Mutagenetix > Incidental Mutation

Incidental Mutation 'R4604:Ruvbl1'

345872

Institutional Source

Beutler Lab

Gene Symbol

Ruvbl1

Ensembl Gene

ENSMUSG00000030079

Gene Name

RuvB-like AAA ATPase 1

Synonyms

Pontin52, 2510009G06Rik, Tip49a

MMRRC Submission

041816-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R4604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88442391-88474548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88462887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 337 (V337A)

Ref Sequence

ENSEMBL: ENSMUSP00000032165 (fasta)

Gene Model

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

AlphaFold

P60122

Predicted Effect

probably benign
Transcript: ENSMUST00000032165
AA Change: V337A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032165
Gene: ENSMUSG00000030079
AA Change: V337A

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

Predicted Effect

probably benign
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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930518I15Rik	C	T	2: 156,699,074 (GRCm39)		probably benign	Het
Abcb6	G	A	1: 75,156,521 (GRCm39)	T81I	probably benign	Het
Acp6	A	G	3: 97,083,075 (GRCm39)	K362R	probably benign	Het
Adam26a	A	G	8: 44,023,088 (GRCm39)	M134T	probably benign	Het
Ankrd27	C	T	7: 35,327,915 (GRCm39)	P812S	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp2a1	G	A	7: 126,047,795 (GRCm39)	R672C	probably damaging	Het
Atxn2	G	T	5: 121,919,406 (GRCm39)	W371C	probably damaging	Het
B3gnt2	T	TTCACAAA	11: 22,786,426 (GRCm39)		probably null	Het
Btnl6	T	A	17: 34,727,435 (GRCm39)	D365V	possibly damaging	Het
Ccdc80	T	A	16: 44,915,928 (GRCm39)	L228Q	probably damaging	Het
Cdc42bpa	A	G	1: 179,936,759 (GRCm39)	H718R	probably benign	Het
Cdh18	A	G	15: 23,474,454 (GRCm39)	K775E	probably benign	Het
Cdh23	T	G	10: 60,173,445 (GRCm39)	N1679T	possibly damaging	Het
Cep192	T	A	18: 67,948,993 (GRCm39)	D271E	possibly damaging	Het
Cfap70	G	T	14: 20,493,729 (GRCm39)	T124K	probably benign	Het
Ckap5	A	T	2: 91,408,476 (GRCm39)	E890D	probably benign	Het
Col22a1	G	T	15: 71,824,188 (GRCm39)	P569T	probably benign	Het
Colq	A	T	14: 31,267,060 (GRCm39)	L150Q	possibly damaging	Het
Csf1	T	C	3: 107,664,278 (GRCm39)		probably null	Het
Csmd3	A	T	15: 47,868,211 (GRCm39)	S770T	possibly damaging	Het
Cul9	C	A	17: 46,841,072 (GRCm39)	V733L	probably damaging	Het
Cyp2c55	A	G	19: 39,019,830 (GRCm39)	D256G	possibly damaging	Het
Dclk3	A	T	9: 111,298,253 (GRCm39)	D599V	probably damaging	Het
Defb26	T	A	2: 152,350,104 (GRCm39)	I59F	possibly damaging	Het
Dnah6	A	G	6: 73,106,643 (GRCm39)	V1646A	possibly damaging	Het
Dnm2	T	C	9: 21,415,960 (GRCm39)		probably null	Het
Dock6	A	G	9: 21,713,836 (GRCm39)	L1867P	probably damaging	Het
Dock9	G	T	14: 121,905,871 (GRCm39)	T93K	probably damaging	Het
Dync2h1	T	C	9: 7,140,995 (GRCm39)	H1344R	probably benign	Het
Enam	A	C	5: 88,652,142 (GRCm39)	Q1217P	possibly damaging	Het
Fbf1	A	T	11: 116,049,748 (GRCm39)	D91E	possibly damaging	Het
Fbxo7	T	G	10: 85,882,666 (GRCm39)	W393G	probably damaging	Het
Gab2	A	G	7: 96,953,420 (GRCm39)	T599A	probably damaging	Het
Gfy	T	A	7: 44,826,612 (GRCm39)	I409F	possibly damaging	Het
Gm19345	T	A	7: 19,591,433 (GRCm39)		probably null	Het
Gm4787	A	G	12: 81,425,987 (GRCm39)	M57T	probably benign	Het
Gper1	A	G	5: 139,412,480 (GRCm39)	E275G	probably damaging	Het
Grik4	T	C	9: 42,435,882 (GRCm39)	E803G	probably damaging	Het
Gstm3	G	A	3: 107,875,513 (GRCm39)	P39L	possibly damaging	Het
Hax1	A	T	3: 89,904,767 (GRCm39)	V142D	probably damaging	Het
Hcn3	A	T	3: 89,057,747 (GRCm39)	I383N	probably damaging	Het
Hdac10	C	A	15: 89,009,600 (GRCm39)		probably null	Het
Hipk3	A	C	2: 104,269,674 (GRCm39)	M505R	probably damaging	Het
Hivep1	C	T	13: 42,313,225 (GRCm39)	P1822S	probably benign	Het
Hsd17b13	G	T	5: 104,104,124 (GRCm39)	H281N	unknown	Het
Ilrun	T	C	17: 28,039,289 (GRCm39)	D7G	probably damaging	Het
Irak2	T	A	6: 113,649,848 (GRCm39)	I222N	probably damaging	Het
Kalrn	G	A	16: 34,334,296 (GRCm39)	L7F	possibly damaging	Het
Kcnma1	A	G	14: 23,359,106 (GRCm39)		probably null	Het
Kcnn3	G	T	3: 89,427,727 (GRCm39)		probably benign	Het
Lamb1	A	C	12: 31,328,775 (GRCm39)	D218A	probably damaging	Het
Lrrtm1	A	T	6: 77,221,127 (GRCm39)	N195Y	probably damaging	Het
Ltf	A	T	9: 110,851,409 (GRCm39)	N72I	probably damaging	Het
Mcm4	A	G	16: 15,447,527 (GRCm39)	I479T	probably damaging	Het
Mfhas1	T	C	8: 36,055,764 (GRCm39)	S80P	probably benign	Het
Mknk1	A	G	4: 115,735,224 (GRCm39)	E364G	probably damaging	Het
Msh4	C	T	3: 153,577,920 (GRCm39)	C458Y	probably damaging	Het
Mtrr	A	T	13: 68,712,631 (GRCm39)		probably null	Het
Myo1a	T	C	10: 127,547,007 (GRCm39)	W356R	probably damaging	Het
Nbea	A	G	3: 55,631,069 (GRCm39)	V2186A	probably benign	Het
Nfe2l3	T	C	6: 51,427,992 (GRCm39)	S185P	probably damaging	Het
Nhsl1	A	C	10: 18,407,158 (GRCm39)	K1397Q	probably damaging	Het
Nmbr	C	T	10: 14,645,908 (GRCm39)	R261W	probably damaging	Het
Npy2r	A	G	3: 82,448,365 (GRCm39)	S137P	probably damaging	Het
Obscn	C	T	11: 58,971,031 (GRCm39)	G2494D	probably damaging	Het
Obscn	T	C	11: 59,013,572 (GRCm39)	K1092E	probably damaging	Het
Oosp2	A	C	19: 11,627,047 (GRCm39)	I92S	probably benign	Het
Or5ar1	C	T	2: 85,671,526 (GRCm39)	C203Y	probably damaging	Het
Pcdh9	T	C	14: 94,124,616 (GRCm39)	D518G	probably damaging	Het
Pde11a	G	T	2: 76,168,137 (GRCm39)	T272K	possibly damaging	Het
Plekha2	T	A	8: 25,549,851 (GRCm39)	Q162L	probably null	Het
Prkag2	T	A	5: 25,083,732 (GRCm39)	I84F	probably damaging	Het
Prm2	G	T	16: 10,609,613 (GRCm39)		probably benign	Het
Prpf40a	A	T	2: 53,032,035 (GRCm39)	C800S	probably damaging	Het
Prr5l	A	T	2: 101,559,793 (GRCm39)	C158S	probably benign	Het
Prrt3	C	A	6: 113,475,198 (GRCm39)	C8F	possibly damaging	Het
Psg25	T	C	7: 18,263,728 (GRCm39)	T32A	probably benign	Het
Sall1	T	A	8: 89,756,969 (GRCm39)	Q1045L	probably damaging	Het
Sec22c	T	C	9: 121,524,708 (GRCm39)	Y25C	probably damaging	Het
Serpina3i	A	T	12: 104,234,036 (GRCm39)	T335S	possibly damaging	Het
Setd1b	TCCACCACCACCACCACCACCACCA	TCCACCACCACCACCACCACCA	5: 123,290,137 (GRCm39)		probably benign	Het
Slc12a8	T	A	16: 33,428,529 (GRCm39)	I279N	probably damaging	Het
Slc15a1	G	A	14: 121,727,319 (GRCm39)	T83I	probably damaging	Het
Slc22a3	A	G	17: 12,678,658 (GRCm39)	F222S	probably benign	Het
Sorcs3	A	T	19: 48,682,353 (GRCm39)	T463S	probably benign	Het
Spsb4	C	A	9: 96,877,931 (GRCm39)	A131S	probably benign	Het
Sting1	T	A	18: 35,871,743 (GRCm39)	I170F	probably damaging	Het
Syne2	A	G	12: 76,014,484 (GRCm39)	E3225G	probably damaging	Het
Tchp	G	A	5: 114,857,634 (GRCm39)		probably null	Het
Tekt4	T	A	17: 25,690,749 (GRCm39)	D18E	probably benign	Het
Timm50	A	G	7: 28,010,443 (GRCm39)	V37A	probably benign	Het
Tlx2	A	C	6: 83,045,741 (GRCm39)	*285G	probably null	Het
Tshz1	C	A	18: 84,031,499 (GRCm39)	D970Y	probably damaging	Het
Ttn	A	T	2: 76,700,805 (GRCm39)	V50E	probably damaging	Het
Txndc17	T	A	11: 72,100,274 (GRCm39)	S113T	probably benign	Het
Tyk2	T	C	9: 21,019,305 (GRCm39)	Y1039C	probably damaging	Het
Ubqln3	A	G	7: 103,791,698 (GRCm39)	S131P	probably benign	Het
Uncx	A	T	5: 139,529,837 (GRCm39)	H30L	possibly damaging	Het
Usp25	T	A	16: 76,912,303 (GRCm39)	D1007E	probably damaging	Het
Usp47	T	C	7: 111,701,038 (GRCm39)	V1083A	probably damaging	Het
Wdr24	T	A	17: 26,047,479 (GRCm39)	H765Q	probably damaging	Het
Wrnip1	A	G	13: 32,986,330 (GRCm39)	D37G	probably damaging	Het
Xpo6	T	C	7: 125,712,924 (GRCm39)	T686A	possibly damaging	Het
Zfp941	G	A	7: 140,392,124 (GRCm39)	R412C	probably damaging	Het
Znrf2	T	A	6: 54,855,425 (GRCm39)	C71*	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCACATCTAGATAAACTTCGAGGG -3'
(R):5'- AGCCCCTATGCGACCATTAC -3'

Sequencing Primer
(F):5'- TCTAGATAAACTTCGAGGGGAGATC -3'
(R):5'- ATTACTTCGCACACTCCATAGC -3'

Posted On

2015-09-25