Incidental Mutation 'IGL01357:L3mbtl3'
ID75580
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 #IGL01357
Quality Score
Status
Chromosome10
Chromosomal Location26274468-26375971 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 26330185 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 361 (N361I)
Ref Sequence ENSEMBL: ENSMUSP00000133479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040219] [ENSMUST00000105519] [ENSMUST00000174766]
Predicted Effect unknown
Transcript: ENSMUST00000040219
AA Change: N361I
SMART Domains Protein: ENSMUSP00000037619
Gene: ENSMUSG00000039089
AA Change: N361I

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: N336I
SMART Domains Protein: ENSMUSP00000101158
Gene: ENSMUSG00000039089
AA Change: N336I

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: N361I
SMART Domains Protein: ENSMUSP00000133479
Gene: ENSMUSG00000039089
AA Change: N361I

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik C A 8: 124,639,333 V224F probably damaging Het
Abca4 T A 3: 122,103,583 M637K probably damaging Het
Abca8a A G 11: 110,031,572 V1395A probably benign Het
Adam20 A C 8: 40,796,560 D569A probably benign Het
Axl A G 7: 25,774,169 L344P probably benign Het
B3gat1 T C 9: 26,756,987 L291P probably damaging Het
Cdc25c A T 18: 34,734,857 probably null Het
Crat A T 2: 30,407,724 Y263N probably damaging Het
Crb2 A G 2: 37,795,511 probably benign Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dnah7a A T 1: 53,662,381 V205D probably benign Het
Emsy A T 7: 98,590,870 Y1011* probably null Het
Fbln5 C T 12: 101,750,887 S414N probably damaging Het
Fev T C 1: 74,882,524 E89G possibly damaging Het
Fgg A G 3: 83,014,228 E406G possibly damaging Het
Glra1 A T 11: 55,514,889 M425K possibly damaging Het
Gm8214 C T 1: 183,681,932 noncoding transcript Het
Kdm3b A G 18: 34,793,014 E69G probably damaging Het
Kntc1 T A 5: 123,757,814 V89E probably damaging Het
Macrod2 A G 2: 142,384,330 N457S probably damaging Het
Mal C A 2: 127,640,314 M56I probably damaging Het
Mfsd5 C T 15: 102,281,447 T418M probably benign Het
Mmaa C A 8: 79,267,971 R402L probably benign Het
Myo15 T C 11: 60,502,289 probably benign Het
Nme1 A G 11: 93,959,491 S122P possibly damaging Het
Nxt1 A G 2: 148,675,396 E19G probably damaging Het
Nynrin A T 14: 55,870,417 T994S probably benign Het
Orc2 T G 1: 58,497,392 E56D probably benign Het
Orc2 T C 1: 58,497,393 E56G probably benign Het
Pid1 G A 1: 84,038,305 T113I probably damaging Het
Plcg2 G A 8: 117,614,161 probably benign Het
Rad50 A G 11: 53,707,021 V12A probably damaging Het
Serpinb9c C T 13: 33,151,879 V197I probably benign Het
Sfxn2 A T 19: 46,585,773 N134I probably damaging Het
Spen T C 4: 141,517,113 R204G unknown Het
Strip2 A G 6: 29,939,167 probably benign Het
Tas2r135 A T 6: 42,406,144 I206L probably benign Het
Tmem243 A G 5: 9,101,348 T11A probably damaging Het
Tmprss11c A G 5: 86,231,807 V401A probably damaging Het
Trim50 T A 5: 135,363,954 I241N probably damaging Het
Ttn A C 2: 76,951,520 S1015A possibly damaging Het
Wee1 T C 7: 110,142,035 S622P probably benign Het
Other mutations in L3mbtl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:L3mbtl3 APN 10 26313846 critical splice donor site probably null
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
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 splice site 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
R7775:L3mbtl3 UTSW 10 26352317 missense unknown
R7815:L3mbtl3 UTSW 10 26280378 missense unknown
R8272:L3mbtl3 UTSW 10 26303668 missense unknown
Z1177:L3mbtl3 UTSW 10 26280402 nonsense probably null
Z1177:L3mbtl3 UTSW 10 26302663 missense unknown
Posted On2013-10-07