Incidental Mutation 'R2372:Ruvbl1'
ID 248165
Institutional Source Beutler Lab
Gene Symbol Ruvbl1
Ensembl Gene ENSMUSG00000030079
Gene Name RuvB-like AAA ATPase 1
Synonyms Pontin52, 2510009G06Rik, Tip49a
MMRRC Submission 040352-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R2372 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 88442391-88474548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88462779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 301 (V301A)
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: V301A

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000032165
Gene: ENSMUSG00000030079
AA Change: V301A

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
Meta Mutation Damage Score 0.5099 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 97% (36/37)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik A G 7: 44,009,704 (GRCm39) L135S probably damaging Het
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Alpi G T 1: 87,028,316 (GRCm39) T169N probably damaging Het
Ccdc15 T C 9: 37,226,801 (GRCm39) D378G possibly damaging Het
Cpb2 T G 14: 75,505,490 (GRCm39) V162G probably damaging Het
Dnmbp T C 19: 43,890,759 (GRCm39) E336G probably benign Het
Dok6 G C 18: 89,432,988 (GRCm39) R274G probably null Het
Eef1d G A 15: 75,768,166 (GRCm39) R199C probably damaging Het
Epha8 T C 4: 136,660,321 (GRCm39) Y714C probably damaging Het
Fyb1 T C 15: 6,681,388 (GRCm39) probably benign Het
Gfpt2 A G 11: 49,698,542 (GRCm39) N46D probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gm11596 C A 11: 99,684,082 (GRCm39) E13* probably null Het
Gsx2 T C 5: 75,237,713 (GRCm39) F222L probably damaging Het
Hpca T A 4: 129,012,237 (GRCm39) K100* probably null Het
Iqsec1 A G 6: 90,671,636 (GRCm39) S89P probably damaging Het
Kif12 T A 4: 63,086,796 (GRCm39) T347S possibly damaging Het
Knop1 A G 7: 118,452,440 (GRCm39) L93S probably damaging Het
Mib1 A G 18: 10,812,045 (GRCm39) T981A probably damaging Het
N4bp2l1 C T 5: 150,496,246 (GRCm39) E123K probably damaging Het
Npr2 C T 4: 43,650,432 (GRCm39) R976W probably damaging Het
Rbpj T C 5: 53,799,537 (GRCm39) probably benign Het
Ro60 C A 1: 143,646,620 (GRCm39) E42* probably null Het
Sgip1 T C 4: 102,766,988 (GRCm39) probably null Het
Sh3bp2 T C 5: 34,716,840 (GRCm39) I361T probably benign Het
Skint1 T A 4: 111,876,348 (GRCm39) Y90N probably damaging Het
Slc25a45 G A 19: 5,934,580 (GRCm39) V183I probably benign Het
Slco4c1 T A 1: 96,748,925 (GRCm39) H664L probably benign Het
Sult2a4 T A 7: 13,649,225 (GRCm39) I194L probably benign Het
Tecta C A 9: 42,299,570 (GRCm39) D173Y probably damaging Het
Tnrc18 T A 5: 142,745,459 (GRCm39) probably benign Het
Use1 T C 8: 71,821,823 (GRCm39) L169P possibly damaging Het
Zfp335 A G 2: 164,736,959 (GRCm39) L918P probably damaging Het
Zfp451 A T 1: 33,819,133 (GRCm39) probably null 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
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
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'- AGGGAAAGCTGCCAGTTCTG -3'
(R):5'- ACACTCGTTCAGAAGGAAGG -3'

Sequencing Primer
(F):5'- CCTGTTTTAGATGATGTAACTGAAGC -3'
(R):5'- GTGGGAAGCCTTGGAGC -3'
Posted On 2014-11-11