Incidental Mutation 'R8745:L3mbtl1'
ID 663468
Institutional Source Beutler Lab
Gene Symbol L3mbtl1
Ensembl Gene ENSMUSG00000035576
Gene Name L3MBTL1 histone methyl-lysine binding protein
Synonyms L3MBTL1
MMRRC Submission 068589-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8745 (G1)
Quality Score 146.008
Status Not validated
Chromosome 2
Chromosomal Location 162785392-162816442 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 162812137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 727 (H727Q)
Ref Sequence ENSEMBL: ENSMUSP00000044038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035751]
AlphaFold A2A5N8
Predicted Effect probably benign
Transcript: ENSMUST00000035751
AA Change: H727Q

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000044038
Gene: ENSMUSG00000035576
AA Change: H727Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.5%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 A G 19: 20,611,807 (GRCm39) N377S probably benign Het
Aldh3b3 A T 19: 4,014,890 (GRCm39) Y129F possibly damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Ankrd61 G A 5: 143,828,237 (GRCm39) S246L possibly damaging Het
Ccdc187 T A 2: 26,170,526 (GRCm39) I651F probably damaging Het
Cdc40 C T 10: 40,717,480 (GRCm39) D404N probably damaging Het
Ceacam13 T A 7: 17,743,934 (GRCm39) S14T probably damaging Het
Cfap58 A T 19: 47,929,553 (GRCm39) K5* probably null Het
Col27a1 T C 4: 63,144,153 (GRCm39) S614P probably benign Het
Crlf3 T A 11: 79,955,100 (GRCm39) E85D probably damaging Het
Dennd2b T A 7: 109,156,279 (GRCm39) H157L probably benign Het
Dlat G T 9: 50,560,967 (GRCm39) A360E probably damaging Het
Dnah7b A G 1: 46,221,624 (GRCm39) I1243V possibly damaging Het
Dnajc22 A G 15: 98,999,345 (GRCm39) T177A probably benign Het
Dytn A T 1: 63,686,606 (GRCm39) C355S probably benign Het
Efcab3 C T 11: 104,749,304 (GRCm39) T2340M possibly damaging Het
Ehbp1 T C 11: 22,119,064 (GRCm39) N202S possibly damaging Het
Exoc3l2 T C 7: 19,215,212 (GRCm39) I491T unknown Het
Fam135a G A 1: 24,067,569 (GRCm39) T1100M probably benign Het
Fam53a A T 5: 33,767,781 (GRCm39) I43N probably damaging Het
Fis1 G T 5: 136,982,365 (GRCm39) probably benign Het
Fn1 T C 1: 71,676,528 (GRCm39) T568A probably benign Het
Gba1 A T 3: 89,115,180 (GRCm39) N404I probably damaging Het
Gsap A G 5: 21,474,949 (GRCm39) Y536C probably benign Het
Hecw2 T A 1: 53,972,330 (GRCm39) E230V probably damaging Het
Heg1 A G 16: 33,555,986 (GRCm39) Q1046R probably benign Het
Kctd14 G A 7: 97,107,445 (GRCm39) W233* probably null Het
Krt88 T C 15: 101,351,460 (GRCm39) S156P possibly damaging Het
Man1c1 T C 4: 134,303,295 (GRCm39) K400E probably damaging Het
Map2 A T 1: 66,452,556 (GRCm39) Q482L probably benign Het
Map3k1 A G 13: 111,893,306 (GRCm39) V733A probably damaging Het
Map4k1 G A 7: 28,686,542 (GRCm39) D155N probably damaging Het
Map4k3 G A 17: 80,944,164 (GRCm39) R328C possibly damaging Het
Marchf7 C T 2: 60,067,153 (GRCm39) Q558* probably null Het
Mepe T C 5: 104,485,525 (GRCm39) S222P possibly damaging Het
Mfap3l A T 8: 61,124,958 (GRCm39) N400I possibly damaging Het
Myom3 T C 4: 135,522,509 (GRCm39) probably null Het
Nav3 T C 10: 109,659,311 (GRCm39) T769A probably benign Het
Ndufb7 T A 8: 84,297,518 (GRCm39) Y58N probably damaging Het
Nup160 T C 2: 90,530,463 (GRCm39) F445L probably benign Het
Or1e20-ps1 C A 11: 73,324,848 (GRCm39) *68L probably null Het
Or4c126 T A 2: 89,824,076 (GRCm39) M113K probably damaging Het
Or4p23 T C 2: 88,576,408 (GRCm39) I275V possibly damaging Het
Ovch2 G A 7: 107,389,584 (GRCm39) S321F possibly damaging Het
Pamr1 T C 2: 102,441,924 (GRCm39) L171P probably damaging Het
Pcdhga5 T C 18: 37,828,974 (GRCm39) V474A possibly damaging Het
Pcgf6 A G 19: 47,039,159 (GRCm39) S34P probably benign Het
Pitrm1 C T 13: 6,603,238 (GRCm39) P96L probably damaging Het
Polr1a T C 6: 71,931,755 (GRCm39) F945L probably damaging Het
Ranbp1 A G 16: 18,065,244 (GRCm39) S21P possibly damaging Het
Rasgrp2 G T 19: 6,463,949 (GRCm39) R549L probably damaging Het
Rassf10 T A 7: 112,554,083 (GRCm39) L228Q probably damaging Het
Rho A T 6: 115,912,483 (GRCm39) I275F probably damaging Het
Rrp9 T C 9: 106,361,657 (GRCm39) V400A possibly damaging Het
Satb2 A G 1: 57,008,796 (GRCm39) L62P unknown Het
Scmh1 T A 4: 120,362,559 (GRCm39) L265* probably null Het
Scn7a A G 2: 66,510,526 (GRCm39) M1292T probably benign Het
Serpinb10 A T 1: 107,474,542 (GRCm39) T235S probably benign Het
Serpinb6c A G 13: 34,064,702 (GRCm39) V214A probably benign Het
Sf3b3 A G 8: 111,550,816 (GRCm39) I616T possibly damaging Het
Shb G C 4: 45,458,319 (GRCm39) R282G probably benign Het
Snx5 A T 2: 144,103,932 (GRCm39) S22T probably benign Het
Spata6 T C 4: 111,636,476 (GRCm39) F256L probably benign Het
Stab2 T C 10: 86,805,213 (GRCm39) H255R probably benign Het
Sva T A 6: 42,015,357 (GRCm39) M1K probably null Het
Tdpoz4 A T 3: 93,704,221 (GRCm39) T173S probably benign Het
Tex9 T C 9: 72,389,778 (GRCm39) I111V probably benign Het
Tigd4 A G 3: 84,501,874 (GRCm39) I264V probably benign Het
Tmem182 C T 1: 40,877,536 (GRCm39) A137V probably damaging Het
Tnfrsf1a A G 6: 125,338,745 (GRCm39) I385V probably damaging Het
Tnrc18 A T 5: 142,773,202 (GRCm39) F542L Het
Tpbpa G A 13: 61,087,778 (GRCm39) T86I possibly damaging Het
Trappc14 A G 5: 138,261,327 (GRCm39) probably null Het
Ubr5 G A 15: 38,025,039 (GRCm39) P573L Het
Usp54 A G 14: 20,612,176 (GRCm39) I880T probably benign Het
Vmn1r9 A G 6: 57,048,767 (GRCm39) I281V probably benign Het
Zfp456 C A 13: 67,515,373 (GRCm39) C111F possibly 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
R7188:L3mbtl1 UTSW 2 162,791,460 (GRCm39) critical splice donor site probably null
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
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'- GTAACCCCACCCGCTGTG -3'
(R):5'- CTGGTCTGAGACTCCTGTGAGG -3'

Sequencing Primer
(F):5'- TTTCAGAAGGGGCCATGT -3'
(R):5'- CCAGACAGGGTTTCTCTGTATAGC -3'
Posted On 2021-03-08