Mutagenetix > Incidental Mutation

Incidental Mutation 'R9205:Ruvbl2'

698442

Institutional Source

Beutler Lab

Gene Symbol

Ruvbl2

Ensembl Gene

ENSMUSG00000003868

Gene Name

RuvB-like protein 2

Synonyms

p47, mp47

MMRRC Submission

Accession Numbers

Genbank: NM_011304

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45421760-45438096 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 45434317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003964] [ENSMUST00000107771] [ENSMUST00000210439] [ENSMUST00000211150] [ENSMUST00000211214] [ENSMUST00000211666]

AlphaFold

Q9WTM5

Predicted Effect

probably benign
Transcript: ENSMUST00000003964

SMART Domains

Protein: ENSMUSP00000003964
Gene: ENSMUSG00000003865

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC
Pfam:Glyco_transf_5	28	274	5.2e-8	PFAM
Pfam:Glycogen_syn	31	663	N/A	PFAM
low complexity region	670	686	N/A	INTRINSIC
low complexity region	698	711	N/A	INTRINSIC
low complexity region	716	733	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107771

SMART Domains

Protein: ENSMUSP00000103400
Gene: ENSMUSG00000003868

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: ENSMUST00000210439

Predicted Effect

probably benign
Transcript: ENSMUST00000211150

Predicted Effect

probably benign
Transcript: ENSMUST00000211214

Predicted Effect

probably benign
Transcript: ENSMUST00000211440

Predicted Effect

probably benign
Transcript: ENSMUST00000211666

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.3%

Validation Efficiency

95% (76/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	T	A	6: 140,642,228	H341Q	probably damaging	Het
Apob	G	A	12: 7,980,635	A125T	probably damaging	Het
Bace2	G	T	16: 97,356,859	A20S	unknown	Het
Bcar1	T	C	8: 111,715,709	Y238C	probably damaging	Het
Brinp3	A	T	1: 146,902,089	D758V	possibly damaging	Het
Btnl10	T	C	11: 58,920,519	S223P	probably damaging	Het
Cckar	C	T	5: 53,707,245		probably null	Het
Cdhr2	A	G	13: 54,713,988	N66S	probably benign	Het
Chd9	A	G	8: 91,030,642	M1890V	probably benign	Het
Col6a5	C	T	9: 105,878,638	G2196R	probably damaging	Het
Col9a1	T	G	1: 24,185,094	M119R	unknown	Het
Cryaa	A	G	17: 31,679,668	H123R	probably damaging	Het
Cux1	A	T	5: 136,370,135	D171E	probably damaging	Het
Dgkz	T	A	2: 91,933,799	T1067S	probably benign	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Dnah5	T	C	15: 28,448,334	M4181T	possibly damaging	Het
Dnajb14	A	G	3: 137,908,384	E352G	possibly damaging	Het
Dnmt3l	T	A	10: 78,056,752		probably null	Het
Dph6	T	C	2: 114,569,514	I117V	probably damaging	Het
Dsg1a	A	G	18: 20,340,171	D767G	probably damaging	Het
Edn3	C	T	2: 174,761,689	P77S	possibly damaging	Het
Elmsan1	A	C	12: 84,152,887	F1020V	probably benign	Het
Fbln7	A	C	2: 128,895,248	S328R	probably null	Het
Fbn2	T	C	18: 58,059,356	R1518G	probably damaging	Het
Foxi2	A	T	7: 135,411,796	T252S	probably benign	Het
Foxred2	A	G	15: 77,952,006	S384P	probably damaging	Het
Gdpd1	G	A	11: 87,045,183	H174Y	probably benign	Het
Gm10542	A	C	18: 44,204,638	D61A	possibly damaging	Het
Gm10563	TTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	4: 155,635,850		probably benign	Het
H2-Ab1	A	G	17: 34,265,007	E114G	probably damaging	Het
Htt	C	T	5: 34,819,023	T723M	probably benign	Het
Igfn1	C	T	1: 135,975,957	V348I	probably damaging	Het
Itpr1	T	A	6: 108,489,849	L2173Q	probably damaging	Het
Lamp5	A	G	2: 136,059,601	Y115C	probably damaging	Het
Lrp1	T	A	10: 127,594,981	K400*	probably null	Het
Man2a2	C	T	7: 80,361,120	V708I	probably benign	Het
Matr3	T	C	18: 35,587,721	S746P	probably benign	Het
Me1	C	T	9: 86,598,794	V353M	probably benign	Het
Nbeal1	T	A	1: 60,278,680	D1925E	probably damaging	Het
Oca2	T	A	7: 56,316,420	F387I	probably damaging	Het
Olfr1163	T	A	2: 88,070,434	H316L	probably benign	Het
Olfr181	T	G	16: 58,926,122	I150L	probably benign	Het
Olfr181	G	T	16: 58,926,123	F149L	probably benign	Het
Olfr212	T	A	6: 116,516,354	N192K	probably benign	Het
Olfr420	T	C	1: 174,158,890	I39T	probably benign	Het
Olfr912	T	A	9: 38,582,077	S267T	probably benign	Het
Opn3	G	T	1: 175,663,089	N335K	probably benign	Het
Osm	A	G	11: 4,238,504	N44D	possibly damaging	Het
Otop2	T	C	11: 115,329,086	Y251H	probably damaging	Het
Pappa	T	C	4: 65,156,375	S389P	possibly damaging	Het
Polr1d	C	T	5: 147,101,258	A19V	probably damaging	Het
Ptchd4	G	A	17: 42,503,385	V726M	probably benign	Het
Pzp	T	A	6: 128,496,663	D731V	probably benign	Het
Rgl2	A	T	17: 33,936,028	I669F	probably damaging	Het
Rpl38	T	C	11: 114,672,288	*71R	probably null	Het
Rufy1	G	A	11: 50,398,474	R514W	probably damaging	Het
Scn9a	T	G	2: 66,533,313	I874L	probably damaging	Het
Slc14a2	A	G	18: 78,195,736	S85P	probably benign	Het
Slc17a1	A	G	13: 23,878,811	I287V	probably benign	Het
Slc35f3	T	A	8: 126,389,189	I285N	probably damaging	Het
Slx4	A	G	16: 3,988,063	S542P	possibly damaging	Het
Sox30	A	T	11: 46,017,353	L782F	probably damaging	Het
Sspo	A	G	6: 48,455,872	N894S	probably benign	Het
Syne1	G	A	10: 5,202,013	Q5765*	probably null	Het
Taar7e	T	C	10: 24,038,074	I154T	probably benign	Het
Tars	A	G	15: 11,397,179		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tmem198b	A	T	10: 128,803,188	C29S	probably damaging	Het
Tnr	A	C	1: 159,895,047	M1021L	probably benign	Het
Tom1l1	G	A	11: 90,657,818	P309L	probably damaging	Het
Traf4	A	G	11: 78,161,101	S186P	probably benign	Het
Trpm1	T	G	7: 64,240,571	V974G	possibly damaging	Het
Tsga10	T	A	1: 37,841,278		probably benign	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Vmn2r93	A	T	17: 18,304,019	I92F	probably damaging	Het
Zfp457	A	T	13: 67,293,901	D203E	probably benign	Het
Zfp518b	G	A	5: 38,674,158	S168F	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp777	G	A	6: 48,025,587	T523M	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
R0570:Ruvbl2	UTSW	7	45422197	missense	probably damaging	1.00
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
R8534:Ruvbl2	UTSW	7	45429694	splice site	probably null
R9410:Ruvbl2	UTSW	7	45422194	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CGTCAAACCAGGCATCTTCC -3'
(R):5'- TCGGACTTAGCAGTTGCAG -3'

Sequencing Primer
(F):5'- GTCAAACCAGGCATCTTCCTTATCAC -3'
(R):5'- CTTAGCAGTTGCAGGGCGG -3'

Posted On

2022-02-07