Incidental Mutation 'R0449:L3mbtl2'
ID 39556
Institutional Source Beutler Lab
Gene Symbol L3mbtl2
Ensembl Gene ENSMUSG00000022394
Gene Name L3MBTL2 polycomb repressive complex 1 subunit
Synonyms 4732493N06Rik, m4mbt
MMRRC Submission 038649-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0449 (G1)
Quality Score 225
Status Not 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: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,989,885 (GRCm39) R813* probably null Het
Accsl T A 2: 93,696,419 (GRCm39) I60F probably benign Het
Adam29 C T 8: 56,325,716 (GRCm39) G246D probably benign Het
Ankrd13c A G 3: 157,697,351 (GRCm39) I319V probably benign Het
Bag6 T G 17: 35,360,442 (GRCm39) V327G probably damaging Het
Barhl1 C T 2: 28,805,304 (GRCm39) A130T probably benign Het
Bend4 T C 5: 67,555,583 (GRCm39) D541G probably damaging Het
Birc6 A C 17: 74,999,290 (GRCm39) T4673P probably damaging Het
Ccdc81 T C 7: 89,539,679 (GRCm39) R186G probably damaging Het
Cdyl2 A G 8: 117,309,931 (GRCm39) F342L probably damaging Het
Chd3 C A 11: 69,248,367 (GRCm39) V748L probably damaging Het
CN725425 G T 15: 91,123,147 (GRCm39) R72I possibly damaging Het
Col22a1 A G 15: 71,834,520 (GRCm39) probably null Het
Cops3 A G 11: 59,709,243 (GRCm39) probably null Het
Ctnnd1 G T 2: 84,433,606 (GRCm39) Q940K possibly damaging Het
Dtnb C T 12: 3,641,971 (GRCm39) Q45* probably null Het
Efr3a T A 15: 65,714,553 (GRCm39) I280K probably damaging Het
Eml6 A C 11: 29,843,213 (GRCm39) V167G probably benign Het
Fam83c T A 2: 155,672,215 (GRCm39) M407L probably benign Het
Fasn T C 11: 120,701,894 (GRCm39) T1862A probably benign Het
Fbxl6 A G 15: 76,420,155 (GRCm39) I486T probably damaging Het
Gpr182 A G 10: 127,586,565 (GRCm39) Y129H probably damaging Het
Gpr75 A G 11: 30,842,456 (GRCm39) S454G probably damaging Het
Hectd4 G A 5: 121,502,653 (GRCm39) probably null Het
Hsf4 A G 8: 106,002,222 (GRCm39) T411A probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Il4 A T 11: 53,509,432 (GRCm39) M1K probably null Het
Ints11 G T 4: 155,972,405 (GRCm39) R463L probably benign Het
Ints4 G A 7: 97,178,430 (GRCm39) E677K probably damaging Het
Klk1b11 G A 7: 43,647,216 (GRCm39) C50Y probably damaging Het
Krt14 C A 11: 100,098,221 (GRCm39) G21C unknown Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lama3 A G 18: 12,633,569 (GRCm39) probably null Het
Lrrk2 T C 15: 91,634,478 (GRCm39) L1414P probably damaging Het
Matn2 T C 15: 34,428,687 (GRCm39) S684P probably damaging Het
Mga T A 2: 119,771,862 (GRCm39) V1574D probably damaging Het
Mia2 T C 12: 59,219,380 (GRCm39) probably null Het
Mrpl21 T A 19: 3,342,459 (GRCm39) probably benign Het
Msh5 T A 17: 35,260,458 (GRCm39) Q266L probably benign Het
Mybpc1 C A 10: 88,376,822 (GRCm39) C758F probably damaging Het
Myo15a G A 11: 60,400,422 (GRCm39) A2932T possibly damaging Het
Nbas T A 12: 13,569,109 (GRCm39) I2021K probably benign Het
Neurl4 T C 11: 69,796,393 (GRCm39) S424P probably damaging Het
Or10j5 T A 1: 172,784,965 (GRCm39) V201E probably damaging Het
Or2w3 A C 11: 58,556,789 (GRCm39) I135L probably benign Het
Or6c6 A G 10: 129,187,103 (GRCm39) M224V probably benign Het
Or7g17 T C 9: 18,767,945 (GRCm39) M8T probably benign Het
Or7g32 T A 9: 19,389,388 (GRCm39) I53F possibly damaging Het
Phlpp1 C T 1: 106,278,308 (GRCm39) R907W probably damaging Het
Pigg T C 5: 108,484,277 (GRCm39) V508A probably benign Het
Pkhd1l1 T G 15: 44,364,915 (GRCm39) Y685D probably damaging Het
Polr3a A T 14: 24,534,534 (GRCm39) I34N probably damaging Het
Pramel17 T C 4: 101,694,158 (GRCm39) S242G probably benign Het
Prex1 A G 2: 166,411,297 (GRCm39) V1434A probably benign Het
Ptprh T A 7: 4,601,005 (GRCm39) D124V probably damaging Het
Rad54b T A 4: 11,606,131 (GRCm39) I513N probably benign Het
Rbm12b1 A G 4: 12,145,507 (GRCm39) N493S probably benign Het
Rfx7 A T 9: 72,517,586 (GRCm39) probably null Het
Serpini1 A G 3: 75,520,648 (GRCm39) K82E probably benign Het
Slc27a6 T G 18: 58,742,237 (GRCm39) probably null Het
Slc35f2 G T 9: 53,724,201 (GRCm39) L358F probably damaging Het
Slc45a1 A C 4: 150,727,762 (GRCm39) I158M probably damaging Het
Slurp2 G A 15: 74,614,955 (GRCm39) P62L probably damaging Het
Sspo C T 6: 48,443,674 (GRCm39) H1949Y probably damaging Het
Tiam1 A T 16: 89,634,715 (GRCm39) V865E possibly damaging Het
Tlr4 A C 4: 66,757,857 (GRCm39) I217L probably damaging Het
Top1 C T 2: 160,554,628 (GRCm39) R460* probably null Het
Trpm3 T A 19: 22,965,418 (GRCm39) S1638T probably benign Het
Tubgcp5 C T 7: 55,473,315 (GRCm39) R798C probably benign Het
Vars1 T G 17: 35,231,703 (GRCm39) probably null Het
Xylt2 A G 11: 94,557,159 (GRCm39) Y111H probably benign Het
Zbed5 G A 5: 129,930,567 (GRCm39) G172D probably damaging Het
Zfp53 C T 17: 21,729,095 (GRCm39) T376I probably benign Het
Zfp937 G T 2: 150,081,466 (GRCm39) V499L probably benign Het
Zyx T A 6: 42,328,247 (GRCm39) L152Q probably damaging 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
R0393:L3mbtl2 UTSW 15 81,552,942 (GRCm39) missense probably damaging 1.00
R0394: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 PCR Primer
(F):5'- TCATGTGGATCTCCAGTCCCTTAGC -3'
(R):5'- GGGTCTCATGTACCTCAGATGACCTC -3'

Sequencing Primer
(F):5'- gaggggcagacacttgg -3'
(R):5'- CTCAGATGACCTCTAGGAATAAGTC -3'
Posted On 2013-05-23