Incidental Mutation 'IGL02274:L3mbtl4'
ID287277
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? Probably non essential (E-score: 0.049) question?
Stock #IGL02274
Quality Score
Status
Chromosome17
Chromosomal Location68273797-68777961 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 68764584 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Proline at position 502 (H502P)
Ref Sequence ENSEMBL: ENSMUSP00000094892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093007]
Predicted Effect probably benign
Transcript: ENSMUST00000093007
AA Change: H502P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000094892
Gene: ENSMUSG00000041565
AA Change: H502P

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef10 A G 8: 14,947,205 D48G probably damaging Het
Asnsd1 T C 1: 53,347,575 I298V probably benign Het
Cacna2d3 G T 14: 28,956,870 probably null Het
Cbs T C 17: 31,625,948 probably null Het
Ccm2 C A 11: 6,590,808 T216K probably damaging Het
D430042O09Rik A G 7: 125,770,570 probably null Het
Galc C T 12: 98,254,214 W131* probably null Het
Gemin5 T C 11: 58,156,795 R318G possibly damaging Het
Gsta3 T G 1: 21,249,788 V6G possibly damaging Het
Hdlbp A T 1: 93,408,507 probably null Het
Igkv13-55-1 T G 6: 69,600,148 noncoding transcript Het
Il17rd A G 14: 27,099,910 Y387C probably damaging Het
Kmt2e C T 5: 23,500,760 T1344I probably benign Het
Lrig1 A T 6: 94,663,938 N95K possibly damaging Het
Neurl2 G T 2: 164,833,092 R117S probably damaging Het
Nos1 G A 5: 117,897,780 A449T probably damaging Het
Noxa1 A T 2: 25,085,755 V435E probably benign Het
Parp9 C T 16: 35,947,947 R166W probably damaging Het
Pdzd2 A G 15: 12,445,649 I158T probably damaging Het
Pip5k1c T C 10: 81,306,384 Y143H probably damaging Het
Qrfpr A G 3: 36,222,136 V35A probably damaging Het
Rab3gap1 T G 1: 127,939,080 S881A probably benign Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Scai G A 2: 39,102,317 probably benign Het
Skiv2l T A 17: 34,845,863 I418F probably damaging Het
Tenm4 A C 7: 96,854,734 H1300P probably damaging Het
Tmppe A G 9: 114,405,431 H266R probably benign Het
Wdr11 A T 7: 129,631,172 probably null Het
Xirp2 A G 2: 67,508,651 E412G probably benign Het
Zan A G 5: 137,421,167 V2910A unknown Het
Other mutations in L3mbtl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01626:L3mbtl4 APN 17 68630202 missense probably damaging 1.00
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
IGL02817:L3mbtl4 APN 17 68630254 missense probably benign 0.30
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
X0063:L3mbtl4 UTSW 17 68630253 missense probably benign 0.37
Posted On2015-04-16