Mutagenetix > Incidental Mutations

Incidental Mutation 'R0570:Ruvbl2'

46376

Institutional Source

Beutler Lab

Gene Symbol

Ruvbl2

Ensembl Gene

ENSMUSG00000003868

Gene Name

RuvB-like protein 2

Synonyms

p47, mp47

MMRRC Submission

038761-MU

Accession Numbers

Genbank: NM_011304

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45421760-45438096 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45422197 bp

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]

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: 84,003,104		probably benign	Het
Aadacl3	C	T	4: 144,463,560	W57*	probably null	Het
Abca2	G	T	2: 25,447,405		probably null	Het
Abca3	A	G	17: 24,374,399	I257V	probably benign	Het
Adamts2	A	G	11: 50,776,136	D420G	probably damaging	Het
Adamts5	A	G	16: 85,899,247	F341L	probably damaging	Het
Ahnak	T	A	19: 9,013,698	D4115E	probably damaging	Het
Arhgap20	T	C	9: 51,840,451	S365P	possibly damaging	Het
Atrn	G	A	2: 130,980,134	V916I	probably benign	Het
Blmh	T	C	11: 76,965,825	V82A	probably damaging	Het
C1ra	A	T	6: 124,513,705	Y19F	probably benign	Het
Cactin	A	G	10: 81,323,233	E306G	probably damaging	Het
Celsr1	C	T	15: 85,903,365	R2724Q	probably benign	Het
Clca4b	T	C	3: 144,925,349	E250G	probably benign	Het
Col17a1	A	T	19: 47,665,878	S647T	possibly damaging	Het
Cope	T	A	8: 70,306,531	D74E	probably damaging	Het
Dsg1c	T	C	18: 20,270,378	I198T	probably damaging	Het
Elfn2	T	C	15: 78,673,234	N371S	probably damaging	Het
Elmo2	G	T	2: 165,304,919	A246D	probably benign	Het
Ewsr1	A	T	11: 5,085,935	M187K	possibly damaging	Het
Faap100	A	T	11: 120,374,288	S587R	possibly damaging	Het
Fam234b	C	T	6: 135,209,249	S85L	probably benign	Het
Fanca	A	T	8: 123,306,430	S292R	probably benign	Het
Fanci	G	A	7: 79,443,963	C1021Y	probably damaging	Het
Fhod3	T	C	18: 25,112,583	I1230T	probably benign	Het
Fmo5	T	C	3: 97,629,140	L27S	probably damaging	Het
Fmo9	A	G	1: 166,674,462	V147A	probably null	Het
Fnbp4	A	G	2: 90,752,957	Y309C	probably damaging	Het
Foxb1	T	C	9: 69,759,562	T229A	probably benign	Het
Gapvd1	A	G	2: 34,728,540	Y274H	probably damaging	Het
Gbp8	T	C	5: 105,017,675		probably null	Het
Gcn1l1	T	A	5: 115,592,421	L888Q	probably damaging	Het
Gm17490	T	C	2: 11,625,649		probably benign	Het
Gtf2ird2	T	A	5: 134,208,944		probably null	Het
H2-Q1	A	G	17: 35,321,397	T153A	possibly damaging	Het
Ina	A	C	19: 47,023,499	E452A	probably benign	Het
Kars	A	G	8: 111,994,862		probably null	Het
Kif1c	A	G	11: 70,704,465	E124G	probably damaging	Het
Lpin3	T	C	2: 160,904,024		probably benign	Het
Lrp1	A	T	10: 127,555,009	C3006*	probably null	Het
Lyst	T	C	13: 13,709,386	L2953P	probably benign	Het
Mb21d2	G	A	16: 28,929,572	A31V	probably benign	Het
Melk	T	C	4: 44,308,906	Y88H	probably damaging	Het
Myrf	A	G	19: 10,211,797	S857P	probably damaging	Het
Nos2	A	G	11: 78,935,361	I153M	possibly damaging	Het
Olfr732	T	G	14: 50,281,913	L113F	probably benign	Het
Otof	A	G	5: 30,371,881		probably benign	Het
Patl2	A	G	2: 122,125,308	V249A	probably damaging	Het
Pcgf5	A	G	19: 36,412,180	Y19C	probably benign	Het
Pcnt	A	T	10: 76,412,107	V951E	probably damaging	Het
Pcolce2	T	C	9: 95,638,657	V29A	probably benign	Het
Pdgfrb	A	T	18: 61,077,703	M761L	probably benign	Het
Pi16	A	T	17: 29,319,215	M1L	possibly damaging	Het
Pkd2	T	A	5: 104,455,605		probably benign	Het
Plcb2	A	G	2: 118,717,325	W474R	probably benign	Het
Psapl1	A	G	5: 36,204,280	D72G	possibly damaging	Het
Ptpn5	T	A	7: 47,078,933		probably benign	Het
Ptprg	A	G	14: 12,215,896	E1115G	probably damaging	Het
Rassf1	C	T	9: 107,557,966	T224I	probably damaging	Het
Rbpms2	T	A	9: 65,659,194	C168*	probably null	Het
Rhag	A	G	17: 40,828,913		probably benign	Het
Rhebl1	C	T	15: 98,881,153	V17I	probably benign	Het
Rnf130	A	T	11: 50,095,876	D349V	possibly damaging	Het
Rprd1a	A	G	18: 24,509,895	L60P	probably damaging	Het
Rspry1	T	C	8: 94,629,792	I25T	probably damaging	Het
Sap30	T	C	8: 57,482,966	N209D	possibly damaging	Het
Sfswap	T	C	5: 129,503,978		probably benign	Het
Slc1a2	G	A	2: 102,756,007	V319M	probably damaging	Het
Smad2	T	C	18: 76,289,179		probably benign	Het
Spdya	T	C	17: 71,562,590		probably null	Het
Stk39	G	A	2: 68,410,048	T113M	probably damaging	Het
Tanc1	A	G	2: 59,796,038		probably benign	Het
Tas2r122	T	C	6: 132,711,811	K40E	probably damaging	Het
Tph2	G	T	10: 115,174,134		probably benign	Het
Trip12	G	A	1: 84,751,548	S1083F	probably damaging	Het
Tsc2	A	T	17: 24,626,727	C206S	probably damaging	Het
Tsc22d4	A	G	5: 137,762,419	Q34R	possibly damaging	Het
Uroc1	G	T	6: 90,338,564	M142I	possibly damaging	Het
Uso1	T	C	5: 92,199,823	S766P	probably benign	Het
Usp21	G	A	1: 171,283,746		probably benign	Het
Usp48	T	A	4: 137,633,126	I658K	possibly damaging	Het
Vmn1r206	T	C	13: 22,620,413	H208R	probably damaging	Het
Vmn2r109	C	T	17: 20,540,675	A807T	probably damaging	Het
Zfp329	A	T	7: 12,810,452	C382S	probably damaging	Het
Zfp341	A	G	2: 154,646,068	E817G	probably benign	Het

Other mutations in Ruvbl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Ruvbl2	APN	7	45425172	missense	probably benign	0.07
IGL00970:Ruvbl2	APN	7	45429570	missense	possibly damaging	0.59
IGL01084:Ruvbl2	APN	7	45422523	splice site	probably null
IGL01382:Ruvbl2	APN	7	45422737	missense	probably benign	0.00
IGL01798:Ruvbl2	APN	7	45422163	missense	probably damaging	1.00
IGL01936:Ruvbl2	APN	7	45428698	missense	probably damaging	1.00
IGL02282:Ruvbl2	APN	7	45425165	missense	probably benign
Worker	UTSW	7	45431318	critical splice donor site	probably benign
R0510:Ruvbl2	UTSW	7	45431306	splice site	probably benign
R1533:Ruvbl2	UTSW	7	45424142	missense	probably damaging	1.00
R1591:Ruvbl2	UTSW	7	45424711	missense	possibly damaging	0.57
R1679:Ruvbl2	UTSW	7	45424967	missense	probably damaging	1.00
R1758:Ruvbl2	UTSW	7	45425162	missense	probably benign	0.39
R2113:Ruvbl2	UTSW	7	45424103	splice site	probably null
R3017:Ruvbl2	UTSW	7	45422164	missense	probably damaging	0.99
R3806:Ruvbl2	UTSW	7	45422190	missense	possibly damaging	0.65
R4940:Ruvbl2	UTSW	7	45424726	missense	probably damaging	1.00
R6045:Ruvbl2	UTSW	7	45425009	missense	probably damaging	1.00
R6222:Ruvbl2	UTSW	7	45424725	missense	probably damaging	1.00
R6754:Ruvbl2	UTSW	7	45428758	missense	probably benign	0.07
R6947:Ruvbl2	UTSW	7	45424949	critical splice donor site	probably null
R7366:Ruvbl2	UTSW	7	45422149	missense	probably benign	0.38
R8179:Ruvbl2	UTSW	7	45422772	missense	probably damaging	0.99
R8410:Ruvbl2	UTSW	7	45431332	missense	probably benign	0.00

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