Mutagenetix > Incidental Mutation

Incidental Mutation 'R3017:Ruvbl2'

257668

Institutional Source

Beutler Lab

Gene Symbol

Ruvbl2

Ensembl Gene

ENSMUSG00000003868

Gene Name

RuvB-like AAA ATPase 2

Synonyms

p47, mp47

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3017 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45071320-45084817 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45071588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 432 (L432I)

Ref Sequence

ENSEMBL: ENSMUSP00000147502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058879] [ENSMUST00000072453] [ENSMUST00000107771] [ENSMUST00000210271] [ENSMUST00000210439] [ENSMUST00000211214] [ENSMUST00000211666]

AlphaFold

Q9WTM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000033087
AA Change: L432I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033087
Gene: ENSMUSG00000003868
AA Change: L432I

Domain	Start	End	E-Value	Type
AAA	69	361	5.17e-10	SMART
Blast:AAA	373	417	3e-17	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000058879

SMART Domains

Protein: ENSMUSP00000057916
Gene: ENSMUSG00000074121

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	50	74	N/A	INTRINSIC
NGF	88	201	8.06e-83	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000072453

SMART Domains

Protein: ENSMUSP00000072276
Gene: ENSMUSG00000100916

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
GHB	25	131	2.2e-64	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107771
AA Change: L432I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103400
Gene: ENSMUSG00000003868
AA Change: L432I

Domain	Start	End	E-Value	Type
AAA	69	361	5.17e-10	SMART
Blast:AAA	373	417	3e-17	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000209426

Predicted Effect

probably benign
Transcript: ENSMUST00000210271

Predicted Effect

probably benign
Transcript: ENSMUST00000210439

Predicted Effect

probably damaging
Transcript: ENSMUST00000211214
AA Change: L432I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211478

Predicted Effect

probably benign
Transcript: ENSMUST00000211440

Predicted Effect

probably benign
Transcript: ENSMUST00000211666

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit lethality. Mice heterozygous for a knock-out allele exhibit impaired T cell development and maximal T dependent antibody responses. [provided by MGI curators]

Allele List at MGI

All alleles(12) : Targeted, knock-out(1) Gene trapped(11)

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	T	C	1: 58,274,363 (GRCm39)	V383A	probably benign	Het
Aplp1	A	T	7: 30,135,396 (GRCm39)		probably null	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Gmnc	G	A	16: 26,779,165 (GRCm39)	H281Y	probably benign	Het
Gusb	T	C	5: 130,029,325 (GRCm39)	D152G	probably damaging	Het
Kcnk4	A	T	19: 6,905,162 (GRCm39)	V163E	probably damaging	Het
Lcmt1	T	G	7: 123,029,359 (GRCm39)	L327W	probably damaging	Het
Med18	G	A	4: 132,187,128 (GRCm39)	R124C	probably damaging	Het
Odf1	A	G	15: 38,226,675 (GRCm39)	T192A	unknown	Het
Pitpna	C	T	11: 75,483,016 (GRCm39)	R8W	probably damaging	Het
Pkn1	A	G	8: 84,396,799 (GRCm39)	Y951H	probably benign	Het
Rad18	T	C	6: 112,658,327 (GRCm39)	T193A	possibly damaging	Het
Slco1a4	T	C	6: 141,758,396 (GRCm39)		probably null	Het
Tlr11	T	A	14: 50,600,178 (GRCm39)	C721*	probably null	Het
Tubgcp6	A	T	15: 88,987,285 (GRCm39)	C1229*	probably null	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het

Other mutations in Ruvbl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Ruvbl2	APN	7	45,074,596 (GRCm39)	missense	probably benign	0.07
IGL00970:Ruvbl2	APN	7	45,078,994 (GRCm39)	missense	possibly damaging	0.59
IGL01084:Ruvbl2	APN	7	45,071,947 (GRCm39)	splice site	probably null
IGL01382:Ruvbl2	APN	7	45,072,161 (GRCm39)	missense	probably benign	0.00
IGL01798:Ruvbl2	APN	7	45,071,587 (GRCm39)	missense	probably damaging	1.00
IGL01936:Ruvbl2	APN	7	45,078,122 (GRCm39)	missense	probably damaging	1.00
IGL02282:Ruvbl2	APN	7	45,074,589 (GRCm39)	missense	probably benign
Worker	UTSW	7	45,080,742 (GRCm39)	critical splice donor site	probably benign
R0510:Ruvbl2	UTSW	7	45,080,730 (GRCm39)	splice site	probably benign
R0570:Ruvbl2	UTSW	7	45,071,621 (GRCm39)	missense	probably damaging	1.00
R1533:Ruvbl2	UTSW	7	45,073,566 (GRCm39)	missense	probably damaging	1.00
R1591:Ruvbl2	UTSW	7	45,074,135 (GRCm39)	missense	possibly damaging	0.57
R1679:Ruvbl2	UTSW	7	45,074,391 (GRCm39)	missense	probably damaging	1.00
R1758:Ruvbl2	UTSW	7	45,074,586 (GRCm39)	missense	probably benign	0.39
R2113:Ruvbl2	UTSW	7	45,073,527 (GRCm39)	splice site	probably null
R3806:Ruvbl2	UTSW	7	45,071,614 (GRCm39)	missense	possibly damaging	0.65
R4940:Ruvbl2	UTSW	7	45,074,150 (GRCm39)	missense	probably damaging	1.00
R6045:Ruvbl2	UTSW	7	45,074,433 (GRCm39)	missense	probably damaging	1.00
R6222:Ruvbl2	UTSW	7	45,074,149 (GRCm39)	missense	probably damaging	1.00
R6754:Ruvbl2	UTSW	7	45,078,182 (GRCm39)	missense	probably benign	0.07
R6947:Ruvbl2	UTSW	7	45,074,373 (GRCm39)	critical splice donor site	probably null
R7366:Ruvbl2	UTSW	7	45,071,573 (GRCm39)	missense	probably benign	0.38
R8179:Ruvbl2	UTSW	7	45,072,196 (GRCm39)	missense	probably damaging	0.99
R8410:Ruvbl2	UTSW	7	45,080,756 (GRCm39)	missense	probably benign	0.00
R8534:Ruvbl2	UTSW	7	45,079,118 (GRCm39)	splice site	probably null
R9205:Ruvbl2	UTSW	7	45,083,741 (GRCm39)	start gained	probably benign
R9410:Ruvbl2	UTSW	7	45,071,618 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGTGTCCATTGTTTCGCC -3'
(R):5'- AAGGTCAGCCAGCAGATTAG -3'

Sequencing Primer
(F):5'- TTCGCCTTCTGCAGAGAGAG -3'
(R):5'- TCAGCCAGCAGATTAGCCTGG -3'

Posted On

2015-01-11