Incidental Mutation 'R7659:Dbr1'
ID 591449
Institutional Source Beutler Lab
Gene Symbol Dbr1
Ensembl Gene ENSMUSG00000032469
Gene Name debranching RNA lariats 1
Synonyms
MMRRC Submission 045734-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7659 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 99457852-99466554 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99458663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 78 (T78A)
Ref Sequence ENSEMBL: ENSMUSP00000070991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066650] [ENSMUST00000139796] [ENSMUST00000148987]
AlphaFold Q923B1
Predicted Effect probably damaging
Transcript: ENSMUST00000066650
AA Change: T78A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070991
Gene: ENSMUSG00000032469
AA Change: T78A

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
SMART Domains Protein: ENSMUSP00000119924
Gene: ENSMUSG00000032469
AA Change: T18A

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: T78A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115074
Gene: ENSMUSG00000032469
AA Change: T78A

DomainStartEndE-ValueType
DBR1 162 231 1.34e-11 SMART
Predicted Effect
Meta Mutation Damage Score 0.8942 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (66/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh2 T C 5: 121,707,023 (GRCm39) E498G probably damaging Het
Ankar T C 1: 72,729,294 (GRCm39) T284A possibly damaging Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atp6v0a4 A G 6: 38,048,907 (GRCm39) I452T probably damaging Het
Azgp1 G T 5: 137,985,775 (GRCm39) A133S probably damaging Het
Bmp2k T C 5: 97,222,578 (GRCm39) S667P unknown Het
C1qtnf9 T A 14: 61,009,753 (GRCm39) I3N possibly damaging Het
C530025M09Rik T G 2: 149,672,539 (GRCm39) T199P unknown Het
Casc3 C G 11: 98,700,699 (GRCm39) R4G unknown Het
Cass4 A G 2: 172,268,947 (GRCm39) D343G probably damaging Het
Cenatac T C 9: 44,324,790 (GRCm39) E164G probably damaging Het
Col6a3 T A 1: 90,709,467 (GRCm39) T2517S unknown Het
Dnah9 A G 11: 65,880,606 (GRCm39) F2664L probably damaging Het
Eif2ak1 T C 5: 143,826,280 (GRCm39) I431T probably damaging Het
Got1 A G 19: 43,493,078 (GRCm39) V281A probably benign Het
Gpld1 A C 13: 25,163,964 (GRCm39) R555S probably benign Het
Gpr149 T C 3: 62,511,256 (GRCm39) R248G probably benign Het
Hps3 G A 3: 20,076,978 (GRCm39) R395* probably null Het
Inpp5b T C 4: 124,689,219 (GRCm39) L833P probably damaging Het
Itgb4 A T 11: 115,870,557 (GRCm39) S129C probably damaging Het
Kif1a T A 1: 92,974,542 (GRCm39) probably benign Het
Lgr4 T A 2: 109,827,111 (GRCm39) V205E probably damaging Het
Mbd3 T C 10: 80,231,019 (GRCm39) N96S probably damaging Het
Mcam T A 9: 44,048,067 (GRCm39) C136S unknown Het
Mki67 A G 7: 135,299,155 (GRCm39) S1960P probably damaging Het
Mogs G A 6: 83,093,806 (GRCm39) probably null Het
Muc6 T C 7: 141,216,973 (GRCm39) T2567A possibly damaging Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Nae1 A G 8: 105,242,796 (GRCm39) V432A probably benign Het
Nav3 T G 10: 109,602,851 (GRCm39) T1233P probably benign Het
Nme9 G A 9: 99,352,910 (GRCm39) A287T possibly damaging Het
Nmrk1 A G 19: 18,613,499 (GRCm39) I8V probably benign Het
Noa1 T C 5: 77,457,237 (GRCm39) N223D not run Het
Nr4a3 T C 4: 48,051,269 (GRCm39) Y8H probably damaging Het
Or12e1 T A 2: 87,022,709 (GRCm39) V226E possibly damaging Het
Or1j15 T A 2: 36,458,637 (GRCm39) V9E possibly damaging Het
Or2b4 A T 17: 38,116,054 (GRCm39) Q6L probably benign Het
Or4n4b T C 14: 50,536,698 (GRCm39) I23V probably benign Het
Or4p20 T C 2: 88,254,270 (GRCm39) Y33C probably damaging Het
Or52h2 T C 7: 103,839,394 (GRCm39) S7G probably benign Het
Or7g29 C T 9: 19,286,854 (GRCm39) A108T probably benign Het
Or8c9 T C 9: 38,241,012 (GRCm39) V40A possibly damaging Het
Otoa T A 7: 120,733,267 (GRCm39) H711Q probably benign Het
Otogl T A 10: 107,612,981 (GRCm39) E2048D probably benign Het
Paip1 C T 13: 119,587,306 (GRCm39) T390I possibly damaging Het
Pcdha3 A G 18: 37,081,219 (GRCm39) T654A probably benign Het
Pigg G A 5: 108,486,485 (GRCm39) V713I probably benign Het
Ppt1 T A 4: 122,730,126 (GRCm39) H26Q probably benign Het
Prim1 T C 10: 127,862,458 (GRCm39) probably null Het
Prmt7 G T 8: 106,963,918 (GRCm39) A271S probably benign Het
Ptprd T C 4: 76,047,153 (GRCm39) D124G probably benign Het
Rad54l2 T C 9: 106,590,777 (GRCm39) K450E probably benign Het
Rasgrp2 G T 19: 6,451,857 (GRCm39) V13L probably damaging Het
Sapcd2 A G 2: 25,265,978 (GRCm39) probably null Het
Siglecf A G 7: 43,001,194 (GRCm39) Y54C probably damaging Het
Stk31 T A 6: 49,400,340 (GRCm39) N388K probably benign Het
Timm23 A C 14: 31,920,935 (GRCm39) Y52* probably null Het
Tm9sf1 A T 14: 55,873,792 (GRCm39) F569I probably damaging Het
Tmprss9 C A 10: 80,728,843 (GRCm39) A592E probably damaging Het
Trim30d A T 7: 104,121,554 (GRCm39) V397E probably benign Het
Tshz1 A T 18: 84,034,200 (GRCm39) N69K probably damaging Het
Upk2 A C 9: 44,364,808 (GRCm39) S130R probably damaging Het
Vmn1r80 A G 7: 11,926,977 (GRCm39) Y29C probably damaging Het
Vmn2r96 T C 17: 18,793,749 (GRCm39) I31T probably benign Het
Zfp975 T C 7: 42,311,848 (GRCm39) Q255R probably benign Het
Other mutations in Dbr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01642:Dbr1 APN 9 99,458,031 (GRCm39) missense probably damaging 1.00
IGL01952:Dbr1 APN 9 99,464,465 (GRCm39) missense possibly damaging 0.64
IGL01995:Dbr1 APN 9 99,465,952 (GRCm39) missense probably benign 0.00
FR4340:Dbr1 UTSW 9 99,465,754 (GRCm39) unclassified probably benign
FR4342:Dbr1 UTSW 9 99,465,733 (GRCm39) unclassified probably benign
FR4449:Dbr1 UTSW 9 99,465,749 (GRCm39) unclassified probably benign
FR4449:Dbr1 UTSW 9 99,465,727 (GRCm39) unclassified probably benign
FR4449:Dbr1 UTSW 9 99,465,739 (GRCm39) unclassified probably benign
FR4548:Dbr1 UTSW 9 99,465,726 (GRCm39) nonsense probably null
FR4589:Dbr1 UTSW 9 99,465,736 (GRCm39) unclassified probably benign
FR4589:Dbr1 UTSW 9 99,465,749 (GRCm39) unclassified probably benign
FR4589:Dbr1 UTSW 9 99,465,730 (GRCm39) unclassified probably benign
FR4589:Dbr1 UTSW 9 99,465,733 (GRCm39) unclassified probably benign
FR4737:Dbr1 UTSW 9 99,465,752 (GRCm39) unclassified probably benign
FR4737:Dbr1 UTSW 9 99,465,739 (GRCm39) unclassified probably benign
FR4976:Dbr1 UTSW 9 99,465,755 (GRCm39) unclassified probably benign
FR4976:Dbr1 UTSW 9 99,465,742 (GRCm39) unclassified probably benign
FR4976:Dbr1 UTSW 9 99,465,745 (GRCm39) unclassified probably benign
FR4976:Dbr1 UTSW 9 99,465,754 (GRCm39) unclassified probably benign
PIT4131001:Dbr1 UTSW 9 99,466,072 (GRCm39) splice site probably null
R0100:Dbr1 UTSW 9 99,465,722 (GRCm39) missense probably benign 0.01
R1240:Dbr1 UTSW 9 99,466,073 (GRCm39) missense probably benign 0.44
R1502:Dbr1 UTSW 9 99,464,440 (GRCm39) missense probably damaging 1.00
R2265:Dbr1 UTSW 9 99,461,463 (GRCm39) missense probably damaging 1.00
R2279:Dbr1 UTSW 9 99,462,200 (GRCm39) missense probably benign 0.06
R5202:Dbr1 UTSW 9 99,465,944 (GRCm39) missense probably benign 0.00
R7012:Dbr1 UTSW 9 99,465,374 (GRCm39) nonsense probably null
R7025:Dbr1 UTSW 9 99,458,036 (GRCm39) missense probably damaging 1.00
R7037:Dbr1 UTSW 9 99,458,621 (GRCm39) splice site probably null
R7192:Dbr1 UTSW 9 99,458,755 (GRCm39) critical splice donor site probably null
R7350:Dbr1 UTSW 9 99,464,602 (GRCm39) missense
R7396:Dbr1 UTSW 9 99,465,443 (GRCm39) missense probably damaging 1.00
R7601:Dbr1 UTSW 9 99,464,655 (GRCm39) nonsense probably null
R8866:Dbr1 UTSW 9 99,460,497 (GRCm39) nonsense probably null
R9629:Dbr1 UTSW 9 99,464,523 (GRCm39) missense
RF028:Dbr1 UTSW 9 99,465,750 (GRCm39) nonsense probably null
RF033:Dbr1 UTSW 9 99,465,750 (GRCm39) nonsense probably null
RF038:Dbr1 UTSW 9 99,465,750 (GRCm39) unclassified probably benign
RF040:Dbr1 UTSW 9 99,465,750 (GRCm39) nonsense probably null
RF043:Dbr1 UTSW 9 99,465,750 (GRCm39) unclassified probably benign
RF045:Dbr1 UTSW 9 99,465,724 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CCAGACTTGCACTTCACAAAGTTC -3'
(R):5'- GGCATTCACCACATGTCTTCTAG -3'

Sequencing Primer
(F):5'- CTCAATGAATGTGTGCTCGAC -3'
(R):5'- ACATGTCTTCTAGAAGCTGCCCAG -3'
Posted On 2019-11-12