Incidental Mutation 'R7188:L3mbtl1'
ID 559409
Institutional Source Beutler Lab
Gene Symbol L3mbtl1
Ensembl Gene ENSMUSG00000035576
Gene Name L3MBTL1 histone methyl-lysine binding protein
Synonyms L3MBTL1
MMRRC Submission 045272-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7188 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 162785392-162816442 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 162791460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000044038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035751] [ENSMUST00000035751] [ENSMUST00000124264] [ENSMUST00000156954]
AlphaFold A2A5N8
Predicted Effect probably null
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 probably null
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 probably benign
Transcript: ENSMUST00000124264
SMART Domains Protein: ENSMUSP00000116118
Gene: ENSMUSG00000035576

DomainStartEndE-ValueType
low complexity region 107 115 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156954
SMART Domains Protein: ENSMUSP00000123217
Gene: ENSMUSG00000035576

DomainStartEndE-ValueType
low complexity region 234 242 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,554,600 (GRCm39) Y118C possibly damaging Het
Abcb6 A G 1: 75,150,781 (GRCm39) probably null Het
Acox2 T A 14: 8,252,996 (GRCm38) I236L possibly damaging Het
Adamts12 A T 15: 11,336,411 (GRCm39) K1499* probably null Het
Ankrd24 G T 10: 81,472,224 (GRCm39) E20* probably null Het
Arsa A T 15: 89,359,830 (GRCm39) Y32* probably null Het
Atp9b A G 18: 80,961,041 (GRCm39) S57P Het
Atr G T 9: 95,744,844 (GRCm39) E54* probably null Het
Bace1 A G 9: 45,767,393 (GRCm39) D192G probably benign Het
Bltp1 A T 3: 37,004,162 (GRCm39) T1624S probably benign Het
Bltp3b T C 10: 89,615,744 (GRCm39) V129A probably damaging Het
Cacna1d T C 14: 29,811,790 (GRCm39) S1309G probably benign Het
Cd177 G T 7: 24,456,072 (GRCm39) T232K probably damaging Het
Chil4 T A 3: 106,111,475 (GRCm39) D213V probably damaging Het
Cmya5 A T 13: 93,182,546 (GRCm39) I3538N probably damaging Het
Cyp26a1 T A 19: 37,687,753 (GRCm39) M287K possibly damaging Het
Dcaf5 T C 12: 80,446,732 (GRCm39) D129G probably damaging Het
Dnah12 A C 14: 26,536,370 (GRCm39) K2095N probably benign Het
Dnpep G A 1: 75,292,701 (GRCm39) S106L probably damaging Het
Dock2 C T 11: 34,189,675 (GRCm39) E1499K possibly damaging Het
Dus4l A G 12: 31,696,714 (GRCm39) F88L probably damaging Het
Fcrl2 A C 3: 87,166,830 (GRCm39) D54E probably benign Het
Fign T A 2: 63,809,950 (GRCm39) H440L possibly damaging Het
Gabpa A G 16: 84,643,174 (GRCm39) D157G probably damaging Het
Gapdh T A 6: 125,142,403 (GRCm39) probably benign Het
Gbp8 G T 5: 105,164,081 (GRCm39) R406S probably benign Het
Gm21775 A G Y: 10,553,894 (GRCm39) R148G possibly damaging Het
Gm28363 G A 1: 117,626,579 (GRCm39) V6I unknown Het
Gmps A G 3: 63,918,982 (GRCm39) D522G probably damaging Het
Gpr75 T C 11: 30,842,687 (GRCm39) S531P probably damaging Het
Hars2 G T 18: 36,923,614 (GRCm39) E468D probably benign Het
Jph4 C A 14: 55,352,664 (GRCm39) R23L probably damaging Het
Kctd12 T A 14: 103,219,230 (GRCm39) Y216F probably benign Het
Lama4 G A 10: 38,841,729 (GRCm39) probably benign Het
Lyst T A 13: 13,926,675 (GRCm39) S3494T possibly damaging Het
Mybpc2 A G 7: 44,155,617 (GRCm39) S879P probably benign Het
Ncaph C T 2: 126,964,034 (GRCm39) V304M probably benign Het
Noto A T 6: 85,405,047 (GRCm39) I229F possibly damaging Het
Or10n7-ps1 T C 9: 39,597,731 (GRCm39) M170V unknown Het
Or4c29 T C 2: 88,740,203 (GRCm39) D178G probably damaging Het
Or8k25 T A 2: 86,243,695 (GRCm39) K234* probably null Het
Pald1 A T 10: 61,182,845 (GRCm39) V368E probably damaging Het
Pde9a T A 17: 31,678,071 (GRCm39) M217K probably damaging Het
Pira1 A T 7: 3,741,828 (GRCm39) V184E probably damaging Het
Pitpnm2 G T 5: 124,259,366 (GRCm39) A1323E probably benign Het
Ppp1r3a T C 6: 14,719,190 (GRCm39) S575G probably benign Het
Prok1 T C 3: 107,146,941 (GRCm39) I9V probably benign Het
Ptprc A T 1: 137,998,918 (GRCm39) V905D probably damaging Het
Rbm25 G T 12: 83,710,772 (GRCm39) G295V unknown Het
Rreb1 T C 13: 38,100,544 (GRCm39) M225T possibly damaging Het
Ryr3 T C 2: 112,858,989 (GRCm39) K55E probably damaging Het
Saxo4 T A 19: 10,459,702 (GRCm39) M2L probably benign Het
Scgb2b26 G T 7: 33,644,379 (GRCm39) T4K probably damaging Het
Setx C A 2: 29,038,184 (GRCm39) D1556E probably benign Het
Sft2d1 C T 17: 8,542,164 (GRCm39) T136I possibly damaging Het
Sirt5 C T 13: 43,525,380 (GRCm39) A63V possibly damaging Het
Skor2 A G 18: 76,947,504 (GRCm39) T409A possibly damaging Het
Slc12a6 T C 2: 112,164,760 (GRCm39) M153T probably benign Het
Slc34a1 A G 13: 24,006,348 (GRCm39) Y458C probably damaging Het
Slc36a2 A G 11: 55,053,483 (GRCm39) V385A possibly damaging Het
St6galnac5 A T 3: 152,552,131 (GRCm39) H145Q probably damaging Het
Tal1 T A 4: 114,925,610 (GRCm39) N226K probably damaging Het
Tgtp2 G C 11: 48,950,135 (GRCm39) R146G probably damaging Het
Usp6nl T C 2: 6,445,330 (GRCm39) S436P probably benign Het
Utp3 A G 5: 88,702,621 (GRCm39) E50G probably benign Het
Zfp12 A T 5: 143,225,749 (GRCm39) Q19L probably damaging Het
Other mutations in L3mbtl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:L3mbtl1 APN 2 162,808,983 (GRCm39) missense probably damaging 1.00
IGL01090:L3mbtl1 APN 2 162,807,925 (GRCm39) missense probably damaging 1.00
IGL01291:L3mbtl1 APN 2 162,812,100 (GRCm39) missense probably benign 0.30
IGL02897:L3mbtl1 APN 2 162,807,692 (GRCm39) missense probably damaging 1.00
IGL02974:L3mbtl1 APN 2 162,812,103 (GRCm39) missense possibly damaging 0.68
IGL02986:L3mbtl1 APN 2 162,812,225 (GRCm39) missense probably damaging 1.00
IGL03057:L3mbtl1 APN 2 162,809,303 (GRCm39) missense probably damaging 1.00
IGL03372:L3mbtl1 APN 2 162,813,077 (GRCm39) splice site probably benign
ANU05:L3mbtl1 UTSW 2 162,812,100 (GRCm39) missense probably benign 0.30
R0006:L3mbtl1 UTSW 2 162,806,489 (GRCm39) missense possibly damaging 0.94
R0006:L3mbtl1 UTSW 2 162,806,489 (GRCm39) missense possibly damaging 0.94
R0067:L3mbtl1 UTSW 2 162,790,748 (GRCm39) missense probably damaging 1.00
R0067:L3mbtl1 UTSW 2 162,790,748 (GRCm39) missense probably damaging 1.00
R0078:L3mbtl1 UTSW 2 162,789,146 (GRCm39) missense probably benign 0.12
R0505:L3mbtl1 UTSW 2 162,789,255 (GRCm39) splice site probably benign
R0748:L3mbtl1 UTSW 2 162,813,084 (GRCm39) critical splice acceptor site probably null
R0748:L3mbtl1 UTSW 2 162,813,083 (GRCm39) splice site probably benign
R0761:L3mbtl1 UTSW 2 162,807,967 (GRCm39) missense probably damaging 1.00
R1789:L3mbtl1 UTSW 2 162,816,422 (GRCm39) missense probably benign
R1970:L3mbtl1 UTSW 2 162,801,492 (GRCm39) missense probably damaging 1.00
R2114:L3mbtl1 UTSW 2 162,801,990 (GRCm39) splice site probably null
R2115:L3mbtl1 UTSW 2 162,801,990 (GRCm39) splice site probably null
R2116:L3mbtl1 UTSW 2 162,801,990 (GRCm39) splice site probably null
R2117:L3mbtl1 UTSW 2 162,801,990 (GRCm39) splice site probably null
R2513:L3mbtl1 UTSW 2 162,809,505 (GRCm39) missense probably benign
R3848:L3mbtl1 UTSW 2 162,790,121 (GRCm39) missense probably damaging 1.00
R4877:L3mbtl1 UTSW 2 162,790,488 (GRCm39) missense probably damaging 0.98
R4930:L3mbtl1 UTSW 2 162,807,692 (GRCm39) missense probably damaging 1.00
R5930:L3mbtl1 UTSW 2 162,809,256 (GRCm39) small deletion probably benign
R5932:L3mbtl1 UTSW 2 162,809,256 (GRCm39) small deletion probably benign
R6562:L3mbtl1 UTSW 2 162,812,124 (GRCm39) missense probably benign 0.28
R6601:L3mbtl1 UTSW 2 162,790,095 (GRCm39) start gained probably benign
R6995:L3mbtl1 UTSW 2 162,803,368 (GRCm39) missense probably damaging 1.00
R7346:L3mbtl1 UTSW 2 162,808,926 (GRCm39) missense probably benign 0.01
R7379:L3mbtl1 UTSW 2 162,802,899 (GRCm39) missense probably damaging 1.00
R7474:L3mbtl1 UTSW 2 162,808,524 (GRCm39) missense probably damaging 1.00
R7553:L3mbtl1 UTSW 2 162,790,151 (GRCm39) missense probably benign 0.01
R7599:L3mbtl1 UTSW 2 162,806,434 (GRCm39) missense possibly damaging 0.70
R8745:L3mbtl1 UTSW 2 162,812,137 (GRCm39) missense probably benign 0.08
R8910:L3mbtl1 UTSW 2 162,812,213 (GRCm39) missense probably benign 0.00
R9039:L3mbtl1 UTSW 2 162,807,988 (GRCm39) missense probably damaging 1.00
R9216:L3mbtl1 UTSW 2 162,806,972 (GRCm39) missense probably benign 0.04
R9253:L3mbtl1 UTSW 2 162,789,632 (GRCm39) missense probably benign 0.00
R9483:L3mbtl1 UTSW 2 162,790,734 (GRCm39) missense probably benign 0.01
R9509:L3mbtl1 UTSW 2 162,809,303 (GRCm39) missense probably damaging 1.00
R9683:L3mbtl1 UTSW 2 162,812,228 (GRCm39) missense possibly damaging 0.88
R9688:L3mbtl1 UTSW 2 162,790,697 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- TCCGGGCATAACATTGGACC -3'
(R):5'- GCCTCCTCACTGATGTATAATGC -3'

Sequencing Primer
(F):5'- GCATAACATTGGACCAGAGAGCC -3'
(R):5'- GCAAGATAAACAACTCCAAGAATAAG -3'
Posted On 2019-06-26