Incidental Mutation 'IGL01565:Dbil5'
ID90976
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dbil5
Ensembl Gene ENSMUSG00000038057
Gene Namediazepam binding inhibitor-like 5
SynonymsELP
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01565
Quality Score
Status
Chromosome11
Chromosomal Location76217608-76218666 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to G at 76218265 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017430] [ENSMUST00000040806] [ENSMUST00000102500] [ENSMUST00000169701] [ENSMUST00000170017] [ENSMUST00000170710]
Predicted Effect probably benign
Transcript: ENSMUST00000017430
SMART Domains Protein: ENSMUSP00000017430
Gene: ENSMUSG00000017286

DomainStartEndE-ValueType
Pfam:Glyoxalase_2 143 256 1.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040806
SMART Domains Protein: ENSMUSP00000039763
Gene: ENSMUSG00000038057

DomainStartEndE-ValueType
Pfam:ACBP 3 83 7.4e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169532
Predicted Effect probably benign
Transcript: ENSMUST00000169701
SMART Domains Protein: ENSMUSP00000131174
Gene: ENSMUSG00000017286

DomainStartEndE-ValueType
Pfam:Glyoxalase_2 143 256 2.7e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170017
SMART Domains Protein: ENSMUSP00000132496
Gene: ENSMUSG00000017286

DomainStartEndE-ValueType
SCOP:d1qipa_ 1 40 3e-5 SMART
PDB:3ZI1|A 1 47 4e-25 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000170710
SMART Domains Protein: ENSMUSP00000131788
Gene: ENSMUSG00000017286

DomainStartEndE-ValueType
Pfam:Glyoxalase_2 124 237 6.1e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A G 10: 100,603,360 T36A probably damaging Het
Ankrd35 A G 3: 96,684,785 M796V probably damaging Het
Brpf1 A T 6: 113,316,650 Q560L probably damaging Het
Dnah9 T C 11: 66,033,829 K2200E possibly damaging Het
Gtf2i T C 5: 134,255,913 I471V probably damaging Het
Has3 T A 8: 106,874,445 W180R probably benign Het
Lrfn1 T C 7: 28,458,769 C38R probably damaging Het
Lrsam1 C T 2: 32,936,495 A455T probably damaging Het
Mettl2 C A 11: 105,126,538 D14E probably benign Het
Mocs1 G A 17: 49,452,320 R364Q probably benign Het
Ndst2 A T 14: 20,728,206 V435E probably damaging Het
Pi4ka A T 16: 17,389,442 probably benign Het
Pigr A C 1: 130,844,474 D143A possibly damaging Het
Polq A C 16: 37,013,113 N56T probably benign Het
Prmt7 T G 8: 106,250,409 D584E probably damaging Het
R3hdm1 A T 1: 128,186,816 Q511H probably damaging Het
Rbm33 T C 5: 28,391,079 probably benign Het
Rdh19 T G 10: 127,859,595 M226R probably benign Het
Rock2 G A 12: 16,953,317 D386N possibly damaging Het
Slc7a2 A G 8: 40,899,238 T96A possibly damaging Het
Spata2 A G 2: 167,484,294 S202P probably damaging Het
Swsap1 T A 9: 21,957,228 D265E possibly damaging Het
Tdrd3 A T 14: 87,472,232 I117L probably benign Het
Ticrr A G 7: 79,694,548 D1387G probably benign Het
Tnfaip6 A G 2: 52,055,834 S231G probably damaging Het
Trim50 T A 5: 135,367,501 D434E probably benign Het
Tyw5 T C 1: 57,394,081 Y105C probably damaging Het
Usp50 G T 2: 126,777,968 C141* probably null Het
Zfp647 A T 15: 76,911,670 C263* probably null Het
Other mutations in Dbil5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1495:Dbil5 UTSW 11 76218450 missense probably benign 0.00
R1574:Dbil5 UTSW 11 76218482 missense probably benign 0.00
R1574:Dbil5 UTSW 11 76218482 missense probably benign 0.00
Posted On2013-12-09