Mutagenetix > Incidental Mutation

Incidental Mutation 'R6155:Ruvbl1'

489518

Institutional Source

Beutler Lab

Gene Symbol

Ruvbl1

Ensembl Gene

ENSMUSG00000030079

Gene Name

RuvB-like AAA ATPase 1

Synonyms

Pontin52, 2510009G06Rik, Tip49a

MMRRC Submission

044302-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R6155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88442391-88474548 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 88456107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117925 (fasta)

Gene Model

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

AlphaFold

P60122

Predicted Effect

probably null
Transcript: ENSMUST00000032165

SMART Domains

Protein: ENSMUSP00000032165
Gene: ENSMUSG00000030079

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

Predicted Effect

probably null
Transcript: ENSMUST00000129035

SMART Domains

Protein: ENSMUSP00000117925
Gene: ENSMUSG00000030079

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

0.9505

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	C	5: 105,111,510 (GRCm39)	Y319C	probably benign	Het
Actn4	A	C	7: 28,595,566 (GRCm39)	I763S	probably damaging	Het
Actr8	G	A	14: 29,700,546 (GRCm39)		probably null	Het
Adrb1	T	C	19: 56,711,336 (GRCm39)	L178P	probably damaging	Het
Afap1	A	G	5: 36,092,953 (GRCm39)	Y19C	unknown	Het
Ankrd36	A	G	11: 5,637,442 (GRCm39)	E1337G	probably benign	Het
Arl4a	A	C	12: 40,086,519 (GRCm39)	V76G	probably damaging	Het
Bmp1	A	T	14: 70,745,447 (GRCm39)	I246K	probably damaging	Het
Camk4	A	T	18: 33,072,500 (GRCm39)	T18S	unknown	Het
Cep152	T	C	2: 125,423,620 (GRCm39)	H927R	probably benign	Het
Clca3a2	A	G	3: 144,525,118 (GRCm39)	I38T	probably damaging	Het
Clec2g	A	C	6: 128,957,236 (GRCm39)	T54P	probably damaging	Het
Cox20	A	G	1: 178,149,362 (GRCm39)	E31G	possibly damaging	Het
Crispld1	T	A	1: 17,823,241 (GRCm39)	H407Q	probably benign	Het
Csmd1	T	C	8: 15,953,231 (GRCm39)	I3417V	probably benign	Het
Dhtkd1	A	C	2: 5,915,170 (GRCm39)	H700Q	probably null	Het
Dnah10	G	A	5: 124,847,663 (GRCm39)	V1516M	probably damaging	Het
Dnah10	A	G	5: 124,862,239 (GRCm39)	T2165A	probably damaging	Het
Dock2	C	G	11: 34,244,123 (GRCm39)	M1072I	probably benign	Het
F11	T	A	8: 45,705,119 (GRCm39)	T141S	probably damaging	Het
Gabra6	T	A	11: 42,207,350 (GRCm39)	I245F	probably damaging	Het
H2-T5	G	A	17: 36,478,399 (GRCm39)	A211V	possibly damaging	Het
Herc1	T	A	9: 66,340,705 (GRCm39)	C1685S	possibly damaging	Het
Iftap	A	T	2: 101,406,355 (GRCm39)		probably null	Het
Il20	G	T	1: 130,838,477 (GRCm39)	D73E	probably damaging	Het
Ireb2	C	A	9: 54,793,811 (GRCm39)	P247Q	probably damaging	Het
Kcng3	T	C	17: 83,895,807 (GRCm39)	I220V	probably benign	Het
Lce1j	T	G	3: 92,696,379 (GRCm39)	Q133P	unknown	Het
Lgals9	C	T	11: 78,854,331 (GRCm39)	A287T	probably benign	Het
Lrrc52	A	G	1: 167,294,296 (GRCm39)		probably benign	Het
Map3k5	A	T	10: 19,994,187 (GRCm39)	H1027L	probably benign	Het
Morc3	A	G	16: 93,659,313 (GRCm39)	D407G	possibly damaging	Het
Myom1	T	C	17: 71,415,690 (GRCm39)		probably null	Het
Ncapg2	T	C	12: 116,401,631 (GRCm39)	F673S	possibly damaging	Het
Ncoa6	T	C	2: 155,249,368 (GRCm39)	D1312G	probably damaging	Het
Nkx1-1	A	T	5: 33,588,395 (GRCm39)	F298I	probably damaging	Het
Npas2	G	A	1: 39,326,557 (GRCm39)	R14Q	probably damaging	Het
Npas4	C	T	19: 5,036,898 (GRCm39)	C422Y	probably damaging	Het
Or11h4	T	C	14: 50,974,076 (GRCm39)	D181G	probably benign	Het
Or2y11	T	A	11: 49,443,411 (GRCm39)	I279N	possibly damaging	Het
Or4c123	A	G	2: 89,126,765 (GRCm39)	L283S	probably damaging	Het
Or5p4	T	C	7: 107,680,493 (GRCm39)	V164A	probably benign	Het
Pcdhga4	T	C	18: 37,819,546 (GRCm39)	I365T	probably damaging	Het
Pear1	T	A	3: 87,666,875 (GRCm39)	T37S	probably damaging	Het
Pkn2	A	T	3: 142,559,454 (GRCm39)	F24I	probably benign	Het
Plcb3	G	A	19: 6,943,533 (GRCm39)	A122V	probably damaging	Het
Pnliprp1	T	C	19: 58,718,565 (GRCm39)		probably null	Het
Pramel28	T	A	4: 143,691,712 (GRCm39)	H337L	probably benign	Het
Psmb3	T	A	11: 97,603,278 (GRCm39)	F164I	probably damaging	Het
Ptch2	T	A	4: 116,954,105 (GRCm39)	F45Y	probably damaging	Het
Ptpn23	C	A	9: 110,216,849 (GRCm39)		probably benign	Het
Pusl1	A	G	4: 155,975,005 (GRCm39)	S199P	probably damaging	Het
Rasgrp2	C	A	19: 6,452,531 (GRCm39)	L35I	probably damaging	Het
Rictor	T	C	15: 6,823,458 (GRCm39)	L1545P	probably benign	Het
Rtn4r	A	T	16: 17,969,258 (GRCm39)	M229L	probably benign	Het
Slc35b3	A	T	13: 39,128,572 (GRCm39)	S30T	probably damaging	Het
Sorcs3	T	C	19: 48,387,136 (GRCm39)	V207A	possibly damaging	Het
Sox13	A	G	1: 133,321,005 (GRCm39)	S2P	probably damaging	Het
Sptbn1	A	C	11: 30,087,403 (GRCm39)	L999R	probably damaging	Het
Taf4	A	G	2: 179,555,317 (GRCm39)	V1015A	probably damaging	Het
Top3b	T	C	16: 16,709,373 (GRCm39)	L687P	probably damaging	Het
Tpp2	T	A	1: 43,995,649 (GRCm39)	V268E	probably damaging	Het
Ttc6	T	C	12: 57,784,402 (GRCm39)	Y1824H	possibly damaging	Het
Txk	A	G	5: 72,858,069 (GRCm39)	Y360H	probably damaging	Het
Vmn2r57	T	C	7: 41,078,114 (GRCm39)	I115V	probably benign	Het
Vmn2r98	T	C	17: 19,286,143 (GRCm39)	S214P	possibly damaging	Het
Zbtb48	T	C	4: 152,106,495 (GRCm39)		probably null	Het
Zzz3	A	G	3: 152,133,319 (GRCm39)	I126V	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGTTTGCACTTGTGGCTCTAC -3'
(R):5'- TCAGGACACCTTTCGCAGAG -3'

Sequencing Primer
(F):5'- GGCTCTACTGTTTTCTGTCCACAG -3'
(R):5'- GCAGTTAAGGTAAGAGCTCCACAC -3'

Posted On

2017-10-10