Incidental Mutation 'R4044:L3mbtl4'
ID 314003
Institutional Source Beutler Lab
Gene Symbol L3mbtl4
Ensembl Gene ENSMUSG00000041565
Gene Name L3MBTL4 histone methyl-lysine binding protein
Synonyms D930040M24Rik, A730037L19Rik
MMRRC Submission 040967-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4044 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 68580792-69087081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69084909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 607 (S607P)
Ref Sequence ENSEMBL: ENSMUSP00000094892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093007]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000093007
AA Change: S607P

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000094892
Gene: ENSMUSG00000041565
AA Change: S607P

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
Meta Mutation Damage Score 0.1283 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik T A 9: 89,044,347 (GRCm39) noncoding transcript Het
Ada A T 2: 163,577,380 (GRCm39) I36N probably damaging Het
Armh3 A T 19: 45,808,763 (GRCm39) Y643N probably damaging Het
Atg7 T C 6: 114,678,939 (GRCm39) V384A probably benign Het
Ccl1 T A 11: 82,070,519 (GRCm39) I18L probably benign Het
Cep70 T A 9: 99,144,662 (GRCm39) C66S possibly damaging Het
D16Ertd472e A T 16: 78,372,894 (GRCm39) D14E probably damaging Het
Dnah9 T C 11: 66,024,461 (GRCm39) K278E probably benign Het
Dsg1a C A 18: 20,457,087 (GRCm39) N153K probably damaging Het
Galnt5 T A 2: 57,888,472 (GRCm39) I24N probably damaging Het
Grid1 A T 14: 35,172,358 (GRCm39) probably benign Het
Gtf2a1 T C 12: 91,542,441 (GRCm39) H47R probably benign Het
Igf1r A G 7: 67,839,810 (GRCm39) T706A possibly damaging Het
Itih4 A T 14: 30,616,995 (GRCm39) N517I probably damaging Het
Jam3 C A 9: 27,013,159 (GRCm39) probably null Het
Katnip A G 7: 125,467,913 (GRCm39) I1366V probably benign Het
Klk1b4 A G 7: 43,860,179 (GRCm39) M98V probably benign Het
Kndc1 A G 7: 139,504,044 (GRCm39) E1116G probably benign Het
Ksr2 C T 5: 117,693,127 (GRCm39) R192* probably null Het
Map6 T C 7: 98,917,256 (GRCm39) C10R probably damaging Het
Myo3a A G 2: 22,467,712 (GRCm39) E322G probably damaging Het
Nell1 A G 7: 49,869,367 (GRCm39) N214S probably damaging Het
Npm3 T C 19: 45,736,692 (GRCm39) E149G possibly damaging Het
Or4k35 C T 2: 111,099,927 (GRCm39) V262I probably benign Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Orc3 G A 4: 34,587,055 (GRCm39) Q345* probably null Het
Otol1 A G 3: 69,935,112 (GRCm39) D368G probably damaging Het
Pals1 G A 12: 78,871,613 (GRCm39) E398K probably benign Het
Pramel26 T A 4: 143,538,170 (GRCm39) N267I probably benign Het
Prss40 G T 1: 34,599,960 (GRCm39) S9* probably null Het
Radx C T X: 138,407,752 (GRCm39) S364L probably damaging Het
Reln A T 5: 22,333,630 (GRCm39) V264D possibly damaging Het
Rpp40 A G 13: 36,082,549 (GRCm39) C275R probably benign Het
Scaf1 G A 7: 44,655,798 (GRCm39) probably benign Het
Sncaip A G 18: 53,040,475 (GRCm39) T890A probably benign Het
Spata6l A T 19: 28,923,183 (GRCm39) C80S possibly damaging Het
Thada A G 17: 84,749,135 (GRCm39) V612A probably benign Het
Tsnaxip1 G A 8: 106,560,177 (GRCm39) probably null Het
Vcan T A 13: 89,840,662 (GRCm39) L1627F probably benign Het
Vrtn T C 12: 84,695,844 (GRCm39) I198T probably damaging Het
Wnt9b T C 11: 103,622,824 (GRCm39) D193G probably damaging Het
Znrd2 T C 19: 5,780,431 (GRCm39) E189G probably damaging Het
Zswim5 A G 4: 116,843,899 (GRCm39) D979G probably damaging 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
R0092:L3mbtl4 UTSW 17 68,732,698 (GRCm39) missense probably benign 0.01
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
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'- TACCCCAGAACTGCTACTGC -3'
(R):5'- GCACTTGGTCATTTATCAAAGTCC -3'

Sequencing Primer
(F):5'- CTGCTACTGCTGGATAAACAGATTCC -3'
(R):5'- TGCCTAAACCAGACTCTTTAAAGGG -3'
Posted On 2015-04-30