Incidental Mutation 'IGL02817:L3mbtl4'
ID360852
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol L3mbtl4
Ensembl Gene ENSMUSG00000041565
Gene NameL3MBTL4 histone methyl-lysine binding protein
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02817
Quality Score
Status
Chromosome17
Chromosomal Location68273797-68777961 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 68630254 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 423 (E423D)
Ref Sequence ENSEMBL: ENSMUSP00000121045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093007] [ENSMUST00000124543] [ENSMUST00000139383]
Predicted Effect probably benign
Transcript: ENSMUST00000093007
AA Change: E423D

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000094892
Gene: ENSMUSG00000041565
AA Change: E423D

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: E423D

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000121045
Gene: ENSMUSG00000041565
AA Change: E423D

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
SMART Domains Protein: ENSMUSP00000117626
Gene: ENSMUSG00000041565

DomainStartEndE-ValueType
MBT 52 152 2.24e-46 SMART
MBT 160 260 6.29e-41 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 A G 2: 35,100,649 V12A probably damaging Het
Ash1l C A 3: 88,984,801 P1329H probably damaging Het
Bpifb3 T C 2: 153,919,646 V5A unknown Het
Cep350 A G 1: 155,928,842 S832P probably damaging Het
Chd1 A T 17: 15,749,500 H947L possibly damaging Het
Clec4b1 A T 6: 123,068,485 H88L possibly damaging Het
Col4a1 A G 8: 11,220,259 L859P probably damaging Het
Cyp2f2 T A 7: 27,129,315 N203K probably damaging Het
Dgka G A 10: 128,730,228 T351I probably benign Het
Dmc1 G A 15: 79,588,763 T161I probably damaging Het
Dnah8 A G 17: 30,668,295 N688D probably benign Het
Dpy19l3 A G 7: 35,692,808 L653P probably damaging Het
Drc3 A G 11: 60,384,236 E341G probably benign Het
Fam155a A T 8: 9,207,994 C385S probably damaging Het
Fcrl5 T G 3: 87,435,913 V10G probably benign Het
Fgfr4 T C 13: 55,156,668 probably null Het
Gli2 T C 1: 118,836,371 H1350R possibly damaging Het
Gm3248 A G 14: 5,945,825 S30P probably benign Het
Grik4 T C 9: 42,622,939 N349S probably benign Het
Ifnar2 G T 16: 91,387,992 K90N probably benign Het
Kcp A T 6: 29,496,969 I547N probably damaging Het
Mapkap1 T C 2: 34,563,118 L341P probably damaging Het
Mdm1 A G 10: 118,164,346 Q618R possibly damaging Het
Medag A T 5: 149,427,038 R51* probably null Het
Myo1f G A 17: 33,604,558 R1020K probably benign Het
Myrf T C 19: 10,225,452 N153D probably benign Het
Naf1 T C 8: 66,883,525 I368T probably damaging Het
Ncapd2 A G 6: 125,170,914 probably null Het
Nsfl1c T A 2: 151,500,731 S74T probably damaging Het
Olfr1097 T C 2: 86,890,593 N194S probably benign Het
Olfr435 A T 6: 43,202,059 R138S probably benign Het
Olfr780 A G 10: 129,321,895 T91A probably benign Het
Ptgfrn T A 3: 101,060,752 E508D probably benign Het
Ryr3 C A 2: 112,844,623 probably null Het
Snx27 A G 3: 94,503,463 L460P probably damaging Het
Sp4 G T 12: 118,299,552 T253K probably damaging Het
Trio T C 15: 27,902,881 I165V probably benign Het
Txnl4b A G 8: 109,572,846 Y146C probably damaging Het
Vmn1r42 A G 6: 89,845,536 M17T probably damaging Het
Zer1 T C 2: 30,103,394 I567V probably damaging Het
Other mutations in L3mbtl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01626:L3mbtl4 APN 17 68630202 missense probably damaging 1.00
IGL02274:L3mbtl4 APN 17 68764584 missense probably benign 0.01
IGL02304:L3mbtl4 APN 17 68587185 nonsense probably null
IGL02473:L3mbtl4 APN 17 68559777 missense possibly damaging 0.93
IGL02543:L3mbtl4 APN 17 68461612 splice site probably benign
IGL02706:L3mbtl4 APN 17 68486919 missense probably damaging 1.00
IGL02729:L3mbtl4 APN 17 68484743 missense probably benign 0.23
IGL03237:L3mbtl4 APN 17 68777861 missense probably damaging 1.00
IGL03371:L3mbtl4 APN 17 68461568 missense probably damaging 1.00
R0092:L3mbtl4 UTSW 17 68425703 missense probably benign 0.01
R0389:L3mbtl4 UTSW 17 68455780 missense probably damaging 1.00
R0504:L3mbtl4 UTSW 17 68777912 missense probably benign 0.07
R0598:L3mbtl4 UTSW 17 68459773 missense probably benign 0.04
R0650:L3mbtl4 UTSW 17 68774291 missense probably damaging 1.00
R0652:L3mbtl4 UTSW 17 68774291 missense probably damaging 1.00
R0842:L3mbtl4 UTSW 17 68486962 missense probably benign 0.19
R1900:L3mbtl4 UTSW 17 68459805 missense probably damaging 0.99
R2065:L3mbtl4 UTSW 17 68425692 missense probably benign 0.04
R2173:L3mbtl4 UTSW 17 68587193 missense probably damaging 1.00
R2987:L3mbtl4 UTSW 17 68359518 missense possibly damaging 0.89
R3119:L3mbtl4 UTSW 17 68425674 missense probably benign 0.02
R3153:L3mbtl4 UTSW 17 68457248 nonsense probably null
R4044:L3mbtl4 UTSW 17 68777914 missense possibly damaging 0.63
R4579:L3mbtl4 UTSW 17 68764640 missense probably benign
R4717:L3mbtl4 UTSW 17 68455713 missense probably null 0.67
R4798:L3mbtl4 UTSW 17 68359480 start codon destroyed probably null 0.03
R4831:L3mbtl4 UTSW 17 68461563 missense probably damaging 0.98
R4852:L3mbtl4 UTSW 17 68559753 missense probably damaging 1.00
R5226:L3mbtl4 UTSW 17 68764722 critical splice donor site probably null
R5402:L3mbtl4 UTSW 17 68455774 missense probably damaging 1.00
R5604:L3mbtl4 UTSW 17 68777922 missense probably benign 0.01
R6377:L3mbtl4 UTSW 17 68777923 missense probably benign 0.04
R6708:L3mbtl4 UTSW 17 68630258 missense probably benign 0.19
R6853:L3mbtl4 UTSW 17 68777920 missense probably damaging 0.97
R6905:L3mbtl4 UTSW 17 68777888 missense probably benign 0.05
R7018:L3mbtl4 UTSW 17 68486943 missense probably damaging 1.00
R7045:L3mbtl4 UTSW 17 68461566 missense probably benign 0.00
R7047:L3mbtl4 UTSW 17 68461566 missense probably benign 0.00
R7049:L3mbtl4 UTSW 17 68461566 missense probably benign 0.00
R7419:L3mbtl4 UTSW 17 68641542 missense probably benign 0.28
R8271:L3mbtl4 UTSW 17 68486943 missense probably damaging 1.00
X0063:L3mbtl4 UTSW 17 68630253 missense probably benign 0.37
Z1176:L3mbtl4 UTSW 17 68425687 missense probably damaging 1.00
Posted On2015-12-18