Mutagenetix > Incidental Mutation

Incidental Mutation 'R5296:Ruvbl1'

405408

Institutional Source

Beutler Lab

Gene Symbol

Ruvbl1

Ensembl Gene

ENSMUSG00000030079

Gene Name

RuvB-like AAA ATPase 1

Synonyms

Pontin52, 2510009G06Rik, Tip49a

MMRRC Submission

042879-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R5296 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88442391-88474548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88462890 bp (GRCm39)

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: 126,187,196 (GRCm39)	D89A	probably damaging	Het
Bhlhe41	C	T	6: 145,808,694 (GRCm39)		probably benign	Het
Cacna1s	G	A	1: 136,023,523 (GRCm39)	V674M	probably benign	Het
Cavin2	T	C	1: 51,329,029 (GRCm39)		probably null	Het
Cd300lb	T	C	11: 114,815,763 (GRCm39)	S106G	possibly damaging	Het
Ceacam15	A	G	7: 16,407,121 (GRCm39)	V132A	probably benign	Het
Ddi2	G	T	4: 141,412,076 (GRCm39)	Q279K	probably benign	Het
Dnah11	A	G	12: 117,847,151 (GRCm39)	V4304A	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Epsti1	T	A	14: 78,142,090 (GRCm39)	H55Q	probably benign	Het
Flad1	T	C	3: 89,318,503 (GRCm39)	T17A	probably damaging	Het
Fzd2	C	T	11: 102,496,981 (GRCm39)	T475M	probably damaging	Het
Gemin5	C	A	11: 58,020,887 (GRCm39)	W1099L	probably damaging	Het
Gm9892	T	C	8: 52,649,964 (GRCm39)		noncoding transcript	Het
Gmeb2	A	G	2: 180,897,779 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,765,833 (GRCm39)	E55G	probably damaging	Het
Gvin-ps3	A	T	7: 105,681,055 (GRCm39)		noncoding transcript	Het
Hltf	T	C	3: 20,162,276 (GRCm39)	S825P	probably damaging	Het
Kcnh3	A	T	15: 99,139,820 (GRCm39)	Q902L	probably null	Het
Kcnt2	C	T	1: 140,537,353 (GRCm39)	P1037L	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Lama5	A	C	2: 179,835,594 (GRCm39)	L1253R	probably damaging	Het
Lancl2	T	G	6: 57,701,567 (GRCm39)	S230A	probably benign	Het
Lmcd1	A	G	6: 112,292,549 (GRCm39)	M134V	probably damaging	Het
Lrrc23	C	A	6: 124,751,445 (GRCm39)	A205S	probably damaging	Het
Mfsd13b	T	A	7: 120,590,961 (GRCm39)	I234N	probably damaging	Het
Mroh3	A	G	1: 136,124,061 (GRCm39)	S386P	probably damaging	Het
Mylk3	A	C	8: 86,082,060 (GRCm39)	F313V	possibly damaging	Het
Myo9b	A	T	8: 71,786,032 (GRCm39)	Q643L	possibly damaging	Het
Nacad	T	C	11: 6,555,745 (GRCm39)	S2G	unknown	Het
Olfr908	T	C	9: 38,427,412 (GRCm39)	F28S	probably damaging	Het
Or10z1	G	T	1: 174,078,322 (GRCm39)	T57K	possibly damaging	Het
Or2n1d	C	T	17: 38,646,347 (GRCm39)	Q100*	probably null	Het
Or4x6	A	T	2: 89,949,043 (GRCm39)	W300R	probably damaging	Het
Pkd1	T	C	17: 24,795,048 (GRCm39)	V2245A	probably damaging	Het
Pkdrej	G	A	15: 85,701,319 (GRCm39)	T1539I	possibly damaging	Het
Plch2	G	T	4: 155,074,456 (GRCm39)		probably null	Het
Pygm	G	A	19: 6,434,609 (GRCm39)	R34H	probably damaging	Het
Rgs12	T	C	5: 35,178,448 (GRCm39)		probably benign	Het
Sapcd1	T	A	17: 35,245,707 (GRCm39)	Q104L	probably damaging	Het
Satb2	T	C	1: 56,836,066 (GRCm39)	E575G	probably damaging	Het
Sema6b	T	A	17: 56,434,091 (GRCm39)		probably null	Het
Slc25a11	T	C	11: 70,537,011 (GRCm39)	N15D	probably damaging	Het
Slc26a6	C	T	9: 108,737,845 (GRCm39)	T526M	probably damaging	Het
Tcaf3	G	T	6: 42,564,444 (GRCm39)	T906K	possibly damaging	Het
Thbd	A	T	2: 148,248,903 (GRCm39)	C322S	probably damaging	Het
Traf2	A	G	2: 25,410,452 (GRCm39)	L399P	probably damaging	Het
Troap	T	A	15: 98,976,698 (GRCm39)	V274D	probably damaging	Het
Utrn	G	A	10: 12,277,099 (GRCm39)	T3406M	probably damaging	Het
Uts2	G	T	4: 151,083,508 (GRCm39)	A40S	possibly damaging	Het
Vmn2r109	T	A	17: 20,774,603 (GRCm39)	I251F	possibly damaging	Het
Vmn2r67	A	G	7: 84,786,230 (GRCm39)	S592P	probably damaging	Het
Vps13b	T	G	15: 35,876,559 (GRCm39)	W2797G	probably damaging	Het
Ythdf1	A	T	2: 180,553,981 (GRCm39)	M51K	probably damaging	Het
Zfp60	T	A	7: 27,437,955 (GRCm39)		probably benign	Het
Zfp882	T	A	8: 72,668,204 (GRCm39)	F344I	probably 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
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'- ACATCTAGATAAACTTCGAGGGGAG -3'
(R):5'- TAAAGACCAGCCCCTATGCG -3'

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

Posted On

2016-07-22