Mutagenetix > Incidental Mutation

Incidental Mutation 'R4684:Ruvbl1'

353511

Institutional Source

Beutler Lab

Gene Symbol

Ruvbl1

Ensembl Gene

ENSMUSG00000030079

Gene Name

RuvB-like AAA ATPase 1

Synonyms

Pontin52, 2510009G06Rik, Tip49a

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R4684 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88442391-88474548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 88468581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 367 (T367K)

Ref Sequence

ENSEMBL: ENSMUSP00000032165 (fasta)

Gene Model

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

AlphaFold

P60122

Predicted Effect

probably benign
Transcript: ENSMUST00000032165
AA Change: T367K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000032165
Gene: ENSMUSG00000030079
AA Change: T367K

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310039H08Rik	T	C	17: 47,083,872 (GRCm39)	V45A	probably benign	Het
4921509C19Rik	A	G	2: 151,313,791 (GRCm39)	I629T	unknown	Het
4933402N03Rik	T	C	7: 130,740,413 (GRCm39)	R268G	probably damaging	Het
Abca13	A	T	11: 9,384,193 (GRCm39)	R3882*	probably null	Het
Adamts3	T	G	5: 89,850,866 (GRCm39)	T558P	probably damaging	Het
Ano2	A	G	6: 125,767,304 (GRCm39)	N214S	probably benign	Het
Arhgef4	A	T	1: 34,850,866 (GRCm39)		probably null	Het
Boc	C	T	16: 44,320,743 (GRCm39)	A306T	probably benign	Het
Capn10	T	C	1: 92,871,503 (GRCm39)	F367S	probably damaging	Het
Ccdc6	T	C	10: 70,025,086 (GRCm39)		probably benign	Het
Cobll1	G	T	2: 64,929,372 (GRCm39)	S688R	possibly damaging	Het
Cpxm2	G	T	7: 131,650,767 (GRCm39)	P631Q	possibly damaging	Het
Cyp2c68	A	G	19: 39,687,779 (GRCm39)	V406A	possibly damaging	Het
Cyp4a30b	T	A	4: 115,312,200 (GRCm39)	Y118N	probably damaging	Het
Dgki	A	T	6: 37,276,781 (GRCm39)		probably benign	Het
Disp2	A	G	2: 118,623,237 (GRCm39)	N1323S	probably damaging	Het
Dock1	T	A	7: 134,326,138 (GRCm39)	Y42*	probably null	Het
Eps8l1	C	A	7: 4,476,944 (GRCm39)	P471Q	probably damaging	Het
Fam20a	A	C	11: 109,612,513 (GRCm39)	L10R	unknown	Het
Fpr-rs4	T	A	17: 18,242,446 (GRCm39)	I151K	probably damaging	Het
Gga1	C	A	15: 78,769,509 (GRCm39)	P161T	probably damaging	Het
Gm9923	T	A	10: 72,145,306 (GRCm39)	Y52*	probably null	Het
Gucy2g	A	G	19: 55,194,688 (GRCm39)	F910L	probably damaging	Het
H2-T5	A	T	17: 36,476,750 (GRCm39)	H241Q	possibly damaging	Het
Helz	T	C	11: 107,539,971 (GRCm39)	V315A	probably damaging	Het
Hk2	T	C	6: 82,716,629 (GRCm39)	Y301C	probably damaging	Het
Htt	C	T	5: 35,010,109 (GRCm39)	P1521S	probably damaging	Het
Iah1	T	C	12: 21,366,434 (GRCm39)	M1T	probably null	Het
Ik	T	C	18: 36,885,467 (GRCm39)	S287P	probably damaging	Het
Itga1	T	A	13: 115,185,906 (GRCm39)	D32V	probably damaging	Het
Itpr2	A	G	6: 146,274,671 (GRCm39)	F837S	probably damaging	Het
Klk14	A	G	7: 43,341,392 (GRCm39)	I15V	probably benign	Het
Kng2	T	C	16: 22,806,391 (GRCm39)	I603V	possibly damaging	Het
Lama1	T	C	17: 68,080,773 (GRCm39)	I1267T	possibly damaging	Het
Lrp1b	A	C	2: 40,812,316 (GRCm39)	L2430V	probably benign	Het
Lrrn3	T	G	12: 41,504,243 (GRCm39)	K25Q	possibly damaging	Het
Lta4h	T	A	10: 93,304,678 (GRCm39)	N233K	probably benign	Het
Mapk13	T	C	17: 28,989,023 (GRCm39)	I53T	probably damaging	Het
Mdn1	T	C	4: 32,666,430 (GRCm39)	F123L	probably damaging	Het
Myh4	G	C	11: 67,136,637 (GRCm39)	D472H	probably damaging	Het
Nipa2	A	T	7: 55,585,574 (GRCm39)	N121K	probably benign	Het
Nostrin	C	T	2: 69,014,268 (GRCm39)	T408M	probably benign	Het
Oosp2	C	T	19: 11,627,017 (GRCm39)	R102H	probably damaging	Het
Or1j18	A	G	2: 36,624,686 (GRCm39)	M118V	probably damaging	Het
Or4k15b	T	C	14: 50,272,287 (GRCm39)	D191G	probably damaging	Het
Osgin2	T	A	4: 16,001,946 (GRCm39)	I202L	probably benign	Het
Pbld2	C	A	10: 62,893,476 (GRCm39)	R271S	probably damaging	Het
Pex6	C	T	17: 47,023,027 (GRCm39)	T201I	probably benign	Het
Pilra	T	C	5: 137,833,777 (GRCm39)	I96M	probably damaging	Het
Pllp	T	A	8: 95,403,906 (GRCm39)	D47V	possibly damaging	Het
Plxna2	A	G	1: 194,444,902 (GRCm39)	S765G	probably benign	Het
Prkca	A	T	11: 107,852,434 (GRCm39)	Y100N	probably damaging	Het
Prkg1	T	A	19: 31,641,579 (GRCm39)	K35*	probably null	Het
Psmc2	A	G	5: 22,008,263 (GRCm39)	D389G	possibly damaging	Het
Rnf213	A	G	11: 119,331,951 (GRCm39)	T2387A	probably damaging	Het
Ros1	T	C	10: 52,005,192 (GRCm39)	N914S	probably damaging	Het
Scube2	C	T	7: 109,409,920 (GRCm39)	R525H	probably damaging	Het
Sec14l4	T	C	11: 3,985,200 (GRCm39)		probably null	Het
Secisbp2l	T	C	2: 125,587,862 (GRCm39)	D751G	probably damaging	Het
Setd3	T	C	12: 108,074,949 (GRCm39)	D402G	probably benign	Het
Slc15a2	T	A	16: 36,578,211 (GRCm39)	K359N	probably damaging	Het
Slc25a21	A	G	12: 57,243,721 (GRCm39)	S2P	probably benign	Het
Slfn8	A	T	11: 82,908,332 (GRCm39)	H70Q	probably benign	Het
Spef2	T	C	15: 9,647,576 (GRCm39)	I944V	probably benign	Het
Spg11	A	G	2: 121,895,557 (GRCm39)	F1887S	probably damaging	Het
Sptbn4	A	T	7: 27,066,160 (GRCm39)	D649E	possibly damaging	Het
Sptbn4	T	C	7: 27,063,844 (GRCm39)	E879G	probably damaging	Het
Stx5a	C	A	19: 8,720,725 (GRCm39)	R121S	probably damaging	Het
Tbcd	T	C	11: 121,384,597 (GRCm39)	L26P	probably damaging	Het
Tecpr1	T	C	5: 144,144,255 (GRCm39)	D649G	probably benign	Het
Tfam	A	G	10: 71,073,677 (GRCm39)	S32P	probably benign	Het
Tmt1b	G	T	10: 128,796,571 (GRCm39)	C79*	probably null	Het
Trmt44	C	T	5: 35,715,387 (GRCm39)	R642H	probably benign	Het
Trpm3	G	A	19: 22,965,145 (GRCm39)	A1547T	probably benign	Het
Ttll6	T	C	11: 96,044,003 (GRCm39)	V519A	probably benign	Het
Umodl1	T	C	17: 31,217,088 (GRCm39)	F1107L	probably benign	Het
Usp5	A	T	6: 124,794,919 (GRCm39)	V677E	probably damaging	Het
Utp20	A	T	10: 88,643,307 (GRCm39)	L605*	probably null	Het
Utrn	T	C	10: 12,620,984 (GRCm39)	D229G	probably damaging	Het
Uty	A	T	Y: 1,176,502 (GRCm39)	L178*	probably null	Het
Vmn2r88	A	T	14: 51,650,791 (GRCm39)	D168V	possibly damaging	Het
Vps13b	T	C	15: 35,646,324 (GRCm39)	V1476A	probably damaging	Het
Vps13b	C	A	15: 35,879,967 (GRCm39)	T3014K	probably benign	Het
Vps13b	C	T	15: 35,841,487 (GRCm39)	H2506Y	probably benign	Het
Vps37c	T	C	19: 10,690,132 (GRCm39)	V198A	probably benign	Het
Zfc3h1	T	C	10: 115,259,290 (GRCm39)	Y1621H	probably benign	Het
Zfp251	T	C	15: 76,738,607 (GRCm39)	D162G	possibly damaging	Het
Zfp292	T	C	4: 34,807,078 (GRCm39)	T1994A	probably benign	Het
Zfp791	A	G	8: 85,837,559 (GRCm39)	Y102H	probably benign	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
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'- TGATACTCAGGGATGCTAGCTAC -3'
(R):5'- ATAGCTGGGCAAGACCATGG -3'

Sequencing Primer
(F):5'- AGGGATGCTAGCTACCTACTTGTAC -3'
(R):5'- GGCAAGACCATGGGCTCTAATC -3'

Posted On

2015-10-21