Mutagenetix > Incidental Mutations

Incidental Mutation 'R1623:Ruvbl1'

174784

Institutional Source

Beutler Lab

Gene Symbol

Ruvbl1

Ensembl Gene

ENSMUSG00000030079

Gene Name

RuvB-like protein 1

Synonyms

Tip49a, 2510009G06Rik, Pontin52

MMRRC Submission

039660-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R1623 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88465409-88497572 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88485770 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 292 (A292V)

Ref Sequence

ENSEMBL: ENSMUSP00000032165 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032165] [ENSMUST00000129035]

Predicted Effect

probably damaging
Transcript: ENSMUST00000032165
AA Change: A292V

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

SMART Domains

Protein: ENSMUSP00000032165
Gene: ENSMUSG00000030079
AA Change: A292V

Domain	Start	End	E-Value	Type
AAA	62	365	1.51e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129035

SMART Domains

Protein: ENSMUSP00000117925
Gene: ENSMUSG00000030079

Domain	Start	End	E-Value	Type
Pfam:AAA_19	1	77	1.3e-7	PFAM
Pfam:TIP49	1	134	2.7e-60	PFAM
Pfam:RuvB_N	2	52	5.5e-7	PFAM
Pfam:AAA	6	80	1.5e-10	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 94.9%
20x: 87.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcriptional complexes and with protein complexes involved in both ATP-dependent remodeling and histone modification. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null allele show impaired proliferation of the pluripotent inner mass cells and embryonic lethality before implantation. Conditional ablation of this gene in hematopoietic tissues leads to bone marrow failure involving apoptotic loss of hematopoietic stem cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	G	A	17: 25,947,534	P343L	probably benign	Het
Acbd5	A	T	2: 23,094,344	D294V	probably damaging	Het
Actn2	A	T	13: 12,340,439	I21N	probably benign	Het
Adamts2	C	A	11: 50,668,115	P219H	possibly damaging	Het
Atg16l2	A	G	7: 101,289,906	F584L	probably benign	Het
Ccdc81	C	T	7: 89,886,182	R282Q	probably benign	Het
Cd200r3	G	A	16: 44,951,448	C25Y	possibly damaging	Het
Cdkl4	C	T	17: 80,556,302		probably null	Het
Chrne	T	C	11: 70,618,428	E109G	possibly damaging	Het
Clmp	A	G	9: 40,782,560	T358A	probably benign	Het
Cmtr1	G	T	17: 29,687,047		probably null	Het
Col25a1	A	G	3: 130,550,050	E389G	probably damaging	Het
Ctc1	C	T	11: 69,021,142	T49M	probably damaging	Het
Cyth3	T	A	5: 143,701,372	M120K	probably damaging	Het
D430041D05Rik	T	A	2: 104,152,963	E1996V	probably damaging	Het
Dnah9	T	C	11: 66,037,637	M2069V	probably damaging	Het
Dsg1c	T	C	18: 20,275,177	Y428H	probably damaging	Het
Exosc8	T	A	3: 54,734,331	T7S	probably damaging	Het
F5	A	G	1: 164,195,622	Y1583C	probably damaging	Het
Fam178b	A	G	1: 36,644,324	I105T	probably damaging	Het
Fam181a	T	A	12: 103,316,332	Y165*	probably null	Het
Fam212b	G	A	3: 105,716,820	G151D	probably damaging	Het
Fbn2	G	T	18: 58,048,548	N1880K	possibly damaging	Het
Gbgt1	A	T	2: 28,504,976	M209L	probably benign	Het
Gkn2	C	A	6: 87,378,170	Y120*	probably null	Het
Gm14295	T	A	2: 176,807,364	D1E	probably damaging	Het
Gpr141	A	T	13: 19,751,912		probably null	Het
Gramd3	C	A	18: 56,432,351	P26Q	probably benign	Het
Greb1	A	G	12: 16,674,770	I1801T	probably damaging	Het
Gstm3	T	A	3: 107,967,835	I64F	possibly damaging	Het
Gtse1	A	G	15: 85,867,578	Y324C	probably benign	Het
Hal	C	G	10: 93,516,297	T650R	probably benign	Het
Hdac7	G	A	15: 97,808,404	Q293*	probably null	Het
Hdlbp	A	T	1: 93,423,869	N437K	probably damaging	Het
Hif1an	A	G	19: 44,569,423	D248G	probably damaging	Het
Hivep3	T	C	4: 120,095,704	S406P	possibly damaging	Het
Hmcn2	A	T	2: 31,458,039	D4899V	possibly damaging	Het
Ikzf3	C	T	11: 98,490,331		probably null	Het
Itgb4	C	A	11: 115,991,316	Y819*	probably null	Het
Itpripl1	T	C	2: 127,141,635	D189G	possibly damaging	Het
Kmt2e	A	G	5: 23,482,502	Y450C	probably damaging	Het
Mc4r	A	G	18: 66,859,997	L15P	probably benign	Het
Mical1	T	G	10: 41,481,393		probably null	Het
Mical3	C	T	6: 121,024,807	V575M	probably damaging	Het
Mki67	A	T	7: 135,708,818		probably null	Het
Mocs2	G	A	13: 114,824,622	E52K	probably benign	Het
Myo7b	T	C	18: 32,000,051	N415S	probably damaging	Het
Notch1	G	A	2: 26,478,612	T555I	possibly damaging	Het
Notch3	T	C	17: 32,139,191	D1686G	probably benign	Het
Oit3	A	G	10: 59,428,239	F358L	probably damaging	Het
Olfr417	A	C	1: 174,368,949	I11L	probably benign	Het
Olfr424	A	T	1: 174,137,317	D191V	probably damaging	Het
Orai1	T	A	5: 123,029,202	I146N	probably damaging	Het
Pck1	A	G	2: 173,154,718	I142V	probably benign	Het
Pdap1	C	T	5: 145,132,929	V89M	possibly damaging	Het
Phf11a	T	C	14: 59,287,551	D68G	possibly damaging	Het
Pilrb2	T	C	5: 137,871,248	N30S	probably damaging	Het
Pkd1	G	A	17: 24,578,269	V2551I	probably damaging	Het
Pnpla7	T	C	2: 25,052,599	V132A	probably damaging	Het
Rad18	C	T	6: 112,628,519	S398N	probably damaging	Het
Rdh16f1	C	A	10: 127,790,853	N258K	probably benign	Het
Riox2	A	G	16: 59,483,042	H240R	probably damaging	Het
Ryr1	C	T	7: 29,095,490	G1151S	probably damaging	Het
Serpinb9b	T	C	13: 33,029,565	I35T	possibly damaging	Het
Slc1a1	T	A	19: 28,904,722	M328K	probably benign	Het
Slc7a13	A	T	4: 19,824,031	T267S	possibly damaging	Het
Speer3	G	T	5: 13,796,321	M218I	probably benign	Het
Sptan1	A	G	2: 29,986,420	I271V	probably damaging	Het
Swap70	A	G	7: 110,264,048	T195A	probably benign	Het
Tgs1	T	A	4: 3,585,964	N280K	probably benign	Het
Tonsl	A	G	15: 76,638,509	C181R	probably damaging	Het
Trdn	A	G	10: 33,258,102	K333R	possibly damaging	Het
Trpc4	T	A	3: 54,299,179	M600K	probably damaging	Het
Ubr3	C	T	2: 69,977,723	Q1183*	probably null	Het
Ubxn4	T	A	1: 128,272,851	L360I	possibly damaging	Het
Ugt2b1	T	A	5: 86,926,408	T31S	probably benign	Het
Uspl1	T	C	5: 149,215,199	S1056P	probably damaging	Het
Vmn2r60	A	T	7: 42,135,855	K164*	probably null	Het
Vwce	T	A	19: 10,646,744	L333*	probably null	Het
Wdr95	T	A	5: 149,574,116	L253Q	probably damaging	Het
Wisp1	G	T	15: 66,891,599	V12L	possibly damaging	Het
Zfp113	T	C	5: 138,145,668	M107V	probably benign	Het
Zfp142	T	C	1: 74,571,775	T851A	possibly damaging	Het

Other mutations in Ruvbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Ruvbl1	APN	6	88484403	unclassified	probably benign
IGL00473:Ruvbl1	APN	6	88491568	missense	probably damaging	1.00
IGL01768:Ruvbl1	APN	6	88497271	missense	probably benign
IGL03354:Ruvbl1	APN	6	88479215	nonsense	probably null
R0106:Ruvbl1	UTSW	6	88473200	missense	probably damaging	1.00
R0106:Ruvbl1	UTSW	6	88473200	missense	probably damaging	1.00
R0145:Ruvbl1	UTSW	6	88484459	missense	possibly damaging	0.90
R0676:Ruvbl1	UTSW	6	88473200	missense	probably damaging	1.00
R1448:Ruvbl1	UTSW	6	88467569	missense	probably benign	0.05
R1561:Ruvbl1	UTSW	6	88479154	missense	probably damaging	1.00
R1574:Ruvbl1	UTSW	6	88479154	missense	probably damaging	1.00
R2113:Ruvbl1	UTSW	6	88483021	missense	probably damaging	0.99
R2372:Ruvbl1	UTSW	6	88485797	missense	possibly damaging	0.53
R2397:Ruvbl1	UTSW	6	88465552	missense	possibly damaging	0.71
R2894:Ruvbl1	UTSW	6	88479132	missense	possibly damaging	0.87
R4037:Ruvbl1	UTSW	6	88473135	missense	probably damaging	1.00
R4604:Ruvbl1	UTSW	6	88485905	missense	probably benign
R4684:Ruvbl1	UTSW	6	88491599	missense	probably benign	0.00
R4714:Ruvbl1	UTSW	6	88484430	missense	possibly damaging	0.61
R4835:Ruvbl1	UTSW	6	88497229	missense	possibly damaging	0.69
R4939:Ruvbl1	UTSW	6	88483039	splice site	probably null
R5114:Ruvbl1	UTSW	6	88497290	missense	probably benign	0.41
R5126:Ruvbl1	UTSW	6	88485901	missense	probably benign	0.13
R5296:Ruvbl1	UTSW	6	88485908	missense	probably damaging	0.99
R5507:Ruvbl1	UTSW	6	88467600	missense	probably benign	0.00
R5559:Ruvbl1	UTSW	6	88473096	missense	possibly damaging	0.90
R5819:Ruvbl1	UTSW	6	88483115	splice site	probably null
R6048:Ruvbl1	UTSW	6	88482991	missense	possibly damaging	0.90
R6155:Ruvbl1	UTSW	6	88479125	critical splice acceptor site	probably null
R6564:Ruvbl1	UTSW	6	88479226	missense	possibly damaging	0.93
R6704:Ruvbl1	UTSW	6	88479205	missense	probably benign	0.06
R7681:Ruvbl1	UTSW	6	88467653	critical splice donor site	probably null
R8071:Ruvbl1	UTSW	6	88473126	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAAACAACTTTAGGGAAAGCTGCC -3'
(R):5'- CCTATGCGACCATTACTTCGCACAC -3'

Sequencing Primer
(F):5'- CTTTAGGGAAAGCTGCCAGTTC -3'
(R):5'- TGGGAAGACCTTCCTCATCAG -3'

Posted On

2014-04-24