Mutagenetix > Incidental Mutation

Incidental Mutation 'R2265:Dbr1'

244086

Institutional Source

Beutler Lab

Gene Symbol

Dbr1

Ensembl Gene

ENSMUSG00000032469

Gene Name

debranching RNA lariats 1

Synonyms

MMRRC Submission

040265-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2265 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99457852-99466554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99461463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 153 (V153M)

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: V153M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070991
Gene: ENSMUSG00000032469
AA Change: V153M

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

unknown
Transcript: ENSMUST00000138002
AA Change: V66M

SMART Domains

Protein: ENSMUSP00000119924
Gene: ENSMUSG00000032469
AA Change: V66M

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 damaging
Transcript: ENSMUST00000148987
AA Change: V153M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115074
Gene: ENSMUSG00000032469
AA Change: V153M

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

Predicted Effect

unknown
Transcript: ENSMUST00000156035
AA Change: V102M

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	C	1: 12,042,328 (GRCm39)		probably null	Het
Aadac	T	A	3: 59,944,737 (GRCm39)	D136E	probably damaging	Het
Abca16	A	G	7: 120,030,383 (GRCm39)	D165G	probably benign	Het
Adam24	T	A	8: 41,133,110 (GRCm39)	S193T	possibly damaging	Het
Adra2b	T	C	2: 127,205,791 (GRCm39)	S103P	probably damaging	Het
Agrn	C	T	4: 156,263,675 (GRCm39)	G173R	probably damaging	Het
Alg11	T	A	8: 22,555,630 (GRCm39)	V255E	probably benign	Het
Aox1	C	A	1: 58,120,679 (GRCm39)	D857E	probably damaging	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Bdkrb2	A	G	12: 105,558,484 (GRCm39)	T242A	probably benign	Het
Cdca7	T	C	2: 72,312,834 (GRCm39)	L190P	probably benign	Het
Cenpe	A	G	3: 134,967,397 (GRCm39)	T2180A	probably benign	Het
Cep41	T	A	6: 30,660,915 (GRCm39)	I126F	possibly damaging	Het
Col16a1	C	A	4: 129,946,711 (GRCm39)	H111Q	probably benign	Het
Cops3	T	C	11: 59,718,716 (GRCm39)	T193A	probably benign	Het
Ddx4	A	G	13: 112,757,810 (GRCm39)	Y290H	probably benign	Het
Dgkb	T	A	12: 38,240,107 (GRCm39)	S461R	possibly damaging	Het
Dipk2b	A	G	X: 18,289,926 (GRCm39)	S179P	possibly damaging	Het
Dnajc28	T	C	16: 91,413,200 (GRCm39)	N372S	probably benign	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Dock3	C	A	9: 106,818,525 (GRCm39)	V1190F	probably damaging	Het
Exosc1	A	G	19: 41,919,857 (GRCm39)	S54P	probably damaging	Het
Fbxw22	C	T	9: 109,213,062 (GRCm39)	R295K	probably benign	Het
Foxo1	T	C	3: 52,253,333 (GRCm39)	S499P	probably benign	Het
Heatr5a	T	C	12: 51,940,528 (GRCm39)	D1444G	possibly damaging	Het
Hspa2	T	G	12: 76,452,962 (GRCm39)	I552S	probably benign	Het
Imp4	T	A	1: 34,482,928 (GRCm39)	I173N	probably damaging	Het
Itgal	A	G	7: 126,905,873 (GRCm39)	I352V	possibly damaging	Het
Kcnh6	G	A	11: 105,924,643 (GRCm39)	R816Q	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kcnip3	G	T	2: 127,306,981 (GRCm39)	A173D	probably benign	Het
Kir3dl1	A	G	X: 135,425,784 (GRCm39)	R53G	probably benign	Het
Klhl31	A	G	9: 77,557,440 (GRCm39)	D52G	possibly damaging	Het
Klk1b21	T	C	7: 43,753,863 (GRCm39)	I49T	possibly damaging	Het
Lama2	T	A	10: 26,868,932 (GRCm39)	I2838F	probably damaging	Het
Lilrb4a	T	A	10: 51,367,633 (GRCm39)	Y58*	probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mpdz	A	G	4: 81,301,628 (GRCm39)	S266P	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mroh7	T	C	4: 106,578,124 (GRCm39)	N185D	probably benign	Het
Mybphl	A	G	3: 108,272,317 (GRCm39)	E2G	probably damaging	Het
Mycbp2	T	C	14: 103,500,185 (GRCm39)	D937G	probably benign	Het
Myo18b	A	G	5: 112,930,539 (GRCm39)	M1799T	probably damaging	Het
Nr4a2	T	A	2: 57,002,018 (GRCm39)	D145V	possibly damaging	Het
Ntmt1	C	A	2: 30,710,472 (GRCm39)	N58K	probably benign	Het
Or10ak16	A	T	4: 118,751,071 (GRCm39)	R264W	probably damaging	Het
Or2m12	A	G	16: 19,105,305 (GRCm39)	Y63H	probably damaging	Het
Or4f54	A	G	2: 111,123,524 (GRCm39)	T304A	probably benign	Het
Or51f1d	G	A	7: 102,701,344 (GRCm39)	V280I	probably benign	Het
Or52n20	T	C	7: 104,320,067 (GRCm39)	F53L	probably benign	Het
Or8k28	T	C	2: 86,286,558 (GRCm39)	Y19C	possibly damaging	Het
Ovch2	A	T	7: 107,383,782 (GRCm39)	M521K	probably damaging	Het
P2ry13	T	C	3: 59,117,449 (GRCm39)	M110V	probably damaging	Het
P2ry14	T	C	3: 59,022,992 (GRCm39)	N165S	probably damaging	Het
Pcdhb19	A	T	18: 37,630,736 (GRCm39)	H177L	probably damaging	Het
Phf8	T	C	X: 150,355,597 (GRCm39)	L520S	possibly damaging	Het
Pjvk	T	G	2: 76,487,797 (GRCm39)	S230A	possibly damaging	Het
Plch2	T	C	4: 155,077,461 (GRCm39)	E423G	probably benign	Het
Rad9b	T	C	5: 122,489,405 (GRCm39)	Y41C	probably damaging	Het
Ranbp3l	A	T	15: 9,057,194 (GRCm39)	I286F	probably damaging	Het
Rtel1	T	A	2: 180,996,161 (GRCm39)	V739D	probably damaging	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Spg11	A	T	2: 121,938,788 (GRCm39)	C389S	possibly damaging	Het
Srsf4	T	C	4: 131,624,993 (GRCm39)	V130A	probably damaging	Het
Taar8b	T	C	10: 23,967,270 (GRCm39)	N308S	probably damaging	Het
Tas2r117	T	A	6: 132,780,188 (GRCm39)	C109S	probably benign	Het
Tlr5	T	A	1: 182,802,600 (GRCm39)	S635T	possibly damaging	Het
Ttc21a	G	T	9: 119,788,074 (GRCm39)	C833F	possibly damaging	Het
Vash2	T	C	1: 190,682,410 (GRCm39)	N347D	probably damaging	Het
Vcp	G	A	4: 42,980,833 (GRCm39)	A759V	possibly damaging	Het
Vmn2r18	T	C	5: 151,510,127 (GRCm39)	E82G	probably damaging	Het
Vps13c	T	C	9: 67,828,229 (GRCm39)	V1461A	possibly damaging	Het
Zfp616	T	C	11: 73,976,289 (GRCm39)	Y853H	possibly damaging	Het

Other mutations in Dbr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7659:Dbr1	UTSW	9	99,458,663 (GRCm39)	missense	probably damaging	1.00
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'- GTTGGCATGGACTCCACACA -3'
(R):5'- TTCTGTGCTAATTCATCCTAGGG -3'

Sequencing Primer
(F):5'- ACATGGGCGGGCTCTGTG -3'
(R):5'- GTGGTAGTAGTCAAATATTGCA -3'

Posted On

2014-10-16