcdhb5 A T 18: 37,321,253 I229F probably damaging Het
Pfas A G 11: 68,991,060 V933A probably benign Het
Phldb2 A T 16: 45,751,429 I1200N probably damaging Het
Pla2g4e C A 2: 120,189,403 probably null Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Rhot2 A G 17: 25,841,360 probably null Het
Serpina3f C T 12: 104,218,398 P267L probably damaging Het
Sppl2a C T 2: 126,904,903 probably benign Het
Tas2r122 A T 6: 132,711,762 M56K possibly damaging Het
Tbxas1 A G 6: 39,081,060 T450A probably benign Het
Tex16 T C X: 112,093,754 S87P probably damaging Het
Them7 T A 2: 105,378,885 F183L possibly damaging Het
Tmbim7 A G 5: 3,670,074 T116A probably damaging Het
Tomm40 G T 7: 19,703,363 S224R probably benign Het
Top3a A T 11: 60,761,736 I84N probably damaging Het
Vmn1r28 A G 6: 58,265,408 T79A probably benign Het
Vmn2r61 A T 7: 42,260,237 Y62F probably damaging Het
Zbtb42 T C 12: 112,680,284 C298R probably benign Het
Zfp395 G A 14: 65,386,387 E102K probably damaging Het
Other mutations in L3mbtl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:L3mbtl3 APN 10 26313846 critical splice donor site probably null
IGL01357:L3mbtl3 APN 10 26330185 missense unknown
IGL01759:L3mbtl3 APN 10 26331900 missense unknown
IGL01928:L3mbtl3 APN 10 26330245 missense unknown
IGL01955:L3mbtl3 APN 10 26318438 missense unknown
IGL02674:L3mbtl3 APN 10 26282813 missense unknown
IGL02731:L3mbtl3 APN 10 26344176 critical splice donor site probably null
IGL03188:L3mbtl3 APN 10 26342617 missense unknown
IGL03252:L3mbtl3 APN 10 26331812 splice site probably benign
IGL03298:L3mbtl3 APN 10 26282798 missense unknown
IGL03400:L3mbtl3 APN 10 26315526 missense unknown
R0121:L3mbtl3 UTSW 10 26313870 missense unknown
R0468:L3mbtl3 UTSW 10 26327732 missense unknown
R0497:L3mbtl3 UTSW 10 26282874 splice site probably benign
R0586:L3mbtl3 UTSW 10 26327834 missense unknown
R0633:L3mbtl3 UTSW 10 26302685 missense unknown
R0679:L3mbtl3 UTSW 10 26313933 nonsense probably null
R1302:L3mbtl3 UTSW 10 26327769 missense unknown
R2128:L3mbtl3 UTSW 10 26313868 missense unknown
R2267:L3mbtl3 UTSW 10 26331857 nonsense probably null
R3121:L3mbtl3 UTSW 10 26344221 intron probably benign
R3410:L3mbtl3 UTSW 10 26339299 missense unknown
R4237:L3mbtl3 UTSW 10 26340948 missense unknown
R4257:L3mbtl3 UTSW 10 26280122 missense unknown
R4308:L3mbtl3 UTSW 10 26282792 missense unknown
R4359:L3mbtl3 UTSW 10 26327741 missense unknown
R4407:L3mbtl3 UTSW 10 26313884 missense unknown
R4613:L3mbtl3 UTSW 10 26282795 missense unknown
R4663:L3mbtl3 UTSW 10 26337817 missense unknown
R4843:L3mbtl3 UTSW 10 26331879 missense unknown
R4886:L3mbtl3 UTSW 10 26292770 missense unknown
R5158:L3mbtl3 UTSW 10 26303688 missense unknown
R5247:L3mbtl3 UTSW 10 26327808 missense unknown
R5580:L3mbtl3 UTSW 10 26303706 missense unknown
R5966:L3mbtl3 UTSW 10 26331864 missense unknown
R6218:L3mbtl3 UTSW 10 26292747 missense unknown
R6508:L3mbtl3 UTSW 10 26318427 missense unknown
R6563:L3mbtl3 UTSW 10 26302863 intron probably null
R6709:L3mbtl3 UTSW 10 26282797 missense unknown
R6927:L3mbtl3 UTSW 10 26292669 nonsense probably null
R6984:L3mbtl3 UTSW 10 26282855 missense unknown
R7010:L3mbtl3 UTSW 10 26282861 critical splice acceptor site probably null
R7229:L3mbtl3 UTSW 10 26292662 missense unknown
R7231:L3mbtl3 UTSW 10 26339282 missense unknown
R7296:L3mbtl3 UTSW 10 26282830 missense unknown
R7363:L3mbtl3 UTSW 10 26340952 missense unknown
Posted On2014-01-21