Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00230:Ruvbl1'

2376

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ruvbl1

Ensembl Gene

ENSMUSG00000030079

Gene Name

RuvB-like protein 1

Synonyms

Tip49a, 2510009G06Rik, Pontin52

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.970) question?

Stock #

IGL00230

Quality Score

Status

Chromosome

Chromosomal Location

88465409-88497572 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 88484403 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117925 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000032165

SMART Domains

Protein: ENSMUSP00000032165
Gene: ENSMUSG00000030079

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bin1	C	T	18: 32,420,107	A215V	probably damaging	Het
Cyp2j6	C	T	4: 96,536,046	R158H	possibly damaging	Het
Dnaaf2	T	C	12: 69,196,766	D507G	probably benign	Het
Fam13b	T	C	18: 34,487,096	E245G	possibly damaging	Het
Gal3st1	A	T	11: 3,999,070		probably benign	Het
Galnt5	A	T	2: 57,998,973	Q195L	probably benign	Het
Gfm2	A	G	13: 97,155,442	T229A	probably benign	Het
Gigyf1	A	G	5: 137,522,745		probably benign	Het
Gm4353	G	T	7: 116,083,554	T264K	probably damaging	Het
Gsk3b	A	T	16: 38,228,707	I389F	probably benign	Het
Hist1h2bm	G	T	13: 21,722,375	R93L	possibly damaging	Het
Htt	A	G	5: 34,799,408	T194A	probably benign	Het
Ighg3	T	C	12: 113,359,837	Y273C	unknown	Het
Kdm5b	T	A	1: 134,620,955	V1066D	probably damaging	Het
Kif1a	G	T	1: 93,054,934	A707E	probably damaging	Het
Maats1	A	G	16: 38,336,342		probably null	Het
Mars	A	G	10: 127,298,006	M674T	probably benign	Het
Mas1	T	C	17: 12,841,990	D182G	probably benign	Het
Metap1d	T	A	2: 71,512,162	D178E	probably damaging	Het
Nhsl1	T	A	10: 18,527,609	D1329E	probably benign	Het
Ninl	T	C	2: 150,966,241	E289G	probably damaging	Het
Pmel	G	T	10: 128,716,089	G264V	possibly damaging	Het
Scn8a	T	A	15: 100,955,532		probably benign	Het
Sept9	T	C	11: 117,354,804		probably benign	Het
Sgpp1	G	T	12: 75,716,194	Y404*	probably null	Het
Sgsm1	T	C	5: 113,245,064	I788V	probably benign	Het
Slc13a4	A	T	6: 35,289,824	M112K	probably benign	Het
Slc22a29	T	C	19: 8,217,813	M153V	probably benign	Het
Slc9c1	T	G	16: 45,573,389	V565G	possibly damaging	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Tec	C	T	5: 72,768,768	A314T	probably damaging	Het
Tg	A	G	15: 66,827,290	I803V	probably benign	Het
Trav9-1	A	T	14: 53,488,393	I55F	probably benign	Het
Ttll12	C	A	15: 83,578,656	E536D	probably benign	Het
Ubqln1	C	A	13: 58,177,992	E152*	probably null	Het
Wwtr1	G	A	3: 57,463,491	T338I	probably benign	Het
Zdhhc16	T	C	19: 41,939,660	F206S	probably benign	Het

Other mutations in Ruvbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1623:Ruvbl1	UTSW	6	88485770	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

Posted On

2011-12-09