Mutagenetix > Incidental Mutation

Incidental Mutation 'R7350:Dbr1'

570510

Institutional Source

Beutler Lab

Gene Symbol

Dbr1

Ensembl Gene

ENSMUSG00000032469

Gene Name

debranching RNA lariats 1

Synonyms

MMRRC Submission

045436-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99457852-99466554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99464602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 127 (F127S)

Gene Model

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

AlphaFold

Q923B1

Predicted Effect

probably benign
Transcript: ENSMUST00000066650

SMART Domains

Protein: ENSMUSP00000070991
Gene: ENSMUSG00000032469

Domain	Start	End	E-Value	Type
Pfam:Metallophos	1	230	1.8e-11	PFAM
DBR1	235	380	8.27e-85	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000114670
Gene: ENSMUSG00000032469
AA Change: F127S

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

SMART Domains

Protein: ENSMUSP00000115074
Gene: ENSMUSG00000032469

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: 99.7%
20x: 99.1%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	T	C	7: 132,476,578 (GRCm39)	F106S	probably damaging	Het
Acsf3	A	G	8: 123,512,685 (GRCm39)	T369A	probably benign	Het
Adgrf5	G	A	17: 43,739,335 (GRCm39)		probably null	Het
Aff1	T	A	5: 103,994,958 (GRCm39)	I1052K	probably benign	Het
Akap8	T	C	17: 32,535,549 (GRCm39)	D155G	possibly damaging	Het
Alg10b	A	T	15: 90,111,653 (GRCm39)	M166L	probably benign	Het
Allc	T	A	12: 28,613,408 (GRCm39)	Q178L	possibly damaging	Het
Angptl4	C	A	17: 33,996,084 (GRCm39)	L297F	probably damaging	Het
Arfgap1	A	G	2: 180,612,869 (GRCm39)	K8E	possibly damaging	Het
Bckdhb	T	A	9: 83,892,379 (GRCm39)	V270E	possibly damaging	Het
Cbx3	T	C	6: 51,452,355 (GRCm39)		probably null	Het
Cd44	G	T	2: 102,664,607 (GRCm39)	N531K	probably benign	Het
Cdh23	A	T	10: 60,246,689 (GRCm39)	D916E	probably damaging	Het
Cr2	A	G	1: 194,837,594 (GRCm39)	V792A	probably benign	Het
Cstf3	T	C	2: 104,439,301 (GRCm39)	L38P	probably damaging	Het
Cyp2a5	A	G	7: 26,536,208 (GRCm39)	E151G	probably benign	Het
Ddit4	A	T	10: 59,787,317 (GRCm39)	D6E	probably damaging	Het
Disc1	G	C	8: 125,891,841 (GRCm39)	R631S	probably damaging	Het
Dnah5	T	A	15: 28,235,965 (GRCm39)		probably null	Het
Dnah9	T	C	11: 65,971,404 (GRCm39)	K1595E	probably damaging	Het
Dnmbp	T	C	19: 43,889,944 (GRCm39)	R608G	probably damaging	Het
Efcab5	G	C	11: 77,028,387 (GRCm39)	P315A	probably benign	Het
Eif4a2	A	G	16: 22,932,012 (GRCm39)	Y392C	possibly damaging	Het
F5	G	T	1: 164,020,277 (GRCm39)	K917N	probably benign	Het
Fig4	T	C	10: 41,127,752 (GRCm39)	M571V	probably benign	Het
Flot2	T	A	11: 77,948,802 (GRCm39)	I259N	probably damaging	Het
Gm8122	C	A	14: 43,088,058 (GRCm39)		probably null	Het
Gpr152	T	C	19: 4,192,963 (GRCm39)	V168A	possibly damaging	Het
H1f0	G	A	15: 78,913,103 (GRCm39)	G61D	probably damaging	Het
Ihh	T	A	1: 74,987,492 (GRCm39)	K183M	probably damaging	Het
Itga2	A	G	13: 114,973,738 (GRCm39)	L1116P	probably damaging	Het
Kcnj10	A	G	1: 172,196,827 (GRCm39)	T114A	possibly damaging	Het
Kcnk3	T	G	5: 30,779,310 (GRCm39)	L120R	probably damaging	Het
Krt14	C	A	11: 100,095,926 (GRCm39)	E211*	probably null	Het
Lars2	T	C	9: 123,256,545 (GRCm39)	L350P	probably damaging	Het
Lrba	T	C	3: 86,259,209 (GRCm39)	I1408T	probably damaging	Het
Lrrc27	A	G	7: 138,806,022 (GRCm39)	E229G	probably benign	Het
Lrrc8e	G	T	8: 4,285,626 (GRCm39)	R617L	probably benign	Het
M1ap	A	G	6: 82,958,930 (GRCm39)	D187G	probably benign	Het
Marchf1	A	T	8: 66,921,051 (GRCm39)	K243*	probably null	Het
Med16	C	T	10: 79,739,031 (GRCm39)	V252M	probably damaging	Het
Micu3	T	C	8: 40,801,999 (GRCm39)	S189P	probably benign	Het
Mier2	C	A	10: 79,376,132 (GRCm39)	M264I	unknown	Het
Mindy4	A	T	6: 55,278,010 (GRCm39)	N618I	probably damaging	Het
Mmrn1	C	T	6: 60,953,320 (GRCm39)	Q534*	probably null	Het
Mroh9	C	T	1: 162,903,858 (GRCm39)		probably null	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Mta3	T	A	17: 84,015,870 (GRCm39)	I24N	probably damaging	Het
Mtmr4	A	T	11: 87,491,476 (GRCm39)	H147L	probably damaging	Het
Nfam1	T	C	15: 82,894,640 (GRCm39)	K155R	probably benign	Het
Nlrp6	A	T	7: 140,501,191 (GRCm39)		probably benign	Het
Or1q1	T	A	2: 36,886,873 (GRCm39)	I17N	possibly damaging	Het
Or5d37	A	T	2: 87,923,542 (GRCm39)	F246Y	probably benign	Het
Or5w20	T	C	2: 87,726,753 (GRCm39)		probably benign	Het
Or6d13	A	G	6: 116,517,495 (GRCm39)	E27G	probably benign	Het
Or9g4	A	G	2: 85,505,189 (GRCm39)	F102S		Het
P4ha1	A	G	10: 59,186,240 (GRCm39)	R240G	probably damaging	Het
Pla2r1	G	T	2: 60,288,723 (GRCm39)	D636E	probably benign	Het
Polr2a	A	G	11: 69,631,886 (GRCm39)	L1060P	possibly damaging	Het
Prr35	A	T	17: 26,165,685 (GRCm39)	V534D	probably damaging	Het
Ptgdr2	C	A	19: 10,918,319 (GRCm39)	Q279K	probably benign	Het
Rab11fip2	T	A	19: 59,925,853 (GRCm39)	R121S	probably benign	Het
Rasa2	T	C	9: 96,426,408 (GRCm39)	S813G	probably benign	Het
Rassf5	T	C	1: 131,106,273 (GRCm39)	K411E	possibly damaging	Het
Reep4	T	C	14: 70,783,987 (GRCm39)	Y35H	probably damaging	Het
Ror1	A	T	4: 100,283,140 (GRCm39)	M402L	probably benign	Het
Slc32a1	A	G	2: 158,456,326 (GRCm39)	E327G	probably damaging	Het
Spen	C	T	4: 141,206,696 (GRCm39)	E644K	unknown	Het
Tars3	C	G	7: 65,308,672 (GRCm39)	Q281E	probably damaging	Het
Tcl1	A	G	12: 105,184,934 (GRCm39)	I92T	probably damaging	Het
Tifab	A	G	13: 56,324,120 (GRCm39)	S108P	probably damaging	Het
Traf1	T	C	2: 34,838,245 (GRCm39)	N198D	probably benign	Het
Trim35	T	C	14: 66,546,654 (GRCm39)	Y474H	probably damaging	Het
Trim54	T	A	5: 31,294,505 (GRCm39)	D344E	probably benign	Het
Ttc28	A	T	5: 111,373,903 (GRCm39)	H1113L	probably damaging	Het
Vcam1	T	A	3: 115,908,211 (GRCm39)	D617V	probably damaging	Het
Vmn2r81	A	T	10: 79,104,219 (GRCm39)	T281S	probably benign	Het
Whrn	C	T	4: 63,350,196 (GRCm39)	R507K	possibly damaging	Het
Zdhhc14	A	G	17: 5,777,151 (GRCm39)	S303G	probably benign	Het
Zfp292	A	T	4: 34,806,839 (GRCm39)	N2073K	probably benign	Het
Zgpat	T	A	2: 181,022,228 (GRCm39)	V163D		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
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
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'- GCTCCTGAGTACTTAGAGTATGAC -3'
(R):5'- AGTACAAAGTTGGGGTCTCATGG -3'

Sequencing Primer
(F):5'- AGAGTATGACGTTGAATGGCTTAC -3'
(R):5'- ATGGCCAGTCAGTGCCAGAAC -3'

Posted On

2019-09-13