Mutagenetix > Incidental Mutations

Incidental Mutation 'R7025:Dbr1'

545914

Institutional Source

Beutler Lab

Gene Symbol

Dbr1

Ensembl Gene

ENSMUSG00000032469

Gene Name

debranching RNA lariats 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7025 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99575799-99584501 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99575983 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 19 (T19A)

Ref Sequence

ENSEMBL: ENSMUSP00000070991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066650] [ENSMUST00000139796] [ENSMUST00000148987]

Predicted Effect

probably damaging
Transcript: ENSMUST00000066650
AA Change: T19A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000070991
Gene: ENSMUSG00000032469
AA Change: T19A

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
DBR1	20	128	4.22e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138002

SMART Domains

Protein: ENSMUSP00000119924
Gene: ENSMUSG00000032469

Domain	Start	End	E-Value	Type
Pfam:Metallophos	2	144	5.5e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139796

SMART Domains

Protein: ENSMUSP00000115203
Gene: ENSMUSG00000032469

Domain	Start	End	E-Value	Type
Pfam:DBR1	52	82	1.8e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148987
AA Change: T19A

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115074
Gene: ENSMUSG00000032469
AA Change: T19A

Domain	Start	End	E-Value	Type
DBR1	162	231	1.34e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156035

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.8%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd4	T	A	11: 103,104,538	L90M	probably damaging	Het
Acot7	T	C	4: 152,178,189	S7P	unknown	Het
Ahcyl2	T	C	6: 29,908,421	Y388H	probably damaging	Het
Atp1a2	T	A	1: 172,284,550	R593*	probably null	Het
Bicral	T	C	17: 46,801,668	T869A	probably benign	Het
Brca2	C	T	5: 150,540,478	P1236S	probably benign	Het
Cacna2d1	C	T	5: 16,352,668	Q699*	probably null	Het
Ccser2	T	C	14: 36,940,007	N407D	probably damaging	Het
Cd300lg	A	G	11: 102,043,074	Y49C	probably damaging	Het
Cdh12	C	A	15: 21,358,814	T108K	probably damaging	Het
Ctnnd1	A	T	2: 84,610,606	I715K	possibly damaging	Het
Cyp17a1	T	A	19: 46,670,980	D137V	probably damaging	Het
Dnah3	C	T	7: 120,030,010	A1441T	possibly damaging	Het
Dpt	G	A	1: 164,796,939	D70N	probably damaging	Het
Elk4	C	A	1: 132,019,369	P366Q	probably damaging	Het
Eml4	A	C	17: 83,425,311	D131A	probably benign	Het
Faap24	A	G	7: 35,392,871	I207T	possibly damaging	Het
Fam198b	T	C	3: 79,886,548	Y108H	probably damaging	Het
Fam219a	T	C	4: 41,521,925	S41G	probably benign	Het
Gm15448	T	A	7: 3,821,262	K629*	probably null	Het
Ifi203	T	C	1: 173,928,385		probably benign	Het
Inpp4a	T	C	1: 37,369,423	V295A	probably benign	Het
Kif2a	A	G	13: 106,982,594	Y267H	probably damaging	Het
Kprp	T	A	3: 92,825,197	Q182L	probably benign	Het
Krt90	T	C	15: 101,557,175	K337R	possibly damaging	Het
Lrp2	T	A	2: 69,483,028	Y2453F	possibly damaging	Het
Magel2	A	C	7: 62,379,787	Y813S	unknown	Het
Myh7	C	A	14: 54,974,644	E1548*	probably null	Het
Myh8	A	G	11: 67,297,539	T1009A	probably benign	Het
Nab2	T	A	10: 127,666,508		probably benign	Het
Neb	T	C	2: 52,296,273	D929G	possibly damaging	Het
Nelfb	A	C	2: 25,210,493	V155G	probably damaging	Het
Nmur1	C	A	1: 86,387,848	M65I	possibly damaging	Het
Nop56	C	T	2: 130,277,881	R81*	probably null	Het
Npnt	C	T	3: 132,908,396	C47Y	probably damaging	Het
Nrp1	G	T	8: 128,480,954	C610F	probably damaging	Het
Olfr1175-ps	T	C	2: 88,323,262	K148E	probably damaging	Het
Olfr1243	T	A	2: 89,527,604	I269F	probably damaging	Het
Olfr766-ps1	T	A	10: 129,064,675	M1L	probably benign	Het
Pax5	G	A	4: 44,679,501	Q93*	probably null	Het
Pcnt	G	T	10: 76,403,835	Q1273K	probably damaging	Het
Pde4dip	G	A	3: 97,724,183	Q1137*	probably null	Het
Pfas	A	T	11: 68,990,760	D959E	probably benign	Het
Prex1	TCCGACCCC	TCCGACCCCGACCCC	2: 166,613,187		probably benign	Het
Prpf40b	C	T	15: 99,306,400	Q182*	probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Rpe65	A	C	3: 159,622,685	E406A	probably damaging	Het
Serpina3k	A	T	12: 104,341,142	Y211F	probably benign	Het
Shkbp1	T	C	7: 27,355,281	I65V	possibly damaging	Het
Slc22a29	G	A	19: 8,160,580	P544S	probably benign	Het
Stab2	T	C	10: 86,850,837	D2281G	probably damaging	Het
Tjp2	A	G	19: 24,132,688	M64T	probably benign	Het
Tnfrsf8	C	T	4: 145,274,403	V378I	possibly damaging	Het
Trpm1	A	T	7: 64,226,714		probably null	Het
Ubqln3	A	G	7: 104,141,275	I536T	probably benign	Het
Vmn1r44	A	G	6: 89,893,754	T161A	possibly damaging	Het
Vmn2r108	T	A	17: 20,471,083	I393F	possibly damaging	Het

Other mutations in Dbr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01642:Dbr1	APN	9	99575978	missense	probably damaging	1.00
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	splice site	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
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
R7601:Dbr1	UTSW	9	99582602	nonsense	probably null
R7659:Dbr1	UTSW	9	99576610	missense	probably damaging	1.00
RF028:Dbr1	UTSW	9	99583697	nonsense	probably null
RF033:Dbr1	UTSW	9	99583697	nonsense	probably null
RF038:Dbr1	UTSW	9	99583697	unclassified	probably benign
RF040:Dbr1	UTSW	9	99583697	nonsense	probably null
RF043:Dbr1	UTSW	9	99583697	unclassified	probably benign
RF045:Dbr1	UTSW	9	99583671	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TAAAGGACTCGAAACTCAGCCG -3'
(R):5'- AACAGACATCGCGATCTGC -3'

Sequencing Primer
(F):5'- GCGGCTCGGTTGGTGTTG -3'
(R):5'- AGCAGGACCTGGAACCC -3'

Posted On

2019-05-13