Mutagenetix > Incidental Mutation

Incidental Mutation 'R0106:Ruvbl1'

17627

Institutional Source

Beutler Lab

Gene Symbol

Ruvbl1

Ensembl Gene

ENSMUSG00000030079

Gene Name

RuvB-like AAA ATPase 1

Synonyms

Pontin52, 2510009G06Rik, Tip49a

MMRRC Submission

038392-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R0106 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

88442391-88474548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88450182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 58 (R58G)

Ref Sequence

ENSEMBL: ENSMUSP00000117925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032165] [ENSMUST00000129035]

AlphaFold

P60122

Predicted Effect

probably damaging
Transcript: ENSMUST00000032165
AA Change: R118G

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

SMART Domains

Protein: ENSMUSP00000032165
Gene: ENSMUSG00000030079
AA Change: R118G

Domain	Start	End	E-Value	Type
AAA	62	365	1.51e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000129035
AA Change: R58G

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

SMART Domains

Protein: ENSMUSP00000117925
Gene: ENSMUSG00000030079
AA Change: R58G

Domain	Start	End	E-Value	Type
Pfam:AAA_19	1	77	1.3e-7	PFAM
Pfam:TIP49	1	134	2.7e-60	PFAM
Pfam:RuvB_N	2	52	5.5e-7	PFAM
Pfam:AAA	6	80	1.5e-10	PFAM

Meta Mutation Damage Score

0.5987

Coding Region Coverage

1x: 87.6%
3x: 83.1%
10x: 68.0%
20x: 43.0%

Validation Efficiency

97% (89/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcriptional complexes and with protein complexes involved in both ATP-dependent remodeling and histone modification. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null allele show impaired proliferation of the pluripotent inner mass cells and embryonic lethality before implantation. Conditional ablation of this gene in hematopoietic tissues leads to bone marrow failure involving apoptotic loss of hematopoietic stem cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	A	T	11: 43,478,200 (GRCm39)		probably benign	Het
A730018C14Rik	A	T	12: 112,381,628 (GRCm39)		noncoding transcript	Het
Abca5	A	T	11: 110,210,651 (GRCm39)	L176Q	probably damaging	Het
Aspm	C	A	1: 139,404,614 (GRCm39)	Q1315K	probably benign	Het
Bpifb4	A	G	2: 153,782,888 (GRCm39)	D31G	probably benign	Het
Brf1	A	G	12: 112,937,083 (GRCm39)		probably benign	Het
Card19	A	C	13: 49,361,621 (GRCm39)	D3E	probably benign	Het
Chd6	A	G	2: 160,809,822 (GRCm39)	F1480L	probably damaging	Het
Cldn25	A	G	9: 48,958,933 (GRCm39)		noncoding transcript	Het
Col11a2	A	G	17: 34,276,249 (GRCm39)	N799D	probably damaging	Het
Cpb1	T	C	3: 20,320,697 (GRCm39)		probably null	Het
Cyp2g1	T	A	7: 26,513,607 (GRCm39)	I182N	probably damaging	Het
Dntt	A	T	19: 41,044,185 (GRCm39)		probably benign	Het
Dscc1	C	A	15: 54,946,966 (GRCm39)	C253F	probably benign	Het
Dysf	C	A	6: 84,090,318 (GRCm39)	F956L	probably benign	Het
Ephb6	T	C	6: 41,596,528 (GRCm39)		probably benign	Het
Firrm	T	C	1: 163,810,380 (GRCm39)		probably benign	Het
Fkbp6	C	T	5: 135,368,858 (GRCm39)	R234Q	probably benign	Het
Gda	T	C	19: 21,374,920 (GRCm39)	D332G	probably benign	Het
Ggt7	C	T	2: 155,336,813 (GRCm39)	A560T	possibly damaging	Het
Glis3	A	T	19: 28,509,268 (GRCm39)	S239T	possibly damaging	Het
Glyctk	G	A	9: 106,033,168 (GRCm39)	P124L	probably benign	Het
Gm10845	T	A	14: 80,100,644 (GRCm39)		noncoding transcript	Het
H13	A	G	2: 152,528,176 (GRCm39)	K175R	probably benign	Het
Igsf6	T	A	7: 120,673,677 (GRCm39)	I18F	probably benign	Het
Immt	A	G	6: 71,828,828 (GRCm39)	S128G	probably benign	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Kif13a	G	T	13: 46,978,823 (GRCm39)		probably benign	Het
L2hgdh	A	T	12: 69,752,563 (GRCm39)	Y239*	probably null	Het
Lamp1	A	G	8: 13,224,550 (GRCm39)	T405A	probably damaging	Het
Lpin1	A	T	12: 16,590,980 (GRCm39)	N817K	possibly damaging	Het
Macf1	G	A	4: 123,302,357 (GRCm39)	T715I	probably benign	Het
Mapk12	T	C	15: 89,017,187 (GRCm39)		probably benign	Het
Mdga2	A	T	12: 66,763,480 (GRCm39)	N205K	probably damaging	Het
Nat10	A	G	2: 103,587,550 (GRCm39)	V55A	probably damaging	Het
Nlrp10	T	C	7: 108,524,529 (GRCm39)	E317G	possibly damaging	Het
Nolc1	T	A	19: 46,068,528 (GRCm39)		probably benign	Het
Nomo1	T	C	7: 45,687,056 (GRCm39)	I72T	probably damaging	Het
Or5b98	A	G	19: 12,931,720 (GRCm39)	I256V	probably benign	Het
Pappa2	C	T	1: 158,542,547 (GRCm39)	C1780Y	probably damaging	Het
Pgm2l1	A	G	7: 99,899,580 (GRCm39)	M65V	probably benign	Het
Pnisr	T	C	4: 21,874,617 (GRCm39)		probably benign	Het
Prss34	A	T	17: 25,517,700 (GRCm39)	D25V	probably damaging	Het
Ptpn1	T	C	2: 167,818,338 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pygb	A	G	2: 150,648,123 (GRCm39)	D119G	probably benign	Het
Racgap1	T	C	15: 99,540,839 (GRCm39)	T4A	possibly damaging	Het
Rap1gap2	A	G	11: 74,326,570 (GRCm39)	C166R	probably benign	Het
Rbm28	C	A	6: 29,127,802 (GRCm39)	V705L	probably benign	Het
Rgs1	C	T	1: 144,124,287 (GRCm39)	V50M	probably benign	Het
Rgs12	C	T	5: 35,124,008 (GRCm39)	T597I	probably benign	Het
Ros1	T	C	10: 52,018,363 (GRCm39)	N765S	possibly damaging	Het
Slc6a7	A	G	18: 61,135,295 (GRCm39)	V411A	probably benign	Het
Slco1a6	A	T	6: 142,103,116 (GRCm39)		probably benign	Het
Smc1b	A	T	15: 84,955,020 (GRCm39)	D1077E	probably damaging	Het
Srek1	G	A	13: 103,880,131 (GRCm39)	H476Y	unknown	Het
Strn3	A	G	12: 51,668,571 (GRCm39)	V673A	probably benign	Het
Tepsin	T	C	11: 119,982,637 (GRCm39)		probably null	Het
Tmem131l	C	T	3: 83,842,122 (GRCm39)		probably benign	Het
Tmem132c	T	C	5: 127,631,733 (GRCm39)	V664A	possibly damaging	Het
Tmprss15	T	C	16: 78,800,277 (GRCm39)	D602G	probably damaging	Het
Trbv15	T	C	6: 41,118,199 (GRCm39)		probably benign	Het
Trpm4	A	G	7: 44,968,664 (GRCm39)		probably null	Het
Wdr70	A	T	15: 8,049,068 (GRCm39)		probably null	Het

Other mutations in Ruvbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Ruvbl1	APN	6	88,461,385 (GRCm39)	unclassified	probably benign
IGL00473:Ruvbl1	APN	6	88,468,550 (GRCm39)	missense	probably damaging	1.00
IGL01768:Ruvbl1	APN	6	88,474,253 (GRCm39)	missense	probably benign
IGL03354:Ruvbl1	APN	6	88,456,197 (GRCm39)	nonsense	probably null
R0106:Ruvbl1	UTSW	6	88,450,182 (GRCm39)	missense	probably damaging	1.00
R0145:Ruvbl1	UTSW	6	88,461,441 (GRCm39)	missense	possibly damaging	0.90
R0676:Ruvbl1	UTSW	6	88,450,182 (GRCm39)	missense	probably damaging	1.00
R1448:Ruvbl1	UTSW	6	88,444,551 (GRCm39)	missense	probably benign	0.05
R1561:Ruvbl1	UTSW	6	88,456,136 (GRCm39)	missense	probably damaging	1.00
R1574:Ruvbl1	UTSW	6	88,456,136 (GRCm39)	missense	probably damaging	1.00
R1623:Ruvbl1	UTSW	6	88,462,752 (GRCm39)	missense	probably damaging	1.00
R2113:Ruvbl1	UTSW	6	88,460,003 (GRCm39)	missense	probably damaging	0.99
R2372:Ruvbl1	UTSW	6	88,462,779 (GRCm39)	missense	possibly damaging	0.53
R2397:Ruvbl1	UTSW	6	88,442,534 (GRCm39)	missense	possibly damaging	0.71
R2894:Ruvbl1	UTSW	6	88,456,114 (GRCm39)	missense	possibly damaging	0.87
R4037:Ruvbl1	UTSW	6	88,450,117 (GRCm39)	missense	probably damaging	1.00
R4604:Ruvbl1	UTSW	6	88,462,887 (GRCm39)	missense	probably benign
R4684:Ruvbl1	UTSW	6	88,468,581 (GRCm39)	missense	probably benign	0.00
R4714:Ruvbl1	UTSW	6	88,461,412 (GRCm39)	missense	possibly damaging	0.61
R4835:Ruvbl1	UTSW	6	88,474,211 (GRCm39)	missense	possibly damaging	0.69
R4939:Ruvbl1	UTSW	6	88,460,021 (GRCm39)	splice site	probably null
R5114:Ruvbl1	UTSW	6	88,474,272 (GRCm39)	missense	probably benign	0.41
R5126:Ruvbl1	UTSW	6	88,462,883 (GRCm39)	missense	probably benign	0.13
R5296:Ruvbl1	UTSW	6	88,462,890 (GRCm39)	missense	probably damaging	0.99
R5507:Ruvbl1	UTSW	6	88,444,582 (GRCm39)	missense	probably benign	0.00
R5559:Ruvbl1	UTSW	6	88,450,078 (GRCm39)	missense	possibly damaging	0.90
R5819:Ruvbl1	UTSW	6	88,460,097 (GRCm39)	splice site	probably null
R6048:Ruvbl1	UTSW	6	88,459,973 (GRCm39)	missense	possibly damaging	0.90
R6155:Ruvbl1	UTSW	6	88,456,107 (GRCm39)	critical splice acceptor site	probably null
R6564:Ruvbl1	UTSW	6	88,456,208 (GRCm39)	missense	possibly damaging	0.93
R6704:Ruvbl1	UTSW	6	88,456,187 (GRCm39)	missense	probably benign	0.06
R7681:Ruvbl1	UTSW	6	88,444,635 (GRCm39)	critical splice donor site	probably null
R8071:Ruvbl1	UTSW	6	88,450,108 (GRCm39)	missense	probably damaging	1.00
R9087:Ruvbl1	UTSW	6	88,474,355 (GRCm39)	missense	probably benign
R9274:Ruvbl1	UTSW	6	88,474,334 (GRCm39)	missense	probably benign
R9670:Ruvbl1	UTSW	6	88,444,558 (GRCm39)	missense	probably benign	0.01

Posted On

2013-01-31