Incidental Mutation 'ANU05:L3mbtl1'
ID 262473
Institutional Source Beutler Lab
Gene Symbol L3mbtl1
Ensembl Gene ENSMUSG00000035576
Gene Name L3MBTL1 histone methyl-lysine binding protein
Synonyms L3MBTL1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # ANU05
Quality Score 216
Status Not validated
Chromosome 2
Chromosomal Location 162785392-162816442 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 162812100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 715 (V715A)
Ref Sequence ENSEMBL: ENSMUSP00000044038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035751]
AlphaFold A2A5N8
Predicted Effect probably benign
Transcript: ENSMUST00000035751
AA Change: V715A

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000044038
Gene: ENSMUSG00000035576
AA Change: V715A

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 noncoding transcript
Transcript: ENSMUST00000153416
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Acaca A G 11: 84,206,678 (GRCm39) K1513E probably damaging Het
Acacb T A 5: 114,363,931 (GRCm39) F1464Y probably benign Het
Adgrg6 G A 10: 14,286,274 (GRCm39) A1114V possibly damaging Het
Agl A G 3: 116,566,438 (GRCm39) I975T possibly damaging Het
Akap7 T C 10: 25,147,451 (GRCm39) H93R probably damaging Het
Arhgef11 T C 3: 87,640,481 (GRCm39) W1213R probably benign Het
Ccar1 T A 10: 62,592,428 (GRCm39) E708V probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cilp T C 9: 65,186,265 (GRCm39) S787P possibly damaging Het
Col6a3 G A 1: 90,730,014 (GRCm39) T1157I probably damaging Het
D630003M21Rik T C 2: 158,038,308 (GRCm39) Y1046C probably benign Het
Dock3 A G 9: 106,772,862 (GRCm39) S464P probably benign Het
Dusp19 A G 2: 80,454,618 (GRCm39) T113A probably benign Het
Dync1h1 A C 12: 110,615,538 (GRCm39) Y2957S probably benign Het
Epdr1 T C 13: 19,778,814 (GRCm39) Y94C probably damaging Het
Fcho1 A T 8: 72,165,191 (GRCm39) L422Q probably benign Het
Gca T A 2: 62,520,787 (GRCm39) Y210* probably null Het
Gpnmb T C 6: 49,032,615 (GRCm39) V513A probably benign Het
Irx4 A G 13: 73,415,786 (GRCm39) T192A probably damaging Het
Isca1 T C 13: 59,906,785 (GRCm39) T54A probably benign Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
Lama1 G A 17: 68,045,865 (GRCm39) D257N probably damaging Het
Lgr5 T C 10: 115,314,439 (GRCm39) H166R probably damaging Het
M6pr A G 6: 122,289,218 (GRCm39) R9G probably benign Het
Nmt2 T G 2: 3,315,731 (GRCm39) S240R probably benign Het
Npas3 A G 12: 54,114,857 (GRCm39) E593G possibly damaging Het
Or8k30 G A 2: 86,339,513 (GRCm39) A237T possibly damaging Het
Pank4 T C 4: 155,059,103 (GRCm39) M412T probably damaging Het
Psd A G 19: 46,303,186 (GRCm39) V100A possibly damaging Het
Rab11fip3 T C 17: 26,235,087 (GRCm39) T28A probably damaging Het
Rnpepl1 A T 1: 92,847,468 (GRCm39) D685V probably benign Het
Rrad T C 8: 105,357,283 (GRCm39) E88G probably benign Het
Sdk2 T A 11: 113,733,906 (GRCm39) M846L probably benign Het
Sparcl1 A T 5: 104,242,581 (GRCm39) V36E possibly damaging Het
Spmip5 A T 19: 58,777,545 (GRCm39) H80Q probably damaging Het
Srrm4 C T 5: 116,605,628 (GRCm39) E210K unknown Het
Stk25 A T 1: 93,551,145 (GRCm39) probably null Het
Tacr3 A T 3: 134,635,810 (GRCm39) Y338F probably damaging Het
Tap2 A T 17: 34,428,184 (GRCm39) Q286L probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tubgcp5 C A 7: 55,458,277 (GRCm39) A396E possibly damaging Het
Ube2o T C 11: 116,430,960 (GRCm39) D980G probably damaging Het
Vmn1r86 T C 7: 12,836,433 (GRCm39) M98V probably benign Het
Vmn2r58 T A 7: 41,513,935 (GRCm39) H236L probably benign Het
Zfp521 T C 18: 13,950,303 (GRCm39) H1217R probably damaging Het
Zfyve1 A T 12: 83,601,779 (GRCm39) F110I probably benign 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
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
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'- TCACTCTAGACAGTGGGTGCTGAAG -3'
(R):5'- AAAAGGCTGAGGAAGGGTTCTGTTC -3'

Sequencing Primer
(F):5'- CTGAAGTCCCGGAGCAAG -3'
(R):5'- atctgcctgcctctgcc -3'
Posted On 2015-02-04