Mutagenetix > Incidental Mutations

Incidental Mutation 'R5296:Ruvbl1'

405408

Institutional Source

Beutler Lab

Gene Symbol

Ruvbl1

Ensembl Gene

ENSMUSG00000030079

Gene Name

RuvB-like protein 1

Synonyms

Tip49a, 2510009G06Rik, Pontin52

MMRRC Submission

042879-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R5296 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88465409-88497572 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88485908 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 338 (I338T)

Ref Sequence

ENSEMBL: ENSMUSP00000032165 (fasta)

Gene Model

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

AlphaFold

P60122

Predicted Effect

probably damaging
Transcript: ENSMUST00000032165
AA Change: I338T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032165
Gene: ENSMUSG00000030079
AA Change: I338T

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

Meta Mutation Damage Score

0.6557

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.9%
20x: 96.6%

Validation Efficiency

100% (65/65)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobr	A	C	7: 126,588,024	D89A	probably damaging	Het
Bhlhe41	C	T	6: 145,862,968		probably benign	Het
Cacna1s	G	A	1: 136,095,785	V674M	probably benign	Het
Cavin2	T	C	1: 51,289,870		probably null	Het
Cd300lb	T	C	11: 114,924,937	S106G	possibly damaging	Het
Ceacam15	A	G	7: 16,673,196	V132A	probably benign	Het
Ddi2	G	T	4: 141,684,765	Q279K	probably benign	Het
Dnah11	A	G	12: 117,883,416	V4304A	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Epsti1	T	A	14: 77,904,650	H55Q	probably benign	Het
Flad1	T	C	3: 89,411,196	T17A	probably damaging	Het
Fzd2	C	T	11: 102,606,155	T475M	probably damaging	Het
Gemin5	C	A	11: 58,130,061	W1099L	probably damaging	Het
Gm8979	A	T	7: 106,081,848		noncoding transcript	Het
Gm9892	T	C	8: 52,196,929		noncoding transcript	Het
Gmeb2	A	G	2: 181,255,986		probably benign	Het
Grip1	A	G	10: 119,929,928	E55G	probably damaging	Het
Hltf	T	C	3: 20,108,112	S825P	probably damaging	Het
Kcnh3	A	T	15: 99,241,939	Q902L	probably null	Het
Kcnt2	C	T	1: 140,609,615	P1037L	probably damaging	Het
Klhl18	G	C	9: 110,436,127	N335K	possibly damaging	Het
Lama5	A	C	2: 180,193,801	L1253R	probably damaging	Het
Lancl2	T	G	6: 57,724,582	S230A	probably benign	Het
Lmcd1	A	G	6: 112,315,588	M134V	probably damaging	Het
Lrrc23	C	A	6: 124,774,482	A205S	probably damaging	Het
Mfsd13b	T	A	7: 120,991,738	I234N	probably damaging	Het
Mroh3	A	G	1: 136,196,323	S386P	probably damaging	Het
Mylk3	A	C	8: 85,355,431	F313V	possibly damaging	Het
Myo9b	A	T	8: 71,333,388	Q643L	possibly damaging	Het
Nacad	T	C	11: 6,605,745	S2G	unknown	Het
Olfr1269	A	T	2: 90,118,699	W300R	probably damaging	Het
Olfr136	C	T	17: 38,335,456	Q100*	probably null	Het
Olfr419	G	T	1: 174,250,756	T57K	possibly damaging	Het
Olfr908	T	C	9: 38,516,116	F28S	probably damaging	Het
Pkd1	T	C	17: 24,576,074	V2245A	probably damaging	Het
Pkdrej	G	A	15: 85,817,118	T1539I	possibly damaging	Het
Plch2	G	T	4: 154,989,999		probably null	Het
Pygm	G	A	19: 6,384,579	R34H	probably damaging	Het
Rgs12	T	C	5: 35,021,104		probably benign	Het
Sapcd1	T	A	17: 35,026,731	Q104L	probably damaging	Het
Satb2	T	C	1: 56,796,907	E575G	probably damaging	Het
Sema6b	T	A	17: 56,127,091		probably null	Het
Slc25a11	T	C	11: 70,646,185	N15D	probably damaging	Het
Slc26a6	C	T	9: 108,860,646	T526M	probably damaging	Het
Tcaf3	G	T	6: 42,587,510	T906K	possibly damaging	Het
Thbd	A	T	2: 148,406,983	C322S	probably damaging	Het
Traf2	A	G	2: 25,520,440	L399P	probably damaging	Het
Troap	T	A	15: 99,078,817	V274D	probably damaging	Het
Utrn	G	A	10: 12,401,355	T3406M	probably damaging	Het
Uts2	G	T	4: 150,999,051	A40S	possibly damaging	Het
Vmn2r109	T	A	17: 20,554,341	I251F	possibly damaging	Het
Vmn2r67	A	G	7: 85,137,022	S592P	probably damaging	Het
Vps13b	T	G	15: 35,876,413	W2797G	probably damaging	Het
Ythdf1	A	T	2: 180,912,188	M51K	probably damaging	Het
Zfp60	T	A	7: 27,738,530		probably benign	Het
Zfp882	T	A	8: 71,914,360	F344I	probably damaging	Het

Other mutations in Ruvbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Ruvbl1	APN	6	88484403	unclassified	probably benign
IGL00473:Ruvbl1	APN	6	88491568	missense	probably damaging	1.00
IGL01768:Ruvbl1	APN	6	88497271	missense	probably benign
IGL03354:Ruvbl1	APN	6	88479215	nonsense	probably null
R0106:Ruvbl1	UTSW	6	88473200	missense	probably damaging	1.00
R0106:Ruvbl1	UTSW	6	88473200	missense	probably damaging	1.00
R0145:Ruvbl1	UTSW	6	88484459	missense	possibly damaging	0.90
R0676:Ruvbl1	UTSW	6	88473200	missense	probably damaging	1.00
R1448:Ruvbl1	UTSW	6	88467569	missense	probably benign	0.05
R1561:Ruvbl1	UTSW	6	88479154	missense	probably damaging	1.00
R1574:Ruvbl1	UTSW	6	88479154	missense	probably damaging	1.00
R1623:Ruvbl1	UTSW	6	88485770	missense	probably damaging	1.00
R2113:Ruvbl1	UTSW	6	88483021	missense	probably damaging	0.99
R2372:Ruvbl1	UTSW	6	88485797	missense	possibly damaging	0.53
R2397:Ruvbl1	UTSW	6	88465552	missense	possibly damaging	0.71
R2894:Ruvbl1	UTSW	6	88479132	missense	possibly damaging	0.87
R4037:Ruvbl1	UTSW	6	88473135	missense	probably damaging	1.00
R4604:Ruvbl1	UTSW	6	88485905	missense	probably benign
R4684:Ruvbl1	UTSW	6	88491599	missense	probably benign	0.00
R4714:Ruvbl1	UTSW	6	88484430	missense	possibly damaging	0.61
R4835:Ruvbl1	UTSW	6	88497229	missense	possibly damaging	0.69
R4939:Ruvbl1	UTSW	6	88483039	splice site	probably null
R5114:Ruvbl1	UTSW	6	88497290	missense	probably benign	0.41
R5126:Ruvbl1	UTSW	6	88485901	missense	probably benign	0.13
R5507:Ruvbl1	UTSW	6	88467600	missense	probably benign	0.00
R5559:Ruvbl1	UTSW	6	88473096	missense	possibly damaging	0.90
R5819:Ruvbl1	UTSW	6	88483115	splice site	probably null
R6048:Ruvbl1	UTSW	6	88482991	missense	possibly damaging	0.90
R6155:Ruvbl1	UTSW	6	88479125	critical splice acceptor site	probably null
R6564:Ruvbl1	UTSW	6	88479226	missense	possibly damaging	0.93
R6704:Ruvbl1	UTSW	6	88479205	missense	probably benign	0.06
R7681:Ruvbl1	UTSW	6	88467653	critical splice donor site	probably null
R8071:Ruvbl1	UTSW	6	88473126	missense	probably damaging	1.00
R9087:Ruvbl1	UTSW	6	88497373	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACATCTAGATAAACTTCGAGGGGAG -3'
(R):5'- TAAAGACCAGCCCCTATGCG -3'

Sequencing Primer
(F):5'- TAAACTTCGAGGGGAGATCAAC -3'
(R):5'- GCCCCTATGCGACCATTAC -3'

Posted On

2016-07-22