Incidental Mutation 'R3848:L3mbtl1'
ID 275740
Institutional Source Beutler Lab
Gene Symbol L3mbtl1
Ensembl Gene ENSMUSG00000035576
Gene Name L3MBTL1 histone methyl-lysine binding protein
Synonyms L3MBTL1
MMRRC Submission 040896-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3848 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 162785392-162816442 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 162790121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 132 (E132G)
Ref Sequence ENSEMBL: ENSMUSP00000123217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035751] [ENSMUST00000124264] [ENSMUST00000156954]
AlphaFold A2A5N8
Predicted Effect probably benign
Transcript: ENSMUST00000035751
AA Change: E132G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000044038
Gene: ENSMUSG00000035576
AA Change: E132G

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 damaging
Transcript: ENSMUST00000124264
AA Change: E5G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116118
Gene: ENSMUSG00000035576
AA Change: E5G

DomainStartEndE-ValueType
low complexity region 107 115 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137108
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153416
Predicted Effect probably damaging
Transcript: ENSMUST00000156954
AA Change: E132G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123217
Gene: ENSMUSG00000035576
AA Change: E132G

DomainStartEndE-ValueType
low complexity region 234 242 N/A INTRINSIC
Meta Mutation Damage Score 0.1523 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 100% (62/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,336,783 (GRCm39) Q1564L probably damaging Het
Adgrv1 A G 13: 81,588,191 (GRCm39) V4465A probably damaging Het
Als2cl A G 9: 110,718,377 (GRCm39) probably benign Het
Anxa2 G T 9: 69,374,624 (GRCm39) D34Y probably damaging Het
Asic1 A G 15: 99,570,814 (GRCm39) N143S probably benign Het
Catsperb A C 12: 101,475,585 (GRCm39) Q376H probably damaging Het
Cd72 T C 4: 43,452,525 (GRCm39) E132G possibly damaging Het
Cdh16 T C 8: 105,344,473 (GRCm39) D22G possibly damaging Het
Cep170 G A 1: 176,583,409 (GRCm39) A990V probably benign Het
Col15a1 T C 4: 47,289,374 (GRCm39) V48A possibly damaging Het
Col3a1 C A 1: 45,361,150 (GRCm39) P112T unknown Het
Cpeb2 T G 5: 43,394,788 (GRCm39) S64A probably damaging Het
Cplx3 G A 9: 57,515,600 (GRCm39) A425V possibly damaging Het
Ctsc A G 7: 87,958,818 (GRCm39) H366R probably benign Het
Cul5 T G 9: 53,529,286 (GRCm39) M800L probably benign Het
Dst C T 1: 34,251,400 (GRCm39) S4165F probably damaging Het
Efhb A T 17: 53,734,024 (GRCm39) probably benign Het
Fat4 T A 3: 39,061,410 (GRCm39) V4331D probably benign Het
Fbxl8 T C 8: 105,993,781 (GRCm39) S46P probably benign Het
Fbxo38 G A 18: 62,648,144 (GRCm39) S798F possibly damaging Het
Fggy T C 4: 95,489,361 (GRCm39) probably benign Het
Foxp4 A G 17: 48,186,453 (GRCm39) I442T unknown Het
Gm13941 T C 2: 110,935,198 (GRCm39) M11V unknown Het
Hoxd8 A G 2: 74,535,929 (GRCm39) Y13C possibly damaging Het
Hsf4 T C 8: 105,997,469 (GRCm39) F101L probably damaging Het
Jph2 G A 2: 163,181,332 (GRCm39) P611S probably benign Het
Kifbp A G 10: 62,405,249 (GRCm39) Y64H probably damaging Het
Kndc1 T C 7: 139,488,893 (GRCm39) S183P probably damaging Het
Lmo7 A G 14: 102,159,531 (GRCm39) probably null Het
Lrpprc T C 17: 85,078,355 (GRCm39) I308V probably benign Het
Mei1 T C 15: 81,997,218 (GRCm39) probably benign Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Naip2 A T 13: 100,315,940 (GRCm39) L280Q probably damaging Het
Naip2 G C 13: 100,315,941 (GRCm39) L280V probably damaging Het
Nek1 T A 8: 61,525,349 (GRCm39) F596I probably damaging Het
Or51v8 A G 7: 103,319,908 (GRCm39) V110A probably damaging Het
Or52e8b A G 7: 104,673,539 (GRCm39) V216A probably damaging Het
Or8u10 A T 2: 85,915,751 (GRCm39) Y123* probably null Het
Orc2 T C 1: 58,520,151 (GRCm39) T225A probably benign Het
P2ry1 G A 3: 60,910,880 (GRCm39) W6* probably null Het
Pam T A 1: 97,782,481 (GRCm39) probably benign Het
Pigt G A 2: 164,340,500 (GRCm39) probably benign Het
Pik3c2a A T 7: 115,963,785 (GRCm39) C71* probably null Het
Plcxd2 T C 16: 45,792,629 (GRCm39) T237A probably damaging Het
Pnrc1 T C 4: 33,246,252 (GRCm39) K236E probably damaging Het
Ppargc1b T A 18: 61,444,113 (GRCm39) D350V probably damaging Het
Rapgef6 T C 11: 54,582,134 (GRCm39) S1349P probably damaging Het
Rnf17 T C 14: 56,749,753 (GRCm39) V1433A probably damaging Het
Sell A T 1: 163,893,230 (GRCm39) K149* probably null Het
Sidt1 A G 16: 44,076,322 (GRCm39) probably benign Het
Slc6a5 C G 7: 49,577,306 (GRCm39) probably benign Het
Slc7a14 A T 3: 31,291,623 (GRCm39) N218K probably damaging Het
Spice1 C T 16: 44,199,254 (GRCm39) R569* probably null Het
Stk35 G T 2: 129,642,656 (GRCm39) A66S probably benign Het
Tmem245 A G 4: 56,926,298 (GRCm39) probably benign Het
Tnxb A C 17: 34,909,369 (GRCm39) R1632S possibly damaging Het
Ttc6 G A 12: 57,723,932 (GRCm39) R1020H probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r105 A G 17: 20,428,952 (GRCm39) I708T possibly damaging Het
Vmn2r117 G T 17: 23,679,389 (GRCm39) H612N probably damaging Het
Vmn2r15 A T 5: 109,445,312 (GRCm39) D37E probably benign Het
Zbtb41 T A 1: 139,351,734 (GRCm39) H282Q probably benign Het
Zfp687 T C 3: 94,915,225 (GRCm39) D1092G 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
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
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'- AATGAGACTGGGACTGGACC -3'
(R):5'- TACTGGACAGCATCATCCAGC -3'

Sequencing Primer
(F):5'- GGGACTGGACCCTGTGG -3'
(R):5'- AGCCTTCTCCACTTAGGACCG -3'
Posted On 2015-04-06