Mutagenetix > Incidental Mutation

Incidental Mutation 'R9629:Dbr1'

725361

Institutional Source

Beutler Lab

Gene Symbol

Dbr1

Ensembl Gene

ENSMUSG00000032469

Gene Name

debranching RNA lariats 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9629 (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 A at 99464523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 101 (C101S)

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: C101S

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: 99.9%
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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	C	14: 35,532,134 (GRCm39)	E147G	probably damaging	Het
Agrn	G	A	4: 156,257,094 (GRCm39)	Q1217*	probably null	Het
Ankrd13c	G	C	3: 157,653,313 (GRCm39)	K50N	probably benign	Het
Anks3	C	T	16: 4,775,565 (GRCm39)	S144N	probably damaging	Het
Apob	A	T	12: 8,059,054 (GRCm39)	D2512V	probably damaging	Het
Arhgap45	A	G	10: 79,863,694 (GRCm39)	K815E	probably damaging	Het
Atr	T	A	9: 95,747,098 (GRCm39)	C127S	probably benign	Het
B4galnt4	A	G	7: 140,648,575 (GRCm39)	D697G	probably damaging	Het
C2cd3	C	T	7: 100,029,249 (GRCm39)	L134F	probably damaging	Het
Celsr2	C	T	3: 108,308,915 (GRCm39)	G1697D	probably damaging	Het
Cep170	A	G	1: 176,583,821 (GRCm39)	S88P	possibly damaging	Het
Cnot1	A	G	8: 96,455,874 (GRCm39)	V1961A	probably damaging	Het
Cntnap4	A	G	8: 113,568,349 (GRCm39)	N795S	probably damaging	Het
Cog2	T	A	8: 125,260,125 (GRCm39)	V256D	possibly damaging	Het
Col14a1	A	G	15: 55,382,545 (GRCm39)	Y515C		Het
Cox7a1	A	G	7: 29,884,583 (GRCm39)	Q30R	probably damaging	Het
Cs	T	C	10: 128,196,885 (GRCm39)	S427P	probably damaging	Het
Dhcr7	C	A	7: 143,401,212 (GRCm39)	Y461*	probably null	Het
Dis3l2	T	A	1: 86,974,784 (GRCm39)	M691K	probably benign	Het
Dnah17	T	C	11: 117,979,804 (GRCm39)	D1751G	probably damaging	Het
Dock10	A	T	1: 80,481,389 (GRCm39)	I536K		Het
Dok6	G	T	18: 89,491,988 (GRCm39)	F196L	possibly damaging	Het
Epx	C	T	11: 87,755,651 (GRCm39)	D678N	probably damaging	Het
Fcrlb	G	C	1: 170,739,735 (GRCm39)	P56A	probably benign	Het
Flrt3	T	C	2: 140,502,816 (GRCm39)	R271G	possibly damaging	Het
Galnt15	T	A	14: 31,774,301 (GRCm39)	L479Q	probably damaging	Het
Gfy	G	A	7: 44,827,785 (GRCm39)	L104F	probably benign	Het
Gltp	C	T	5: 114,814,382 (GRCm39)	M80I	probably benign	Het
Gm21560	G	A	14: 6,218,250 (GRCm38)	T76I	probably benign	Het
Gm5150	A	G	3: 16,044,829 (GRCm39)	I132T	probably benign	Het
Hdac9	T	C	12: 34,439,389 (GRCm39)	H437R	probably damaging	Het
Hpgd	C	A	8: 56,751,419 (GRCm39)	F82L		Het
Ifi207	GAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGACTATTGGATGGTGTTGATAGAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGAT	GAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGACTATTGGATGGTGTTGATAGAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGAT	1: 173,556,561 (GRCm39)		probably benign	Het
Ilrun	A	T	17: 28,012,913 (GRCm39)	F95I	probably damaging	Het
Itgb5	C	T	16: 33,696,295 (GRCm39)	T162I	probably damaging	Het
Jakmip3	G	A	7: 138,625,118 (GRCm39)		probably null	Het
Kctd1	A	T	18: 15,196,611 (GRCm39)	M4K	unknown	Het
Kirrel1	C	A	3: 87,003,025 (GRCm39)	E123*	probably null	Het
Krt87	G	C	15: 101,389,048 (GRCm39)	P95A	probably benign	Het
Man1a	A	T	10: 53,796,158 (GRCm39)	H511Q	probably damaging	Het
Megf8	A	G	7: 25,043,194 (GRCm39)	D1372G	possibly damaging	Het
Mrgprd	A	G	7: 144,875,189 (GRCm39)	D20G	probably benign	Het
Mrpl54	C	T	10: 81,101,528 (GRCm39)	G78S	probably damaging	Het
Myl1	T	A	1: 66,969,448 (GRCm39)	E61D	probably benign	Het
Myo7a	G	T	7: 97,712,937 (GRCm39)	H1679Q	probably benign	Het
Naca	A	G	10: 127,878,226 (GRCm39)	E1086G	unknown	Het
Nagpa	C	G	16: 5,017,829 (GRCm39)	D258H	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nr2f6	G	A	8: 71,827,171 (GRCm39)	L377F	probably damaging	Het
Ntsr1	G	A	2: 180,183,274 (GRCm39)	R328H	probably damaging	Het
Nup93	G	A	8: 95,033,267 (GRCm39)	S592N	probably damaging	Het
Or10a2	A	T	7: 106,673,164 (GRCm39)	N43I	probably damaging	Het
Or4k40	T	A	2: 111,251,137 (GRCm39)	H53L	probably benign	Het
Or8g36	T	C	9: 39,422,497 (GRCm39)	D173G	probably benign	Het
Pard3	T	C	8: 128,136,153 (GRCm39)	V842A	possibly damaging	Het
Phospho2	T	A	2: 69,626,295 (GRCm39)	N150K	probably damaging	Het
Piwil1	T	C	5: 128,831,051 (GRCm39)	S791P	probably damaging	Het
Pkhd1	A	G	1: 20,462,437 (GRCm39)	V2039A	possibly damaging	Het
Ppp1r3c	A	G	19: 36,711,404 (GRCm39)	I122T	probably benign	Het
Prrc2c	A	G	1: 162,519,959 (GRCm39)	Y2131H	possibly damaging	Het
Qtrt2	T	C	16: 43,683,540 (GRCm39)	M311V	possibly damaging	Het
Rbbp4	T	C	4: 129,212,243 (GRCm39)	D346G	probably damaging	Het
Slc13a5	A	G	11: 72,138,578 (GRCm39)	I455T	probably damaging	Het
Slc28a3	A	T	13: 58,717,187 (GRCm39)	Y366*	probably null	Het
Srgap1	T	A	10: 121,705,746 (GRCm39)	Q226L	probably benign	Het
Syt17	A	G	7: 118,007,379 (GRCm39)	V362A	probably damaging	Het
Tas2r117	T	C	6: 132,780,374 (GRCm39)	S171P	probably benign	Het
Tfap2b	A	T	1: 19,289,468 (GRCm39)	I198F	probably damaging	Het
Tg	A	T	15: 66,555,587 (GRCm39)	I760F	possibly damaging	Het
Tmem123	T	C	9: 7,790,984 (GRCm39)	V95A	possibly damaging	Het
Tmem198b	C	A	10: 128,638,386 (GRCm39)	G59V	probably damaging	Het
Tmem30c	T	G	16: 57,096,585 (GRCm39)	I179L	probably benign	Het
Tmprss2	A	T	16: 97,369,702 (GRCm39)	D357E	probably benign	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Trex1	A	T	9: 108,887,632 (GRCm39)	C120S	probably damaging	Het
Ttc8	A	G	12: 98,886,965 (GRCm39)	S13G	possibly damaging	Het
Ttll7	T	C	3: 146,621,487 (GRCm39)	I362T	probably damaging	Het
Usp34	A	T	11: 23,314,364 (GRCm39)	T769S		Het
Vmn1r185	G	T	7: 26,311,439 (GRCm39)	T22K	probably damaging	Het
Vmn1r39	T	G	6: 66,781,578 (GRCm39)	M247L	probably benign	Het
Vmn2r96	A	G	17: 18,803,257 (GRCm39)	D389G	probably benign	Het
Xirp1	C	T	9: 119,846,379 (GRCm39)	V835I	probably benign	Het
Ylpm1	T	G	12: 85,044,036 (GRCm39)	I258S	unknown	Het
Zfp971	A	T	2: 177,675,417 (GRCm39)	S339C	probably 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
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
R7659:Dbr1	UTSW	9	99,458,663 (GRCm39)	missense	probably damaging	1.00
R8866:Dbr1	UTSW	9	99,460,497 (GRCm39)	nonsense	probably null
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'- AATTTCCGATTTTGTCCTCTAGGTG -3'
(R):5'- ATATCCCTAAGTTAGGCCCAATC -3'

Sequencing Primer
(F):5'- TGTTAGAGATAGAACATGACCCC -3'
(R):5'- TACAGCTCACAGGTCATCGAG -3'

Posted On

2022-09-12