Incidental Mutation 'R0393:L3mbtl2'
ID 65424
Institutional Source Beutler Lab
Gene Symbol L3mbtl2
Ensembl Gene ENSMUSG00000022394
Gene Name L3MBTL2 polycomb repressive complex 1 subunit
Synonyms 4732493N06Rik, m4mbt
MMRRC Submission 038599-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0393 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 81548090-81572516 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 81552942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 125 (A125V)
Ref Sequence ENSEMBL: ENSMUSP00000133967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023029] [ENSMUST00000172568] [ENSMUST00000172748] [ENSMUST00000174229]
AlphaFold P59178
Predicted Effect probably damaging
Transcript: ENSMUST00000023029
AA Change: A125V

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023029
Gene: ENSMUSG00000022394
AA Change: A125V

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
low complexity region 35 57 N/A INTRINSIC
PDB:2W0T|A 82 110 6e-14 PDB
low complexity region 111 126 N/A INTRINSIC
MBT 179 283 3.8e-26 SMART
MBT 291 391 9.68e-42 SMART
MBT 402 500 6.87e-24 SMART
MBT 508 604 2.57e-55 SMART
low complexity region 613 632 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172568
AA Change: A125V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172620
Predicted Effect probably damaging
Transcript: ENSMUST00000172748
AA Change: A125V

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134333
Gene: ENSMUSG00000022394
AA Change: A125V

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
low complexity region 35 57 N/A INTRINSIC
PDB:2W0T|A 82 110 1e-13 PDB
low complexity region 111 126 N/A INTRINSIC
MBT 179 283 3.8e-26 SMART
MBT 291 391 9.68e-42 SMART
MBT 402 500 6.87e-24 SMART
MBT 508 604 2.57e-55 SMART
low complexity region 613 632 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173105
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173607
Predicted Effect probably damaging
Transcript: ENSMUST00000174229
AA Change: A125V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133967
Gene: ENSMUSG00000022394
AA Change: A125V

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
low complexity region 35 57 N/A INTRINSIC
PDB:2W0T|A 82 110 8e-14 PDB
low complexity region 111 126 N/A INTRINSIC
MBT 179 283 3.8e-26 SMART
MBT 291 391 9.68e-42 SMART
MBT 402 500 6.87e-24 SMART
MBT 508 604 2.57e-55 SMART
low complexity region 613 632 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174274
Meta Mutation Damage Score 0.1642 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
Validation Efficiency 100% (59/59)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit failure of the inner cell mass to form a normal primitive ectoderm capable of gastrulation leading to abnormal embryo development, embryonic growth arrest, and lethality during organogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C T 6: 142,591,604 (GRCm39) probably benign Het
Akr1b7 T G 6: 34,392,335 (GRCm39) Y49* probably null Het
Ankrd10 G T 8: 11,685,482 (GRCm39) R46S possibly damaging Het
Atp13a5 A G 16: 29,085,681 (GRCm39) probably benign Het
Baz1a A G 12: 54,965,221 (GRCm39) probably null Het
Bicd2 C T 13: 49,533,346 (GRCm39) T644M probably damaging Het
Ccr9 A T 9: 123,609,035 (GRCm39) H239L probably benign Het
Cd180 A T 13: 102,842,408 (GRCm39) N485Y probably damaging Het
Ces1d T A 8: 93,919,400 (GRCm39) S131C probably damaging Het
Cnpy2 T A 10: 128,162,076 (GRCm39) S116R probably benign Het
Crym T C 7: 119,788,972 (GRCm39) K285R probably benign Het
Cyp2a4 A T 7: 26,012,293 (GRCm39) I359F possibly damaging Het
Cyp2b10 T A 7: 25,614,359 (GRCm39) probably benign Het
Dcpp3 A T 17: 24,136,925 (GRCm39) probably benign Het
Dnah8 T A 17: 30,927,364 (GRCm39) I1340K probably benign Het
Fbln1 T C 15: 85,111,277 (GRCm39) C144R probably damaging Het
Gm1553 T C 10: 82,328,010 (GRCm39) R66G unknown Het
Il10rb G A 16: 91,208,898 (GRCm39) V103I probably benign Het
Irak1bp1 T A 9: 82,728,614 (GRCm39) W182R probably benign Het
Kcna3 T C 3: 106,944,315 (GRCm39) S193P probably damaging Het
Kif14 C T 1: 136,410,156 (GRCm39) H628Y probably damaging Het
Krt31 A G 11: 99,941,079 (GRCm39) L77P probably damaging Het
Krt36 C T 11: 99,994,940 (GRCm39) A211T possibly damaging Het
Lmo7 A G 14: 102,137,892 (GRCm39) T743A probably benign Het
Lyst C T 13: 13,821,664 (GRCm39) T1346M probably benign Het
Mapkbp1 T A 2: 119,843,384 (GRCm39) probably null Het
Mif T C 10: 75,695,638 (GRCm39) D55G probably benign Het
Mlh3 G T 12: 85,314,361 (GRCm39) C608* probably null Het
Mlip A T 9: 77,146,859 (GRCm39) C85S probably benign Het
Mug1 T C 6: 121,826,809 (GRCm39) S211P possibly damaging Het
Mybl2 T A 2: 162,903,528 (GRCm39) probably benign Het
Myh8 C T 11: 67,196,843 (GRCm39) probably benign Het
Nanos1 A G 19: 60,745,368 (GRCm39) Y222C probably damaging Het
Or10ag52 A T 2: 87,044,037 (GRCm39) Y267F probably benign Het
Or2n1e G T 17: 38,585,774 (GRCm39) M37I probably benign Het
Or5d16 T C 2: 87,773,909 (GRCm39) D21G possibly damaging Het
Papolb A G 5: 142,515,211 (GRCm39) V144A probably damaging Het
Pctp A G 11: 89,876,945 (GRCm39) S185P probably benign Het
Plod1 A T 4: 148,003,298 (GRCm39) L509Q probably null Het
Ppp1r13b C A 12: 111,802,122 (GRCm39) M290I probably benign Het
Ralb G C 1: 119,405,856 (GRCm39) probably null Het
Rxylt1 T C 10: 121,931,841 (GRCm39) probably benign Het
Slc4a8 T A 15: 100,672,519 (GRCm39) D18E probably damaging Het
Speg A C 1: 75,400,568 (GRCm39) H2576P possibly damaging Het
Spock1 T C 13: 57,588,349 (GRCm39) D241G probably damaging Het
Tcam1 T A 11: 106,175,040 (GRCm39) V165E probably benign Het
Thbs1 T A 2: 117,943,472 (GRCm39) V30E possibly damaging Het
Tll2 A G 19: 41,077,265 (GRCm39) Y834H possibly damaging Het
Trpm6 G A 19: 18,756,008 (GRCm39) D84N probably damaging Het
Ubr1 T A 2: 120,737,427 (GRCm39) Q1039L probably damaging Het
Ubr4 A G 4: 139,138,171 (GRCm39) probably benign Het
Vmn1r74 T C 7: 11,581,242 (GRCm39) Y181H possibly damaging Het
Vmn2r13 T C 5: 109,304,395 (GRCm39) T679A probably benign Het
Vmn2r91 A T 17: 18,325,712 (GRCm39) Y110F probably damaging Het
Zbtb40 A C 4: 136,745,842 (GRCm39) S64A probably benign Het
Zfp184 T A 13: 22,131,252 (GRCm39) probably benign Het
Other mutations in L3mbtl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:L3mbtl2 APN 15 81,569,099 (GRCm39) missense possibly damaging 0.89
IGL01380:L3mbtl2 APN 15 81,555,326 (GRCm39) missense possibly damaging 0.75
IGL01479:L3mbtl2 APN 15 81,560,593 (GRCm39) missense probably benign 0.05
IGL02943:L3mbtl2 APN 15 81,570,456 (GRCm39) missense possibly damaging 0.56
IGL03406:L3mbtl2 APN 15 81,566,194 (GRCm39) missense probably damaging 1.00
PIT4431001:L3mbtl2 UTSW 15 81,560,508 (GRCm39) missense probably benign 0.32
R0394:L3mbtl2 UTSW 15 81,552,942 (GRCm39) missense probably damaging 1.00
R0449:L3mbtl2 UTSW 15 81,552,942 (GRCm39) missense probably damaging 1.00
R0565:L3mbtl2 UTSW 15 81,568,487 (GRCm39) splice site probably benign
R1263:L3mbtl2 UTSW 15 81,567,169 (GRCm39) missense probably benign 0.00
R1426:L3mbtl2 UTSW 15 81,560,518 (GRCm39) missense possibly damaging 0.95
R1542:L3mbtl2 UTSW 15 81,566,352 (GRCm39) missense probably null 0.45
R1556:L3mbtl2 UTSW 15 81,566,203 (GRCm39) missense probably benign 0.23
R1922:L3mbtl2 UTSW 15 81,559,822 (GRCm39) missense probably damaging 1.00
R2135:L3mbtl2 UTSW 15 81,566,215 (GRCm39) missense possibly damaging 0.94
R2237:L3mbtl2 UTSW 15 81,568,531 (GRCm39) missense probably benign
R4112:L3mbtl2 UTSW 15 81,566,170 (GRCm39) missense possibly damaging 0.90
R4577:L3mbtl2 UTSW 15 81,570,486 (GRCm39) missense probably benign
R4583:L3mbtl2 UTSW 15 81,569,107 (GRCm39) missense probably damaging 1.00
R4779:L3mbtl2 UTSW 15 81,566,813 (GRCm39) missense probably benign
R4787:L3mbtl2 UTSW 15 81,548,175 (GRCm39) utr 5 prime probably benign
R5448:L3mbtl2 UTSW 15 81,568,534 (GRCm39) missense possibly damaging 0.93
R5776:L3mbtl2 UTSW 15 81,569,072 (GRCm39) missense probably damaging 1.00
R6019:L3mbtl2 UTSW 15 81,571,143 (GRCm39) missense probably benign 0.00
R6058:L3mbtl2 UTSW 15 81,551,555 (GRCm39) missense probably benign
R6259:L3mbtl2 UTSW 15 81,566,128 (GRCm39) missense probably damaging 1.00
R7178:L3mbtl2 UTSW 15 81,555,275 (GRCm39) missense probably benign 0.00
R7311:L3mbtl2 UTSW 15 81,551,588 (GRCm39) missense possibly damaging 0.76
R8797:L3mbtl2 UTSW 15 81,569,615 (GRCm39) missense possibly damaging 0.61
R8857:L3mbtl2 UTSW 15 81,571,320 (GRCm39) missense unknown
R9035:L3mbtl2 UTSW 15 81,560,744 (GRCm39) intron probably benign
R9718:L3mbtl2 UTSW 15 81,572,123 (GRCm39) missense unknown
Predicted Primers
Posted On 2013-08-08