Incidental Mutation 'IGL01642:Dbr1'
ID93699
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dbr1
Ensembl Gene ENSMUSG00000032469
Gene Namedebranching RNA lariats 1
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01642
Quality Score
Status
Chromosome9
Chromosomal Location99575799-99584501 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 99575978 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 17 (Y17C)
Ref Sequence ENSEMBL: ENSMUSP00000115074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066650] [ENSMUST00000139796] [ENSMUST00000148987]
Predicted Effect probably damaging
Transcript: ENSMUST00000066650
AA Change: Y17C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070991
Gene: ENSMUSG00000032469
AA Change: Y17C

DomainStartEndE-ValueType
Pfam:Metallophos 1 230 1.8e-11 PFAM
DBR1 235 380 8.27e-85 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136884
SMART Domains Protein: ENSMUSP00000114670
Gene: ENSMUSG00000032469

DomainStartEndE-ValueType
DBR1 20 128 4.22e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138002
SMART Domains Protein: ENSMUSP00000119924
Gene: ENSMUSG00000032469

DomainStartEndE-ValueType
Pfam:Metallophos 2 144 5.5e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139796
SMART Domains Protein: ENSMUSP00000115203
Gene: ENSMUSG00000032469

DomainStartEndE-ValueType
Pfam:DBR1 52 82 1.8e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000148987
AA Change: Y17C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115074
Gene: ENSMUSG00000032469
AA Change: Y17C

DomainStartEndE-ValueType
DBR1 162 231 1.34e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156035
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an RNA lariat debranching enzyme that hydrolyzes 2'-5' prime branched phosphodiester bonds. The encoded protein specifically targets the bonds at the branch point of excised lariat intron RNA, converting them to linear molecules that are then degraded. This protein may also be involved in retroviral replication. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit prenatal lethality. Mice heterozygous for this allele exhibit impaired class switch recombination in B cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat A G 11: 116,595,688 T18A possibly damaging Het
Abat A T 16: 8,600,919 I126F possibly damaging Het
Adcy6 G A 15: 98,594,509 A958V possibly damaging Het
Ago2 T C 15: 73,123,390 I447V probably benign Het
Arid1a A G 4: 133,681,844 V1784A unknown Het
Atp1b1 A G 1: 164,457,761 F33L probably benign Het
Bpnt1 G A 1: 185,354,041 V198I probably benign Het
C87414 A G 5: 93,636,295 Y437H possibly damaging Het
Clip3 A T 7: 30,297,069 probably benign Het
Clip3 G A 7: 30,298,862 M244I probably benign Het
Cyp2a22 A T 7: 26,938,759 N107K possibly damaging Het
Cyp2c23 A T 19: 44,005,556 L457Q probably damaging Het
Drc7 G A 8: 95,059,139 V208I probably benign Het
Dst T A 1: 34,189,389 L2021Q probably damaging Het
E2f4 C A 8: 105,301,336 P299T probably damaging Het
Eef1b2 T C 1: 63,177,831 L53P probably damaging Het
Enpp3 T C 10: 24,798,269 T378A probably damaging Het
Eps15 A G 4: 109,366,473 N302S probably benign Het
Esrrg G A 1: 188,210,915 V362M probably benign Het
Gcc2 T A 10: 58,280,612 N1014K probably benign Het
Gm3099 T A 14: 4,000,508 M114K possibly damaging Het
Gnptab C T 10: 88,436,132 T928I possibly damaging Het
Gpd2 A T 2: 57,268,071 R31* probably null Het
Impdh1 T C 6: 29,207,166 T60A possibly damaging Het
Kcnab3 A G 11: 69,330,430 E191G probably benign Het
Kcnh5 A G 12: 74,965,169 S659P probably damaging Het
Kl T C 5: 150,980,869 I362T possibly damaging Het
Kpna4 A G 3: 69,085,784 V414A probably damaging Het
Magi1 G A 6: 93,686,624 P1111S possibly damaging Het
Mb21d1 G A 9: 78,437,398 P247L probably damaging Het
Myo18a A G 11: 77,864,732 D1965G probably benign Het
Nadsyn1 G A 7: 143,797,878 P673S probably damaging Het
Naip2 A G 13: 100,160,937 S864P probably damaging Het
Olfr1330 A G 4: 118,893,461 Y126C probably damaging Het
Olfr453 G T 6: 42,744,552 V172L probably benign Het
Olfr715b A T 7: 107,106,822 I13N possibly damaging Het
Paics T A 5: 76,961,510 probably benign Het
Papss1 G T 3: 131,583,235 probably benign Het
Pax3 A G 1: 78,196,663 probably null Het
Pgbd5 T G 8: 124,384,202 Q159P probably benign Het
Pkd1 A G 17: 24,581,292 Y3009C probably damaging Het
Pla2g4d T C 2: 120,280,636 T161A probably damaging Het
Podxl2 T A 6: 88,843,547 Y521F probably damaging Het
Prmt2 C T 10: 76,222,493 G161S probably damaging Het
Rft1 C T 14: 30,676,868 T265I probably damaging Het
Rims2 T A 15: 39,457,796 L736M probably damaging Het
Slf1 C T 13: 77,049,915 A747T probably benign Het
Snx2 A G 18: 53,216,447 K427E probably damaging Het
Tmem131l A T 3: 83,938,050 D424E possibly damaging Het
Tmem2 T A 19: 21,823,901 I794N probably damaging Het
Tnxb A G 17: 34,718,514 T3826A probably damaging Het
Tpp2 T C 1: 43,954,653 Y233H probably damaging Het
Ubl4b C A 3: 107,554,831 E38* probably null Het
Usp5 A T 6: 124,820,453 I486N probably damaging Het
Vmn1r193 A C 13: 22,219,624 L66R probably damaging Het
Vps13b T C 15: 35,792,072 I2162T probably benign Het
Wdr66 T C 5: 123,288,698 V383A possibly damaging Het
Wipf2 T C 11: 98,890,824 V63A probably benign Het
Zfp735 G T 11: 73,710,479 C83F possibly damaging Het
Zfyve26 T C 12: 79,261,574 probably null Het
Other mutations in Dbr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01952:Dbr1 APN 9 99582412 missense possibly damaging 0.64
IGL01995:Dbr1 APN 9 99583899 missense probably benign 0.00
FR4340:Dbr1 UTSW 9 99583701 unclassified probably benign
FR4342:Dbr1 UTSW 9 99583680 unclassified probably benign
FR4449:Dbr1 UTSW 9 99583674 unclassified probably benign
FR4449:Dbr1 UTSW 9 99583686 unclassified probably benign
FR4449:Dbr1 UTSW 9 99583696 unclassified probably benign
FR4548:Dbr1 UTSW 9 99583673 nonsense probably null
FR4589:Dbr1 UTSW 9 99583677 unclassified probably benign
FR4589:Dbr1 UTSW 9 99583680 unclassified probably benign
FR4589:Dbr1 UTSW 9 99583683 unclassified probably benign
FR4589:Dbr1 UTSW 9 99583696 unclassified probably benign
FR4737:Dbr1 UTSW 9 99583686 unclassified probably benign
FR4737:Dbr1 UTSW 9 99583699 unclassified probably benign
FR4976:Dbr1 UTSW 9 99583689 unclassified probably benign
FR4976:Dbr1 UTSW 9 99583692 unclassified probably benign
FR4976:Dbr1 UTSW 9 99583701 unclassified probably benign
FR4976:Dbr1 UTSW 9 99583702 unclassified probably benign
PIT4131001:Dbr1 UTSW 9 99584019 unclassified probably null
R0100:Dbr1 UTSW 9 99583669 missense probably benign 0.01
R1240:Dbr1 UTSW 9 99584020 missense probably benign 0.44
R1502:Dbr1 UTSW 9 99582387 missense probably damaging 1.00
R2265:Dbr1 UTSW 9 99579410 missense probably damaging 1.00
R2279:Dbr1 UTSW 9 99580147 missense probably benign 0.06
R5202:Dbr1 UTSW 9 99583891 missense probably benign 0.00
R7012:Dbr1 UTSW 9 99583321 nonsense probably null
R7025:Dbr1 UTSW 9 99575983 missense probably damaging 1.00
R7037:Dbr1 UTSW 9 99576568 splice site probably null
R7192:Dbr1 UTSW 9 99576702 critical splice donor site probably null
R7350:Dbr1 UTSW 9 99582549 missense
R7396:Dbr1 UTSW 9 99583390 missense probably damaging 1.00
Posted On2013-12-09