Incidental Mutation 'R0092:L3mbtl4'
ID 20335
Institutional Source Beutler Lab
Gene Symbol L3mbtl4
Ensembl Gene ENSMUSG00000041565
Gene Name L3MBTL4 histone methyl-lysine binding protein
Synonyms D930040M24Rik, A730037L19Rik
MMRRC Submission 038379-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0092 (G1)
Quality Score 204
Status Validated (trace)
Chromosome 17
Chromosomal Location 68580792-69087081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 68732698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 59 (R59S)
Ref Sequence ENSEMBL: ENSMUSP00000121045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093007] [ENSMUST00000124543] [ENSMUST00000139383]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000093007
AA Change: R59S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000094892
Gene: ENSMUSG00000041565
AA Change: R59S

DomainStartEndE-ValueType
MBT 52 152 2.24e-46 SMART
MBT 160 260 6.29e-41 SMART
MBT 269 364 2.8e-47 SMART
Pfam:zf-C2HC 378 407 8.1e-16 PFAM
SAM 540 607 5.17e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124543
AA Change: R59S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000121045
Gene: ENSMUSG00000041565
AA Change: R59S

DomainStartEndE-ValueType
MBT 52 152 2.24e-46 SMART
MBT 160 260 6.29e-41 SMART
MBT 269 364 2.8e-47 SMART
Pfam:zf-C2HC 376 407 3.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139383
AA Change: R59S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000117626
Gene: ENSMUSG00000041565
AA Change: R59S

DomainStartEndE-ValueType
MBT 52 152 2.24e-46 SMART
MBT 160 260 6.29e-41 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150573
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 88.6%
Validation Efficiency 99% (112/113)
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T A 6: 58,662,762 (GRCm39) S535T probably benign Het
Acad11 A T 9: 103,967,540 (GRCm39) probably benign Het
Acadm A T 3: 153,647,512 (GRCm39) probably benign Het
Acot12 T A 13: 91,889,684 (GRCm39) M12K probably damaging Het
Actr2 A T 11: 20,044,308 (GRCm39) N99K probably benign Het
Adam2 G A 14: 66,291,336 (GRCm39) A314V probably damaging Het
Agl C T 3: 116,587,453 (GRCm39) R34Q probably damaging Het
Agrn C T 4: 156,263,410 (GRCm39) R338H probably damaging Het
AI661453 A G 17: 47,778,440 (GRCm39) probably benign Het
Alpk3 A G 7: 80,742,301 (GRCm39) D706G probably benign Het
Apbb1 T C 7: 105,208,361 (GRCm39) E648G probably damaging Het
Astn2 C A 4: 66,322,219 (GRCm39) A127S unknown Het
Asxl2 T C 12: 3,546,313 (GRCm39) S366P probably benign Het
Bdh1 A T 16: 31,266,380 (GRCm39) K92* probably null Het
Bltp1 A G 3: 37,082,308 (GRCm39) D3790G probably benign Het
Cacna1g C T 11: 94,348,090 (GRCm39) S666N probably damaging Het
Ces2b A G 8: 105,563,144 (GRCm39) T361A possibly damaging Het
Col6a4 T A 9: 105,890,513 (GRCm39) E1927V probably benign Het
Ctnnb1 T G 9: 120,781,929 (GRCm39) I314S possibly damaging Het
Cyp2c66 T C 19: 39,172,224 (GRCm39) probably benign Het
Dennd4c T A 4: 86,699,844 (GRCm39) F232I probably damaging Het
Dennd5a T C 7: 109,499,013 (GRCm39) N950S possibly damaging Het
Dhx30 T C 9: 109,914,078 (GRCm39) N14S possibly damaging Het
Dip2b T A 15: 100,100,146 (GRCm39) V1004D probably damaging Het
Dnah1 A C 14: 30,993,566 (GRCm39) S2872A probably benign Het
Dnajc10 T C 2: 80,156,026 (GRCm39) V233A probably damaging Het
E230025N22Rik A G 18: 36,822,277 (GRCm39) L162P probably damaging Het
Elmod3 T C 6: 72,543,792 (GRCm39) D333G probably benign Het
Epb41l3 T A 17: 69,593,745 (GRCm39) M846K probably damaging Het
Frem2 A G 3: 53,497,217 (GRCm39) Y1766H probably benign Het
Fxr2 T C 11: 69,532,972 (GRCm39) probably benign Het
Gmpr2 A G 14: 55,915,402 (GRCm39) R258G probably benign Het
Helb T C 10: 119,925,713 (GRCm39) Y888C probably damaging Het
Hephl1 TTCCAGATGTCC TTCC 9: 15,001,899 (GRCm39) probably null Het
Hipk2 T C 6: 38,720,164 (GRCm39) D482G probably damaging Het
Itgb4 G T 11: 115,869,950 (GRCm39) R44L probably damaging Het
Itih1 T C 14: 30,662,820 (GRCm39) probably benign Het
Kit T A 5: 75,808,414 (GRCm39) S719R possibly damaging Het
Krt13 G A 11: 100,012,258 (GRCm39) Q22* probably null Het
Lpp A G 16: 24,580,352 (GRCm39) S23G probably benign Het
Magi3 G A 3: 103,958,280 (GRCm39) Q602* probably null Het
Man2a1 A G 17: 64,966,079 (GRCm39) probably benign Het
Muc5ac A G 7: 141,372,367 (GRCm39) E2667G possibly damaging Het
Myef2l G A 3: 10,153,633 (GRCm39) C134Y possibly damaging Het
Myo15b C G 11: 115,753,812 (GRCm39) S842C possibly damaging Het
Naf1 T A 8: 67,341,760 (GRCm39) S462T probably benign Het
Necab3 T C 2: 154,400,659 (GRCm39) D34G possibly damaging Het
Nisch C A 14: 30,913,410 (GRCm39) probably benign Het
Nlrc5 T C 8: 95,216,222 (GRCm39) probably benign Het
Nmt1 T C 11: 102,937,319 (GRCm39) F119L probably damaging Het
Nod1 T G 6: 54,921,526 (GRCm39) D264A probably damaging Het
Nol8 C T 13: 49,815,923 (GRCm39) A677V possibly damaging Het
Nt5e T A 9: 88,252,338 (GRCm39) F567I probably benign Het
Obscn A T 11: 58,942,073 (GRCm39) M4434K possibly damaging Het
Opa1 A T 16: 29,444,412 (GRCm39) D866V probably damaging Het
Or10a3m T C 7: 108,313,031 (GRCm39) V145A probably benign Het
Or10al3 T G 17: 38,011,696 (GRCm39) L45R probably damaging Het
Or10p1 A G 10: 129,444,090 (GRCm39) S87P probably damaging Het
Or1j21 A G 2: 36,683,508 (GRCm39) T87A probably benign Het
Or51ai2 T C 7: 103,586,934 (GRCm39) S116P probably damaging Het
Otop1 T A 5: 38,457,174 (GRCm39) V311E probably damaging Het
Pcsk2 A G 2: 143,642,944 (GRCm39) D407G probably damaging Het
Pdcd1 A G 1: 93,980,149 (GRCm39) W23R possibly damaging Het
Pigp A G 16: 94,166,321 (GRCm39) V129A probably damaging Het
Pik3r5 A G 11: 68,383,629 (GRCm39) R483G probably benign Het
Pink1 A G 4: 138,047,309 (GRCm39) V225A probably benign Het
Plcl1 C G 1: 55,735,924 (GRCm39) Q422E probably damaging Het
Plec T C 15: 76,067,943 (GRCm39) E1222G probably benign Het
Polr1a T C 6: 71,944,439 (GRCm39) probably benign Het
Prokr2 C T 2: 132,215,517 (GRCm39) V154M probably damaging Het
Rasgrp4 A G 7: 28,844,557 (GRCm39) R280G possibly damaging Het
Rmnd5b T C 11: 51,520,419 (GRCm39) E8G possibly damaging Het
Sbf2 T A 7: 109,920,013 (GRCm39) probably benign Het
Sec23b A G 2: 144,408,830 (GRCm39) M172V probably benign Het
Setx T C 2: 29,036,305 (GRCm39) V930A probably benign Het
Sft2d2 G A 1: 165,006,829 (GRCm39) A159V possibly damaging Het
Sh3gl1 G T 17: 56,325,088 (GRCm39) R250S probably benign Het
Skor1 C A 9: 63,053,277 (GRCm39) D231Y probably damaging Het
Slc24a1 T G 9: 64,856,034 (GRCm39) E291A unknown Het
Slc28a2b G T 2: 122,348,078 (GRCm39) probably benign Het
Smc1b A T 15: 84,951,925 (GRCm39) probably benign Het
Tbccd1 A T 16: 22,644,844 (GRCm39) N177K possibly damaging Het
Tdp1 T A 12: 99,921,248 (GRCm39) Y595N probably damaging Het
Tle5 G A 10: 81,397,054 (GRCm39) G10D possibly damaging Het
Tmem108 T C 9: 103,366,504 (GRCm39) K496E possibly damaging Het
Tmprss7 T C 16: 45,487,959 (GRCm39) D490G probably damaging Het
Tnrc6b A T 15: 80,802,729 (GRCm39) N1511Y probably damaging Het
Top2b G A 14: 16,409,263 (GRCm38) R802Q probably damaging Het
Trip10 A T 17: 57,557,798 (GRCm39) K27N possibly damaging Het
Txlnb A G 10: 17,718,503 (GRCm39) N445D possibly damaging Het
Txnrd1 T A 10: 82,715,636 (GRCm39) I159N probably damaging Het
Ulk1 C A 5: 110,944,193 (GRCm39) A164S probably null Het
Vmn2r83 T C 10: 79,327,798 (GRCm39) V802A probably damaging Het
Zbtb4 A G 11: 69,670,177 (GRCm39) I967V probably benign Het
Other mutations in L3mbtl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01626:L3mbtl4 APN 17 68,937,197 (GRCm39) missense probably damaging 1.00
IGL02274:L3mbtl4 APN 17 69,071,579 (GRCm39) missense probably benign 0.01
IGL02304:L3mbtl4 APN 17 68,894,180 (GRCm39) nonsense probably null
IGL02473:L3mbtl4 APN 17 68,866,772 (GRCm39) missense possibly damaging 0.93
IGL02543:L3mbtl4 APN 17 68,768,607 (GRCm39) splice site probably benign
IGL02706:L3mbtl4 APN 17 68,793,914 (GRCm39) missense probably damaging 1.00
IGL02729:L3mbtl4 APN 17 68,791,738 (GRCm39) missense probably benign 0.23
IGL02817:L3mbtl4 APN 17 68,937,249 (GRCm39) missense probably benign 0.30
IGL03237:L3mbtl4 APN 17 69,084,856 (GRCm39) missense probably damaging 1.00
IGL03371:L3mbtl4 APN 17 68,768,563 (GRCm39) missense probably damaging 1.00
R0389:L3mbtl4 UTSW 17 68,762,775 (GRCm39) missense probably damaging 1.00
R0504:L3mbtl4 UTSW 17 69,084,907 (GRCm39) missense probably benign 0.07
R0598:L3mbtl4 UTSW 17 68,766,768 (GRCm39) missense probably benign 0.04
R0650:L3mbtl4 UTSW 17 69,081,286 (GRCm39) missense probably damaging 1.00
R0652:L3mbtl4 UTSW 17 69,081,286 (GRCm39) missense probably damaging 1.00
R0842:L3mbtl4 UTSW 17 68,793,957 (GRCm39) missense probably benign 0.19
R1900:L3mbtl4 UTSW 17 68,766,800 (GRCm39) missense probably damaging 0.99
R2065:L3mbtl4 UTSW 17 68,732,687 (GRCm39) missense probably benign 0.04
R2173:L3mbtl4 UTSW 17 68,894,188 (GRCm39) missense probably damaging 1.00
R2987:L3mbtl4 UTSW 17 68,666,513 (GRCm39) missense possibly damaging 0.89
R3119:L3mbtl4 UTSW 17 68,732,669 (GRCm39) missense probably benign 0.02
R3153:L3mbtl4 UTSW 17 68,764,243 (GRCm39) nonsense probably null
R4044:L3mbtl4 UTSW 17 69,084,909 (GRCm39) missense possibly damaging 0.63
R4579:L3mbtl4 UTSW 17 69,071,635 (GRCm39) missense probably benign
R4717:L3mbtl4 UTSW 17 68,762,708 (GRCm39) missense probably null 0.67
R4798:L3mbtl4 UTSW 17 68,666,475 (GRCm39) start codon destroyed probably null 0.03
R4831:L3mbtl4 UTSW 17 68,768,558 (GRCm39) missense probably damaging 0.98
R4852:L3mbtl4 UTSW 17 68,866,748 (GRCm39) missense probably damaging 1.00
R5226:L3mbtl4 UTSW 17 69,071,717 (GRCm39) critical splice donor site probably null
R5402:L3mbtl4 UTSW 17 68,762,769 (GRCm39) missense probably damaging 1.00
R5604:L3mbtl4 UTSW 17 69,084,917 (GRCm39) missense probably benign 0.01
R6377:L3mbtl4 UTSW 17 69,084,918 (GRCm39) missense probably benign 0.04
R6708:L3mbtl4 UTSW 17 68,937,253 (GRCm39) missense probably benign 0.19
R6853:L3mbtl4 UTSW 17 69,084,915 (GRCm39) missense probably damaging 0.97
R6905:L3mbtl4 UTSW 17 69,084,883 (GRCm39) missense probably benign 0.05
R7018:L3mbtl4 UTSW 17 68,793,938 (GRCm39) missense probably damaging 1.00
R7045:L3mbtl4 UTSW 17 68,768,561 (GRCm39) missense probably benign 0.00
R7047:L3mbtl4 UTSW 17 68,768,561 (GRCm39) missense probably benign 0.00
R7049:L3mbtl4 UTSW 17 68,768,561 (GRCm39) missense probably benign 0.00
R7419:L3mbtl4 UTSW 17 68,948,537 (GRCm39) missense probably benign 0.28
R8271:L3mbtl4 UTSW 17 68,793,938 (GRCm39) missense probably damaging 1.00
R8493:L3mbtl4 UTSW 17 68,937,239 (GRCm39) missense probably damaging 1.00
R8863:L3mbtl4 UTSW 17 68,986,419 (GRCm39) missense probably benign
R8891:L3mbtl4 UTSW 17 68,762,781 (GRCm39) missense possibly damaging 0.60
R8996:L3mbtl4 UTSW 17 68,769,997 (GRCm39) missense probably benign 0.00
R9598:L3mbtl4 UTSW 17 68,866,767 (GRCm39) missense probably benign 0.08
R9789:L3mbtl4 UTSW 17 68,766,794 (GRCm39) missense probably benign 0.16
X0063:L3mbtl4 UTSW 17 68,937,248 (GRCm39) missense probably benign 0.37
Z1176:L3mbtl4 UTSW 17 68,732,682 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCGATAGGGGAAGGTTACTGACTG -3'
(R):5'- GGCCTGTTCAAAATAACCCTTAAGTGGA -3'

Sequencing Primer
(F):5'- CTGACTGTTTATAGGAAATGAGAGAC -3'
(R):5'- aaggatggagggaggtgg -3'
Posted On 2013-04-11