Incidental Mutation 'IGL03372:L3mbtl1'
ID420366
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol L3mbtl1
Ensembl Gene ENSMUSG00000035576
Gene NameL3MBTL1 histone methyl-lysine binding protein
SynonymsL3MBTL1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03372
Quality Score
Status
Chromosome2
Chromosomal Location162943472-162974522 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 162971157 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000044038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035751]
Predicted Effect probably benign
Transcript: ENSMUST00000035751
SMART Domains Protein: ENSMUSP00000044038
Gene: ENSMUSG00000035576

DomainStartEndE-ValueType
low complexity region 234 242 N/A INTRINSIC
MBT 280 380 5.34e-53 SMART
MBT 388 487 2.17e-53 SMART
MBT 496 591 1.49e-51 SMART
Pfam:zf-C2HC 627 655 1.7e-17 PFAM
SAM 754 821 3.49e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153416
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 represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal nervous system phenotype, hematopoietic system phenotype, immune system phenotype, cellular phenotype, and lifespan. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C T 4: 130,017,569 A1161V probably benign Het
Alpi A G 1: 87,100,628 probably benign Het
Asxl1 A T 2: 153,400,413 N961I probably damaging Het
Bcl2l10 A G 9: 75,348,047 I49V probably benign Het
Bod1l T C 5: 41,805,235 probably benign Het
Ccl20 A G 1: 83,117,876 M54V probably benign Het
Cep72 A C 13: 74,043,518 L200V possibly damaging Het
Clic4 T C 4: 135,218,614 D164G probably damaging Het
Col5a3 G A 9: 20,775,328 P1334S unknown Het
Dab2 T C 15: 6,429,549 L293P probably damaging Het
Ddx50 A T 10: 62,643,330 S140T probably benign Het
Dnah6 A T 6: 73,075,850 M2897K probably benign Het
Dnmt3a A G 12: 3,902,666 E721G probably damaging Het
Esyt3 A T 9: 99,336,056 probably benign Het
Fat4 G T 3: 38,889,134 K725N possibly damaging Het
Fezf1 T C 6: 23,246,910 I308V probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gapdhs T C 7: 30,733,249 probably benign Het
Gm10109 A T 7: 44,221,702 probably benign Het
Gpd2 G A 2: 57,355,507 V405I probably damaging Het
Gtf2e1 T C 16: 37,535,715 probably benign Het
Iqca A G 1: 90,144,969 I63T possibly damaging Het
Kcmf1 A C 6: 72,849,563 L161R probably damaging Het
Kif19a G T 11: 114,779,218 V80L probably damaging Het
Kif21a A T 15: 90,956,376 M1179K probably benign Het
Krtap19-2 A G 16: 88,873,886 probably benign Het
Ksr2 T A 5: 117,702,718 I575N possibly damaging Het
Larp1b A T 3: 41,024,527 H6L possibly damaging Het
Map4k2 T A 19: 6,342,249 probably benign Het
Mdh1b T C 1: 63,719,995 H146R possibly damaging Het
Morc2a T C 11: 3,681,813 probably benign Het
Mvd A G 8: 122,443,374 probably benign Het
Myo7b C T 18: 31,998,601 S514N probably damaging Het
Nav1 A T 1: 135,450,903 I1610K probably damaging Het
Nbas T C 12: 13,534,472 L2095P probably damaging Het
Nrros T C 16: 32,144,770 N115S probably damaging Het
Olfr472 T C 7: 107,903,370 Y218H probably damaging Het
Otud6b A C 4: 14,812,519 I276R possibly damaging Het
P2rx6 G A 16: 17,567,492 E150K probably damaging Het
Pan2 T A 10: 128,315,127 L771Q probably benign Het
Pbrm1 T A 14: 31,085,019 N1087K probably benign Het
Pcdhb5 G T 18: 37,320,660 R31L probably benign Het
Proser3 A C 7: 30,543,568 S195A probably damaging Het
Rad50 T C 11: 53,695,294 K292E probably benign Het
Rbm27 G A 18: 42,305,716 R394H probably damaging Het
Samd9l A G 6: 3,375,314 I649T probably damaging Het
Skint3 G A 4: 112,255,906 probably benign Het
Slc4a4 T A 5: 89,156,426 L576Q probably damaging Het
Snx2 A G 18: 53,216,391 D408G probably damaging Het
Taar2 T C 10: 23,941,171 V203A probably benign Het
Tdrd6 C T 17: 43,625,568 V1530M probably damaging Het
Tsc2 A C 17: 24,619,470 L515R probably damaging Het
Unc13a A T 8: 71,655,709 M500K probably damaging Het
Vmn1r75 A G 7: 11,880,569 D76G probably benign Het
Whrn T C 4: 63,418,618 D127G probably damaging Het
Other mutations in L3mbtl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:L3mbtl1 APN 2 162967063 missense probably damaging 1.00
IGL01090:L3mbtl1 APN 2 162966005 missense probably damaging 1.00
IGL01291:L3mbtl1 APN 2 162970180 missense probably benign 0.30
IGL02897:L3mbtl1 APN 2 162965772 missense probably damaging 1.00
IGL02974:L3mbtl1 APN 2 162970183 missense possibly damaging 0.68
IGL02986:L3mbtl1 APN 2 162970305 missense probably damaging 1.00
IGL03057:L3mbtl1 APN 2 162967383 missense probably damaging 1.00
ANU05:L3mbtl1 UTSW 2 162970180 missense probably benign 0.30
R0006:L3mbtl1 UTSW 2 162964569 missense possibly damaging 0.94
R0006:L3mbtl1 UTSW 2 162964569 missense possibly damaging 0.94
R0067:L3mbtl1 UTSW 2 162948828 missense probably damaging 1.00
R0067:L3mbtl1 UTSW 2 162948828 missense probably damaging 1.00
R0078:L3mbtl1 UTSW 2 162947226 missense probably benign 0.12
R0505:L3mbtl1 UTSW 2 162947335 splice site probably benign
R0748:L3mbtl1 UTSW 2 162971163 splice site probably benign
R0748:L3mbtl1 UTSW 2 162971164 critical splice acceptor site probably null
R0761:L3mbtl1 UTSW 2 162966047 missense probably damaging 1.00
R1789:L3mbtl1 UTSW 2 162974502 missense probably benign
R1970:L3mbtl1 UTSW 2 162959572 missense probably damaging 1.00
R2114:L3mbtl1 UTSW 2 162960070 splice site probably null
R2115:L3mbtl1 UTSW 2 162960070 splice site probably null
R2116:L3mbtl1 UTSW 2 162960070 splice site probably null
R2117:L3mbtl1 UTSW 2 162960070 splice site probably null
R2513:L3mbtl1 UTSW 2 162967585 missense probably benign
R3848:L3mbtl1 UTSW 2 162948201 missense probably damaging 1.00
R4877:L3mbtl1 UTSW 2 162948568 missense probably damaging 0.98
R4930:L3mbtl1 UTSW 2 162965772 missense probably damaging 1.00
R5930:L3mbtl1 UTSW 2 162967336 small deletion probably benign
R5932:L3mbtl1 UTSW 2 162967336 small deletion probably benign
R6562:L3mbtl1 UTSW 2 162970204 missense probably benign 0.28
R6601:L3mbtl1 UTSW 2 162948175 start gained probably benign
R6995:L3mbtl1 UTSW 2 162961448 missense probably damaging 1.00
R7188:L3mbtl1 UTSW 2 162949540 critical splice donor site probably null
R7346:L3mbtl1 UTSW 2 162967006 missense probably benign 0.01
R7379:L3mbtl1 UTSW 2 162960979 missense probably damaging 1.00
R7474:L3mbtl1 UTSW 2 162966604 missense probably damaging 1.00
R7553:L3mbtl1 UTSW 2 162948231 missense probably benign 0.01
R7599:L3mbtl1 UTSW 2 162964514 missense possibly damaging 0.70
Posted On2016-08-02