Mutagenetix > Incidental Mutation

Incidental Mutation 'R0570:Ruvbl2'

46376

Institutional Source

Beutler Lab

Gene Symbol

Ruvbl2

Ensembl Gene

ENSMUSG00000003868

Gene Name

RuvB-like AAA ATPase 2

Synonyms

p47, mp47

MMRRC Submission

038761-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45071320-45084817 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45071621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 421 (V421M)

Ref Sequence

ENSEMBL: ENSMUSP00000147502 (fasta)

Gene Model

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

AlphaFold

Q9WTM5

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: V421M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103400
Gene: ENSMUSG00000003868
AA Change: V421M

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: V421M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000211440

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211478

Predicted Effect

probably benign
Transcript: ENSMUST00000211666

Meta Mutation Damage Score

0.6892

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (85/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	C	A	8: 84,729,733 (GRCm39)		probably benign	Het
Aadacl3	C	T	4: 144,190,130 (GRCm39)	W57*	probably null	Het
Abca2	G	T	2: 25,337,417 (GRCm39)		probably null	Het
Abca3	A	G	17: 24,593,373 (GRCm39)	I257V	probably benign	Het
Adamts2	A	G	11: 50,666,963 (GRCm39)	D420G	probably damaging	Het
Adamts5	A	G	16: 85,696,135 (GRCm39)	F341L	probably damaging	Het
Ahnak	T	A	19: 8,991,062 (GRCm39)	D4115E	probably damaging	Het
Arhgap20	T	C	9: 51,751,751 (GRCm39)	S365P	possibly damaging	Het
Atrn	G	A	2: 130,822,054 (GRCm39)	V916I	probably benign	Het
Blmh	T	C	11: 76,856,651 (GRCm39)	V82A	probably damaging	Het
C1ra	A	T	6: 124,490,664 (GRCm39)	Y19F	probably benign	Het
Cactin	A	G	10: 81,159,067 (GRCm39)	E306G	probably damaging	Het
Celsr1	C	T	15: 85,787,566 (GRCm39)	R2724Q	probably benign	Het
Clca4b	T	C	3: 144,631,110 (GRCm39)	E250G	probably benign	Het
Col17a1	A	T	19: 47,654,317 (GRCm39)	S647T	possibly damaging	Het
Cope	T	A	8: 70,759,181 (GRCm39)	D74E	probably damaging	Het
Dsg1c	T	C	18: 20,403,435 (GRCm39)	I198T	probably damaging	Het
Elfn2	T	C	15: 78,557,434 (GRCm39)	N371S	probably damaging	Het
Elmo2	G	T	2: 165,146,839 (GRCm39)	A246D	probably benign	Het
Ewsr1	A	T	11: 5,035,935 (GRCm39)	M187K	possibly damaging	Het
Faap100	A	T	11: 120,265,114 (GRCm39)	S587R	possibly damaging	Het
Fam234b	C	T	6: 135,186,247 (GRCm39)	S85L	probably benign	Het
Fanca	A	T	8: 124,033,169 (GRCm39)	S292R	probably benign	Het
Fanci	G	A	7: 79,093,711 (GRCm39)	C1021Y	probably damaging	Het
Fhod3	T	C	18: 25,245,640 (GRCm39)	I1230T	probably benign	Het
Fmo5	T	C	3: 97,536,456 (GRCm39)	L27S	probably damaging	Het
Fmo9	A	G	1: 166,502,031 (GRCm39)	V147A	probably null	Het
Fnbp4	A	G	2: 90,583,301 (GRCm39)	Y309C	probably damaging	Het
Foxb1	T	C	9: 69,666,844 (GRCm39)	T229A	probably benign	Het
Gapvd1	A	G	2: 34,618,552 (GRCm39)	Y274H	probably damaging	Het
Gbp8	T	C	5: 105,165,541 (GRCm39)		probably null	Het
Gcn1	T	A	5: 115,730,480 (GRCm39)	L888Q	probably damaging	Het
Gm17490	T	C	2: 11,630,460 (GRCm39)		probably benign	Het
Gtf2ird2	T	A	5: 134,237,785 (GRCm39)		probably null	Het
H2-Q1	A	G	17: 35,540,373 (GRCm39)	T153A	possibly damaging	Het
Ina	A	C	19: 47,011,938 (GRCm39)	E452A	probably benign	Het
Kars1	A	G	8: 112,721,494 (GRCm39)		probably null	Het
Kif1c	A	G	11: 70,595,291 (GRCm39)	E124G	probably damaging	Het
Lpin3	T	C	2: 160,745,944 (GRCm39)		probably benign	Het
Lrp1	A	T	10: 127,390,878 (GRCm39)	C3006*	probably null	Het
Lyst	T	C	13: 13,883,971 (GRCm39)	L2953P	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Melk	T	C	4: 44,308,906 (GRCm39)	Y88H	probably damaging	Het
Myrf	A	G	19: 10,189,161 (GRCm39)	S857P	probably damaging	Het
Nos2	A	G	11: 78,826,187 (GRCm39)	I153M	possibly damaging	Het
Or4n4	T	G	14: 50,519,370 (GRCm39)	L113F	probably benign	Het
Otof	A	G	5: 30,529,225 (GRCm39)		probably benign	Het
Patl2	A	G	2: 121,955,789 (GRCm39)	V249A	probably damaging	Het
Pcgf5	A	G	19: 36,389,580 (GRCm39)	Y19C	probably benign	Het
Pcnt	A	T	10: 76,247,941 (GRCm39)	V951E	probably damaging	Het
Pcolce2	T	C	9: 95,520,710 (GRCm39)	V29A	probably benign	Het
Pdgfrb	A	T	18: 61,210,775 (GRCm39)	M761L	probably benign	Het
Pi16	A	T	17: 29,538,189 (GRCm39)	M1L	possibly damaging	Het
Pkd2	T	A	5: 104,603,471 (GRCm39)		probably benign	Het
Plcb2	A	G	2: 118,547,806 (GRCm39)	W474R	probably benign	Het
Psapl1	A	G	5: 36,361,624 (GRCm39)	D72G	possibly damaging	Het
Ptpn5	T	A	7: 46,728,681 (GRCm39)		probably benign	Het
Ptprg	A	G	14: 12,215,896 (GRCm38)	E1115G	probably damaging	Het
Rassf1	C	T	9: 107,435,165 (GRCm39)	T224I	probably damaging	Het
Rbpms2	T	A	9: 65,566,476 (GRCm39)	C168*	probably null	Het
Rhag	A	G	17: 41,139,804 (GRCm39)		probably benign	Het
Rhebl1	C	T	15: 98,779,034 (GRCm39)	V17I	probably benign	Het
Rnf130	A	T	11: 49,986,703 (GRCm39)	D349V	possibly damaging	Het
Rprd1a	A	G	18: 24,642,952 (GRCm39)	L60P	probably damaging	Het
Rspry1	T	C	8: 95,356,420 (GRCm39)	I25T	probably damaging	Het
Sap30	T	C	8: 57,936,000 (GRCm39)	N209D	possibly damaging	Het
Sfswap	T	C	5: 129,581,042 (GRCm39)		probably benign	Het
Slc1a2	G	A	2: 102,586,352 (GRCm39)	V319M	probably damaging	Het
Smad2	T	C	18: 76,422,250 (GRCm39)		probably benign	Het
Spdya	T	C	17: 71,869,585 (GRCm39)		probably null	Het
Stk39	G	A	2: 68,240,392 (GRCm39)	T113M	probably damaging	Het
Tanc1	A	G	2: 59,626,382 (GRCm39)		probably benign	Het
Tas2r122	T	C	6: 132,688,774 (GRCm39)	K40E	probably damaging	Het
Tph2	G	T	10: 115,010,039 (GRCm39)		probably benign	Het
Trip12	G	A	1: 84,729,269 (GRCm39)	S1083F	probably damaging	Het
Tsc2	A	T	17: 24,845,701 (GRCm39)	C206S	probably damaging	Het
Tsc22d4	A	G	5: 137,760,681 (GRCm39)	Q34R	possibly damaging	Het
Uroc1	G	T	6: 90,315,546 (GRCm39)	M142I	possibly damaging	Het
Uso1	T	C	5: 92,347,682 (GRCm39)	S766P	probably benign	Het
Usp21	G	A	1: 171,111,319 (GRCm39)		probably benign	Het
Usp48	T	A	4: 137,360,437 (GRCm39)	I658K	possibly damaging	Het
Vmn1r206	T	C	13: 22,804,583 (GRCm39)	H208R	probably damaging	Het
Vmn2r109	C	T	17: 20,760,937 (GRCm39)	A807T	probably damaging	Het
Zfp329	A	T	7: 12,544,379 (GRCm39)	C382S	probably damaging	Het
Zfp341	A	G	2: 154,487,988 (GRCm39)	E817G	probably benign	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
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
R3017:Ruvbl2	UTSW	7	45,071,588 (GRCm39)	missense	probably damaging	0.99
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'- GGACACAGCAGAGGTCCAGTTTTC -3'
(R):5'- GCTATGCCATCCAGCTCATCACAG -3'

Sequencing Primer
(F):5'- CAGCTCAGGAGGTGTCCATTG -3'
(R):5'- TCAGCCAGCAGATTAGCCTG -3'

Posted On

2013-06-11