Mutagenetix > Incidental Mutation

Incidental Mutation 'R8179:Ruvbl2'

634547

Institutional Source

Beutler Lab

Gene Symbol

Ruvbl2

Ensembl Gene

ENSMUSG00000003868

Gene Name

RuvB-like AAA ATPase 2

Synonyms

p47, mp47

MMRRC Submission

067604-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8179 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45071320-45084817 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45072196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 346 (I346T)

Ref Sequence

ENSEMBL: ENSMUSP00000103400 (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: I346T

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

SMART Domains

Protein: ENSMUSP00000103400
Gene: ENSMUSG00000003868
AA Change: I346T

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: ENSMUST00000210271

Predicted Effect

probably benign
Transcript: ENSMUST00000210439

Predicted Effect

probably damaging
Transcript: ENSMUST00000211214
AA Change: I346T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211440

Predicted Effect

probably benign
Transcript: ENSMUST00000211666

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,136,100 (GRCm39)	Y170H	probably damaging	Het
Ace3	G	T	11: 105,895,383 (GRCm39)	V602L	probably benign	Het
Ahr	T	C	12: 35,560,050 (GRCm39)	Q201R	probably benign	Het
Aldh18a1	A	C	19: 40,545,952 (GRCm39)	C612G	probably damaging	Het
Ankrd40	G	A	11: 94,225,541 (GRCm39)	A191T	probably benign	Het
Aox1	A	G	1: 58,137,117 (GRCm39)	D1169G	probably damaging	Het
Arfgap2	T	C	2: 91,105,668 (GRCm39)	F505L	probably damaging	Het
Arhgap40	T	C	2: 158,381,776 (GRCm39)	F423L	probably damaging	Het
Atf6b	T	C	17: 34,872,968 (GRCm39)	M628T	probably damaging	Het
Casp8ap2	T	A	4: 32,643,939 (GRCm39)	L1004*	probably null	Het
Cc2d2a	T	A	5: 43,857,295 (GRCm39)	L494Q	probably damaging	Het
Cd180	T	C	13: 102,842,141 (GRCm39)	S396P	probably benign	Het
Cdk19	T	C	10: 40,270,368 (GRCm39)	I59T	possibly damaging	Het
Cfap54	G	T	10: 92,833,178 (GRCm39)	F1149L	possibly damaging	Het
Chp1	C	T	2: 119,378,253 (GRCm39)		probably benign	Het
Clmp	T	C	9: 40,692,475 (GRCm39)	F248S	probably benign	Het
Ctc1	T	A	11: 68,915,050 (GRCm39)	I237K	probably benign	Het
Dcaf1	G	T	9: 106,735,115 (GRCm39)	V688L	probably damaging	Het
Ddx54	T	A	5: 120,765,167 (GRCm39)	M812K	probably benign	Het
Disc1	C	T	8: 125,814,316 (GRCm39)	P60L	probably benign	Het
Disp2	C	G	2: 118,623,030 (GRCm39)	P1254R	probably damaging	Het
Dnah11	T	A	12: 117,842,284 (GRCm39)	I4432F	possibly damaging	Het
Dnajc15	A	T	14: 78,090,393 (GRCm39)	I58N		Het
Elovl5	A	G	9: 77,884,181 (GRCm39)	N159S	probably damaging	Het
Fgfr3	T	C	5: 33,885,099 (GRCm39)	V71A	probably benign	Het
Frs2	A	T	10: 116,912,791 (GRCm39)	H167Q	probably damaging	Het
Gm4553	A	T	7: 141,718,594 (GRCm39)	V278E	unknown	Het
Grin2d	A	T	7: 45,507,452 (GRCm39)	Y416*	probably null	Het
Hmcn1	A	T	1: 150,598,265 (GRCm39)	V1679E	probably benign	Het
Igkv18-36	T	C	6: 69,969,479 (GRCm39)	Y105C	probably damaging	Het
Lingo1	T	C	9: 56,527,134 (GRCm39)	D491G	probably damaging	Het
Map3k1	A	C	13: 111,885,581 (GRCm39)	I1445M	probably damaging	Het
Med30	A	T	15: 52,575,964 (GRCm39)	Q20L	probably damaging	Het
Mgat5b	A	G	11: 116,822,554 (GRCm39)	E96G	probably benign	Het
Mmp16	T	A	4: 17,853,854 (GRCm39)		probably null	Het
Mogat1	A	G	1: 78,504,255 (GRCm39)	D176G	possibly damaging	Het
Mre11a	T	A	9: 14,708,362 (GRCm39)	D142E	probably null	Het
Mybpc2	C	A	7: 44,159,254 (GRCm39)	V599L	probably benign	Het
Myot	A	T	18: 44,487,197 (GRCm39)	R345*	probably null	Het
Or10d5	G	A	9: 39,861,708 (GRCm39)	R120C	probably benign	Het
Or10z1	T	G	1: 174,078,130 (GRCm39)	D121A	possibly damaging	Het
Or8g53	C	T	9: 39,683,200 (GRCm39)	V299I	probably benign	Het
Pglyrp2	T	C	17: 32,635,003 (GRCm39)	Y453C	possibly damaging	Het
Phrf1	A	G	7: 140,836,493 (GRCm39)	Y255C	unknown	Het
Plppr4	A	G	3: 117,125,327 (GRCm39)	S171P	probably damaging	Het
Ppip5k1	A	T	2: 121,172,095 (GRCm39)		probably null	Het
Pramel57	T	C	5: 95,667,753 (GRCm39)	V111A	probably benign	Het
Rapgef3	A	T	15: 97,658,621 (GRCm39)	H170Q	probably benign	Het
Rnf10	ACCTCATCTCGTC	AC	5: 115,398,176 (GRCm39)		probably null	Het
Rpe65	A	G	3: 159,330,336 (GRCm39)	Y501C	probably benign	Het
Sema3g	A	G	14: 30,942,542 (GRCm39)	I48V	probably benign	Het
Slc4a10	A	C	2: 62,073,792 (GRCm39)	S285R	possibly damaging	Het
Slc6a11	G	A	6: 114,222,567 (GRCm39)	G521S	probably benign	Het
Slit3	A	G	11: 35,554,903 (GRCm39)	N912D	probably benign	Het
Traf3ip1	T	C	1: 91,428,523 (GRCm39)	V128A	unknown	Het
Trpc7	T	A	13: 57,035,693 (GRCm39)	N80I	probably damaging	Het
Ttc21b	G	A	2: 66,031,824 (GRCm39)	H1031Y	probably benign	Het
Tubg2	A	T	11: 101,051,082 (GRCm39)	I235F	probably benign	Het
Ube2q2l	A	G	6: 136,378,240 (GRCm39)	S197P	probably damaging	Het
Vmn2r118	A	T	17: 55,915,484 (GRCm39)	Y489N	probably benign	Het
Vmn2r54	G	T	7: 12,366,018 (GRCm39)	C305*	probably null	Het
Vmn2r86	G	A	10: 130,288,953 (GRCm39)	H183Y	probably benign	Het
Xrcc5	T	C	1: 72,396,016 (GRCm39)	V603A	probably damaging	Het
Zfp110	T	A	7: 12,578,498 (GRCm39)	Y136*	probably null	Het
Zfp112	C	T	7: 23,825,063 (GRCm39)	P348S	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
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
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
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'- ACAACCACAGATGATGAGGC -3'
(R):5'- AAGAACTGTCTGGGTTTGCCAG -3'

Sequencing Primer
(F):5'- CAACCACAGATGATGAGGCTAAAAG -3'
(R):5'- GGGACAGGATAGCCACTAGC -3'

Posted On

2020-07-13