Incidental Mutation 'R4714:Ruvbl1'
ID 353434
Institutional Source Beutler Lab
Gene Symbol Ruvbl1
Ensembl Gene ENSMUSG00000030079
Gene Name RuvB-like AAA ATPase 1
Synonyms Pontin52, 2510009G06Rik, Tip49a
MMRRC Submission 041956-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R4714 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 88442391-88474548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88461412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 259 (M259K)
Ref Sequence ENSEMBL: ENSMUSP00000032165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032165] [ENSMUST00000129035]
AlphaFold P60122
Predicted Effect possibly damaging
Transcript: ENSMUST00000032165
AA Change: M259K

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000032165
Gene: ENSMUSG00000030079
AA Change: M259K

DomainStartEndE-ValueType
AAA 62 365 1.51e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129035
SMART Domains Protein: ENSMUSP00000117925
Gene: ENSMUSG00000030079

DomainStartEndE-ValueType
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: 99.1%
  • 3x: 98.5%
  • 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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4930486L24Rik A G 13: 60,992,132 (GRCm39) V298A probably damaging Het
Abca12 A G 1: 71,360,609 (GRCm39) V534A probably benign Het
Abcb4 A G 5: 8,980,906 (GRCm39) probably null Het
Adam30 A T 3: 98,070,170 (GRCm39) S668C probably damaging Het
Ap1g1 T A 8: 110,556,252 (GRCm39) V196D probably damaging Het
Atp11b G A 3: 35,888,543 (GRCm39) V738I probably benign Het
Cast C T 13: 74,946,834 (GRCm39) V27I probably damaging Het
Cfap54 A G 10: 92,651,780 (GRCm39) I3090T probably benign Het
Cgn C A 3: 94,686,748 (GRCm39) G185W probably damaging Het
Champ1 T C 8: 13,928,063 (GRCm39) Y74H probably damaging Het
Cpm T C 10: 117,511,890 (GRCm39) I278T probably damaging Het
Dcaf15 T C 8: 84,828,845 (GRCm39) T141A probably benign Het
Dcun1d1 C T 3: 35,949,819 (GRCm39) V244M probably damaging Het
Defb8 A G 8: 19,497,575 (GRCm39) L12P probably damaging Het
Dlg1 A T 16: 31,609,079 (GRCm39) I225F probably damaging Het
Dync2h1 G T 9: 7,118,932 (GRCm39) H2178N possibly damaging Het
Enam A G 5: 88,651,395 (GRCm39) E893G probably damaging Het
Flt4 T A 11: 49,518,034 (GRCm39) L358Q probably damaging Het
Frmpd1 A G 4: 45,284,785 (GRCm39) Q1202R probably benign Het
Ghr T A 15: 3,349,879 (GRCm39) D433V possibly damaging Het
Grm7 G A 6: 111,057,383 (GRCm39) D328N possibly damaging Het
Haus4 T C 14: 54,779,577 (GRCm39) D349G probably benign Het
Helz T C 11: 107,517,542 (GRCm39) probably null Het
Hif3a A G 7: 16,790,196 (GRCm39) L69P probably damaging Het
Ifit1 A G 19: 34,625,563 (GRCm39) E233G probably damaging Het
Kcnc2 T C 10: 112,291,733 (GRCm39) F307S possibly damaging Het
Lrp1b A T 2: 41,000,771 (GRCm39) V2151E possibly damaging Het
Lrp5 T C 19: 3,709,454 (GRCm39) N92S probably damaging Het
Metrnl C T 11: 121,606,839 (GRCm39) A216V probably damaging Het
Msh2 A G 17: 88,026,217 (GRCm39) T732A probably damaging Het
Necab2 T C 8: 120,194,334 (GRCm39) L270P probably damaging Het
Noc3l T C 19: 38,804,157 (GRCm39) K74E probably benign Het
Oas2 A T 5: 120,871,537 (GRCm39) L702Q probably damaging Het
Or1j1 A T 2: 36,703,047 (GRCm39) I19N probably benign Het
Or2n1d A C 17: 38,646,731 (GRCm39) I228L possibly damaging Het
Or4k1 A G 14: 50,377,436 (GRCm39) I220T possibly damaging Het
Or4k6 C A 14: 50,475,824 (GRCm39) V173L possibly damaging Het
Or6c216 A T 10: 129,678,814 (GRCm39) N32K probably damaging Het
Pax6 A G 2: 105,525,745 (GRCm39) H376R possibly damaging Het
Pnkd C T 1: 74,390,941 (GRCm39) R376C probably damaging Het
Pnpla8 T C 12: 44,342,696 (GRCm39) F484S probably damaging Het
Psme4 T A 11: 30,782,573 (GRCm39) H909Q probably benign Het
Rasip1 CGG CGGG 7: 45,281,820 (GRCm39) probably null Het
Rbm47 A T 5: 66,182,395 (GRCm39) Y413N probably damaging Het
Rnf123 A G 9: 107,929,638 (GRCm39) probably null Het
Sohlh2 A G 3: 55,097,950 (GRCm39) H134R probably benign Het
Sorbs2 A G 8: 46,248,330 (GRCm39) D447G possibly damaging Het
Tank C T 2: 61,480,573 (GRCm39) P370S probably benign Het
Tenm4 A G 7: 96,544,131 (GRCm39) E2049G probably damaging Het
Tnik A G 3: 28,648,226 (GRCm39) H426R possibly damaging Het
Trpm6 C A 19: 18,831,564 (GRCm39) S1476R possibly damaging Het
Trpm7 G A 2: 126,682,703 (GRCm39) Q389* probably null Het
Ttc28 G A 5: 111,433,095 (GRCm39) R2043Q possibly damaging Het
Tymp A G 15: 89,260,510 (GRCm39) S103P probably damaging Het
Usp40 C T 1: 87,894,901 (GRCm39) probably null Het
Vmn1r202 T A 13: 22,685,977 (GRCm39) N147Y probably damaging Het
Vmn2r89 T C 14: 51,689,688 (GRCm39) S64P probably damaging Het
Vps13a A T 19: 16,727,220 (GRCm39) D229E probably benign Het
Vps52 A G 17: 34,180,153 (GRCm39) I354V probably benign Het
Zbtb8os T C 4: 129,235,557 (GRCm39) F90L probably damaging Het
Zfp36l1 T C 12: 80,157,270 (GRCm39) D37G possibly damaging Het
Zfp467 A G 6: 48,404,751 (GRCm39) S109P unknown Het
Zzef1 T A 11: 72,728,038 (GRCm39) C535S probably damaging Het
Other mutations in Ruvbl1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GCCTGTGAAGTTCCTCTGTG -3'
(R):5'- AGCTGTGATCTCAGAGGAGG -3'

Sequencing Primer
(F):5'- GTCTACAGTGCAAGTTCATGGAC -3'
(R):5'- TCTCAGAGGAGGGAAGACACCATC -3'
Posted On 2015-10-21