Incidental Mutation 'IGL02674:L3mbtl3'
ID303039
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 #IGL02674
Quality Score
Status
Chromosome10
Chromosomal Location26274468-26375971 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 26282813 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 646 (E646K)
Ref Sequence ENSEMBL: ENSMUSP00000133479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040219] [ENSMUST00000105519] [ENSMUST00000174766]
Predicted Effect unknown
Transcript: ENSMUST00000040219
AA Change: E646K
SMART Domains Protein: ENSMUSP00000037619
Gene: ENSMUSG00000039089
AA Change: E646K

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: E621K
SMART Domains Protein: ENSMUSP00000101158
Gene: ENSMUSG00000039089
AA Change: E621K

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: E646K
SMART Domains Protein: ENSMUSP00000133479
Gene: ENSMUSG00000039089
AA Change: E646K

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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 T C 15: 73,111,794 R689G probably damaging Het
Agrn C T 4: 156,174,561 probably benign Het
Akna A T 4: 63,370,944 C1247* probably null Het
Appl1 T G 14: 26,949,461 T345P possibly damaging Het
Ccdc129 A G 6: 55,897,928 T288A probably benign Het
Chga A G 12: 102,562,901 D379G probably damaging Het
Chrna6 C T 8: 27,406,851 A333T probably benign Het
Col14a1 G A 15: 55,418,782 G813E unknown Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnhd1 A G 7: 105,721,481 Q4656R probably benign Het
Dock9 A C 14: 121,595,611 probably null Het
Fat4 A G 3: 38,983,337 N3713D probably benign Het
Fsd1 A T 17: 55,996,483 T452S probably benign Het
G6pc2 A G 2: 69,226,566 probably null Het
Kcnh4 C A 11: 100,746,894 V646L possibly damaging Het
Kcnk1 T C 8: 126,025,014 Y120H probably damaging Het
Lrrc4c T C 2: 97,629,775 W249R probably damaging Het
Meox1 A T 11: 101,893,941 L22H probably damaging Het
Mrgpra4 C T 7: 47,980,942 V304M probably benign Het
Ncaph T C 2: 127,113,576 Y554C probably damaging Het
Nfx1 T C 4: 40,999,717 probably null Het
Olfr796 A C 10: 129,608,070 M137R possibly damaging Het
Olfr970 A G 9: 39,819,638 probably null Het
Otol1 C T 3: 70,018,744 P84L probably benign Het
Pcdhb11 T C 18: 37,423,614 S666P probably damaging Het
Pou2f3 T C 9: 43,139,333 K244R probably damaging Het
Ppp6r1 T C 7: 4,646,813 N51S probably damaging Het
Prdm4 A T 10: 85,893,399 L715M probably damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Rsc1a1 G T 4: 141,684,095 P502Q probably damaging Het
Senp1 T C 15: 98,056,959 E448G probably damaging Het
Shd A G 17: 55,971,554 D39G possibly damaging Het
Skint5 A C 4: 113,630,385 probably benign Het
Tmprss15 T G 16: 79,001,794 T667P possibly damaging Het
Tsta3 T C 15: 75,926,389 D178G probably damaging Het
Vps13b A T 15: 35,639,958 M1325L probably benign Het
Zfp263 T C 16: 3,746,765 probably benign Het
Zfp786 A G 6: 47,820,493 F504L probably benign 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
IGL01712:L3mbtl3 APN 10 26276235 missense probably damaging 0.96
IGL01759:L3mbtl3 APN 10 26331900 missense unknown
IGL01928:L3mbtl3 APN 10 26330245 missense unknown
IGL01955:L3mbtl3 APN 10 26318438 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
R7490:L3mbtl3 UTSW 10 26339231 missense unknown
Posted On2015-04-16